Phenotypic Mutations

848 mutations affecting 361 genes are currently displayed.

Mutations Mapped and Identified Based on Phenotype
[records 1 to 100 of 848] per page Full List
 
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1 UTSW
has photohas video
Ctsl 1.000 13 64359337-64370890 bp (-) 64366623 Autosomal Recessive (15;273) excellent candidate 2019-07-18
Diantha La Vine
 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
2 UTSW Prkdc 0.963 16 15637866-15842235 bp (+) 15652552 Autosomal Recessive (5;51)
 Autosomal Semidominant (1;4)
excellent candidate 2019-07-17
Diantha La Vine
 Body Weight - decreased
 Body Weight (DSS) - decreased
 FACS IgD MFI - 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
 TLR signaling defect: hypersensitivity to R848
 TLR signaling defect: TNF production by macrophages
T ⇒ C critical splice donor site probably null
3 UTSW Prkdc 0.963 16 15637866-15842235 bp (+) 15654817 Autosomal Recessive (2;8)
 Autosomal Semidominant (1;6)
good candidate 2019-07-17
Diantha La Vine
 FACS CD44+ CD4 T cells - increased
 post-MCMV FACS CD8+ T cells - decreased
 post-MCMV FACS pDCs - increased
A ⇒ G splice site 4 bp probably null
4 UTSW Prkdc 0.963 16 15637866-15842235 bp (+) 15702157 Unknown no linkage results 2019-07-17
Diantha La Vine
 T-dependent humoral response defect- decreased antibody response to rSFV
 T-independent B cell response defect- decreased TNP-specific IgM to TNP-Ficoll immunization
T ⇒ C splice site 2 bp probably benign
5 UTSW Prkdc 0.963 16 15637866-15842235 bp (+) 15725461 Autosomal Recessive (21;186) excellent candidate (Recruited) 2019-07-17
Diantha La Vine
 FACS B cells - decreased
 FACS B:T cells - decreased
 FACS B1 cells - decreased
 FACS B220 MFI - decreased
 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+ 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
G ⇒ T critical splice donor site 1 bp probably null
6 UTSW Prkdc 0.963 16 15637866-15842235 bp (+) 15740332 Autosomal Recessive (4;19) failed initial filter 2019-07-17
Diantha La Vine
 FACS B cells - decreased
 FACS B1b cells - increased
 FACS neutrophils - increased
 TLR signaling defect: hypersensitivity to R848
 TLR signaling defect: TNF production by macrophages
T ⇒ C critical splice donor site 2 bp probably null
7 UTSW Prkdc 0.963 16 15637866-15842235 bp (+) 15786050 Autosomal Recessive (20;325) excellent candidate (Recruited) 2019-07-17
Diantha La Vine
 Blood Pressure: HR Day 3 - decreased
 Blood Pressure: MBP Average - decreased
 FACS B cells - decreased
 FACS B:T cells - increased
 FACS B1 cells - decreased
 FACS B220 MFI - 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 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
T ⇒ C critical splice donor site 2 bp probably null
8 UTSW Prkdc 0.963 16 15637866-15842235 bp (+) 15795094 Autosomal Recessive (1;4) potential candidate (Recruited) 2019-07-17
Diantha La Vine
 post-MCMV FACS pDCs - increased
T ⇒ C missense probably benign 0.000
9 UTSW Prkdc 0.963 16 15637866-15842235 bp (+) 15831282 Autosomal Recessive (23;272) excellent candidate 2019-07-17
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 CD11c+ DCs - increased
 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
10 UTSW Prkdc 0.963 16 15637866-15842235 bp (+) 15829697 Autosomal Recessive (1;4)
 Autosomal Semidominant (1;4)
excellent candidate (Recruited) 2019-07-17
Diantha La Vine
 Body Weight (Female) - increased
 FACS CD44+ CD4 MFI - increased
A ⇒ T missense possibly damaging 0.861
11 UTSW Prkdc 0.963 16 15637866-15842235 bp (+) 15808058 Autosomal Dominant (1;4) excellent candidate (Recruited) 2019-07-17
Diantha La Vine
 FACS effector memory CD4 T cells in CD4 T cells - increased
T ⇒ C missense probably benign 0.006
12 UTSW Prkdc 0.963 16 15637866-15842235 bp (+) 15783079 Autosomal Recessive (1;4) potential candidate 2019-07-17
