Phenotypic Mutations

40 mutations affecting 37 genes are currently displayed.

Mutations Mapped and Identified Based on Phenotype
[records 1 to 40 of 40] per page Full List
 



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Verification Probability

Phenotypic Category

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1 UTSW Lrp5 0.897 Spicule 19 3584828-3686564 bp (-) 3612197 Autosomal Dominant (1;4) no linkage result 2022-04-02
Stephen Lyon
C ⇒ A critical splice donor site 1 bp probably null
2 UTSW Adamts20 0.144 whopper 15 94270163-94465418 bp (-) 94347810 Autosomal Recessive (1;6) 0.512 2021-10-21
Diantha La Vine
pigmentation
skin/coat/nails
C ⇒ A missense probably damaging 1.000
3 UTSW Adamts20 0.144 wash 15 94270163-94465418 bp (-) 94347670 Autosomal Recessive (1;7) 0.629 2021-10-21
Diantha La Vine
pigmentation
skin/coat/nails
C ⇒ A nonsense probably null
4 UTSW Tap2 0.150 Palm 17 34203527-34216321 bp (+) 34215940 Autosomal Recessive (1;7)
Autosomal Semidominant (1;5)
0.400 2020-07-29
External Program
FACS CD4+ T cells - increased
NALP3 inflammasome signaling defect
NLRP3 inflammasome: low response
C ⇒ A missense possibly damaging 0.638
5 UTSW Inpp5d 0.875 americas 1 87620312-87720507 bp (+) 87715142 Autosomal Recessive (4;49) 0.541 2020-05-29
Thomas Gallagher
dsDNA induced type I IFN production - increased
impaired response to dsDNA- type I IFN production by macrophages
TLR signaling defect: hypersensitivity to PAM3CSK4
TLR signaling defect: hypersensitivity to R848
TLR signaling defect: TNF production by macrophages
C ⇒ A missense probably damaging 0.998
6 UTSW Tshr 0.311 freckle 12 91384563-91549808 bp (+) 91538226 Unknown (1;0)
Autosomal Recessive (1;5)
0.460 2019-09-04
Bruce Beutler
125-03 Response - increased
endocrine/exocrine gland
growth/size
C ⇒ A nonsense probably null
7 UTSW Tyr 0.213 rufus 7 87424771-87493512 bp (-) 87492706 Autosomal Recessive (1;3) failed initial filter 2019-09-04
Anne Murray
pigmentation
skin/coat/nails
C ⇒ A missense probably damaging 1.000
8 UTSW Syt2 0.101 kringle 1 134646677-134762593 bp (+) 134747620 Autosomal Recessive (1;3)
Autosomal Semidominant (1;1)
failed initial filter 2019-09-04
Anne Murray
behavior/neurological
Body Weight - decreased
growth/size
lethality-postnatal
nervous system
C ⇒ A missense probably damaging 0.998
9 UTSW Socs2 0.149 samson 10 95385362-95417180 bp (-) 95413081 Autosomal Recessive (6;30)
Autosomal Semidominant (2;10)
0.549 2019-09-04
Bruce Beutler
Body Weight - increased
Body Weight (DSS Male) - increased
Body Weight (DSS) - increased
Body Weight (DSS, z-score) - increased
Body Weight (DSS, z-score, male) - increased
Body Weight (Male) - increased
Body Weight (Z-score) - increased
Body Weight (Z-score, male) - increased
growth/size
C ⇒ A nonsense probably null
10 UTSW Cd22 0.000 Yosemite 7 30865402-30880342 bp (-) 30869509 Unknown (1;0)
Autosomal Dominant (4;7), Autosomal Recessive (4;14), Autosomal Semidominant (6;17)
0.958 2019-09-04
Diantha La Vine
FACS B cells - decreased
FACS B1a cells - increased
FACS B1a cells in B1 cells - increased
FACS B1b cells in B1 cells - decreased
FACS B2 cells - decreased
FACS central memory CD4 T cells in CD4 T cells - increased
FACS IgD+ B cell percentage - decreased
