Phenotypic Mutations

518 mutations affecting 270 genes are currently displayed.

Mutations Mapped and Identified Based on Phenotype
[records 1 to 100 of 519] per page Full List
 



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Verification Probability

Phenotypic Category

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1 UTSW Asf1b 0.000 contraire 8 83955507-83970197 bp (+) 83955911 Autosomal Recessive (3;14) 0.593 2022-04-23
Diantha La Vine
FACS CD44+ CD8 MFI - increased
FACS effector memory CD8 T cells in CD8 T cells - increased
OVA-specific IgE - increased
total IgE level - increased
T ⇒ C missense probably damaging 0.999
2 UTSW Ltbr 0.118 Armitage 6 125306571-125313885 bp (-) 125312794 Autosomal Recessive (1;5)
Autosomal Semidominant (1;2)
0.800 2022-04-15
External Program
T-independent B cell response defect- decreased TNP-specific IgM to TNP-Ficoll immunization
G ⇒ A missense probably damaging 0.973
3 UTSW Prkdc 0.949 Screamer10 16 15637866-15842235 bp (+) 15768025 Unknown no linkage result 2022-04-15
External Program
A ⇒ T missense probably damaging 0.981
4 UTSW Mbtps1 1.000 woodrat 8 119508156-119558735 bp (-) 119529030 Unknown (1;0) no linkage results 2022-04-12
External Program
Body Weight - decreased
Body Weight (Z-score) - 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
5 UTSW Dck 0.000 rosa 5 88764996-88783281 bp (+) 88772723 Autosomal Recessive (19;119) 0.978 2022-04-12
External Program
Body Weight - decreased
Body Weight (Z-score) - 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
6 UTSW Ttc21b 1.000 plus-sized 2 66184327-66256617 bp (-) 66242679 Autosomal Recessive (3;29) 0.484 2022-04-12
External Program
Body Weight - increased
Body Weight (Female) - increased
Body Weight (Z-score) - increased
Body Weight (Z-score, female) - increased
A ⇒ G missense probably damaging 0.998
7 UTSW Pi4ka 1.000 Pia 16 17280351-17406314 bp (-) 17281044 Autosomal Recessive (3;18)
Autosomal Semidominant (3;12)
0.381 2022-04-12
External Program
FACS CD44+ CD4 T cells - increased
FACS CD44+ T cells - increased
FACS central 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
MTT Value of PECs - decreased
C ⇒ T missense probably damaging 0.997
8 UTSW Smcr8 0.000 patriot 11 60777524-60788287 bp (+) 60778032 Autosomal Recessive (6;34)
Autosomal Semidominant (1;6)
0.931 2022-04-12
External Program
DSS: sensitive day 10
DSS: sensitive day 7
FACS B1a cells - increased
FACS B1a cells in B1 cells - increased
FACS B220 MFI - increased
FACS CD44+ CD4 MFI - increased
FACS CD44+ CD4 T cells - increased
FACS CD44+ CD8 MFI - increased
FACS CD44+ CD8 T cells - increased
FACS CD44+ T cells - increased
FACS CD44+ T MFI - increased
FACS CD8+ 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 naive CD8 T cells in CD8 T cells - decreased
TLR signaling defect: hypersensitivity to CpG + IFNg
total IgE level - increased
T ⇒ C missense probably damaging 1.000
9 UTSW Wdr81 1.000 jello 11 75440944-75454717 bp (-) 75441812 Autosomal Dominant (1;5)
Autosomal Recessive (4;22)
0.812 2022-04-12
External Program
Body Weight - decreased
Body Weight (DSS) - decreased
Body Weight (DSS, z-score) - decreased
Body Weight (Male) - decreased
Body Weight (Z-score) - decreased
Body Weight (Z-score, male) - decreased
dsDNA induced type I IFN production - decreased
impaired response to dsDNA- type I IFN production by macrophages
LPS-induced Necroptosis - decreased
Macrophage necroptosis: low
A ⇒ G missense probably damaging 1.000
10 UTSW Bcl10 0.000 Derek 3 145922804-145934356 bp (+) 145930587 Autosomal Recessive (13;147)
Autosomal Semidominant (2;11)
0.907 2022-04-12
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
11 UTSW Slc9a8 0.000 costello 2 167421712-167477000 bp (+) 167451296 Autosomal Recessive (1;5) 0.421 2022-04-12