Diantha La Vine
 post-MCMV FACS CD44+ T cells - increased
A ⇒ G missense probably benign 0.001
13 UTSW Prkdc 0.963 16 15637866-15842235 bp (+) 15768025 Unknown no Linkage result 2019-07-17
Diantha La Vine
A ⇒ T missense probably damaging 0.981
14 UTSW Prkdc 0.963 16 15637866-15842235 bp (+) 15759605 Autosomal Recessive (2;11) excellent candidate 2019-07-17
Diantha La Vine
 FACS effector memory CD4 T cells in CD4 T cells - increased
 T-dependent humoral response defect- decreased antibody response to rSFV
G ⇒ A missense probably damaging 1.000
15 UTSW Prkdc 0.963 16 15637866-15842235 bp (+) 15752829 Autosomal Recessive (24;363) excellent candidate 2019-07-17
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+ 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
16 UTSW Prkdc 0.963 16 15637866-15842235 bp (+) 15752764 Autosomal Semidominant (1;4) good candidate 2019-07-17
Diantha La Vine
 FACS B1 cells - decreased
T ⇒ C missense probably damaging 0.966
17 UTSW Prkdc 0.963 16 15637866-15842235 bp (+) 15734922 Autosomal Semidominant (1;4) not good candidate 2019-07-17
Diantha La Vine
 FACS CD8+ T cells in CD3+ T cells - decreased
A ⇒ T missense probably benign 0.012
18 UTSW Prkdc 0.963 16 15637866-15842235 bp (+) 15719433 Autosomal Dominant (3;14)
 Autosomal Semidominant (3;12)
good candidate 2019-07-17
Diantha La Vine
 post-MCMV FACS B cells - increased
 post-MCMV FACS B1a cells in B1 cells - decreased
 post-MCMV FACS B1b cells in B1 cells - increased
 post-MCMV FACS effector memory CD4 T cells in CD4 T cells - decreased
 post-MCMV FACS IgD+ B cell percentage - increased
 post-MCMV FACS IgM+ B cells - increased
T ⇒ C missense probably benign 0.004
19 UTSW Prkdc 0.963 16 15637866-15842235 bp (+) 15717801 Autosomal Semidominant (1;4) excellent candidate (Recruited) 2019-07-17
Diantha La Vine
 FACS CD44+ CD8 MFI - increased
T ⇒ A missense probably damaging 1.000
20 UTSW Prkdc 0.963 16 15637866-15842235 bp (+) 15687404 Autosomal Recessive (6;34) good candidate 2019-07-17
Diantha La Vine
 post-MCMV FACS CD44+ CD4 MFI - increased
 post-MCMV FACS CD44+ CD8 MFI - increased
 post-MCMV FACS CD44+ CD8 T cells - increased
 post-MCMV FACS CD44+ T cells - increased
 post-MCMV FACS CD44+ T MFI - increased
 post-MCMV FACS naive CD8 T cells in CD8 T cells - decreased
A ⇒ T missense probably benign 0.000
21 UTSW
has photohas video
Grm1 0.112 10 10686059-11082356 bp (-) 10741508 Autosomal Recessive (1;2) failed initial filter 2019-06-27
Diantha La Vine
 behavior/neurological
 growth/size
 life span-post-weaning/aging
 skeleton phenotype
G ⇒ T nonsense probably null
22 UTSW
has photo
Hps5 0.227 7 46760466-46796064 bp (-) 46769351 Autosomal Recessive (1;2) failed initial filter 2019-06-25
Diantha La Vine
 pigmentation
 skin/coat/nails
G ⇒ A nonsense probably null
23 UTSW
has photo
Hps5 0.227 7 46760466-46796064 bp (-) 46784145 Unknown no linkage results 2019-06-25
Diantha La Vine
 pigmentation
 skin/coat/nails
T ⇒ A unclassified probably benign
24 UTSW
has photo
Hps5 0.227 7 46760466-46796064 bp (-) 46783469 Autosomal Dominant (2;19)
 Autosomal Recessive (2;6)
not good candidate 2019-06-25
Diantha La Vine
 dsDNA induced type I IFN production - increased
 FACS CD11c+ DCs - decreased
 FACS IgM MFI - decreased
 impaired response to dsDNA- type I IFN production by macrophages
 pigmentation
 skin/coat/nails
A ⇒ G critical splice donor site 2 bp probably null
25 UTSW
has photo
Hps5 0.227 7 46760466-46796064 bp (-) 46777075 Unknown (1;0) no linkage results 2019-06-25
Diantha La Vine
 DSS: sensitive day 7
 immune system
 MCMV susceptibility
 pigmentation
 skin/coat/nails
 vision/eye
A ⇒ G intron 2 bp probably benign
26 UTSW
has photo
Kit 0.865 5 75574916-75656722 bp (+) 75652808 Autosomal Dominant (1;6) failed initial filter 2019-06-23
Diantha La Vine
 pigmentation
