Phenotypic Mutations

150 mutations affecting 114 genes are currently displayed.

Mutations Mapped and Identified Based on Phenotype
[records 1 to 100 of 150] per page Full List
 
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1 UTSW Ptprc 0.314 1 138062861-138175708 bp (-) 138068401 Unknown (1;0)
 Autosomal Recessive (49;486)

 Autosomal Semidominant (7;48)
excellent candidate 2019-05-25
Diantha La Vine
 30 min GTT hypoglycemic
 30 min GTT hypoglycemic (male)
 Body Weight (Male) - decreased
 FACS B cells - decreased
 FACS B:T cells - decreased
 FACS B1 cells - increased
 FACS B1a cells in B1 cells - decreased
 FACS B1b cells - increased
 FACS B2 cells - decreased
 FACS CD11c+ DCs - increased
 FACS CD4:CD8 - increased
 FACS CD4+ T cells - decreased
 FACS CD4+ T cells in CD3+ T cells - increased
 FACS CD44+ CD4 T cells - decreased
 FACS CD44+ CD8 MFI - decreased
 FACS CD44+ CD8 MFI - increased
 FACS CD44+ CD8 T cells - decreased
 FACS CD44+ T cells - decreased
 FACS CD44+ T MFI - increased
 FACS CD8+ T cells - decreased
 FACS CD8+ T cells in CD3+ T cells - decreased
 FACS central memory CD8 T cells in CD8 T cells - increased
 FACS effector memory CD4 T cells in CD4 T cells - increased
 FACS effector memory CD8 T cells in CD8 T cells - increased
 FACS IgD MFI - decreased
 FACS IgD+ B cell percentage - decreased
 FACS IgM MFI - increased
 FACS IgM+ B cells - decreased
 FACS naive CD8 T cells in CD8 T cells - decreased
 FACS neutrophils - increased
 FACS NK T cells - decreased
 FACS T cells - decreased
 post-MCMV FACS B cells - decreased
 post-MCMV FACS B:T cells - decreased
 post-MCMV FACS B1 cells - increased
 post-MCMV FACS B1a cells in B1 cells - decreased
 post-MCMV FACS B1b cells in B1 cells - increased
 post-MCMV FACS B220 MFI - decreased
 post-MCMV FACS CD11b+ DCs (gated in CD11c+ cells) - increased
 post-MCMV FACS CD4:CD8 - increased
 post-MCMV FACS CD4+ T cells - decreased
 post-MCMV FACS CD44+ CD8 MFI - increased
 post-MCMV FACS CD44+ T MFI - increased
 post-MCMV FACS CD8+ T cells - decreased
 post-MCMV FACS CD8+ T cells in CD3+ T cells - decreased
 post-MCMV FACS central memory CD8 T cells in CD8 T cells - increased
 post-MCMV FACS IgD MFI - decreased
 post-MCMV FACS IgD+ B cell percentage - decreased
 post-MCMV FACS IgM MFI - increased
 post-MCMV FACS IgM+ B cells - decreased
 post-MCMV FACS macrophages - decreased
 post-MCMV FACS naive CD8 T cells in CD8 T cells - decreased
 post-MCMV FACS neutrophils - increased
 post-MCMV FACS pDCs - decreased
 post-MCMV FACS T cells - decreased
 T-dependent humoral response defect- decreased antibody response to OVA+ alum immunization
 T-dependent humoral response defect- decreased antibody response to rSFV
 total IgE level - decreased
G ⇒ A nonsense probably null
2 UTSW Ptprc 0.314 1 138062861-138175708 bp (-) 138137493 Unknown no linkage results 2019-05-25
Diantha La Vine
 FACS CD4+ T cells - decreased
 FACS CD8+ T cells - decreased
 hematopoietic system
 immune system
T ⇒ A intron probably benign
3 UTSW Ptprc 0.314 1 138062861-138175708 bp (-) 138113678 Autosomal Dominant (1;14)
 Autosomal Recessive (18;122)

 Autosomal Semidominant (2;12)
excellent candidate 2019-05-25
Diantha La Vine
 FACS B cells - decreased
 FACS B:T cells - decreased
 FACS B1 cells - increased
 FACS B220 MFI - decreased
 FACS CD4:CD8 - increased
 FACS CD4+ T cells - decreased
 FACS CD4+ T cells in CD3+ T cells - increased
 FACS CD44+ CD4 MFI - increased
 FACS CD44+ CD4 T cells - decreased
 FACS CD44+ CD8 MFI - increased
 FACS CD44+ CD8 T cells - decreased
 FACS CD44+ T cells - decreased
 FACS CD44+ T MFI - increased
 FACS CD8+ T cells - decreased
 FACS CD8+ T cells in CD3+ T cells - decreased
 FACS central memory CD4 T cells in CD4 T cells - increased
 FACS central memory CD8 T cells in CD8 T cells - increased
 FACS effector memory CD4 T cells in CD4 T cells - increased
 FACS effector memory CD8 T cells in CD8 T cells - increased
 FACS naive CD4 T cells in CD4 T cells - decreased
 FACS naive CD8 T cells in CD8 T cells - decreased
 FACS T cells - decreased
C ⇒ A nonsense probably null
4 UTSW Atm 0.816 9 53439149-53536740 bp (-) 53516467 Autosomal Recessive (9;63) excellent candidate 2019-05-25
Diantha La Vine
 FACS B:T cells - increased
 FACS CD4:CD8 - decreased
 FACS CD4+ T cells - decreased
 FACS CD4+ T cells in CD3+ T cells - decreased
 FACS CD8+ T cells - decreased
 FACS CD8+ T cells in CD3+ T cells - increased
 FACS T cells - decreased
 T-dependent humoral response defect- decreased antibody response to OVA+ alum immunization
 T-dependent humoral response defect- decreased antibody response to rSFV
C ⇒ A nonsense probably null
5 UTSW Mc4r 0.070 18 66857715-66860472 bp (-) 66859180 Autosomal Semidominant (5;29) excellent candidate 2019-05-25
Diantha La Vine
 Body Weight - increased
 Body Weight (BP Male) - increased
 Body Weight (BP) - increased
 Body Weight (Male) - increased
 Motor: Rotarod Weight - increased
A ⇒ T nonsense probably null
6 UTSW Klhl6 0.074 16 19946496-19983037 bp (-) 19957218 Autosomal Recessive (8;130)
 Autosomal Semidominant (7;45)
excellent candidate 2019-05-24
Diantha La Vine
 FACS B cells - decreased
 FACS B:T cells - decreased
 FACS B1 cells - increased
 FACS B220 MFI - decreased
 FACS CD4:CD8 - increased
 FACS CD4+ T cells - increased
 FACS CD4+ T cells in CD3+ T cells - increased
 FACS CD44+ CD4 MFI - decreased
 FACS CD8+ T cells - increased
 FACS CD8+ T cells in CD3+ T cells - decreased
 FACS central memory CD4 T cells in CD4 T cells - decreased
 FACS IgM+ B cells - decreased
 FACS T cells - increased
 T-independent B cell response defect- increased TNP-specific IgM to TNP-Ficoll immunization
 total IgE level - increased
G ⇒ A nonsense probably null
7 UTSW Msh6 1.000 17 87975050-87990883 bp (+) 87980223 Autosomal Recessive (2;24) excellent candidate 2019-05-22
Diantha La Vine
 T-dependent humoral response defect- decreased antibody response to OVA+ alum immunization
