Phenotypic Mutations

518 mutations affecting 270 genes are currently displayed.

Mutations Mapped and Identified Based on Phenotype
[records 1 to 100 of 518] per page Full List
 
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1 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
2 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
3 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
4 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
5 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
6 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
7 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
8 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
9 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
10 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
11 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
12 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
13 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
14 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
15 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
16 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
17 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
18 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
19 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
20 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
21 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
22 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
23 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
24 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
25 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
26 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
27 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
28 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
29 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
30 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
31 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
32 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
33 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
34 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
35 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
36 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
37 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
38 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
39 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
40 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
41 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
42 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
43 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
44 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
45 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
46 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
47 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
48 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
49 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
50 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
51 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
52 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
53 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
54 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
55 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
56 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
57 UTSW Dock2 0.000 11 34226815-34783892 bp (-) 34689760 Autosomal Recessive (3;14)
 Autosomal Semidominant (3;18)
excellent candidate 2019-05-21
Diantha La Vine
 FACS B1 cells - increased
 FACS B1a cells in B1 cells - decreased
 FACS B220 MFI - decreased
 FACS CD4:CD8 - decreased
 FACS CD4+ T cells in CD3+ T cells - decreased
 FACS CD8+ T cells in CD3+ T cells - increased
A ⇒ T missense probably damaging 0.999
58 UTSW Dock2 0.000 11 34226815-34783892 bp (-) 34503413 Autosomal Dominant (1;5)
 Autosomal Recessive (7;61)

 Autosomal Semidominant (6;61)