External Program
DSS: sensitive day 7
T ⇒ A missense probably damaging 1.000
12 UTSW Gys2 0.272 candy_corn 6 142422613-142473109 bp (-) 142456333 Autosomal Recessive (2;13) 0.046 2022-04-12
External Program
30 min GTT hyperoglycemic (female)
T ⇒ C missense probably benign 0.001
13 UTSW Arnt2 1.000 Arnold2 7 84246278-84410176 bp (-) 84347530 Autosomal Dominant (3;4)
Autosomal Semidominant (4;22)
0.977 2022-04-12
External Program
Body Weight - 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
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
14 UTSW Cd36 0.152 almond_joy 5 17781690-17888801 bp (-) 17813088 Autosomal Recessive (1;5) no linkage result 2022-04-12
External Program
T ⇒ A missense probably damaging 1.000
15 UTSW Arcn1 0.000 greyhound 9 44741564-44767845 bp (-) 44750394 Unknown failed initial filter 2022-03-09
Diantha La Vine
pigmentation
skin/coat/nails
A ⇒ G missense possibly damaging 0.917
16 UTSW Adgrf5 0.000 sweetie 17 43360451-43459557 bp (+) 43450983 Autosomal Recessive (1;5) 0.049 2021-12-13
Diantha La Vine
30 min GTT hyperglycemic
A ⇒ T missense probably damaging 0.957
17 UTSW Apbb2 0.000 Dionysis 5 66298703-66618784 bp (-) 66452250 Autosomal Recessive (1;4)
Autosomal Semidominant (2;8)
0.559 2021-11-30
Diantha La Vine
30 min GTT hyperglycemic
30 min GTT hyperglycemic (male)
post-MCMV FACS effector memory CD8 T cells in CD8 T cells - increased
A ⇒ T missense probably damaging 0.986
18 UTSW Apbb2 0.000 bund 5 66298703-66618784 bp (-) 66400255 Autosomal Recessive (1;3) failed initial filter 2021-11-30
Diantha La Vine
30 min GTT hyperglycemic
30 min GTT hyperglycemic (male)
T ⇒ A missense probably damaging 0.996
19 UTSW Ap3d1 0.943 christian 10 80706956-80742264 bp (-) 80730042 Autosomal Semidominant (1;0) failed initial filter 2021-11-22
Diantha La Vine
pigmentation
skin/coat/nails
G ⇒ T missense probably damaging 1.000
20 UTSW Ap3b1 0.358 bella 13 94358960-94566317 bp (+) 94528257 Autosomal Recessive (1;4) 0.512 2021-11-22
Diantha La Vine
pigmentation
skin/coat/nails
A ⇒ T missense unknown
21 UTSW Alx4 0.584 goofy 2 93642384-93681339 bp (+) 93675369 Unknown no linkage results 2021-11-17
Diantha La Vine
craniofacial
limbs/digits/tail phenotype
A ⇒ G missense probably damaging 1.000
22 UTSW Alms1 0.000 portly 6 85587531-85702753 bp (+) 85619712 Autosomal Recessive (5;24) 0.967 2021-11-17
Diantha La Vine
Body Weight - increased
Body Weight (BP, z-score, female) - 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
T ⇒ C missense probably benign 0.004
23 UTSW Aicda 0.000 bellezza 6 122553801-122564180 bp (+) 122561185 Autosomal Dominant (2;8)
Autosomal Recessive (8;44), Autosomal Semidominant (1;9)
0.749 2021-11-15
Diantha La Vine
LPS-induced Necroptosis - decreased
Macrophage necroptosis: low
NALP3 inflammasome signaling defect
Nlrc4 inflammasome: high response
NLRP3 inflammasome: high response
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
TLR signaling defect: hypersensitivity to LPS
TLR signaling defect: hypersensitivity to PAM3CSK4
TLR signaling defect: TNF production by macrophages
Total IgE After 2nd OVA/Alum Challenge (day 7) - decreased
total IgE level - decreased
A ⇒ G missense probably benign 0.029
24 UTSW Adra2a 0.000 splenda2 19 54045182-54048982 bp (+) 54046639 Autosomal Recessive (4;19)
Autosomal Semidominant (1;4)
0.867 2021-11-10
Diantha La Vine
30 min GTT hypoglycemic
30 min GTT hypoglycemic (female)
30 min GTT hypoglycemic (male)
T ⇒ C missense probably damaging 1.000
25 UTSW Adra2a 0.000 splenda 19 54045182-54048982 bp (+) 54046495 Autosomal Recessive (6;32)
Autosomal Semidominant (2;11)
0.704 2021-11-10
Diantha La Vine
30 min GTT hypoglycemic
30 min GTT hypoglycemic (female)
30 min GTT hypoglycemic (male)
A ⇒ G missense probably damaging 1.000