 total IgE level - decreased
G ⇒ A nonsense probably null
8 UTSW Alms1 0.000 6 85587531-85702753 bp (+) 85620369 Autosomal Recessive (2;8) failed initial filter 2019-05-22
Anne Murray
 Body Weight - increased
 Body Weight (Female) - increased
 Body Weight (Male) - increased
A ⇒ T nonsense probably null
9 UTSW
has photo
Alms1 0.000 6 85587531-85702753 bp (+) 85627934 Autosomal Dominant (1;1)
 Autosomal Recessive (14;102)

 Autosomal Semidominant (2;6)
excellent candidate 2019-05-22
Diantha La Vine
 30 Min. Insulin - increased
 30 Min. Insulin (Female) - increased
 30 Min. Insulin (Male) - increased
 Body Weight - increased
 Body Weight (Female) - increased
 Body Weight (Male) - increased
 fasting hyperglycemia
 fasting hyperglycemia (female)
 fasting hyperglycemia (male)
 Fasting Insulin - increased
 Fasting Insulin (Female) - increased
 Fasting Insulin (Male) - increased
 growth/size
 NK cell response - decreased
 NK killing - decreased
C ⇒ T nonsense probably null
10 UTSW Alms1 0.000 6 85587531-85702753 bp (+) 85628735 Autosomal Recessive (14;115) excellent candidate 2019-05-22
Diantha La Vine
 Body Weight - increased
 Body Weight (BP Female) - increased
 Body Weight (BP) - increased
 Body Weight (Female) - increased
 Body Weight (Male) - increased
A ⇒ T nonsense probably null
11 UTSW Alms1 0.000 6 85587531-85702753 bp (+) 85677990 Autosomal Recessive (7;50) excellent candidate 2019-05-22
Diantha La Vine
 30 Min. Insulin - increased
 30 Min. Insulin (Male) - increased
 Body Weight - increased
 Body Weight (Female) - increased
 Body Weight (Male) - increased
 Fasting Insulin - increased
 Fasting Insulin (Female) - increased
 Fasting Insulin (Male) - increased
C ⇒ T nonsense probably null
12 UTSW Alms1 0.000 6 85587531-85702753 bp (+) 85621275 Autosomal Recessive (1;5)
 Autosomal Semidominant (1;4)
excellent candidate 2019-05-22
Diantha La Vine
 Body Weight - increased
 Body Weight (Female) - increased
 Body Weight (Male) - increased
 growth/size
C ⇒ T nonsense probably null
13 UTSW Dock2 0.000 11 34226815-34783892 bp (-) 34248636 Unknown (1;0) no linkage results 2019-05-21
Diantha La Vine
 FACS CD4+ T cells - decreased
 FACS CD8+ T cells - decreased
 T-dependent humoral response defect- decreased antibody response to rSFV
G ⇒ A nonsense probably null
14 UTSW Lrba 0.276 3 86224680-86782692 bp (+) 86664458 Autosomal Recessive (2;12)
 Autosomal Semidominant (1;4)
excellent candidate 2019-05-16
Anne Murray
 DSS: sensitive day 10
 DSS: sensitive day 7
 Total IgE After 2nd OVA/Alum Challenge (day 7) - increased
T ⇒ A nonsense probably null
15 UTSW Lrba 0.276 3 86224680-86782692 bp (+) 86350304 Autosomal Recessive (2;15) excellent candidate 2019-05-16
Anne Murray
 DSS: sensitive day 10
 DSS: sensitive day 7
C ⇒ T nonsense probably null
16 UTSW Hcn2 0.000 10 79716634-79736108 bp (+) 79733773 Autosomal Recessive (7;48) excellent candidate 2019-05-16
Diantha La Vine
 Body Weight - decreased
 Body Weight (BP Male) - decreased
 Body Weight (BP) - decreased
 Body Weight (Male) - decreased
 FACS B cells - decreased
 FACS CD4:CD8 - increased
 Motor: Rotarod Weight - decreased
G ⇒ T nonsense probably null
17 UTSW Gh 0.246 11 106300271-106301865 bp (-) 106301404 Autosomal Recessive (5;31) excellent candidate 2019-05-16
Anne Murray
 Body Weight - decreased
 Body Weight (Female) - decreased
 FACS effector memory CD4 T cells in CD4 T cells - increased
 FACS naive CD4 T cells in CD4 T cells - decreased
 Motor: Rotarod Weight - decreased
T ⇒ A nonsense probably null
18 UTSW Lmbr1l 0.000 15 98903917-98918231 bp (-) 98909263 Autosomal Dominant (1;4)
 Autosomal Recessive (24;220)
excellent candidate 2019-05-14
Anne Murray
 CD8 response - decreased
 CTL killing - decreased
 CTL killing dominant epitope - decreased
 FACS B cells - increased
 FACS B:T cells - increased
 FACS B1 cells - increased
 FACS B1a cells in B1 cells - decreased
 FACS B220 MFI - decreased
 FACS CD4+ T cells - decreased
 FACS CD44+ CD4 MFI - increased
 FACS CD44+ CD8 MFI - increased
 FACS CD44+ T cells - decreased
 FACS CD44+ T MFI - increased
 FACS CD8+ T cells - decreased
 FACS central memory CD4 T cells in CD4 T cells - increased
 FACS central memory CD8 T cells in CD8 T cells - increased
 FACS effector memory CD4 T cells in CD4 T cells - increased
 FACS effector memory CD8 T cells in CD8 T cells - increased
 FACS IgD MFI - decreased
 FACS IgD+ B cell percentage - increased
 FACS IgM+ B cells - increased
 FACS macrophages - increased
 FACS naive CD4 T cells in CD4 T cells - decreased
 FACS naive CD8 T cells in CD8 T cells - decreased
 FACS neutrophils - increased
 FACS NK cells - decreased
 FACS NK T cells - decreased
 FACS T cells - decreased
 Fasting Insulin - decreased
 MCMV susceptibility
 NK cell response - decreased
 NK killing - decreased
 T-dependent humoral response defect- decreased antibody response to OVA+ alum immunization
 T-dependent humoral response defect- decreased antibody response to rSFV
 T-independent B cell response defect- decreased TNP-specific IgM to TNP-Ficoll immunization
 total IgE after 2nd OVA/Alum - decreased
 Total IgE After 2nd OVA/Alum Challenge (day 7) - decreased
G ⇒ T nonsense probably null
19 UTSW
has photo
Slc45a2 0.162 15 11000721-11029233 bp (+) 11022172 Unknown no linkage results 2019-04-23
Diantha La Vine
 pigmentation
 skin/coat/nails
C ⇒ A synonymous probably benign
20 UTSW Nckap1l 0.639 15 103453794-103498810 bp (+) 103471232 Autosomal Recessive (23;236) excellent candidate 2019-04-17
Diantha La Vine
 Blood Pressure: SBP Average - decreased
 Body Weight - decreased
 Body Weight (BP Male) - decreased
 Body Weight (BP) - decreased
 Body Weight (Male) - decreased
 FACS B cells - decreased
 FACS B:T cells - decreased
 FACS CD4:CD8 - decreased
 FACS CD4+ T cells - decreased
 FACS CD4+ T cells in CD3+ T cells - decreased
 FACS CD44+ CD8 MFI - increased
 FACS CD44+ T cells - increased
 FACS CD44+ T MFI - increased
