Phenotypic Mutations

70 mutations affecting 64 genes are currently displayed.

Mutations Mapped and Identified Based on Phenotype
[records 1 to 70 of 70] per page Full List
 




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Verification Probability

Phenotypic Category

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1 UTSW
has photo
Mbtps1 1.000 Muskrat 8 119508156-119558735 bp (-) 119538137 Autosomal Dominant (2;2)
Autosomal Recessive (2;9)
failed initial filter 2020-07-29
External Program
pigmentation
skin/coat/nails
G ⇒ A missense probably damaging 1.000
2 UTSW Inpp5d 0.887 Orange 1 87620312-87720507 bp (+) 87697546 Autosomal Dominant (3;10)
Autosomal Semidominant (2;11)
0.902 2020-06-05
Thomas Gallagher
FACS B cells - decreased
FACS B:T cells - decreased
FACS B1a cells - increased
FACS B2 cells - decreased
FACS CD11c+ DCs - increased
G ⇒ A critical splice donor site 1 bp probably null
3 UTSW Cd4 0.000 craw 6 124864692-124888221 bp (-) 124867746 Unknown (7;0) no linkage results 2019-11-12
Bruce Beutler
FACS CD4+ 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 ⇒ A nonsense probably null
4 UTSW Klhl6 0.094 cerulean 16 19946496-19983037 bp (-) 19957218 Autosomal Recessive (8;130)
Autosomal Semidominant (6;41)
0.902 2019-10-25
Bruce Beutler
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
total IgE level - increased
G ⇒ A nonsense probably null
5 UTSW
has video
Myo15 0.000 Typhoon 11 60469339-60528369 bp (+) 60487425 Autosomal Dominant (1;7)
Autosomal Recessive (1;5)
0.132 2019-10-23
Anne Murray
behavior/neurological
NALP3 inflammasome signaling defect
NLRP3 inflammasome: low response
G ⇒ A critical splice donor site probably null
6 UTSW
has photo
Kitl 0.362 Gregory 10 100015630-100100416 bp (+) 100076906 Unknown (2;0)
Autosomal Dominant (3;8)
failed initial filter 2019-10-23
Anne Murray
pigmentation
skin/coat/nails
G ⇒ A critical splice donor site probably null
7 UTSW Tnfsf13b 0.096 Frozen 8 10006467-10039072 bp (+) 10031661 Autosomal Recessive (6;46)
Autosomal Semidominant (8;93)
0.837 2019-09-04
Diantha La Vine
FACS B cells - decreased
FACS B:T cells - decreased
FACS B1a cells - increased
FACS CD11c+ DCs - increased
FACS CD8+ T cells - increased
FACS IgD MFI - decreased
FACS IgD+ B cell percentage - decreased
FACS IgM MFI - increased
FACS IgM+ B cells - decreased
FACS macrophages - increased
FACS neutrophils - increased
FACS T cells - 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
G ⇒ A splice site 5 bp probably null
8 UTSW Arnt2 1.000 Arnold2 7 84246278-84410176 bp (-) 84347530 Autosomal Dominant (3;4)
Autosomal Semidominant (3;17)
0.985 2019-09-04
External Program
Body Weight - increased
Body Weight (Female) - increased
Body Weight (Male) - increased
Body Weight (Z-score) - increased
DSS: sensitive day 10
growth/size
NALP3 inflammasome signaling defect
NK cell response - decreased
NK killing - decreased
NLRP3 inflammasome: high response
G ⇒ A missense probably damaging 1.000
9 UTSW Entpd5 0.000 eatsy 12 84373857-84409029 bp (-) 84382295 Autosomal Recessive (10;46)
Autosomal Semidominant (2;9)
0.918 2019-09-04
External Program
125-03 Response - increased
Body Weight - decreased
Body Weight (DSS) - decreased
Body Weight (DSS, z-score) - decreased
Body Weight (Female) - decreased
Body Weight (Z-score) - decreased
DSS: sensitive day 10
DSS: sensitive day 7
FACS B1 cells - increased
FACS CD44+ CD8 MFI - increased
FACS central memory CD4 T cells in CD4 T 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
10 UTSW Ciita 0.126 sisal 16 10480059-10528418 bp (+) 10513288 Autosomal Recessive (9;49)
Autosomal Semidominant (1;4)
0.880 2019-09-04
Anne Murray
FACS CD4+ T cells - decreased
FACS CD4+ T cells in CD3+ T cells - decreased
FACS CD44+ CD4 MFI - increased