 skin/coat/nails
T ⇒ A missense probably damaging 1.000
27 UTSW Kit 0.865 5 75574916-75656722 bp (+) 75649550 Unknown no linkage results 2019-06-23
Diantha La Vine
 hematopoietic system
 immune system
 pigmentation
 reproductive system
 skin/coat/nails
A ⇒ T missense probably damaging 1.000
28 UTSW Kit 0.865 5 75574916-75656722 bp (+) 75645875 Unknown no linkage results 2019-06-23
Diantha La Vine
 hematopoietic system
 immune system
 pigmentation
 reproductive system
 skin/coat/nails
A ⇒ G missense probably damaging 1.000
29 UTSW
has photo
Mbtps1 1.000 8 119508156-119558735 bp (-) 119529030 Unknown (1;0) no linkage results 2019-06-17
External Program
 Body Weight - decreased
 DSS: sensitive day 7
 embryogenesis
 homeostasis/metabolism
 immune system
 lethality-embryonic/perinatal
 pigmentation
 reproductive system
 skin/coat/nails
T ⇒ C missense probably damaging 1.000
30 UTSW
has photo
Gk5 0.000 9 96119362-96184608 bp (+) 96140629 Unknown (1;0)
 Autosomal Recessive (2;5)
excellent candidate 2019-06-17
External Program
 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
GCC ⇒ GC frame shift probably null
31 UTSW Bcl10 0.000 3 145922804-145934356 bp (+) 145930587 Autosomal Dominant (1;4)
 Autosomal Recessive (14;151)

 Autosomal Semidominant (2;11)
excellent candidate 2019-06-17
External Program
 FACS B cells - decreased
 FACS B:T cells - decreased
 FACS B1 cells - decreased
 FACS B1a cells in B1 cells - decreased
 FACS B1b cells - decreased
 FACS B1b cells in B1 cells - decreased
 FACS B2 cells - increased
 FACS CD4+ T cells - increased
 FACS CD8+ T cells - increased
 FACS central memory CD4 T cells in CD4 T cells - decreased
 FACS central memory CD8 T cells in CD8 T cells - decreased
 FACS IgD+ B cell percentage - decreased
 FACS IgM MFI - increased
 FACS IgM+ B cells - decreased
 FACS macrophages - decreased
 FACS neutrophils - decreased
 FACS NK cells - decreased
 FACS T cells - increased
 IgG1 response to a Cysteine Protease (Papain) - decreased
 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
A ⇒ G missense probably damaging 0.999
32 UTSW Wdr41 0.000 13 94976344-95023314 bp (+) 95015217 Autosomal Recessive (13;82)
 Autosomal Semidominant (3;16)
excellent candidate 2019-06-15
External Program
 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
T ⇒ A critical splice donor site probably null
33 UTSW Pax5 1.000 4 44524757-44710487 bp (-) 44710407 Autosomal Recessive (13;215)
 Autosomal Semidominant (2;32)
excellent candidate 2019-06-11
Diantha La Vine
 FACS B cells - decreased
 FACS B:T cells - decreased
 FACS B1 cells - decreased
 FACS B220 MFI - decreased
 FACS CD4+ T cells - increased
 FACS CD44+ CD4 MFI - decreased
 FACS CD8+ T cells - increased
 FACS IgD MFI - decreased
 FACS IgD+ B cell percentage - decreased
 FACS IgM MFI - decreased
 FACS IgM+ B cells - decreased
 FACS T cells - 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
A ⇒ G start codon destroyed probably null 0.960
34 UTSW Pax5 1.000 4 44524757-44710487 bp (-) 44697630 Autosomal Recessive (1;4)
 Autosomal Semidominant (1;4)
good candidate 2019-06-11
Diantha La Vine
 FACS B220 MFI - decreased
 FACS IgD MFI - decreased
T ⇒ C missense probably damaging 1.000
35 UTSW Pax5 1.000 4 44524757-44710487 bp (-) 44679526 Autosomal Dominant (1;4) potential candidate 2019-06-11
Diantha La Vine
 FACS IgD MFI - decreased
T ⇒ C missense probably damaging 0.995
36 UTSW Pax5 1.000 4 44524757-44710487 bp (-) 44679494 Autosomal Recessive (2;21)
 Autosomal Semidominant (1;7)
good candidate 2019-06-11
Diantha La Vine
 FACS B1 cells - increased
 FACS B1a cells in B1 cells - decreased
 FACS B1b cells in B1 cells - decreased
T ⇒ A missense probably damaging 0.996
37 UTSW Ptprc 0.265 1 138062861-138175708 bp (-) 138113678 Autosomal Dominant (1;14)
 Autosomal Recessive (18;122)