FACS IgM+ B cells - decreased
post-MCMV FACS B cells - decreased
post-MCMV FACS B:T cells - decreased
post-MCMV FACS B1a cells - increased
post-MCMV FACS B1a cells in B1 cells - decreased
post-MCMV FACS B2 cells - decreased
post-MCMV FACS IgD+ B cell percentage - decreased
post-MCMV FACS IgM+ B cells - decreased
C ⇒ A critical splice donor site 1 bp probably null
11 UTSW Pappa2 0.000 Lilliputian 1 158711727-158980490 bp (-) 158716990 Autosomal Semidominant (4;22) 0.833 2019-09-04
Diantha La Vine
Body Weight - decreased
Body Weight (Male) - decreased
Body Weight (Z-score) - decreased
Body Weight (Z-score, male) - decreased
growth/size
C ⇒ A missense probably damaging 1.000
12 UTSW Itgax 0.101 Adendritic 7 128129547-128150657 bp (+) 128148572 Autosomal Recessive (1;7)
Autosomal Semidominant (2;20)
0.533 2019-09-04
Katherine Timer
FACS CD11b+ DCs (gated in CD11c+ cells) - decreased
FACS CD11c+ DCs - decreased
FACS pDCs - increased
C ⇒ A nonsense probably null
13 UTSW Lep 0.000 potbelly2 6 29060220-29073877 bp (+) 29069090 Autosomal Recessive (1;4) 0.767 2019-09-04
Anne Murray
Body Weight - increased
Body Weight (DSS) - increased
growth/size
C ⇒ A missense possibly damaging 0.952
14 UTSW Ern2 0.090 ernie3 7 122169893-122186207 bp (-) 122173819 Autosomal Recessive (2;6) failed initial filter 2019-09-04
Anne Murray
DSS: sensitive day 10
DSS: sensitive day 7
C ⇒ A critical splice acceptor site 1 bp probably null
15 UTSW Sema4c 1.000 swirl 1 36548639-36558349 bp (-) 36550311 Autosomal Recessive (1;3) failed initial filter 2019-09-04
Anne Murray
pigmentation
skin/coat/nails
C ⇒ A missense probably damaging 1.000
16 UTSW Tap2 0.150 date2 17 34203527-34216321 bp (+) 34214032 Autosomal Recessive (13;231) 0.909 2019-09-04
Diantha La Vine
CD8 response - decreased
CTL killing - decreased
CTL killing dominant epitope - decreased
FACS B1a cells in B1 cells - decreased
FACS CD4:CD8 - increased
FACS CD4+ T cells - increased
FACS CD4+ T cells in CD3+ T cells - increased
FACS CD44+ CD8 MFI - increased
FACS CD44+ CD8 T cells - decreased
FACS CD8+ T cells - decreased
FACS CD8+ T cells in CD3+ T cells - decreased
FACS central memory CD8 T cells in CD8 T cells - increased
FACS naive CD8 T cells in CD8 T cells - decreased
FACS NK cells - increased
NK cell response - decreased
NK killing - decreased
C ⇒ A nonsense probably null
17 UTSW Stat1 0.000 rollo 1 52119440-52161865 bp (+) 52153923 Autosomal Recessive (4;26) 0.847 2019-09-04
Diantha La Vine
NK cell response - decreased
NK killing - decreased
C ⇒ A nonsense probably null
18 UTSW Myd88 0.000 Dani_alves 9 119335934-119341411 bp (-) 119337823 Autosomal Semidominant (4;17) 0.428 2019-09-04
Katherine Timer
TLR signaling defect: hyposensitivity to CpG + IFNg
TLR signaling defect: hyposensitivity to R848
TLR signaling defect: TNF production by macrophages
C ⇒ A missense possibly damaging 0.693
19 UTSW Cd44 0.279 Jialin 2 102811141-102901665 bp (-) 102865370 Autosomal Dominant (2;30)
Autosomal Semidominant (7;62)
0.557 2019-09-04
Anne Murray
FACS CD44+ CD4 MFI - decreased
FACS CD44+ CD4 T cells - decreased
FACS CD44+ CD8 MFI - decreased
FACS CD44+ CD8 T cells - decreased
FACS CD44+ T cells - decreased
FACS CD44+ T MFI - decreased