FACS CD8+ T cells in CD3+ T cells - increased
FACS naive CD4 T cells in CD4 T cells - decreased
post-MCMV FACS CD4:CD8 - decreased
post-MCMV FACS CD8+ T cells in CD3+ 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
TLR signaling defect: hypersensitivity to R848
TLR signaling defect: TNF production by macrophages
G ⇒ A critical splice donor site 1 bp probably null
11 UTSW
has video
Myo6 0.000 torticollis 9 80165031-80311729 bp (+) 80288217 Autosomal Recessive (4;15) 0.174 2019-09-04
Anne Murray
behavior/neurological
dsDNA induced type I IFN production - increased
hearing/vestibular/ear
impaired response to dsDNA- type I IFN production by macrophages
G ⇒ A critical splice donor site 1 bp probably null
12 UTSW Hr 0.000 yuanxiao 14 70552212-70573548 bp (+) 70571448 Autosomal Recessive (1;4) 0.383 2019-09-04
Diantha La Vine
Body Weight (DSS Male) - decreased
DSS: sensitive day 10
DSS: sensitive day 7
FACS B cells - decreased
FACS B:T cells - decreased
FACS B1a cells - increased
FACS B1a cells in B1 cells - decreased
FACS B1b cells - increased
FACS B1b cells in B1 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 CD44+ CD8 T cells - decreased
FACS CD44+ T cells - decreased
FACS CD8+ T cells in CD3+ T cells - increased
FACS central memory CD8 T cells in CD8 T cells - increased
FACS IgD+ B cell percentage - decreased
FACS IgM MFI - increased
FACS IgM+ B cells - decreased
FACS macrophages - increased
FACS naive CD8 T cells in CD8 T cells - decreased
FACS neutrophils - increased
FACS T cells - decreased
skin/coat/nails
G ⇒ A missense probably damaging 1.000
13 UTSW Gk5 0.000 tangyuan 9 96119362-96184608 bp (+) 96150797 Autosomal Recessive (6;25) 0.981 2019-09-04
Anne Murray
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
G ⇒ A critical splice donor site 1 bp probably null
14 UTSW Itgb2 0.330 newhome 10 77530252-77565708 bp (+) 77559681 Autosomal Recessive (2;21) 0.544 2019-09-04
Diantha La Vine
dsDNA induced type I IFN production - increased
impaired response to dsDNA- type I IFN production by macrophages
G ⇒ A missense probably benign 0.001
15 UTSW Slx4 1.000 slim 16 3979105-4003770 bp (-) 3990910 Autosomal Recessive (4;22) 0.495 2019-09-04
Anne Murray
Body Weight - decreased
Body Weight (DSS Female) - decreased
Body Weight (DSS) - decreased
growth/size
G ⇒ A nonsense probably null
16 UTSW Ighe 0.049 Allegra 12 113271174-113273248 bp (-) 113271374 Autosomal Semidominant (2;9) 0.119 2019-09-04
Anne Murray
ratio of OVA-specific IgE over the total IgE - increased
total IgE level - decreased
G ⇒ A nonsense probably null
17 UTSW Naip5 0.068 inwood3 13 100211739-100246323 bp (-) 100221903 Autosomal Recessive (2;9) 0.827 2019-09-04
Anne Murray
Nlrc4 inflammasome: low response
G ⇒ A nonsense probably null
18 UTSW Dock8 0.083 snowdrop 19 24999529-25202432 bp (+) 25184941 Autosomal Recessive (9;38)
Autosomal Semidominant (1;4)
0.933 2019-09-04
Anne Murray
FACS B:T cells - increased
FACS CD4+ T cells - decreased
FACS CD44+ CD8 MFI - increased
FACS CD8+ T cells - decreased
FACS macrophages - increased
FACS naive CD8 T cells in CD8 T cells - decreased
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
G ⇒ A critical splice donor site probably null
19 UTSW Clock 0.730 uhr 5 76209868-76304792 bp (-) 76229554 Autosomal Recessive (1;2) failed initial filter 2019-09-04
Katherine Timer
Body Weight - increased
G ⇒ A nonsense probably null
20 UTSW Rorc 0.814 macadamias2 3 94372794-94398276 bp (+) 94387193 Autosomal Recessive (18;118) 0.977 2019-09-04
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+ CD4 MFI - increased
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 IgD MFI - increased
FACS macrophages - increased
FACS naive CD8 T cells in CD8 T cells - decreased