 Autosomal Semidominant (2;12)
excellent candidate 2019-06-06
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
38 UTSW Ptprc 0.265 1 138062861-138175708 bp (-) 138137493 Unknown no linkage results 2019-06-06
Diantha La Vine
 FACS CD4+ T cells - decreased
 FACS CD8+ T cells - decreased
 hematopoietic system
 immune system
T ⇒ A intron probably benign
39 UTSW Ptprc 0.265 1 138062861-138175708 bp (-) 138094299 Autosomal Recessive (20;106)
 Autosomal Semidominant (1;6)
excellent candidate 2019-06-06
Diantha La Vine
 DSS: sensitive day 7
 FACS B cells - decreased
 FACS B1 cells - increased
 FACS B1a cells in B1 cells - decreased
 FACS B1b cells - increased
 FACS B1b cells in B1 cells - decreased
 FACS B2 cells - decreased
 FACS B220 MFI - decreased
 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 IgD MFI - decreased
 FACS IgD+ B cell percentage - decreased
 FACS IgM MFI - decreased
 FACS IgM+ B cells - decreased
 FACS naive CD4 T cells in CD4 T cells - decreased
 FACS NK cells - increased
 FACS T cells - decreased
 T-dependent humoral response defect- decreased antibody response to rSFV
A ⇒ G missense probably damaging 0.971
40 UTSW Ptprc 0.265 1 138062861-138175708 bp (-) 138083567 Autosomal Dominant (1;4)
 Autosomal Semidominant (1;4)
excellent candidate (Recruited) 2019-06-06
Diantha La Vine
 FACS B1b cells in B1 cells - decreased
 total IgE level - decreased
T ⇒ A missense probably damaging 1.000
41 UTSW Ptprc 0.265 1 138062861-138175708 bp (-) 138078451 Autosomal Recessive (1;4)
 Autosomal Semidominant (3;19)
excellent candidate 2019-06-06
Diantha La Vine
 FACS B1 cells - increased
 FACS CD44+ CD8 MFI - increased
 FACS central memory CD8 T cells in CD8 T cells - increased
 FACS naive CD8 T cells in CD8 T cells - decreased
A ⇒ T missense possibly damaging 0.917
42 UTSW Ptprc 0.265 1 138062861-138175708 bp (-) 138071249 Autosomal Dominant (3;13)
 Autosomal Semidominant (3;13)
excellent candidate 2019-06-06
Diantha La Vine
 Blood Pressure: SBP Average - increased
 Blood Pressure: SBP Day 2 - increased
 FACS CD44+ CD4 MFI - increased
 FACS CD44+ T cells - increased
 FACS CD44+ T MFI - increased
A ⇒ T missense probably damaging 0.984
43 UTSW Ptprc 0.265 1 138062861-138175708 bp (-) 138067890 Autosomal Recessive (5;23)
 Autosomal Semidominant (5;33)
excellent candidate 2019-06-06
Diantha La Vine
 FACS B1 cells - increased
 FACS B1a cells in B1 cells - decreased
 FACS B1b cells - decreased
 FACS B220 MFI - decreased
 FACS macrophages - decreased
 FACS naive CD8 T cells in CD8 T cells - decreased
A ⇒ C missense probably damaging 1.000
44 UTSW Ptprc 0.265 1 138062861-138175708 bp (-) 138068401 Unknown (1;0)
 Autosomal Recessive (50;489)

 Autosomal Semidominant (7;48)
excellent candidate 2019-06-06
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 NK T cells - decreased
 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
45 UTSW Ptprc 0.265 1 138062861-138175708 bp (-) 138067885 Autosomal Dominant (4;31)
 Autosomal Semidominant (2;8)
excellent candidate (Recruited) 2019-06-06
Diantha La Vine
 FACS B1 cells - increased
 FACS B220 MFI - decreased
 FACS CD44+ CD8 MFI - increased
 FACS naive CD8 T cells in CD8 T cells - decreased
C ⇒ T critical splice donor site 1 bp probably null
46 APN Ptprc 0.265 1 138062861-138175708 bp (-) 138083790 Unknown no linkage results 2019-06-06
Diantha La Vine
 FACS B cells - decreased
 FACS CD4+ T cells - decreased
 FACS CD8+ T cells - decreased
 hematopoietic system
 immune system
A ⇒ T splice site probably benign
47 UTSW Ptprc 0.265 1 138062861-138175708 bp (-) 138101041 Autosomal Recessive (17;235)
 Autosomal Semidominant (1;17)
excellent candidate 2019-06-06
Diantha La Vine
 FACS B cells - decreased
 FACS B:T cells - decreased
 FACS B1 cells - increased
 FACS B220 MFI - decreased