FACS central memory CD4 T cells in CD4 T cells - decreased
FACS central memory CD8 T cells in CD8 T cells - decreased
FACS effector memory CD4 T cells in CD4 T cells - decreased
C ⇒ A missense probably damaging 0.988
20 UTSW Diaph1 0.000 damselfly 18 37843601-37935476 bp (-) 37897550 Autosomal Recessive (15;167) 0.978 2019-09-04
Anne Murray
FACS B:T cells - increased
FACS B1a cells in B1 cells - decreased
FACS CD4+ T cells - decreased
FACS CD44+ CD4 MFI - increased
FACS CD44+ CD4 T cells - increased
FACS CD44+ CD8 MFI - increased
FACS CD44+ CD8 T cells - increased
FACS CD44+ T cells - increased
FACS CD44+ T MFI - increased
FACS CD8+ T cells - decreased
FACS central memory CD4 T cells in CD4 T cells - increased
FACS central memory CD8 T cells in CD8 T cells - increased
FACS effector memory CD4 T cells in CD4 T cells - increased
FACS effector memory CD8 T cells in CD8 T cells - increased
FACS naive CD4 T cells in CD4 T cells - decreased
FACS naive CD8 T cells in CD8 T cells - decreased
FACS T cells - decreased
MCMV susceptibility
C ⇒ A nonsense probably null
21 UTSW Atm 0.906 mockingbird 9 53439149-53536740 bp (-) 53516467 Autosomal Recessive (12;76)
Autosomal Semidominant (2;8)
0.948 2019-09-04
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
22 UTSW Prkdc 0.949 liming 16 15637866-15842235 bp (+) 15752829 Autosomal Recessive (30;390) 0.958 2019-09-04
Diantha La Vine
Body Weight - decreased
Body Weight (Male) - decreased
Body Weight (Z-score) - decreased
Body Weight (Z-score, male) - decreased
Bone: Tibia Length (AI, residual) - decreased
Bone: Tibia Length (AI, residual, 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 NK1.1+ T cells - decreased
FACS T cells - decreased
C ⇒ A nonsense probably null
23 UTSW Siglecg 0.067 shenandoah2 7 43408204-43418358 bp (+) 43412017 Autosomal Recessive (1;13)
Autosomal Semidominant (3;12)
0.546 2019-09-04
Diantha La Vine
FACS B1 cells - increased
FACS CD4:CD8 - increased
FACS CD4+ T cells in CD3+ T cells - increased
FACS CD8+ T cells in CD3+ T cells - decreased
C ⇒ A missense possibly damaging 0.819
24 UTSW Lepr 0.000 fluffy 4 101717404-101815352 bp (+) 101792023 Autosomal Recessive (98;1087)
Autosomal Semidominant (4;16)
0.885 2019-09-04
Diantha La Vine
Body Weight - increased
Body Weight (BP, z-score, female) - increased
Body Weight (BP, z-score, male) - increased
Body Weight (Female) - increased
Body Weight (Male) - increased
Body Weight (Z-score) - increased
Body Weight (Z-score, female) - increased
Body Weight (Z-score, male) - increased
Bone: Femur Length (AI, residual, female) - decreased
Bone: Pelvis Length (AI, residual) - decreased
Bone: Pelvis Length (AI, residual, female) - decreased
Bone: Tibia Length (AI, residual) - decreased
Bone: Tibia Length (AI, residual, female) - decreased
Bone: Tibia Length (AI, residual, male) - 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
growth/size
C ⇒ A missense probably damaging 1.000
25 UTSW Ikzf1 0.000 waxwing 11 11685003-11772926 bp (+) 11748464 Autosomal Dominant (1;4)
Autosomal Recessive (11;124), Autosomal Semidominant (6;65)
0.973 2019-09-04
Diantha La Vine
Body Weight (BP, z-score, male) - decreased
FACS B cells - decreased
FACS B:T cells - decreased
FACS B1 cells - decreased
FACS B1a cells - increased