excellent candidate 2019-05-21
Diantha La Vine
 FACS B cells - decreased
 FACS B1 cells - increased
 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 - increased
 FACS CD8+ T cells in CD3+ 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 T cells - decreased
A ⇒ T missense probably damaging 0.999
59 UTSW Dock2 0.000 11 34226815-34783892 bp (-) 34294286 Autosomal Dominant (3;13)
 Autosomal Semidominant (1;4)
good candidate (Recruited) 2019-05-21
Diantha La Vine
 Body Weight - decreased
 FACS B1a cells in B1 cells - decreased
 FACS B1b cells in B1 cells - increased
 post-MCMV FACS B1b cells in B1 cells - increased
T ⇒ C missense probably benign 0.253
60 UTSW Dock2 0.000 11 34226815-34783892 bp (-) 34262388 Autosomal Recessive (3;14)
 Autosomal Semidominant (2;9)
good candidate (Recruited) 2019-05-21
Diantha La Vine
 FACS CD44+ CD4 T cells - increased
 FACS CD44+ CD8 T cells - increased
 FACS CD44+ T cells - increased
 FACS CD8+ T cells - increased
 FACS T cells - increased
T ⇒ C missense probably null 0.795
61 UTSW Dock2 0.000 11 34226815-34783892 bp (-) 34256562 Autosomal Dominant (1;4)
 Autosomal Semidominant (1;5)
good candidate (Recruited) 2019-05-21
Diantha La Vine
 FACS B:T cells - decreased
 FACS CD8+ T cells - increased
C ⇒ T missense probably damaging 1.000
62 UTSW Dock2 0.000 11 34226815-34783892 bp (-) 34687538 Autosomal Recessive (14;153)
 Autosomal Semidominant (4;30)
excellent candidate 2019-05-21
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 - 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 - 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 naive CD4 T cells in CD4 T cells - decreased
 FACS naive CD8 T cells in CD8 T cells - decreased
 FACS NK cells - decreased
A ⇒ G missense probably damaging 1.000
63 UTSW Dock2 0.000 11 34226815-34783892 bp (-) 34689766 Autosomal Recessive (5;25) excellent candidate (Recruited) 2019-05-21
Diantha La Vine
 FACS B1b cells in B1 cells - increased
 FACS CD4:CD8 - decreased
 FACS CD4+ T cells in CD3+ T cells - decreased
 FACS CD44+ CD8 T cells - increased
 FACS CD8+ T cells in CD3+ T cells - increased
A ⇒ T missense probably damaging 1.000
64 UTSW Dock2 0.000 11 34226815-34783892 bp (-) 34714501 Autosomal Dominant (2;8) excellent candidate (Recruited) 2019-05-21
Diantha La Vine
 FACS CD4:CD8 - decreased
 FACS CD8+ T cells in CD3+ T cells - increased
T ⇒ C missense possibly damaging 0.827
65 UTSW
has video
Scn10a 0.379 9 119608456-119719322 bp (-) 119638705 Unknown no linkage results 2019-05-17
Anne Murray
 behavior/neurological
 nervous system
T ⇒ C missense probably damaging 0.995
66 UTSW Prkcb 0.000 7 122288751-122634402 bp (+) 122627693 Autosomal Dominant (1;4) potential candidate (Recruited) 2019-05-17
Anne Murray
 T-independent B cell response defect- decreased TNP-specific IgM to TNP-Ficoll immunization
C ⇒ T missense probably damaging 0.997
67 UTSW Prkcb 0.000 7 122288751-122634402 bp (+) 122289514 Autosomal Dominant (1;5)
 Autosomal Semidominant (4;39)
excellent candidate 2019-05-17
Anne Murray
 FACS B:T cells - decreased
 FACS B1 cells - decreased
 FACS CD8+ T cells - increased
 FACS central memory CD8 T cells in CD8 T cells - increased
 FACS T cells - increased
T ⇒ C missense probably damaging 0.997
68 UTSW Prkcb 0.000 7 122288751-122634402 bp (+) 122627663 Autosomal Semidominant (1;6) excellent candidate (Recruited) 2019-05-17
Anne Murray
 FACS B1 cells - decreased
G ⇒ A missense probably benign 0.070
69 UTSW Prkcb 0.000 7 122288751-122634402 bp (+) 122424977 Autosomal Recessive (2;9)
 Autosomal Semidominant (1;4)
excellent candidate 2019-05-17
Diantha La Vine
 FACS CD8+ T cells - increased
 FACS T cells - increased
 T-independent B cell response defect- decreased TNP-specific IgM to TNP-Ficoll immunization
A ⇒ T missense probably damaging 1.000
70 UTSW Prkcb 0.000 7 122288751-122634402 bp (+) 122582439 Unknown (1;0) no linkage results 2019-05-17
Diantha La Vine
 immune system