NALP3 inflammasome signaling defect
NLRP3 inflammasome: high response
T-dependent humoral response defect- decreased antibody response to OVA+ alum immunization
T-dependent humoral response defect- decreased antibody response to rSFV
G ⇒ A missense probably damaging 1.000
21 UTSW Tg 0.131 ito2 15 66670753-66850721 bp (+) 66671396 Unknown (1;0)
Autosomal Recessive (17;94), Autosomal Semidominant (1;5)
0.883 2019-09-04
Diantha La Vine
Body Weight - decreased
Body Weight (Female) - decreased
Body Weight (Z-score) - decreased
DSS: sensitive day 10
FACS B cells - decreased
FACS B1a cells - increased
FACS CD4:CD8 - increased
FACS CD4+ T cells - increased
FACS CD4+ T cells in CD3+ T cells - increased
FACS CD44+ CD4 T cells - increased
FACS CD8+ T cells in CD3+ T cells - decreased
FACS IgD+ B cell percentage - decreased
FACS IgM+ B cells - decreased
FACS macrophages - increased
G ⇒ A missense probably damaging 0.999
22 UTSW Fgfr4 0.000 Modest 13 55152640-55168759 bp (+) 55166251 Autosomal Semidominant (5;27) 0.425 2019-09-04
Diantha La Vine
Body Weight - decreased
Body Weight (DSS) - decreased
Body Weight (DSS, z-score) - decreased
Body Weight (Z-score) - decreased
FACS B1a cells in B1 cells - decreased
G ⇒ A missense probably damaging 1.000
23 UTSW Lepr 0.000 giant 4 101717404-101815352 bp (+) 101765152 Autosomal Recessive (13;96)
Autosomal Semidominant (1;3)
0.917 2019-09-04
Diantha La Vine
30 min GTT hyperglycemic
Body Weight - increased
Body Weight (Female) - increased
Body Weight (Male) - increased
Body Weight (Z-score) - increased
FACS macrophages - increased
growth/size
NK cell response - decreased
NK killing - decreased
OVA-specific IgE - increased
TLR signaling defect: hyposensitivity to CpG + IFNg
total IgE level - increased
G ⇒ A critical splice donor site probably null
24 UTSW Impdh1 0.241 steve 6 29200434-29216364 bp (-) 29204632 Autosomal Recessive (3;25)
Autosomal Semidominant (1;4)
0.425 2019-09-04
Anne Murray
TLR signaling defect: hyposensitivity to CpG + IFNg
vision/eye
G ⇒ A nonsense probably null
25 UTSW Fbxl3 0.230 delargo 14 103080239-103099566 bp (-) 103089418 Autosomal Recessive (4;46)
Autosomal Semidominant (1;14)
no linkage result 2019-09-04
Anne Murray
G ⇒ A missense probably damaging 1.000
26 UTSW Itgb2 0.330 nibbler 10 77530252-77565708 bp (+) 77561216 Autosomal Recessive (25;179) 0.957 2019-09-04
Diantha La Vine
CD8 response - decreased
CTL killing - decreased
CTL killing dominant epitope - decreased
FACS B cells - decreased
FACS B:T cells - decreased
FACS B1b cells - increased
FACS CD11b+ DCs (gated in CD11c+ cells) - decreased
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+ T MFI - increased
FACS CD8+ T cells - decreased
FACS CD8+ T cells in CD3+ T cells - decreased
FACS CD8a+ DCs (gated in CD11c+ 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+ B cell percentage - decreased
FACS IgM+ B cells - decreased
FACS macrophages - decreased
FACS naive CD4 T cells in CD4 T cells - decreased
FACS naive CD8 T cells in CD8 T cells - decreased
FACS neutrophils - decreased
FACS NK1.1+ T cells - increased
NK cell response - decreased
NK killing - decreased
T-dependent humoral response defect- decreased antibody response to rSFV
total IgE level - increased
G ⇒ A critical splice donor site probably null
27 UTSW
has photo
Hps5 0.116 smoky 7 46760466-46796064 bp (-) 46769351 Autosomal Recessive (1;2) failed initial filter 2019-09-04
Diantha La Vine
pigmentation
skin/coat/nails
G ⇒ A nonsense probably null
28 UTSW Prkcq 0.000 celina2 2 11172108-11301222 bp (+) 11226986 Autosomal Recessive (1;4) 0.526 2019-09-04
Anne Murray
T-dependent humoral response defect- decreased antibody response to OVA+ alum immunization
G ⇒ A critical splice donor site probably null