FACS B1b cells - increased
FACS B1b cells in B1 cells - decreased
FACS B2 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 - decreased
FACS CD44+ CD4 T cells - decreased
FACS CD44+ CD8 MFI - increased
FACS CD44+ CD8 T cells - 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 CD8 T cells in CD8 T cells - increased
FACS IgD MFI - decreased
FACS IgD+ B cell percentage - decreased
FACS IgM MFI - 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 - increased
FACS NK cells - decreased
FACS NK1.1+ T cells - increased
FACS T cells - increased
C ⇒ A nonsense probably null
26 UTSW Cd79b 0.100 hallasan 11 106311341-106314762 bp (-) 106312441 Autosomal Dominant (1;4)
Autosomal Recessive (11;178), Autosomal Semidominant (1;23)
0.925 2019-09-04
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 T cells - increased
FACS CD44+ CD8 T cells - increased
FACS CD44+ T cells - increased
FACS CD8+ T cells - increased
FACS effector memory CD4 T cells in CD4 T cells - decreased
FACS NK cells - decreased
FACS T cells - increased
C ⇒ A critical splice acceptor site probably null
27 UTSW Ptprc 0.000 jirisan 1 138062861-138175708 bp (-) 138113678 Autosomal Dominant (1;14)
Autosomal Recessive (18;122), Autosomal Semidominant (2;12)
0.974 2019-09-04
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
28 UTSW Nckap1l 0.884 hem-haw 15 103453794-103498810 bp (+) 103471232 Autosomal Recessive (41;387) 0.970 2019-09-04
Diantha La Vine
Body Weight - decreased
Body Weight (BP, z-score, male) - decreased
Body Weight (Male) - decreased
Body Weight (Z-score) - decreased
Body Weight (Z-score, male) - decreased
Bone: Pelvis Length (AI, residual) - decreased
Bone: Pelvis Length (AI, residual, male) - decreased
Bone: Tibia Length (AI, residual) - decreased
Bone: Tibia Length (AI, residual, male) - decreased
FACS B cells - decreased
FACS B:T cells - decreased
FACS CD4:CD8 - decreased
FACS CD4+ T cells - decreased
FACS CD4+ T cells in CD3+ T cells - decreased
FACS CD44+ CD4 MFI - increased
FACS CD44+ CD8 MFI - increased
FACS CD44+ T cells - increased
FACS CD44+ T MFI - increased
FACS CD8+ T cells - decreased
FACS CD8+ T cells in CD3+ T cells - increased
FACS central memory CD8 T cells in CD8 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 NK cells - decreased
FACS T cells - decreased
C ⇒ A nonsense probably null
29 UTSW Pappa 0.000 caer 4 65124174-65357509 bp (+) 65124891 Autosomal Recessive (48;392)
Autosomal Semidominant (1;5)
0.672 2019-09-04
Diantha La Vine
Body Weight - decreased
Body Weight (BP, z-score, male) - decreased
Body Weight (Male) - decreased
Body Weight (Z-score) - decreased
Body Weight (Z-score, male) - decreased
Bone: Femur Length (AI, residual) - decreased
Bone: Femur Length (AI, residual, male) - decreased
Bone: Fore Hip Distance (AI) - decreased
Bone: Hind Hip Distance (AI) - decreased
Bone: Pelvis Length (AI, residual) - decreased
Bone: Pelvis Length (AI, residual, male) - decreased
Bone: Tibia Length (AI, residual) - decreased
Bone: Tibia Length (AI, residual, male) - decreased
C ⇒ A missense probably damaging 0.978
30 UTSW Rel 0.000 Amun-ra 11 23736847-23770970 bp (-) 23757026 Unknown (2;0)
Autosomal Dominant (1;10), Autosomal Recessive (2;24), Autosomal Semidominant (8;56)