26 UTSW Adgre1 0.322 Scallion 17 57358686-57483529 bp (+) 57401977 Autosomal Semidominant (1;10) 0.286 2021-11-01
Diantha La Vine
FACS macrophages - decreased
A ⇒ G missense possibly damaging 0.899
27 UTSW Adgre1 0.322 lomax 17 57358686-57483529 bp (+) 57402811 Autosomal Recessive (1;7) 0.418 2021-11-01
Diantha La Vine
FACS macrophages - decreased
A ⇒ G missense unknown
28 UTSW Adgre1 0.322 F480 17 57358686-57483529 bp (+) 57444063 Unknown no linkage results 2021-11-01
Diantha La Vine
immune system
normal phenotype
A ⇒ G missense probably damaging 1.000
29 UTSW Tlr9 0.141 Cpg1 9 106222598-106226883 bp (+) 106225007 Unknown (3;0) no linkage results 2021-10-28
Stephen Lyon
immune system
MCMV susceptibility
response to injected CpG DNA - decreased
TLR signaling defect: TNF production by macrophages
T ⇒ C missense probably damaging 1.000
30 UTSW Tlr9 0.141 Cpg11 9 106222598-106226883 bp (+) 106224586 Unknown (1;0) no linkage results 2021-10-28
Stephen Lyon
TLR signaling defect: TNF production by macrophages
T ⇒ C missense probably damaging 0.999
31 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
32 UTSW Adamts20 0.144 pikachu 15 94270163-94465418 bp (-) 94345990 Autosomal Recessive (1;1) failed initial filter 2021-10-21
Diantha La Vine
pigmentation
skin/coat/nails
A ⇒ T missense probably damaging 1.000
33 UTSW Adamts20 0.144 meowth 15 94270163-94465418 bp (-) 94331458 Autosomal Recessive (1;1) failed initial filter 2021-10-21
Diantha La Vine
pigmentation
skin/coat/nails
A ⇒ C missense probably damaging 1.000
34 UTSW Adamts20 0.144 nidoking 15 94270163-94465418 bp (-) 94403445 Autosomal Recessive (1;12) 0.580 2021-10-21
Diantha La Vine
pigmentation
skin/coat/nails
C ⇒ T missense probably damaging 0.999
35 UTSW Adamts20 0.144 buckeye 15 94270163-94465418 bp (-) 94341087 Unknown (1;0) failed initial filter 2021-10-19
Diantha La Vine
pigmentation
skin/coat/nails
C ⇒ T missense probably damaging 0.999
36 UTSW Adam17 0.928 wavedx 12 21323509-21373632 bp (-) 21340750 Unknown no linkage results 2021-10-19
Diantha La Vine
skin/coat/nails
vision/eye
A ⇒ T missense probably damaging 1.000
37 UTSW Irf1 0.000 Endeka2 11 53770014-53778374 bp (+) 53771322 Autosomal Recessive (5;56)
Autosomal Semidominant (11;53)
0.802 2021-02-25
External Program
FACS B1 cells - increased
FACS CD4:CD8 - increased
FACS CD4+ T cells - increased
FACS CD4+ T cells in CD3+ T cells - 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 - decreased
FACS NK cells - decreased
C ⇒ G missense probably damaging 1.000
38 UTSW Atm 0.906 Tropo 9 53439149-53536740 bp (-) 53531648 Unknown (2;0) no linkage result 2020-12-09
External Program
A ⇒ G missense probably damaging 1.000
39 UTSW Stk4 0.000 Sergeant 2 164070322-164155524 bp (+) 164099712 Autosomal Recessive (2;10)
Autosomal Semidominant (2;8)
0.934 2020-07-29
External Program
FACS B cells - increased
FACS B:T cells - increased
FACS B1a cells in B1 cells - decreased
FACS B1b cells in B1 cells - increased
FACS B220 MFI - decreased
FACS CD11b+ DCs (gated in CD11c+ cells) - increased
FACS CD4:CD8 - increased
FACS CD4+ T cells - decreased
FACS CD4+ T cells in CD3+ T cells - increased
FACS CD44+ CD4 MFI - increased
FACS CD44+ CD8 MFI - increased
FACS CD44+ T MFI - increased
FACS CD8+ T cells - decreased
FACS CD8+ T cells in CD3+ T cells - decreased
FACS central memory CD4 T cells in CD4 T cells - increased
FACS central memory CD8 T cells in CD8 T cells - increased
FACS effector memory CD4 T cells in CD4 T cells - increased
FACS effector memory CD8 T cells in CD8 T cells - increased
FACS IgD MFI - decreased
FACS 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 - increased
FACS T cells - decreased
T-dependent humoral response defect- decreased antibody response to rSFV
T-independent B cell response defect- decreased TNP-specific IgM to TNP-Ficoll immunization