 FACS CD8+ T cells - decreased
 FACS central memory CD8 T cells in CD8 T cells - decreased
 FACS effector memory CD8 T cells in CD8 T cells - increased
 FACS naive CD4 T cells in CD4 T cells - decreased
 FACS naive CD8 T cells in CD8 T cells - decreased
 FACS NK cells - decreased
 FACS T cells - decreased
 Motor: Rotarod Weight - decreased
C ⇒ A nonsense probably null
21 UTSW Prkdc 0.963 16 15637866-15842235 bp (+) 15752829 Autosomal Recessive (24;363) excellent candidate 2019-04-17
Diantha La Vine
 Body Weight - decreased
 Body Weight (Male) - decreased
 FACS B cells - decreased
 FACS B:T cells - increased
 FACS B1 cells - decreased
 FACS B220 MFI - decreased
 FACS CD4+ T cells - decreased
 FACS CD4+ T cells in CD3+ T cells - decreased
 FACS CD44+ CD4 MFI - increased
 FACS CD44+ CD4 T cells - decreased
 FACS CD44+ CD8 MFI - increased
 FACS CD44+ T cells - decreased
 FACS CD44+ T MFI - increased
 FACS CD8+ T cells - decreased
 FACS central memory CD4 T cells in CD4 T cells - increased
 FACS central memory CD8 T cells in CD8 T cells - increased
 FACS effector memory CD4 T cells in CD4 T cells - increased
 FACS naive CD4 T cells in CD4 T cells - decreased
 FACS naive CD8 T cells in CD8 T cells - decreased
 FACS NK cells - increased
 FACS NK T cells - decreased
 FACS T cells - decreased
C ⇒ A nonsense probably null
22 UTSW Prkdc 0.963 16 15637866-15842235 bp (+) 15831282 Autosomal Recessive (22;264) excellent candidate 2019-04-17
Diantha La Vine
 Body Weight - decreased
 FACS B cells - decreased
 FACS B1 cells - increased
 FACS B1a cells - decreased
 FACS B1b cells - increased
 FACS B2 cells - decreased
 FACS B220 MFI - decreased
 FACS CD4:CD8 - increased
 FACS CD4+ T cells - decreased
 FACS CD44+ CD4 MFI - increased
 FACS CD44+ CD4 T cells - increased
 FACS CD44+ CD8 MFI - increased
 FACS CD44+ T MFI - increased
 FACS CD8+ T cells - decreased
 FACS CD8+ T cells in CD3+ T cells - decreased
 FACS IgD MFI - decreased
 FACS IgD+ B cell percentage - decreased
 FACS IgM+ B cells - decreased
 FACS macrophages - increased
 FACS neutrophils - increased
 FACS T cells - decreased
 T-dependent humoral response defect- decreased antibody response to OVA+ alum immunization
 T-dependent humoral response defect- decreased antibody response to rSFV
 T-independent B cell response defect- decreased TNP-specific IgM to TNP-Ficoll immunization
G ⇒ T nonsense probably null
23 UTSW Card11 0.000 5 140872990-141000582 bp (-) 140876495 Unknown no linkage results 2019-04-16
Diantha La Vine
 T-independent B cell response defect- decreased TNP-specific IgM to TNP-Ficoll immunization
G ⇒ A nonsense probably null
24 UTSW Bcl3 0.000 7 19808462-19822770 bp (-) 19809634 Autosomal Recessive (4;27) excellent candidate 2019-04-03
Diantha La Vine
 FACS B1 cells - increased
 FACS CD4:CD8 - decreased
 FACS CD4+ T cells in CD3+ T cells - decreased
 FACS IgD MFI - decreased
A ⇒ T nonsense probably null
25 UTSW Bcl3 0.000 7 19808462-19822770 bp (-) 19811580 Autosomal Recessive (9;55)
 Autosomal Semidominant (3;15)
excellent candidate 2019-04-03
Diantha La Vine
 FACS B1 cells - increased
 FACS B1b cells in B1 cells - decreased
 FACS CD44+ CD8 MFI - increased
 FACS CD44+ CD8 T cells - increased
 FACS CD44+ T MFI - increased
 FACS CD8+ T cells - increased
 FACS central memory CD8 T cells in CD8 T cells - increased
 FACS macrophages - increased
 ratio of OVA-specific IgE over the total IgE - increased
 T-dependent humoral response defect- decreased antibody response to rSFV
 Total IgE After 2nd OVA/Alum Challenge (day 7) - decreased
 total IgE level - decreased
G ⇒ T nonsense probably null
26 UTSW Themis 0.146 10 28668360-28883818 bp (+) 28761199 Autosomal Recessive (19;252) excellent candidate 2019-03-30
Diantha La Vine
 Blood Pressure: DBP Day 1 - increased
 CD8 response - decreased
 CTL killing - decreased
 CTL killing dominant epitope - decreased
 FACS B:T cells - increased
 FACS CD4:CD8 - decreased
 FACS CD4+ T cells - decreased
 FACS CD4+ T cells in CD3+ T cells - decreased
 FACS CD44+ CD4 MFI - increased
 FACS CD44+ CD8 MFI - increased
 FACS CD44+ CD8 T cells - increased
 FACS CD44+ T MFI - increased
 FACS CD8+ T cells - decreased
 FACS CD8+ T cells in CD3+ T cells - increased
 FACS central memory CD4 T cells in CD4 T cells - increased
 FACS central memory CD8 T cells in CD8 T cells - increased
 FACS effector memory CD4 T cells in CD4 T cells - increased
 FACS naive CD4 T cells in CD4 T cells - decreased
 FACS naive CD8 T cells in CD8 T cells - decreased
 FACS T cells - decreased
 T-dependent humoral response defect- decreased antibody response to rSFV
G ⇒ T nonsense probably null
27 UTSW
has photo
Lepr 0.000 4 101717404-101815352 bp (+) 101764872 Unknown no linkage results 2019-03-30
Diantha La Vine
 adipose tissue
 behavior/neurological
 Body Weight - increased
 growth/size
 homeostasis/metabolism
 reproductive system
T ⇒ A missense probably damaging 1.000
28 UTSW
has photo
Lepr 0.000 4 101717404-101815352 bp (+) 101768063 Unknown no linkage results 2019-03-30
Diantha La Vine
 adipose tissue
 behavior/neurological
 Body Weight - increased
 growth/size
 homeostasis/metabolism
 reproductive system
T ⇒ A missense probably benign 0.252
29 UTSW Lepr 0.000 4 101717404-101815352 bp (+) 101772959 Unknown no linkage results 2019-03-30
Diantha La Vine
 adipose tissue
 behavior/neurological
 Body Weight - increased
 growth/size
 homeostasis/metabolism
 reproductive system
G ⇒ A synonymous probably benign
30 UTSW
has video
Epg5 0.770 18 77938467-78035027 bp (+) 77948299 Autosomal Recessive (4;22)
 Autosomal Semidominant (1;5)
excellent candidate 2019-03-21
Anne Murray
 behavior/neurological
 FACS CD4+ T cells in CD3+ T cells - decreased
 FACS CD44+ CD4 MFI - decreased
T ⇒ A nonsense probably null
31 UTSW Rag1 0.482 2 101638282-101649501 bp (-) 101645647 Unknown (1;0) no linkage results 2019-03-21
Diantha La Vine
 FACS B cells - decreased
 FACS CD4+ T cells - decreased