0.964 2019-09-04
Bruce Beutler
FACS B1 cells - decreased
FACS CD4+ T cells - increased
FACS CD44+ CD4 T cells - decreased
FACS central memory CD4 T cells in CD4 T cells - decreased
FACS T cells - increased
IgE response to a Cysteine Protease (Papain) - decreased
IgG1 response to a Cysteine Protease (Papain) - decreased
ratio of OVA-specific IgE over the total IgE - increased
T-dependent humoral response defect- decreased antibody response to OVA+ alum immunization
T-independent B cell response defect- decreased TNP-specific IgM to TNP-Ficoll immunization
total IgE level - decreased
C ⇒ A nonsense probably null
31 UTSW Kcna2 1.000 grim 3 107101146-107115005 bp (+) 107105027 Unknown failed initial filter 2019-09-04
Anne Murray
lethality-postnatal
C ⇒ A missense probably damaging 1.000
32 UTSW Scyl1 0.878 spartacus 19 5758427-5771401 bp (-) 5760826 Autosomal Recessive (20;131) 0.652 2019-09-04
Anne Murray
behavior/neurological
Body Weight (BP, z-score, female) - decreased
Body Weight (BP, z-score, male) - decreased
Body Weight (DSS Female) - decreased
Body Weight (DSS Male) - decreased
Body Weight (DSS) - decreased
Body Weight (DSS, z-score) - decreased
Body Weight (DSS, z-score, female) - decreased
Body Weight (DSS, z-score, male) - decreased
FACS B1b cells - decreased
FACS B2 cells - increased
C ⇒ A missense probably damaging 0.999
33 UTSW Lepr 0.000 donner 4 101717404-101815352 bp (+) 101815201 Autosomal Recessive (14;92)
Autosomal Semidominant (7;43)
0.774 2019-09-04
Anne Murray
Body Weight (BP, z-score, female) - increased
Body Weight (BP, z-score, male) - increased
Body Weight (DSS Female) - increased
Body Weight (DSS Male) - increased
Body Weight (DSS) - increased
Body Weight (DSS, z-score) - increased
Body Weight (DSS, z-score, female) - increased
Body Weight (DSS, z-score, male) - increased
FACS B220 MFI - decreased
C ⇒ A missense probably damaging 1.000
34 UTSW Trp53bp1 0.000 lentil 2 121193281-121271407 bp (-) 121251868 Autosomal Recessive (4;18) 0.912 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
35 UTSW Slc45a2 0.110 cardigan 15 11000721-11029233 bp (+) 11022172 Unknown no linkage results 2019-04-23
Diantha La Vine
pigmentation
skin/coat/nails
C ⇒ A synonymous probably benign
36 UTSW Spag9 0.799 dazzle 11 93996091-94126085 bp (+) 94093624 Unknown no linkage results 2018-04-26
Anne Murray
pigmentation
skin/coat/nails
C ⇒ A nonsense probably null
37 UTSW Hcfc2 0.216 Minions 10 82696160-82742428 bp (+) 82739245 Unknown failed initial filter 2017-10-05
Anne Murray
TLR signaling defect: TNF production by macrophages
C ⇒ A missense probably damaging 1.000
38 UTSW Prf1 0.000 prime 10 61297833-61304680 bp (+) 61303722 Autosomal Recessive (1;5) 0.080 2016-05-13
Anne Murray
MCMV susceptibility
C ⇒ A nonsense probably null
39 UTSW Msx2 0.000 duke 13 53466884-53473074 bp (-) 53468395 Autosomal Recessive (1;3) failed initial filter 2016-05-13
Anne Murray
skin/coat/nails
vision/eye
C ⇒ A missense probably damaging 1.000
40 UTSW Tomt 0.193 add 7 101898370-101906359 bp (-) 101902129 Unknown no linkage results 2016-05-13
Stephen Lyon
behavior/neurological
hearing/vestibular/ear
nervous system
C ⇒ A missense probably damaging 0.999
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