 T-independent B cell response defect- decreased TNP-specific IgM to TNP-Ficoll immunization
T ⇒ C missense possibly damaging 0.905
71 UTSW Prkcb 0.000 7 122288751-122634402 bp (+) 122582449 Autosomal Recessive (1;5)
 Autosomal Semidominant (4;31)
excellent candidate 2019-05-17
Diantha La Vine
 FACS B1 cells - decreased
 FACS IgM MFI - increased
 post-MCMV FACS B1a cells in B1 cells - decreased
 post-MCMV FACS B1b cells in B1 cells - increased
 T-independent B cell response defect- decreased TNP-specific IgM to TNP-Ficoll immunization
T ⇒ A missense probably damaging 1.000
72 APN Prkcb 0.000 7 122288751-122634402 bp (+) 122595005 Unknown no linkage results 2019-05-17
Diantha La Vine
 immune system
 T-independent B cell response defect- decreased TNP-specific IgM to TNP-Ficoll immunization
T ⇒ C missense probably damaging 0.997
73 UTSW Scyl1 0.882 19 5758427-5771401 bp (-) 5760826 Autosomal Recessive (12;75) excellent candidate 2019-05-16
Anne Murray
 behavior/neurological
 Body Weight (BP Female) - decreased
 Body Weight (BP Male) - decreased
 Body Weight (BP) - decreased
 Body Weight (DSS Female) - decreased
 Body Weight (DSS Male) - decreased
 Body Weight (DSS) - decreased
 FACS B1b cells - decreased
 Motor: Rotarod Weight - decreased
C ⇒ A missense probably damaging 0.999
74 UTSW
has video
Hcn2 0.000 10 79716634-79736108 bp (+) 79724786 Autosomal Recessive (7;38) excellent candidate 2019-05-16
Diantha La Vine
 behavior/neurological
 Body Weight - decreased
 Body Weight (Female) - decreased
 Body Weight (Male) - decreased
 FACS CD4:CD8 - increased
 FACS CD4+ T cells in CD3+ T cells - increased
 FACS CD8+ T cells in CD3+ T cells - decreased
T ⇒ A missense probably damaging 0.998
75 UTSW Hcn2 0.000 10 79716634-79736108 bp (+) 79724611 Autosomal Recessive (2;9) excellent candidate (Recruited) 2019-05-16
Diantha La Vine
 Body Weight - decreased
 Body Weight (Female) - decreased
T ⇒ C missense probably damaging 1.000
76 UTSW Lmbr1l 0.000 15 98903917-98918231 bp (-) 98904791 Autosomal Recessive (1;4) not good candidate (Recruited) 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 CD4+ T cells in CD3+ T cells - increased
 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 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 IgD+ B cell percentage - increased
 FACS IgM MFI - 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
 MCMV susceptibility
 NK cell response - decreased
 NK killing - 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
G ⇒ A missense probably damaging 1.000
77 UTSW Ikbkb 1.000 8 22659212-22706589 bp (-) 22675036 Autosomal Dominant (1;7) not good candidate 2019-05-14
Anne Murray
 FACS central memory CD4 T cells in CD4 T cells - decreased
 MCMV susceptibility
 post-MCMV FACS B1a cells in B1 cells - decreased
 post-MCMV FACS B1b cells in B1 cells - increased
 post-MCMV FACS CD44+ CD4 MFI - decreased
 post-MCMV FACS CD44+ CD8 MFI - decreased
 post-MCMV FACS CD44+ CD8 T cells - decreased
 post-MCMV FACS CD44+ T MFI - decreased
 post-MCMV FACS CD8a+ DCs (gated in CD11c+ cells) - increased
 post-MCMV FACS effector memory CD4 T cells in CD4 T cells - decreased
 post-MCMV FACS effector memory CD8 T cells in CD8 T cells - decreased
 TLR signaling defect: hyposensitivity to MALP2
T ⇒ G missense probably damaging 0.998
78 UTSW Xrcc5 1.000 1 72307421-72394952 bp (+) 72339029 Autosomal Recessive (15;101) excellent candidate 2019-05-13
Anne Murray
 FACS B1a cells - increased
 FACS B2 cells - decreased
 FACS B220 MFI - increased
 FACS CD11c+ DCs - increased
 FACS CD4:CD8 - increased
 FACS CD4+ T cells in CD3+ T cells - increased
 FACS CD44+ T MFI - increased
 FACS CD8+ T cells - decreased
 FACS CD8+ T cells in CD3+ T cells - decreased
 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 neutrophils - increased
 FACS T cells - decreased
T ⇒ C missense probably damaging 0.995
79 UTSW Lepr 0.000 4 101717404-101815352 bp (+) 101815201 Autosomal Recessive (12;82)
 Autosomal Semidominant (3;20)
excellent candidate 2019-05-13
Anne Murray