 FACS CD8+ T cells - decreased
 hematopoietic system
 immune system
 RVFV susceptibility
G ⇒ T intron probably benign
32 UTSW Rag1 0.482 2 101638282-101649501 bp (-) 101641223 Unknown no linkage results 2019-03-21
Diantha La Vine
 FACS B cells - decreased
 FACS CD4+ T cells - decreased
 FACS CD8+ T cells - decreased
 immune system
A ⇒ T intron probably benign
33 UTSW Ebf1 0.930 11 44617317-45008091 bp (+) 44972908 Autosomal Dominant (8;57) excellent candidate 2019-03-21
Diantha La Vine
 FACS B cells - decreased
 FACS B:T cells - decreased
 FACS CD4+ T cells - increased
 FACS CD8+ T cells - increased
 FACS IgD MFI - decreased
 FACS IgD+ B cell percentage - decreased
 FACS IgM+ B cells - decreased
 FACS T cells - increased
A ⇒ T nonsense probably null
34 UTSW Elmo1 0.000 13 20090596-20608353 bp (+) 20600212 Autosomal Dominant (3;7)
 Autosomal Recessive (4;16)
excellent candidate 2019-03-21
Diantha La Vine
 FACS B cells - decreased
 FACS B1 cells - increased
 FACS CD4:CD8 - decreased
 FACS CD4+ T cells in CD3+ T cells - decreased
 FACS CD8+ T cells in CD3+ T cells - increased
 FACS IgD+ B cell percentage - decreased
 FACS IgM+ B cells - decreased
C ⇒ G nonsense probably null
35 UTSW Elmo1 0.000 13 20090596-20608353 bp (+) 20290383 Autosomal Recessive (4;26)
 Autosomal Semidominant (4;27)
excellent candidate 2019-03-21
Diantha La Vine
 FACS B cells - decreased
 FACS B1 cells - increased
 FACS B220 MFI - decreased
 FACS CD4:CD8 - decreased
 FACS CD4+ T cells in CD3+ T cells - decreased
 FACS CD8+ T cells - increased
 FACS CD8+ T cells in CD3+ T cells - increased
 T-independent B cell response defect- decreased TNP-specific IgM to TNP-Ficoll immunization
G ⇒ T nonsense probably null
36 UTSW
has photohas video
Ctsl 1.000 13 64359337-64370890 bp (-) 64366623 Autosomal Recessive (15;273) excellent candidate 2019-03-15
Anne Murray
 FACS CD4:CD8 - decreased
 FACS CD4+ T cells - decreased
 FACS CD4+ T cells in CD3+ T cells - decreased
 FACS CD44+ CD4 MFI - increased
 FACS CD44+ CD8 MFI - increased
 FACS CD44+ CD8 T cells - increased
 FACS CD44+ T MFI - increased
 FACS CD8+ T cells - increased
 FACS CD8+ T cells in CD3+ T cells - increased
 FACS central memory CD4 T cells in CD4 T cells - increased
 FACS effector memory CD4 T cells in CD4 T cells - increased
 FACS naive CD4 T cells in CD4 T cells - decreased
 FACS T cells - decreased
 skin/coat/nails
 T-dependent humoral response defect- decreased antibody response to OVA+ alum immunization
T ⇒ A nonsense probably null
37 UTSW Rel 0.000 11 23736847-23770970 bp (-) 23757026 Unknown (2;0)
 Autosomal Dominant (1;10)

 Autosomal Recessive (2;21)


 Autosomal Semidominant (7;50)
excellent candidate 2019-03-13
Bruce Beutler
 FACS B1 cells - decreased
 FACS CD4+ T cells - increased
 FACS central memory CD4 T cells in CD4 T cells - decreased
 FACS T cells - increased
 IgE response to a Cysteine Protease (Papain) - decreased
 IgG1 response to a Cysteine Protease (Papain) - decreased
 ratio of OVA-specific IgE over the total IgE - increased
 T-dependent humoral response defect- decreased antibody response to OVA+ alum immunization
 T-independent B cell response defect- decreased TNP-specific IgM to TNP-Ficoll immunization
 total IgE level - decreased
C ⇒ A nonsense probably null
38 UTSW Dsg2 0.153 18 20558074-20604521 bp (+) 20580651 Autosomal Recessive (7;48) excellent candidate 2019-02-25
Anne Murray
 DSS: sensitive day 10
 DSS: sensitive day 7
 FACS CD4+ T cells - decreased
 FACS T cells - decreased
T ⇒ A nonsense probably null
39 UTSW Clcnka 0.000 4 141384610-141398724 bp (-) 141395158 Autosomal Recessive (2;20) excellent candidate 2019-02-25
Anne Murray
 DSS: sensitive day 10
 DSS: sensitive day 7
A ⇒ T nonsense probably null
40 UTSW Trp53bp1 0.000 2 121193281-121271407 bp (-) 121228606 Autosomal Recessive (1;5) excellent candidate (Recruited) 2019-02-14
Anne Murray
 FACS IgD MFI - decreased
T ⇒ A nonsense probably null
41 UTSW Pik3r1 0.000 13 101680563-101768217 bp (-) 101702776 Autosomal Recessive (2;11)
 Autosomal Semidominant (1;4)
good candidate 2019-02-13
Diantha La Vine
 FACS B1a cells in B1 cells - decreased
 FACS CD4+ T cells - increased
 IgE response to a Cysteine Protease (Papain) - increased
 OVA-specific IgE - increased
A ⇒ T nonsense probably null
42 UTSW Tcf12 1.000 9 71842688-72111871 bp (-) 71944016 Autosomal Dominant (7;35) excellent candidate 2019-02-12
Diantha La Vine
 FACS B cells - decreased
 FACS B:T cells - decreased
 FACS CD4+ T cells in CD3+ T cells - decreased
 FACS CD44+ T cells - increased
 FACS CD8+ T cells - increased
 FACS central memory CD8 T cells in CD8 T cells - increased
 FACS T cells - increased
T ⇒ A nonsense probably null
43 UTSW Tap2 0.109 17 34203527-34216321 bp (+) 34214032 Autosomal Recessive (16;242)
 Autosomal Semidominant (1;4)
excellent candidate 2019-02-12
Diantha La Vine
 CD8 response - decreased
 CTL killing - decreased
 CTL killing dominant epitope - decreased
 FACS B1a cells in B1 cells - decreased
 FACS CD4:CD8 - increased
 FACS CD4+ T cells - increased
 FACS CD4+ T cells in CD3+ T cells - increased
 FACS CD44+ CD4 MFI - decreased
 FACS CD44+ CD8 MFI - increased
 FACS CD44+ CD8 T cells - decreased
 FACS CD8+ T cells - decreased
 FACS CD8+ T cells in CD3+ T cells - decreased
 FACS central memory CD8 T cells in CD8 T cells - increased
 FACS effector memory CD4 T cells in CD4 T cells - decreased
 FACS naive CD4 T cells in CD4 T cells - increased
 FACS naive CD8 T cells in CD8 T cells - decreased
 FACS NK cells - increased
 NK cell response - decreased
 NK killing - decreased
C ⇒ A nonsense probably null
44 UTSW Rasgrp1 0.276 2 117279993-117343001 bp (-) 117302004 Autosomal Recessive (17;95) excellent candidate 2019-02-11
Diantha La Vine
 FACS B:T cells - increased
 FACS CD4+ T cells in CD3+ T cells - decreased
 FACS CD44+ CD4 MFI - increased
 FACS CD44+ CD8 MFI - increased
 FACS CD8+ T cells in CD3+ T cells - increased