 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 naive CD4 T cells in CD4 T cells - decreased
 FACS naive CD8 T cells in CD8 T cells - decreased
 FACS T cells - decreased
C ⇒ T critical splice donor site probably null
48 UTSW Ptprc 0.265 1 138062861-138175708 bp (-) 138113562 Autosomal Recessive (5;82)
 Autosomal Semidominant (9;66)
excellent candidate 2019-06-06
Diantha La Vine
 Blood Pressure: SBP Day 1 - decreased
 FACS B cells - decreased
 FACS B:T cells - decreased
 FACS B1 cells - increased
 FACS B220 MFI - decreased
 FACS CD44+ CD4 MFI - 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 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 NK cells - decreased
A ⇒ T critical splice donor site 2 bp probably null
49 UTSW Trp53bp1 0.000 2 121193281-121271407 bp (-) 121207887 Autosomal Recessive (8;62)
 Autosomal Semidominant (1;4)
excellent candidate 2019-06-03
Diantha La Vine
 Body Weight - decreased
 FACS CD44+ CD8 MFI - increased
 FACS central memory CD8 T cells in CD8 T cells - increased
 FACS IgD MFI - decreased
 FACS IgD+ B cell percentage - decreased
 FACS naive CD8 T cells in CD8 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
G ⇒ T missense probably damaging 1.000
50 UTSW Trp53bp1 0.000 2 121193281-121271407 bp (-) 121211313 Autosomal Recessive (1;6)
 Autosomal Semidominant (1;4)
excellent candidate 2019-06-03
Diantha La Vine
 FACS B2 cells - increased
 FACS IgD MFI - decreased
A ⇒ T missense probably damaging 1.000
51 UTSW Trp53bp1 0.000 2 121193281-121271407 bp (-) 121228606 Autosomal Recessive (1;5) excellent candidate (Recruited) 2019-06-03
Diantha La Vine
 FACS IgD MFI - decreased
T ⇒ A nonsense probably null
52 UTSW Trp53bp1 0.000 2 121193281-121271407 bp (-) 121251868 Autosomal Recessive (4;18) excellent candidate 2019-06-03
Diantha La Vine
 FACS B:T cells - increased
 FACS CD4+ T cells - decreased
 FACS CD44+ T cells - increased
 FACS CD44+ T MFI - increased
 FACS IgD MFI - decreased
 FACS T cells - decreased
C ⇒ A missense probably null 0.125
53 UTSW Trp53bp1 0.000 2 121193281-121271407 bp (-) 121270319 Autosomal Dominant (1;4)
 Autosomal Recessive (1;4)
excellent candidate 2019-06-03
Diantha La Vine
 30 Min. Insulin (Male) - decreased
 FACS IgD MFI - decreased
A ⇒ T splice site probably null
54 UTSW Rorc 0.657 3 94372794-94398276 bp (+) 94377609 Autosomal Recessive (5;26)
 Autosomal Semidominant (3;14)
excellent candidate 2019-06-03
Diantha La Vine
 Body Weight (Male) - increased
 FACS B:T cells - increased
 FACS CD4+ T cells - decreased
 FACS CD4+ T cells in CD3+ T cells - decreased
 FACS CD8+ T cells - decreased
 FACS NK cells - increased
 FACS T cells - decreased
 T-dependent humoral response defect- decreased antibody response to rSFV
T ⇒ C splice site 6 bp probably benign
55 UTSW Rorc 0.657 3 94372794-94398276 bp (+) 94387193 Autosomal Recessive (14;102) excellent candidate 2019-06-03
Diantha La Vine
 FACS B:T cells - increased
 FACS B1a cells - increased
 FACS B1b cells - increased
 FACS B2 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 CD8+ T cells in CD3+ 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 macrophages - increased
 FACS naive CD8 T cells in CD8 T cells - decreased
 T-dependent humoral response defect- decreased antibody response to rSFV
G ⇒ A missense probably damaging 1.000
56 UTSW Rorc 0.657 3 94372794-94398276 bp (+) 94397302 Autosomal Dominant (1;4)
 Autosomal Recessive (1;8)
excellent candidate 2019-06-03
Diantha La Vine
 IgE response to a Cysteine Protease (Papain) - increased
 T-dependent humoral response defect- decreased antibody response to rSFV
T ⇒ A nonsense probably null
57 UTSW Ltbp3 0.178 19 5740904-5758532 bp (+) 5747688 Unknown no linkage results 2019-05-30
Diantha La Vine
 craniofacial
 growth/size
 limbs/digits/tail phenotype
 skeleton phenotype
T ⇒ C missense probably damaging 0.999