 Body Weight (BP Female) - increased
 Body Weight (BP Male) - increased
 Body Weight (BP) - increased
 Body Weight (DSS Female) - increased
 Body Weight (DSS Male) - increased
 Body Weight (DSS) - increased
 Motor: Rotarod Weight - increased
C ⇒ A missense probably damaging 1.000
80 UTSW
has video
Galc 0.000 12 98202294-98259459 bp (-) 98242714 Autosomal Recessive (1;4) failed initial filter 2019-05-08
Anne Murray
 behavior/neurological
T ⇒ C missense probably damaging 1.000
81 UTSW
has photo
Mbtps1 1.000 8 119508156-119558735 bp (-) 119538137 Autosomal Dominant (2;2)
 Autosomal Recessive (2;9)
failed initial filter 2019-05-07
Anne Murray
 pigmentation
 skin/coat/nails
G ⇒ A missense probably damaging 1.000
82 UTSW Dck 0.000 5 88764996-88783281 bp (+) 88772723 Autosomal Recessive (18;115) excellent candidate 2019-04-26
External Program
 Body Weight - decreased
 FACS B cells - decreased
 FACS B:T cells - decreased
 FACS B1a cells - increased
 FACS B1b cells - increased
 FACS B2 cells - decreased
 FACS B220 MFI - decreased
 FACS CD11c+ DCs - 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+ T cells - increased
 FACS CD44+ T MFI - increased
 FACS CD8+ T cells in CD3+ T cells - increased
 FACS CD8a+ DCs (gated in CD11c+ 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 IgD MFI - decreased
 FACS IgD+ B cell percentage - decreased
 FACS IgM+ B cells - 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
 OVA-specific IgE - increased
 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 - increased
T ⇒ C missense probably damaging 1.000
83 UTSW Stat1 0.000 1 52119440-52161865 bp (+) 52140588 Unknown (3;0) no linkage results 2019-04-24
Diantha La Vine
 immune system
 MCMV proliferation in macrophages - increased
 MCMV susceptibility
 NK cell response - decreased
 response to injected CpG DNA - decreased
 RVFV susceptibility
T ⇒ A missense probably damaging 1.000
84 UTSW Jak3 0.414 8 71676296-71690575 bp (+) 71683377 Autosomal Recessive (27;207)
 Autosomal Semidominant (3;15)
excellent candidate 2019-04-24
Diantha La Vine
 125-03 Response - decreased
 FACS B cells - 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 effector memory CD4 T cells in CD4 T cells - increased
 FACS effector memory CD8 T cells in CD8 T cells - increased
 FACS IgD+ B cell percentage - decreased
 FACS IgM+ B cells - decreased
 FACS macrophages - increased
 FACS naive CD8 T cells in CD8 T cells - decreased
 FACS neutrophils - increased
 FACS NK cells - decreased
 FACS T cells - decreased
 MCMV susceptibility
 OVA-specific IgE - increased
 post-MCMV FACS B cells - decreased
 post-MCMV FACS CD4:CD8 - increased
 post-MCMV FACS CD8+ T cells in CD3+ T cells - decreased
 post-MCMV FACS IgD+ B cell percentage - decreased
 post-MCMV FACS IgM+ B cells - decreased
 post-MCMV FACS naive CD4 T cells in CD4 T cells - decreased
 post-MCMV FACS naive CD8 T cells in CD8 T cells - decreased
 T-dependent humoral response defect- decreased antibody response to OVA+ alum immunization
 total IgE level - increased
A ⇒ G missense probably damaging 1.000
85 UTSW
has photo
Arcn1 0.000 9 44741564-44767845 bp (-) 44750394 Autosomal Recessive (1;5) failed initial filter 2019-04-23
Diantha La Vine
 pigmentation
 skin/coat/nails
A ⇒ G missense possibly damaging 0.917
86 UTSW
has photo
Tyrp1 0.195 4 80834123-80851719 bp (+) 80840778 Unknown (1;0) failed initial filter 2019-04-23
Diantha La Vine
 pigmentation
 skin/coat/nails
A ⇒ G missense probably damaging 1.000
87 UTSW Galc 0.000 12 98202294-98259459 bp (-) 98234266 Autosomal Semidominant (1;7) potential candidate 2019-04-23
Diantha La Vine
 Body Weight - decreased
T ⇒ C missense probably damaging 1.000
88 UTSW
has video
Galc 0.000 12 98202294-98259459 bp (-) 98259162 Autosomal Recessive (2;10)
 Autosomal Semidominant (1;8)
not good candidate 2019-04-23
Diantha La Vine
 behavior/neurological
 Blood Pressure: DBP Day 3 - increased
 Blood Pressure: MBP Day 1 - increased
 growth/size
A ⇒ T missense probably damaging 0.995