 FACS central memory CD4 T cells in CD4 T cells - increased
 FACS central memory CD8 T cells in CD8 T cells - increased
 FACS effector memory CD4 T cells in CD4 T cells - increased
 FACS effector memory CD8 T cells in CD8 T cells - increased
 FACS naive CD4 T cells in CD4 T cells - decreased
 FACS naive CD8 T cells in CD8 T cells - decreased
 FACS NK cells - increased
 IgA response to 2nd OVA/Alum Challenge (day 7) - increased
 T-dependent humoral response defect- decreased antibody response to OVA+ alum immunization
 T-dependent humoral response defect- decreased antibody response to rSFV
 T-independent B cell response defect- decreased TNP-specific IgM to TNP-Ficoll immunization
 total IgE level - increased
T ⇒ A nonsense probably null
45 UTSW Rasgrp1 0.276 2 117279993-117343001 bp (-) 117291792 Autosomal Recessive (25;511)
 Autosomal Semidominant (2;8)
excellent candidate 2019-02-11
Diantha La Vine
 FACS B:T cells - increased
 FACS B1b cells - increased
 FACS CD4+ T cells - decreased
 FACS CD4+ T cells in CD3+ T cells - decreased
 FACS CD44+ CD4 MFI - increased
 FACS CD44+ CD8 MFI - increased
 FACS CD44+ T MFI - increased
 FACS CD8+ T cells - decreased
 FACS central memory CD4 T cells in CD4 T cells - increased
 FACS central memory CD8 T cells in CD8 T cells - increased
 FACS effector memory CD4 T cells in CD4 T cells - increased
 FACS effector memory CD8 T cells in CD8 T cells - increased
 FACS IgM MFI - increased
 FACS naive CD4 T cells in CD4 T cells - decreased
 FACS naive CD8 T cells in CD8 T cells - decreased
 FACS neutrophils - increased
 FACS NK cells - increased
 FACS T cells - decreased
A ⇒ T nonsense probably null
46 UTSW Rasgrp1 0.276 2 117279993-117343001 bp (-) 117284929 Autosomal Recessive (17;317)
 Autosomal Semidominant (1;11)
excellent candidate 2019-02-11
Diantha La Vine
 FACS B:T cells - increased
 FACS CD4:CD8 - decreased
 FACS CD4+ T cells - decreased
 FACS CD4+ T cells in CD3+ T cells - decreased
 FACS CD44+ CD4 MFI - increased
 FACS CD44+ CD4 T cells - increased
 FACS CD44+ CD8 MFI - increased
 FACS CD44+ T cells - increased
 FACS CD44+ T MFI - increased
 FACS CD8+ T cells - decreased
 FACS CD8+ T cells in CD3+ T cells - increased
 FACS central memory CD4 T cells in CD4 T cells - increased
 FACS central memory CD8 T cells in CD8 T cells - increased
 FACS effector memory CD4 T cells in CD4 T cells - increased
 FACS effector memory CD8 T cells in CD8 T cells - increased
 FACS naive CD4 T cells in CD4 T cells - decreased
 FACS naive CD8 T cells in CD8 T cells - decreased
 FACS NK cells - increased
 FACS T cells - decreased
C ⇒ T nonsense probably null
47 UTSW Lyn 0.000 4 3678115-3813122 bp (+) 3789908 Autosomal Dominant (3;12)
 Autosomal Recessive (1;4)

 Autosomal Semidominant (4;29)
potential candidate 2019-02-06
Diantha La Vine
 FACS B cells - decreased
 FACS B:T cells - decreased
 FACS B1a cells - increased
 FACS B220 MFI - decreased
 FACS IgD+ B cell percentage - decreased
 FACS IgM+ B cells - decreased
 FACS neutrophils - decreased
 MCMV susceptibility
 post-MCMV FACS B:T cells - decreased
 post-MCMV FACS IgM+ B cells - decreased
 T-dependent humoral response defect- decreased antibody response to OVA+ alum immunization
T ⇒ A nonsense probably null
48 UTSW Mdm4 1.000 1 132959484-133030561 bp (-) 133012651 Autosomal Dominant (4;34) excellent candidate 2019-02-05
Diantha La Vine
 FACS CD4:CD8 - increased
 FACS CD4+ T cells in CD3+ T cells - increased
 FACS CD8+ T cells - decreased
 FACS CD8+ T cells in CD3+ T cells - decreased
 post-MCMV FACS CD4+ T cells in CD3+ T cells - increased
A ⇒ T missense probably damaging 1.000
49 UTSW Ppp3cb 0.000 14 20499364-20546573 bp (-) 20528195 Autosomal Dominant (1;6)
 Autosomal Recessive (4;39)

 Autosomal Semidominant (4;18)
excellent candidate 2019-02-04
Diantha La Vine
 FACS B:T cells - increased
 FACS CD4:CD8 - increased
 FACS CD4+ T cells - decreased
 FACS CD4+ T cells in CD3+ T cells - decreased
 FACS CD44+ CD4 MFI - increased
 FACS CD44+ CD8 MFI - increased
 FACS CD44+ T MFI - increased
 FACS CD8+ T cells - decreased
 FACS CD8+ T cells in CD3+ T cells - decreased
 FACS central memory CD4 T cells in CD4 T cells - increased
 FACS central memory CD8 T cells in CD8 T cells - increased
 FACS effector memory CD8 T cells in CD8 T cells - increased
 FACS macrophages - increased
 FACS naive CD4 T cells in CD4 T cells - decreased
 FACS naive CD8 T cells in CD8 T cells - decreased
 FACS neutrophils - increased
 FACS NK cells - increased
 FACS T cells - decreased
 IgG1 response to a Cysteine Protease (Papain) - decreased
 OVA-specific IgE - increased
 T-dependent humoral response defect- decreased antibody response to OVA+ alum immunization
 Total IgE After 2nd OVA/Alum Challenge (day 7) - increased
 total IgE level - increased
G ⇒ T nonsense probably null
50 UTSW Diaph1 0.000 18 37843601-37935476 bp (-) 37897550 Autosomal Recessive (15;167) excellent candidate 2019-02-01
Anne Murray
 FACS B:T cells - increased
 FACS B1a cells in B1 cells - decreased
 FACS CD4+ T cells - decreased
 FACS CD44+ CD4 MFI - increased
 FACS CD44+ CD4 T cells - increased
 FACS CD44+ CD8 MFI - increased
 FACS CD44+ CD8 T cells - increased
 FACS CD44+ T cells - increased
 FACS CD44+ T MFI - increased
 FACS CD8+ T cells - decreased
 FACS central memory CD4 T cells in CD4 T cells - increased
 FACS central memory CD8 T cells in CD8 T cells - increased
 FACS effector memory CD4 T cells in CD4 T cells - increased
 FACS effector memory CD8 T cells in CD8 T cells - increased
 FACS naive CD4 T cells in CD4 T cells - decreased
 FACS naive CD8 T cells in CD8 T cells - decreased
 FACS T cells - decreased
 IgA response to 2nd OVA/Alum Challenge (day 7) - increased
 MCMV susceptibility
C ⇒ A nonsense probably null
51 UTSW Stk4 0.000 2 164070322-164155524 bp (+) 164083688 Autosomal Recessive (23;217)
 Autosomal Semidominant (2;12)
excellent candidate 2019-02-01
Diantha La Vine