58 UTSW Adgrf5 0.157 17 43360451-43459557 bp (+) 43450983 Autosomal Recessive (1;5) not good candidate 2019-05-28
Diantha La Vine
 30 min GTT hyperglycemic
A ⇒ T missense probably damaging 0.957
59 APN Dock8 0.162 19 24999529-25202432 bp (+) 25127711 Unknown no linkage results 2019-05-26
Diantha La Vine
 FACS B cells - decreased
 FACS CD4+ T cells - decreased
 FACS CD8+ T cells - decreased
 immune system
T ⇒ C critical splice donor site 2 bp probably benign
60 UTSW Dock8 0.162 19 24999529-25202432 bp (+) 25169501 Autosomal Recessive (15;109)
 Autosomal Semidominant (1;4)
excellent candidate 2019-05-26
Diantha La Vine
 FACS B:T cells - increased
 FACS B1 cells - decreased
 FACS B220 MFI - decreased
 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 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
T ⇒ C critical splice donor site 2 bp probably null
61 APN Dock8 0.162 19 24999529-25202432 bp (+) 25183609 Unknown no linkage results 2019-05-26
Diantha La Vine
 FACS B cells - decreased
 FACS CD4+ T cells - decreased
 FACS CD8+ T cells - decreased
 immune system
T ⇒ C missense probably damaging 1.000
62 UTSW Dock8 0.162 19 24999529-25202432 bp (+) 25149831 Autosomal Dominant (1;4) excellent candidate (Recruited) 2019-05-26
Diantha La Vine
 T-dependent humoral response defect- decreased antibody response to OVA+ alum immunization
T ⇒ C missense probably benign 0.000
63 UTSW Dock8 0.162 19 24999529-25202432 bp (+) 25051563 Autosomal Dominant (1;4) excellent candidate (Recruited) 2019-05-26
Diantha La Vine
 FACS CD8+ T cells - decreased
A ⇒ G missense probably benign 0.002
64 APN Nfkb2 0.437 19 46304737-46312090 bp (+) Unknown no linkage results 2019-05-26
Diantha La Vine
 FACS B cells - decreased
 immune system
splice acceptor site 4 bp
65 UTSW Nfkb2 0.437 19 46304737-46312090 bp (+) 46307720 Autosomal Recessive (15;213)
 Autosomal Semidominant (1;14)
excellent candidate 2019-05-26
Diantha La Vine
 FACS B cells - decreased
 FACS B:T cells - decreased
 FACS B1 cells - increased
 FACS B220 MFI - decreased
 FACS CD4:CD8 - decreased
 FACS CD4+ T cells - increased
 FACS CD4+ T cells in CD3+ T cells - decreased
 FACS CD44+ CD4 MFI - decreased
 FACS CD44+ CD8 MFI - decreased
 FACS CD44+ T MFI - decreased
 FACS CD8+ T cells - increased
 FACS CD8+ T cells in CD3+ T cells - increased
 FACS effector memory CD8 T cells in CD8 T cells - decreased
 FACS naive CD8 T cells in CD8 T cells - increased
 FACS NK cells - decreased
 FACS T cells - increased
T ⇒ C critical splice donor site 2 bp probably null
66 UTSW Nfkb2 0.437 19 46304737-46312090 bp (+) 46311626 Unknown (1;0)
 Autosomal Recessive (1;4)
not good candidate 2019-05-26
Diantha La Vine
 FACS B1a cells - increased
A ⇒ T missense possibly damaging 0.956
67 UTSW Nfkb2 0.437 19 46304737-46312090 bp (+) 46308439 Autosomal Semidominant (3;13) excellent candidate 2019-05-26
Diantha La Vine
 FACS CD4+ T cells - increased
 FACS CD8+ T cells - increased
 FACS T cells - increased
A ⇒ G missense probably damaging 0.991
68 UTSW Atm 0.816 9 53439149-53536740 bp (-) 53479673 Autosomal Recessive (4;18)
 Autosomal Semidominant (1;4)
excellent candidate (Recruited) 2019-05-25
Diantha La Vine
 FACS B:T cells - increased
 FACS B1 cells - increased
 NALP3 inflammasome signaling defect
 NLRP3 inflammasome: low response
 phagocytosis in PECs - decreased
A ⇒ T missense probably damaging 0.994
69 UTSW Atm 0.816 9 53439149-53536740 bp (-) 53488587 Autosomal Recessive (8;101) excellent candidate 2019-05-25
Diantha La Vine
 FACS B:T cells - increased
 FACS CD4+ T cells - decreased
 FACS CD44+ CD8 MFI - increased
 FACS CD44+ T MFI - 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
A ⇒ G missense probably damaging 1.000
70 UTSW Atm 0.816 9 53439149-53536740 bp (-) 53503018 Autosomal Semidominant (1;4) good candidate (Recruited) 2019-05-25
Diantha La Vine