89 UTSW
has photo
Kdelr1 0.000 7 45872772-45883732 bp (+) 45881621 Unknown no linkage results 2019-04-19
Diantha La Vine
 FACS B cells - decreased
 FACS CD44+ CD4 T cells - increased
 FACS CD44+ CD8 MFI - increased
 FACS CD44+ CD8 T cells - increased
 FACS NK cells - increased
 FACS NK T cells - decreased
A ⇒ G missense probably damaging 1.000
90 UTSW Card11 0.000 5 140872990-141000582 bp (-) 140913309 Autosomal Dominant (1;25)
 Autosomal Semidominant (7;68)
excellent candidate (Recruited) 2019-04-19
Anne Murray
 FACS B cells - decreased
 FACS B:T cells - decreased
 FACS B1 cells - decreased
 FACS CD4+ T cells - increased
 FACS CD44+ T MFI - decreased
 FACS CD8+ T cells - increased
 FACS central memory CD4 T cells in CD4 T cells - decreased
 FACS effector memory CD8 T cells in CD8 T cells - decreased
 FACS T cells - increased
T ⇒ A missense probably damaging 1.000
91 UTSW Cd8b1 0.057 6 71322788-71337494 bp (+) 71326340 Autosomal Recessive (9;163)
 Autosomal Semidominant (2;17)
excellent candidate 2019-04-19
Anne Murray
 FACS B:T 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+ CD8 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 CD8 T cells in CD8 T cells - increased
 FACS naive CD8 T cells in CD8 T cells - decreased
T ⇒ A missense probably damaging 1.000
92 UTSW Cd8b1 0.057 6 71322788-71337494 bp (+) 71334101 Autosomal Recessive (1;4)
 Autosomal Semidominant (3;15)
excellent candidate 2019-04-18
Diantha La Vine
 FACS CD4:CD8 - increased
 FACS CD4+ T cells in CD3+ T cells - increased
 FACS CD8+ T cells in CD3+ T cells - decreased
 T-dependent humoral response defect- increased antibody response to rSFV
A ⇒ G missense probably damaging 0.996
93 UTSW Myo5a 0.877 9 75071015-75223688 bp (+) Unknown no linkage results 2019-04-18
Stephen Lyon
 pigmentation
 skin/coat/nails
missense
94 UTSW
has video
Cars2 0.937 8 11513977-11550783 bp (-) 11526034 Unknown no linkage results 2019-04-18
Bruce Beutler
 behavior/neurological
A ⇒ T missense probably damaging 1.000
95 UTSW Fasl 0.370 1 161780689-161788495 bp (-) 161788164 Autosomal Recessive (1;4) not good candidate 2019-04-17
Anne Murray
 T-dependent humoral response defect- decreased antibody response to rSFV
T ⇒ C missense probably benign 0.000
96 UTSW Card11 0.000 5 140872990-141000582 bp (-) 140876425 Autosomal Semidominant (3;14) excellent candidate (Recruited) 2019-04-16
Diantha La Vine
 FACS CD4+ T cells - increased
 FACS effector memory CD4 T cells in CD4 T cells - decreased
 FACS T cells - increased
G ⇒ A missense possibly damaging 0.934
97 UTSW Card11 0.000 5 140872990-141000582 bp (-) 140885877 Autosomal Semidominant (3;15) excellent candidate 2019-04-16
Diantha La Vine
 FACS B1a cells in B1 cells - decreased
 FACS B1b cells in B1 cells - increased
 T-independent B cell response defect- decreased TNP-specific IgM to TNP-Ficoll immunization
T ⇒ C missense probably damaging 1.000
98 UTSW Card11 0.000 5 140872990-141000582 bp (-) 140885945 Autosomal Semidominant (2;11) good candidate 2019-04-16
Diantha La Vine
 FACS B1 cells - increased
 T-independent B cell response defect- decreased TNP-specific IgM to TNP-Ficoll immunization
 T-independent B cell response defect- increased TNP-specific IgM to TNP-Ficoll immunization
T ⇒ C missense possibly damaging 0.755
99 UTSW Card11 0.000 5 140872990-141000582 bp (-) 140891080 Unknown (1;0) no linkage results 2019-04-16
Diantha La Vine
 CTL killing - decreased
 FACS NK cells - decreased
 FACS NK T cells - decreased
 hematopoietic system
 immune system
 NK cell response - decreased
 skin/coat/nails
A ⇒ T splice site probably benign
100 APN Card11 0.000 5 140872990-141000582 bp (-) 140897997 Unknown no linkage results 2019-04-16
Diantha La Vine
 CD8 response - decreased
 FACS NK cells - decreased
 FACS NK T cells - decreased
 hematopoietic system
 immune system
 NK cell response - decreased
 skin/coat/nails
A ⇒ T intron probably benign
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