 FACS B:T cells - increased
 FACS B1a cells in B1 cells - decreased
 FACS B1b cells in B1 cells - increased
 FACS B220 MFI - decreased
 FACS CD4:CD8 - increased
 FACS CD4+ T cells - decreased
 FACS CD4+ T cells in CD3+ T cells - increased
 FACS CD44+ CD4 MFI - increased
 FACS CD44+ CD8 MFI - increased
 FACS CD44+ T MFI - increased
 FACS CD8+ T cells - decreased
 FACS CD8+ T cells in CD3+ T cells - decreased
 FACS central memory CD4 T cells in CD4 T cells - increased
 FACS central memory CD8 T cells in CD8 T cells - increased
 FACS effector memory CD4 T cells in CD4 T cells - increased
 FACS effector memory CD8 T cells in CD8 T cells - increased
 FACS IgD MFI - decreased
 FACS macrophages - increased
 FACS naive CD4 T cells in CD4 T cells - decreased
 FACS naive CD8 T cells in CD8 T cells - decreased
 FACS neutrophils - increased
 FACS NK cells - increased
 FACS T cells - decreased
 Fasting Insulin (Female) - increased
 T-dependent humoral response defect- decreased antibody response to rSFV
 T-independent B cell response defect- decreased TNP-specific IgM to TNP-Ficoll immunization
 Total IgE After 2nd OVA/Alum Challenge (day 7) - increased
A ⇒ T nonsense probably null
52 UTSW Tlr6 0.216 5 64952031-64960097 bp (-) 64954394 Unknown (1;0) no linkage results 2019-01-31
Stephen Lyon
 immune system
 TLR signaling defect: TNF production by macrophages
A ⇒ T nonsense
53 UTSW Tlr6 0.216 5 64952031-64960097 bp (-) 64954194 Unknown (1;0) no linkage results 2019-01-31
Stephen Lyon
 immune system
 TLR signaling defect: TNF production by macrophages
T ⇒ A nonsense
54 UTSW Vav1 0.253 17 57279100-57328031 bp (+) 57303079 Autosomal Recessive (17;206)
 Autosomal Semidominant (2;23)
excellent candidate 2019-01-31
Diantha La Vine
 FACS B:T cells - increased
 FACS B1 cells - decreased
 FACS CD4:CD8 - increased
 FACS CD4+ T cells - decreased
 FACS CD44+ CD4 MFI - increased
 FACS CD44+ CD8 MFI - increased
 FACS CD44+ T MFI - increased
 FACS CD8+ T cells - decreased
 FACS CD8+ T cells in CD3+ T cells - decreased
 FACS central memory CD4 T cells in CD4 T cells - increased
 FACS central memory CD8 T cells in CD8 T cells - increased
 FACS effector memory CD4 T cells in CD4 T cells - increased
 FACS IgD MFI - decreased
 FACS IgM MFI - increased
 FACS naive CD4 T cells in CD4 T cells - decreased
 FACS naive CD8 T cells in CD8 T cells - decreased
 FACS T cells - decreased
 ratio of OVA-specific IgE over the total IgE - increased
 T-dependent humoral response defect- decreased antibody response to OVA+ alum immunization
A ⇒ T nonsense probably null
55 UTSW Tg 0.161 15 66670753-66850721 bp (+) 66766162 Unknown (1;0)
 Autosomal Recessive (5;26)
excellent candidate 2019-01-31
Diantha La Vine
 Body Weight - decreased
 Body Weight (Female) - decreased
 Body Weight (Male) - decreased
 OVA-specific IgE - increased
 total IgE level - increased
C ⇒ T nonsense probably null
56 UTSW Dsg2 0.153 18 20558074-20604521 bp (+) 20582939 Autosomal Dominant (1;4) good candidate (Recruited) 2019-01-30
Anne Murray
 DSS: sensitive day 7
T ⇒ A nonsense probably null
57 UTSW Pappa2 0.000 1 158711727-158980490 bp (-) 158834918 Unknown (2;0)
 Autosomal Dominant (2;8)

 Autosomal Semidominant (1;5)
excellent candidate 2019-01-29
Diantha La Vine
 Body Weight - decreased
 Body Weight (Female) - decreased
 growth/size
A ⇒ T nonsense probably null
58 UTSW Nlrp3 0.059 11 59541568-59566956 bp (+) 59548010 Autosomal Recessive (1;3)
 Autosomal Semidominant (2;12)
excellent candidate 2019-01-29
Diantha La Vine
 NALP3 inflammasome signaling defect
 NLRP3 inflammasome: low response
 OVA-specific IgE - increased
C ⇒ T nonsense probably null
59 UTSW Nlrp3 0.059 11 59541568-59566956 bp (+) 59565128 Autosomal Dominant (1;4)
 Autosomal Semidominant (1;5)
excellent candidate 2019-01-29
Diantha La Vine
 NALP3 inflammasome signaling defect
 NLRP3 inflammasome: low response
C ⇒ T nonsense probably null
60 UTSW Nfkb1 0.575 3 135584655-135691547 bp (-) 135595053 Unknown (1;0)
 Autosomal Recessive (1;3)

 Autosomal Semidominant (2;8)
excellent candidate 2019-01-28
Diantha La Vine
 NALP3 inflammasome signaling defect
 Nlrc4 inflammasome: low response
 NLRP3 inflammasome: low response
 T-dependent humoral response defect- decreased antibody response to rSFV
A ⇒ T nonsense probably null
61 UTSW Nfkb1 0.575 3 135584655-135691547 bp (-) 135626611 Autosomal Dominant (1;7)
 Autosomal Recessive (4;54)

 Autosomal Semidominant (5;29)
excellent candidate 2019-01-28
Diantha La Vine
 FACS B1 cells - decreased
 FACS CD44+ CD8 MFI - increased
 FACS central memory CD4 T cells in CD4 T cells - decreased
 FACS central memory CD8 T cells in CD8 T cells - increased
 FACS effector memory CD4 T cells in CD4 T cells - decreased
 FACS naive CD8 T cells in CD8 T cells - decreased
 T-dependent humoral response defect- decreased antibody response to rSFV
 T-independent B cell response defect- decreased TNP-specific IgM to TNP-Ficoll immunization
 total IgE after 2nd OVA/Alum - decreased
 Total IgE After 2nd OVA/Alum Challenge (day 7) - decreased
 total IgE level - decreased
T ⇒ A nonsense probably null
62 UTSW Nek7 0.000 1 138482875-138620141 bp (-) 138544242 Autosomal Semidominant (2;10) excellent candidate 2019-01-23
External Program
 NALP3 inflammasome signaling defect
 NLRP3 inflammasome: low response
A ⇒ T nonsense probably null
63 UTSW Pik3ap1 0.000 19 41274218-41385070 bp (-) 41356683 Unknown no linkage results 2019-01-17
Diantha La Vine
 T-independent B cell response defect- decreased TNP-specific IgM to TNP-Ficoll immunization
T ⇒ A intron probably benign
64 UTSW Wdr41 0.000 13 94976344-95023314 bp (+) 95015174 Unknown no linkage results 2019-01-09
Anne Murray
 DSS: sensitive day 10
 DSS: sensitive day 7
 FACS B1a cells - increased
 FACS B220 MFI - increased
 FACS CD44+ CD4 MFI - increased
 FACS CD44+ CD4 T cells - increased
 FACS CD44+ CD8 MFI - increased
 FACS CD44+ T MFI - increased