 FACS CD44+ CD8 MFI - increased
T ⇒ C missense probably damaging 0.997
71 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
72 UTSW Atm 0.816 9 53439149-53536740 bp (-) 53531648 Unknown (2;0) no Linkage result 2019-05-25
Diantha La Vine
A ⇒ G missense probably damaging 1.000
73 UTSW
has photo
Mc4r 0.070 18 66857715-66860472 bp (-) 66859821 Autosomal Recessive (4;28)
 Autosomal Semidominant (3;20)
excellent candidate 2019-05-25
Diantha La Vine
 125-03 Response - decreased
 adipose tissue
 Body Weight - increased
 Body Weight (Female) - increased
 Body Weight (Male) - increased
 growth/size
 MTT Value of PECs - decreased
 T-dependent humoral response defect- increased antibody response to rSFV
T ⇒ A missense probably damaging 0.999
74 UTSW Mc4r 0.070 18 66857715-66860472 bp (-) 66859847 Autosomal Recessive (2;12) excellent candidate 2019-05-25
Diantha La Vine
 adipose tissue
 Body Weight - increased
 Body Weight (DSS) - increased
 growth/size
A ⇒ T missense probably damaging 0.999
75 UTSW Mc4r 0.070 18 66857715-66860472 bp (-) 66859856 Autosomal Dominant (1;4)
 Autosomal Recessive (2;9)

 Autosomal Semidominant (4;24)
excellent candidate 2019-05-25
Diantha La Vine
 Body Weight - increased
 Body Weight (Female) - increased
 Body Weight (Male) - increased
 Motor: Rotarod Weight - increased
T ⇒ A missense probably damaging 1.000
76 UTSW
has photo
Mc4r 0.070 18 66857715-66860472 bp (-) 66859142 Unknown no linkage results 2019-05-25
Diantha La Vine
 adipose tissue
 growth/size
A ⇒ G missense probably damaging 1.000
77 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
78 UTSW Mc4r 0.070 18 66857715-66860472 bp (-) 66859488 Autosomal Recessive (1;5)
 Autosomal Semidominant (5;27)
excellent candidate 2019-05-25
Diantha La Vine
 30 Min. Insulin - increased
 Body Weight - increased
 Body Weight (Male) - increased
 Fasting Insulin - increased
 growth/size
T ⇒ A missense probably damaging 1.000
79 UTSW Klhl6 0.074 16 19946496-19983037 bp (-) 19956966 Autosomal Dominant (3;13)
 Autosomal Semidominant (3;12)
failed initial filter 2019-05-24
Anne Murray
 FACS B cells - decreased
 FACS B:T cells - decreased
 FACS CD4+ T cells - increased
 FACS IgD+ B cell percentage - decreased
 FACS IgM+ B cells - decreased
 FACS T cells - increased
GT ⇒ G frame shift probably null
80 UTSW Klhl6 0.074 16 19946496-19983037 bp (-) 19957028 Autosomal Recessive (3;13)
 Autosomal Semidominant (1;5)
excellent candidate (Recruited) 2019-05-24
Diantha La Vine
 FACS CD4+ T cells - increased
 FACS IgD MFI - increased
 FACS IgD+ B cell percentage - decreased
 FACS T cells - increased
C ⇒ T missense probably damaging 0.978
81 UTSW Klhl6 0.074 16 19946496-19983037 bp (-) 19949447 Autosomal Dominant (1;4)
 Autosomal Recessive (1;7)
excellent candidate (Recruited) 2019-05-24
Diantha La Vine
 FACS B220 MFI - decreased
 FACS IgD MFI - increased
T ⇒ A splice site 3 bp probably null
82 UTSW Klhl6 0.074 16 19946496-19983037 bp (-) 19947098 Autosomal Semidominant (1;4) potential candidate (Recruited) 2019-05-24
Diantha La Vine
 FACS B1 cells - increased
T ⇒ C missense probably damaging 0.998
83 UTSW Klhl6 0.074 16 19946496-19983037 bp (-) 19948127 Autosomal Recessive (1;4) good candidate (Recruited) 2019-05-24
Diantha La Vine
 FACS B1 cells - increased
A ⇒ T missense probably damaging 1.000
84 UTSW Klhl6 0.074 16 19946496-19983037 bp (-) 19957043 Autosomal Recessive (1;4)
 Autosomal Semidominant (4;25)
excellent candidate 2019-05-24
Diantha La Vine
 FACS B1a cells - increased
 FACS CD4+ T cells - increased
 FACS CD8+ T cells - increased
 FACS T cells - increased
 IgE response to a Cysteine Protease (Papain) - increased
A ⇒ T missense possibly damaging 0.555
85 UTSW Klhl6 0.074 16 19946496-19983037 bp (-) 19957139 Autosomal Recessive (4;26) excellent candidate 2019-05-24
Diantha La Vine