29 UTSW Slc6a6 0.000 durango 6 91684053-91759066 bp (+) 91723471 Autosomal Recessive (5;53)
Autosomal Semidominant (2;8)
0.974 2019-09-04
Anne Murray
FACS effector memory CD4 T cells in CD4 T cells - increased
FACS naive CD4 T cells in CD4 T cells - decreased
vision/eye
G ⇒ A missense probably damaging 1.000
30 UTSW Prkdc 0.947 screamer6 16 15637866-15842235 bp (+) 15759605 Autosomal Recessive (2;11) 0.873 2019-09-04
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
31 UTSW Aicda 0.000 creeper 6 122553801-122564180 bp (+) 122561867 Autosomal Dominant (1;4)
Autosomal Recessive (3;21), Autosomal Semidominant (2;16)
0.951 2019-09-04
Anne Murray
OVA-specific IgE - decreased
ratio of OVA-specific IgE over the total 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 After 2nd OVA/Alum Challenge (day 7) - decreased
total IgE level - decreased
G ⇒ A missense probably damaging 0.999
32 UTSW Vav1 0.270 Plain_sight 17 57279100-57328031 bp (+) 57297122 Autosomal Semidominant (1;5) 0.810 2019-09-04
Diantha La Vine
FACS B1 cells - decreased
G ⇒ A missense probably damaging 1.000
33 UTSW Ltbr 0.174 armitage 6 125306571-125313885 bp (-) 125312794 Autosomal Recessive (1;5)
Autosomal Semidominant (1;2)
0.816 2019-09-04
Diantha La Vine
T-independent B cell response defect- decreased TNP-specific IgM to TNP-Ficoll immunization
G ⇒ A missense probably damaging 0.973
34 UTSW Slc13a5 0.000 punk2 11 72241989-72267222 bp (-) 72253391 Autosomal Recessive (11;62) 0.337 2019-09-04
Anne Murray
Body Weight - decreased
Body Weight (Female) - decreased
Body Weight (Z-score) - decreased
G ⇒ A missense possibly damaging 0.655
35 UTSW
has photo
Eml1 0.272 bubble 12 108370957-108539617 bp (+) 108513071 Autosomal Recessive (1;8) failed initial filter 2019-09-04
Anne Murray
craniofacial
nervous system
G ⇒ A critical splice donor site probably null
36 UTSW Card11 0.000 Sharp 5 140872990-141000582 bp (-) 140876425 Autosomal Semidominant (2;10) 0.709 2019-09-04
Diantha La Vine
FACS CD4+ T cells - increased
FACS T cells - increased
G ⇒ A missense possibly damaging 0.934
37 UTSW Il4ra 0.082 Haile 7 125552120-125579474 bp (+) 125574717 Autosomal Dominant (1;4) 0.088 2019-09-04
Anne Murray
total IgE level - decreased
G ⇒ A critical splice donor site 1 bp probably null
38 UTSW Jak3 0.721 potentes 8 71676296-71690575 bp (+) 71686058 Autosomal Recessive (2;8) 0.827 2019-09-04
Anne Murray
FACS CD4:CD8 - increased
FACS CD4+ T cells in CD3+ T cells - increased
G ⇒ A missense probably damaging 0.985
39 UTSW Nfkb1 0.000 Wheelo 3 135584655-135691547 bp (-) 135615349 Autosomal Semidominant (1;4) 0.577 2019-09-04
Anne Murray
total IgE level - decreased
G ⇒ A missense possibly damaging 0.806
40 UTSW Nos3 0.000 Peter 5 24364810-24384474 bp (+) 24377855 Autosomal Semidominant (1;5) 0.391 2019-09-04
Anne Murray
DSS: sensitive day 7
G ⇒ A missense probably damaging 0.994
41 UTSW Pappa 0.728 maennelein 4 65124174-65357509 bp (+) 65314796 Unknown (2;0)
Autosomal Dominant (1;1), Autosomal Recessive (6;40)
0.886 2019-09-04
Diantha La Vine
Body Weight - decreased
Body Weight (Female) - decreased
Body Weight (Z-score) - decreased
T-independent B cell response defect- decreased TNP-specific IgM to TNP-Ficoll immunization
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
42 UTSW Pappa2 0.000 Gulliver 1 158711727-158980490 bp (-) 158857136 Autosomal Dominant (1;4) 0.908 2019-09-04
Anne Murray
Body Weight - decreased
G ⇒ A missense probably null 1.000
43 UTSW Tg 0.131 samarai 15 66670753-66850721 bp (+) 66758006 Autosomal Recessive (15;67) 0.893 2019-09-04
Anne Murray
Body Weight - decreased
Body Weight (Z-score) - decreased
FACS B1a cells - increased
FACS B2 cells - decreased
FACS CD44+ CD4 T cells - increased
FACS CD44+ CD8 T cells - increased
FACS CD44+ T cells - increased