 FACS effector memory CD4 T cells in CD4 T cells - increased
 FACS effector memory CD8 T cells in CD8 T cells - increased
 FACS naive CD4 T cells in CD4 T cells - decreased
 FACS naive CD8 T cells in CD8 T cells - decreased
 FACS NK T cells - increased
 Nlrc4 inflammasome: low response
 NLRP3 inflammasome: low response
 TLR signaling defect: hypersensitivity to CpG + IFNg
 TLR signaling defect: hypersensitivity to LPS
 TLR signaling defect: hypersensitivity to PAM3CSK4
 TLR signaling defect: hypersensitivity to poly I:C
 TLR signaling defect: hypersensitivity to R848
C ⇒ T nonsense probably null
65 UTSW Smcr8 0.000 11 60777524-60788287 bp (+) 60779870 Autosomal Recessive (5;24) excellent candidate 2019-01-07
Anne Murray
 DSS: sensitive day 10
 DSS: sensitive day 7
 FACS B1a cells in B1 cells - increased
 FACS B220 MFI - increased
 FACS CD44+ CD4 MFI - increased
 FACS CD44+ CD4 T cells - increased
 FACS CD44+ CD8 MFI - increased
 FACS CD44+ CD8 T cells - increased
 FACS CD44+ T cells - increased
 FACS CD44+ T MFI - increased
 FACS effector memory CD4 T cells in CD4 T cells - increased
 FACS effector memory CD8 T cells in CD8 T cells - increased
 FACS naive CD8 T cells in CD8 T cells - decreased
 TLR signaling defect: hypersensitivity to CpG + IFNg
C ⇒ T nonsense probably null
66 UTSW Nedd9 0.000 13 41309581-41487362 bp (-) 41338979 Autosomal Recessive (5;29) excellent candidate 2018-12-19
Diantha La Vine
 FACS B1a cells in B1 cells - decreased
 MCMV susceptibility
 post-MCMV FACS B1a cells in B1 cells - decreased
 post-MCMV FACS B1b cells in B1 cells - increased
A ⇒ T nonsense probably null
67 UTSW Cd3e 0.000 9 44998740-45009627 bp (-) 45006150 Unknown (1;0) no linkage results 2018-11-30
Diantha La Vine
 hematopoietic system
 immune system
G ⇒ T intron probably benign
68 UTSW Irf8 0.000 8 120736358-120756694 bp (+) 120743883 Unknown (2;0) no linkage results 2018-11-29
Diantha La Vine
 cellular phenotype
 FACS CD8+ T cells - decreased
 immune system
 MCMV susceptibility
 response to injected CpG DNA - decreased
C ⇒ T nonsense probably null
69 UTSW Hcn1 0.081 13 117602320-117987418 bp (+) 117873905 Autosomal Recessive (1;8)
 Autosomal Semidominant (2;16)
excellent candidate 2018-11-16
Anne Murray
 Blood Pressure: HR Average - decreased
 Blood Pressure: HR Day 2 - decreased
 Blood Pressure: HR Day 3 - decreased
A ⇒ T nonsense probably null
70 UTSW Ifnar1 0.000 16 91485238-91507441 bp (+) 91499537 Autosomal Recessive (7;29) excellent candidate 2018-11-06
Diantha La Vine
 dsDNA induced type I IFN production - decreased
 FACS B cells - decreased
 FACS B:T cells - decreased
 FACS IgD+ B cell percentage - decreased
 FACS IgM+ B cells - decreased
 FACS T cells - increased
 impaired response to dsDNA- type I IFN production by macrophages
C ⇒ T nonsense probably null
71 UTSW Blnk 0.108 19 40928927-40994535 bp (-) 40952391 Unknown (2;0) no linkage results 2018-10-25
Diantha La Vine
 FACS B cells - decreased
 T-dependent humoral response defect- decreased antibody response to rSFV
 T-independent B cell response defect- decreased TNP-specific IgM to TNP-Ficoll immunization
A ⇒ T nonsense probably null
72 UTSW Atp11c 0.112 X 60223290-60592698 bp (-) 60269987 Unknown no linkage results 2018-10-25
Diantha La Vine
 FACS B cells - decreased
 hematopoietic system
 homeostasis/metabolism
 immune system
 liver/biliary system
 reproductive system
G ⇒ A nonsense probably null
73 UTSW Ikzf1 0.000 11 11685003-11772926 bp (+) 11768961 Autosomal Dominant (14;120) potential candidate 2018-10-25
Bruce Beutler
 Blood Pressure: HR Average - decreased
 Blood Pressure: HR Day 2 - decreased
 Blood Pressure: HR Day 3 - decreased
 FACS B cells - decreased
 FACS B:T cells - decreased
 FACS B1 cells - increased
 FACS CD4:CD8 - decreased
 FACS CD4+ T cells in CD3+ T cells - decreased
 FACS CD44+ CD4 T cells - increased
 FACS CD8+ T cells - increased
 FACS CD8+ T cells in CD3+ T cells - increased
 FACS central memory CD4 T cells in CD4 T cells - increased
 FACS central memory CD8 T cells in CD8 T cells - increased
 FACS T cells - increased
C ⇒ T nonsense probably null
74 UTSW Irs1 0.411 1 82233101-82291416 bp (-) 82286967 Autosomal Recessive (7;36) excellent candidate 2018-10-24
Anne Murray
 Body Weight - decreased
 Body Weight (DSS Female) - decreased
 Body Weight (DSS Male) - decreased
 Body Weight (DSS) - decreased
 Body Weight (Female) - decreased
 Body Weight (Male) - decreased
 Fasting Insulin (Male) - increased
A ⇒ T nonsense probably null
75 UTSW Cr2 0.165 1 195136811-195176716 bp (-) 195155888 Autosomal Semidominant (1;4) not good candidate 2018-10-16
Anne Murray
 T-dependent humoral response defect- decreased antibody response to rSFV
A ⇒ T nonsense probably null
76 UTSW Ctss 0.135 3 95526786-95556403 bp (+) 95545384 Autosomal Recessive (2;11) excellent candidate 2018-10-16
Anne Murray
 T-dependent humoral response defect- decreased antibody response to OVA+ alum immunization
 TLR signaling defect: hypersensitivity to PAM3CSK4
 TLR signaling defect: TNF production by macrophages
C ⇒ T nonsense probably null
77 UTSW Cdh23 0.000 10 60302748-60696490 bp (-) 60308056 Unknown no Linkage result 2018-10-11
Diantha La Vine
G ⇒ T nonsense probably null
78 UTSW
has photo
Adamts20 0.233 15 94270163-94465418 bp (-) 94347670 Autosomal Recessive (1;7) excellent candidate 2018-10-05
Diantha La Vine
 pigmentation
 skin/coat/nails
C ⇒ A nonsense probably null
79 UTSW
has photo
Adamts20 0.233 15 94270163-94465418 bp (-) 94326699 Unknown no linkage results 2018-10-05
Diantha La Vine
 pigmentation
 skin/coat/nails
G ⇒ T intron probably benign
80 UTSW
has photo
Adamts20 0.233 15 94270163-94465418 bp (-) 94394622 Unknown no Linkage result 2018-10-05
Diantha La Vine
A ⇒ T nonsense probably null
81 UTSW
has photo
Gk5 0.000 9 96119362-96184608 bp (+) 96140656 Autosomal Recessive (10;65)
 Autosomal Semidominant (1;4)
excellent candidate 2018-09-24
Anne Murray
 Body Weight (BP Female) - increased