 FACS B:T cells - decreased
 FACS CD4+ T cells - increased
 FACS CD8+ T cells - increased
 FACS T cells - increased
T ⇒ A missense probably damaging 1.000
86 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
87 UTSW Dock2 0.000 11 34226815-34783892 bp (-) 34262445 Autosomal Semidominant (2;9) good candidate 2019-05-23
Anne Murray
 FACS CD8+ T cells - increased
 FACS CD8+ T cells in CD3+ T cells - increased
T ⇒ G missense probably benign 0.000
88 UTSW Msh6 1.000 17 87975050-87990883 bp (+) 87980223 Autosomal Recessive (1;20) 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
89 UTSW Pappa 0.816 4 65124174-65357509 bp (+) 65297257 Autosomal Recessive (3;12) excellent candidate 2019-05-22
Anne Murray
 Body Weight - decreased
 Body Weight (Female) - decreased
 FACS CD8a+ DCs (gated in CD11c+ cells) - increased
T ⇒ A missense probably damaging 1.000
90 UTSW Alms1 0.000 6 85587531-85702753 bp (+) 85620369 Autosomal Recessive (3;9) good candidate 2019-05-22
Anne Murray
 Body Weight - increased
 Body Weight (Female) - increased
 Body Weight (Male) - increased
 FACS NK cells - increased
A ⇒ T nonsense probably null
91 UTSW
has photo
Alms1 0.000 6 85587531-85702753 bp (+) 85627934 Autosomal Dominant (1;1)
 Autosomal Recessive (17;123)

 Autosomal Semidominant (3;10)
excellent candidate 2019-05-22
Diantha La Vine
 30 min GTT hyperglycemic
 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
 FACS CD11b+ DCs (gated in CD11c+ cells) - 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
92 UTSW Alms1 0.000 6 85587531-85702753 bp (+) 85628735 Autosomal Recessive (19;154) 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
93 UTSW Alms1 0.000 6 85587531-85702753 bp (+) 85677990 Autosomal Recessive (9;66)
 Autosomal Semidominant (2;9)
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
94 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
95 UTSW Alms1 0.000 6 85587531-85702753 bp (+) 85619712 Autosomal Recessive (3;14) excellent candidate 2019-05-22
Diantha La Vine
 Body Weight - increased
 Body Weight (BP Female) - increased
 Body Weight (Female) - increased
 Body Weight (Male) - increased
T ⇒ C missense probably benign 0.004
96 UTSW Pappa 0.816 4 65124174-65357509 bp (+) 65314796 Unknown (2;0)
 Autosomal Dominant (1;1)

 Autosomal Recessive (5;31)
excellent candidate (Recruited) 2019-05-22
Diantha La Vine
 Body Weight - decreased
 Body Weight (Female) - decreased
 TLR signaling defect: hypersensitivity to LPS
 TLR signaling defect: hypersensitivity to PAM3CSK4
 TLR signaling defect: hypersensitivity to R848
 TLR signaling defect: TNF production by macrophages
G ⇒ A splice site 5 bp probably null
97 UTSW Pappa 0.816 4 65124174-65357509 bp (+) 65314587 Autosomal Dominant (1;4) not good candidate (Recruited) 2019-05-22
Diantha La Vine
 Body Weight (Male) - decreased
A ⇒ G missense probably benign 0.055
98 UTSW Pappa 0.816 4 65124174-65357509 bp (+) 65124891 Autosomal Recessive (24;205) excellent candidate 2019-05-22
Diantha La Vine
 Body Weight - decreased
 Body Weight (BP Male) - decreased
 Body Weight (BP) - decreased
 Body Weight (Male) - decreased
 Motor: Rotarod Weight - decreased
C ⇒ A missense probably damaging 0.978
99 UTSW Dock2 0.000 11 34226815-34783892 bp (-) 34732371 Autosomal Dominant (2;7) excellent candidate (Recruited) 2019-05-21
Diantha La Vine
 FACS B1b cells - decreased
 FACS NK cells - increased
T ⇒ G missense possibly damaging 0.813
100 UTSW Dock2 0.000 11 34226815-34783892 bp (-) 34708793 Autosomal Recessive (5;24) excellent candidate 2019-05-21
Diantha La Vine
 FACS B1b cells in B1 cells - increased
 FACS CD4:CD8 - decreased
 FACS CD4+ T cells - decreased
 FACS CD4+ T cells in CD3+ T cells - decreased
 FACS CD8+ T cells in CD3+ T cells - increased
T ⇒ C missense probably damaging 1.000
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