FACS central memory CD4 T cells in CD4 T cells - increased
FACS IgM+ B cells - decreased
FACS macrophages - increased
total IgE level - increased
G ⇒ A critical splice donor site 1 bp probably null
44 UTSW Vav1 0.270 Delayed 17 57279100-57328031 bp (+) 57296552 Autosomal Dominant (11;76)
Autosomal Semidominant (3;13)
0.954 2019-09-04
Anne Murray
FACS B1 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 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
G ⇒ A missense probably damaging 0.998
45 UTSW Lmbr1l 0.000 morula 15 98903917-98918231 bp (-) 98904791 Autosomal Recessive (1;4) 0.920 2019-09-04
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 NK1.1+ 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
46 UTSW Rel 0.000 giza 11 23736847-23770970 bp (-) 23757010 Autosomal Recessive (1;4) 0.855 2019-09-04
Anne Murray
T-independent B cell response defect- decreased TNP-specific IgM to TNP-Ficoll immunization
G ⇒ A missense probably damaging 0.995
47 UTSW Rag1 0.521 dysfunctional 2 101638282-101649501 bp (-) 101644284 Autosomal Recessive (3;14)
Autosomal Semidominant (1;5)
0.862 2019-09-04
Diantha La Vine
FACS B cells - decreased
FACS B:T cells - decreased
FACS CD44+ CD8 MFI - increased
FACS central memory CD8 T cells in CD8 T cells - increased
G ⇒ A missense probably damaging 1.000
48 UTSW Prkcb 0.000 Baghdad 7 122288751-122634402 bp (+) 122627663 Autosomal Semidominant (1;6) 0.531 2019-09-04
Anne Murray
FACS B1 cells - decreased
G ⇒ A missense probably benign 0.070
49 UTSW
has photo
Kbtbd2 0.000 teeny 6 56777524-56797813 bp (-) 56780389 Unknown (1;0)
Autosomal Recessive (6;45), Autosomal Semidominant (1;7)
0.979 2019-08-15
External Program
30 min GTT hyperglycemic
Body Weight - decreased
Body Weight (Female) - decreased
Body Weight (Male) - decreased
Body Weight (Z-score) - decreased
FACS B1a cells - decreased
FACS CD44+ CD8 T cells - increased
growth/size
liver/biliary system
G ⇒ A nonsense probably null
50 UTSW Cd22 0.000 well 7 30865402-30880342 bp (-) 30877787 Unknown no linkage results 2019-07-29
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
51 UTSW Ptprc 0.000 guotie 1 138062861-138175708 bp (-) 138068401 Unknown (1;0)
Autosomal Recessive (53;509), Autosomal Semidominant (9;57)
0.970 2019-06-06
Diantha La Vine
30 min GTT hypoglycemic
30 min GTT hypoglycemic (male)
Body Weight - decreased
Body Weight (Female) - decreased
Body Weight (Male) - decreased
Body Weight (Z-score) - 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 NK1.1+ 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 CD8a+ DCs (gated in CD11c+ 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
52 UTSW Msh6 1.000 medea 17 87975050-87990883 bp (+) 87980223 Autosomal Recessive (1;20) 0.629 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
53 UTSW Dock2 0.000 dew 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
54 UTSW Card11 0.000 may 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
55 UTSW Lepr 0.000 well-upholstered 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
56 UTSW Fnip1 0.688 hamel 11 54438199-54518235 bp (+) 54480685 Unknown no linkage results 2019-02-07
Diantha La Vine
hematopoietic competition - disadvantage
hematopoietic system
homeostasis/metabolism
muscle
G ⇒ A critical splice donor site 1 bp probably benign
57 UTSW Tlr7 0.168 rsq1 X 167304929-167330558 bp (-) 167308286 Unknown (1;0) no linkage results 2018-12-14
Diantha La Vine
immune system
TLR signaling defect: TNF production by macrophages
G ⇒ A missense probably damaging 1.000
58 UTSW Atp11c 0.407 emptyhive 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
59 UTSW
has photo
Hr 0.000 mister_clean 14 70552212-70573548 bp (+) 70560065 Unknown no linkage results 2018-03-02
Diantha La Vine