 FACS CD44+ CD4 MFI - increased
 FACS CD44+ CD4 T cells - increased
 FACS CD44+ CD8 MFI - increased
 FACS CD44+ CD8 T cells - increased
 FACS CD44+ T cells - increased
 FACS CD44+ T MFI - increased
 FACS central memory CD8 T cells in CD8 T cells - increased
 skin/coat/nails
C ⇒ T nonsense probably null
82 UTSW
has photo
Gk5 0.000 9 96119362-96184608 bp (+) 96176237 Autosomal Recessive (10;87)
 Autosomal Semidominant (1;5)
excellent candidate 2018-09-24
Anne Murray
 Blood Pressure: HR Day 1 - increased
 FACS CD44+ CD4 MFI - increased
 FACS CD44+ CD4 T cells - increased
 FACS CD44+ CD8 MFI - increased
 FACS CD44+ CD8 T cells - increased
 FACS CD44+ T cells - increased
 FACS CD44+ T MFI - increased
 FACS central memory CD8 T cells in CD8 T cells - increased
 skin/coat/nails
C ⇒ T nonsense probably null
83 UTSW Entpd5 0.000 12 84373857-84409029 bp (-) 84382295 Autosomal Recessive (8;37)
 Autosomal Semidominant (1;4)
excellent candidate 2018-09-24
Anne Murray
 125-03 Response - increased
 Body Weight - decreased
 Body Weight (DSS) - decreased
 Body Weight (Female) - decreased
 DSS: sensitive day 10
 DSS: sensitive day 7
 FACS B1 cells - increased
 FACS central memory CD8 T cells in CD8 T cells - increased
 growth/size
 TLR signaling defect: hypersensitivity to PAM3CSK4
G ⇒ A nonsense probably null
84 UTSW Gamt 0.369 10 80258151-80261012 bp (-) 80260724 Autosomal Recessive (3;21) excellent candidate 2018-09-18
Anne Murray
 Body Weight - decreased
 Body Weight (Female) - decreased
 Body Weight (Male) - decreased
T ⇒ A nonsense probably null
85 UTSW Ighe 0.064 12 113271174-113273248 bp (-) 113271374 Autosomal Semidominant (2;9) potential candidate 2018-09-14
Anne Murray
 ratio of OVA-specific IgE over the total IgE - increased
 total IgE level - decreased
G ⇒ A nonsense probably null
86 UTSW Dnajc3 0.241 14 118937976-118981697 bp (+) 118972387 Autosomal Recessive (3;15) excellent candidate 2018-09-14
Anne Murray
 Body Weight - decreased
 DSS: sensitive day 10
 FACS CD44+ CD8 T cells - increased
T ⇒ A nonsense probably null
87 UTSW
has photo
Slc45a2 0.162 15 11000721-11029233 bp (+) 11000855 Autosomal Recessive (1;16) failed initial filter 2018-09-11
Anne Murray
 pigmentation
 skin/coat/nails
T ⇒ A nonsense probably null
88 UTSW Ly96 0.114 1 16688051-16709611 bp (+) 16691716 Autosomal Recessive (6;33) excellent candidate 2018-09-06
Anne Murray
 LPS-induced Necroptosis - decreased
 Macrophage necroptosis: low
 NALP3 inflammasome signaling defect
 Nlrc4 inflammasome: low response
 NLRP3 inflammasome: low response
 TLR signaling defect: hyposensitivity to LPS
 TLR signaling defect: TNF production by macrophages
G ⇒ T nonsense probably null
89 UTSW
has photo
Tshr 0.272 12 91384563-91549808 bp (+) 91538226 Unknown (1;0)
 Autosomal Recessive (2;10)
excellent candidate 2018-08-23
Bruce Beutler
 125-03 Response - increased
 Body Weight - decreased
 endocrine/exocrine gland
 growth/size
C ⇒ A nonsense probably null
90 UTSW Ikzf1 0.000 11 11685003-11772926 bp (+) 11748464 Autosomal Recessive (6;95)
 Autosomal Semidominant (6;65)
excellent candidate 2018-08-23
Diantha La Vine
 Blood Pressure: HR Average - decreased
 Blood Pressure: HR Day 2 - decreased
 Blood Pressure: HR Day 3 - decreased
 FACS B cells - decreased
 FACS CD4:CD8 - decreased
 FACS CD4+ T cells in CD3+ T cells - decreased
 FACS CD8+ T cells - increased
 FACS CD8+ T cells in CD3+ T cells - increased
 FACS central memory CD4 T cells in CD4 T cells - increased
 FACS effector memory CD4 T cells in CD4 T cells - increased
 FACS naive CD4 T cells in CD4 T cells - decreased
 FACS naive CD8 T cells in CD8 T cells - decreased
C ⇒ A nonsense probably null
91 UTSW
has photo
Lyst 0.411 13 13590397-13778803 bp (+) 13696761 Autosomal Recessive (1;3) failed initial filter 2018-08-02
Anne Murray
 pigmentation
 skin/coat/nails
T ⇒ A nonsense probably null
92 UTSW
has photo
Lyst 0.411 13 13590397-13778803 bp (+) 13602026 Unknown no linkage results 2018-08-02
Diantha La Vine
 pigmentation
 skin/coat/nails
T ⇒ G intron probably benign
93 UTSW
has photo
Lyst 0.411 13 13590397-13778803 bp (+) 13647083 Autosomal Recessive (1;1) failed initial filter 2018-08-02
Diantha La Vine
 pigmentation
 skin/coat/nails
T ⇒ A nonsense probably null
94 UTSW Lyst 0.411 13 13590397-13778803 bp (+) 13648802 Autosomal Recessive (1;5) potential candidate 2018-08-02
Diantha La Vine
 pigmentation
 skin/coat/nails
T ⇒ A nonsense probably null
95 UTSW Slc45a2 0.162 15 11000721-11029233 bp (+) 11012667 Unknown no linkage results 2018-08-01
Diantha La Vine
 pigmentation
 skin/coat/nails
C ⇒ T missense probably benign 0.000
96 UTSW Cd22 0.000 7 30865402-30880342 bp (-) 30877787 Unknown no linkage results 2018-07-27
Diantha La Vine
 FACS B cells - decreased
 T-independent B cell response defect- decreased TNP-specific IgM to TNP-Ficoll immunization
G ⇒ A nonsense probably null
97 UTSW
has photo
Kbtbd2 0.000 6 56777524-56797813 bp (-) 56780389 Unknown (1;0)
 Autosomal Recessive (4;30)

 Autosomal Semidominant (1;7)
excellent candidate 2018-07-20
Anne Murray
 30 min GTT hyperglycemic
 Body Weight - decreased
 Body Weight (Female) - decreased
 Body Weight (Male) - decreased
 FACS CD44+ CD8 T cells - increased
 growth/size
 liver/biliary system
G ⇒ A nonsense probably null
98 UTSW Pnp 0.134 14 50931082-50965237 bp (+) 50951506 Autosomal Recessive (2;11) excellent candidate 2018-07-18
Anne Murray
 FACS central memory CD4 T cells in CD4 T cells - increased
 T-dependent humoral response defect- decreased antibody response to rSFV
T ⇒ A nonsense probably null
99 UTSW Pnp 0.134 14 50931082-50965237 bp (+) 50950923 Autosomal Semidominant (1;5) no Linkage result 2018-07-18
Anne Murray
C ⇒ T nonsense probably null
100 UTSW Grid2 0.000 6 63255876-64704323 bp (+) 64395280 Unknown no linkage results 2018-05-22
Anne Murray
 behavior/neurological
T ⇒ A synonymous probably benign
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