Body Weight (DSS Male) - decreased
DSS: sensitive day 10
DSS: sensitive day 7
FACS B cells - decreased
FACS B:T cells - decreased
FACS B1a cells - increased
FACS B1a cells in B1 cells - decreased
FACS B1b cells - increased
FACS B1b cells in B1 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 CD44+ CD8 T cells - decreased
FACS CD44+ T cells - decreased
FACS CD8+ T cells in CD3+ T cells - increased
FACS central memory CD8 T cells in CD8 T cells - increased
FACS IgD+ B cell percentage - decreased
FACS IgM MFI - increased
FACS IgM+ B cells - decreased
FACS macrophages - increased
FACS naive CD8 T cells in CD8 T cells - decreased
FACS neutrophils - increased
FACS T cells - decreased
skin/coat/nails
G ⇒ A critical splice donor site 1 bp probably benign
60 UTSW Oca2 0.223 quicksilver 7 56239760-56536518 bp (+) 56324661 Unknown no linkage results 2018-01-12
Diantha La Vine
pigmentation
skin/coat/nails
G ⇒ A missense probably benign 0.190
61 APN Muc2 0.083 Winnie 7 141690340-141754693 bp (+) 141699460 Unknown no linkage results 2017-09-13
Diantha La Vine
DSS: sensitive day 7
immune system
G ⇒ A missense probably damaging 1.000
62 UTSW Map3k8 0.000 gnostic_gospel 18 4331327-4353015 bp (-) 4333965 Unknown (1;0)
Autosomal Dominant (1;3), Autosomal Recessive (4;20), Autosomal Semidominant (1;3)
0.796 2017-09-11
Diantha La Vine
FACS B1 cells - increased
NALP3 inflammasome signaling defect
NLRP3 inflammasome: low response
TLR signaling defect: hyposensitivity to LPS
TLR signaling defect: hyposensitivity to PAM3CSK4
TLR signaling defect: hyposensitivity to poly I:C
TLR signaling defect: TNF production by macrophages
G ⇒ A missense probably damaging 1.000
63 UTSW Map3k14 0.665 lucky 11 103219762-103267472 bp (-) 103249558 Unknown (1;0) no linkage results 2017-04-06
Katherine Timer
FACS B cells - decreased
hematopoietic system
immune system
T-dependent humoral response defect- decreased antibody response to rSFV
G ⇒ A intron probably benign
64 UTSW Cd14 0.116 heedless 18 36725074-36726736 bp (-) 36726171 Unknown (1;0) no linkage results 2017-03-27
Katherine Timer
immune system
TLR signaling defect: TNF production by macrophages
G ⇒ A missense probably benign 0.007
65 UTSW Tlr4 0.000 Lps4 4 66827584-66930284 bp (+) 66841142 Unknown (1;0) no linkage results 2016-12-09
Katherine Timer
immune system
TLR signaling defect: TNF production by macrophages
G ⇒ A missense probably damaging 1.000
66 UTSW Ticam1 0.000 Pangu 17 56269319-56276786 bp (-) 56276693 Unknown (2;0) no linkage results 2016-10-13
Anne Murray
TLR signaling defect: hyposensitivity to LPS
TLR signaling defect: TNF production by macrophages
G ⇒ A critical splice donor site probably benign
67 UTSW
has photo
Tmprss6 0.070 zorro 15 78439667-78468634 bp (-) 78464552 Unknown no linkage results 2016-05-13
Peter Jurek
embryogenesis
growth/size
hematopoietic system
homeostasis/metabolism
iron deficiency
reproductive system
skin/coat/nails
G ⇒ A intron probably benign
68 UTSW
has photo
Tgm3 0.000 tortellini 2 130012349-130050399 bp (+) 130024585 Unknown (1;0) no linkage results 2016-05-13
Stephen Lyon
immune system
RVFV susceptibility
skin/coat/nails
G ⇒ A critical splice donor site 1 bp probably benign
69 UTSW Tlr9 0.089 Cpg6 9 106222598-106226883 bp (+) 106226593 Unknown (2;0) no linkage results 2016-05-13
Peter Jurek
immune system
response to injected CpG DNA - decreased
TLR signaling defect: TNF production by macrophages
G ⇒ A missense probably damaging 1.000
70 UTSW
has photo
Bicc1 1.000 artemis 10 70922832-71159700 bp (-) 71027954 Unknown no linkage results 2016-05-13
Stephen Lyon
homeostasis/metabolism
life span-post-weaning/aging
renal/urinary system
G ⇒ A missense probably damaging 0.994
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