Total IgE After 2nd OVA/Alum Challenge (day 7) - increased
A ⇒ G missense probably benign 0.000
40 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
41 UTSW Ebf1 0.888 Oregano 11 44617317-45008091 bp (+) 44869169 Autosomal Recessive (14;96)
Autosomal Semidominant (4;22)
0.955 2020-07-29
External Program
FACS B cells - decreased
FACS B:T cells - decreased
FACS B1 cells - decreased
FACS B1a cells - increased
FACS B1a cells in B1 cells - increased
FACS B1b cells - increased
FACS B2 cells - decreased
FACS CD4+ T cells - increased
FACS CD8+ T cells - increased
FACS IgD MFI - decreased
FACS IgD+ B cell percentage - decreased
FACS IgM+ B cells - decreased
FACS T cells - increased
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 missense probably damaging 1.000
42 UTSW 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
43 UTSW Bcl3 0.000 Memorial 7 19808462-19822770 bp (-) 19812484 Autosomal Recessive (1;5)
Autosomal Semidominant (1;4)
0.317 2020-07-29
External Program
FACS central memory CD8 T cells in CD8 T cells - increased
T ⇒ A missense probably damaging 1.000
44 UTSW Pax5 1.000 Glacier 4 44524757-44710487 bp (-) 44679494 Autosomal Recessive (2;21)
Autosomal Semidominant (1;7)
0.875 2020-07-29
External Program
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
45 UTSW Prkdc 0.949 Daffy 16 15637866-15842235 bp (+) 15829697 Autosomal Semidominant (1;4) 0.554 2020-07-29
External Program
FACS CD44+ CD4 MFI - increased
A ⇒ T missense possibly damaging 0.861
46 UTSW Tlr4 0.000 Cruyff 4 66827584-66930284 bp (+) 66840326 Autosomal Recessive (3;31)
Autosomal Semidominant (3;16)
0.941 2020-07-29
External Program
LPS-induced Necroptosis - decreased
Macrophage necroptosis: low
NALP3 inflammasome signaling defect
NLRP3 inflammasome: low response
TLR signaling defect: hyposensitivity to LPS
TLR signaling defect: TNF production by macrophages
T ⇒ A missense probably damaging 1.000
47 UTSW Pik3r1 0.000 Astro_boy 13 101680563-101768217 bp (-) 101701732 Autosomal Recessive (2;12)
Autosomal Semidominant (1;4)
0.123 2020-07-29
External Program
FACS B cells - decreased
FACS B:T cells - decreased
FACS B1 cells - decreased
FACS B220 MFI - decreased
FACS CD11b+ DCs (gated in CD11c+ cells) - increased
FACS CD4+ T cells - increased
FACS IgD+ B cell percentage - decreased
FACS IgM MFI - increased
FACS IgM+ B cells - decreased
IgE response to a Cysteine Protease (Papain) - increased
resistance to B10-F16 melanoma - decreased
A ⇒ T missense probably damaging 1.000
48 UTSW Inpp5d 0.875 sailing 1 87620312-87720507 bp (+) 87705964 Autosomal Dominant (2;10)
Autosomal Recessive (3;21)
0.888 2020-06-05
Thomas Gallagher
125-03 Response - increased
FACS IgM MFI - decreased
FACS NK cells - decreased
LPS-induced Necroptosis - decreased
Macrophage necroptosis: low
TLR signaling defect: hypersensitivity to PAM3CSK4
TLR signaling defect: TNF production by macrophages
A ⇒ G missense probably damaging 1.000
49 UTSW Inpp5d 0.875 pantone 1 87620312-87720507 bp (+) 87699675 Autosomal Recessive (106;872)
Autosomal Semidominant (4;27)
0.978 2020-05-29
Thomas Gallagher
Body Weight - decreased
Body Weight (BP, z-score, female) - decreased
Body Weight (BP, z-score, male) - decreased
Body Weight (Female) - decreased
Body Weight (Male) - decreased
Body Weight (Z-score) - decreased
Body Weight (Z-score, female) - decreased
Body Weight (Z-score, male) - decreased
Bone: Femur Length (AI, residual) - decreased
Bone: Femur Length (AI, residual, female) - decreased
Bone: Femur Length (AI, residual, male) - decreased
Bone: Fore Hip Distance (AI) - decreased
Bone: Fore Hip Distance (AI, female) - decreased
Bone: Fore Hip Distance (AI, male) - decreased
Bone: Hind Hip Distance (AI) - decreased
Bone: Hind Hip Distance (AI, female) - decreased
Bone: Hind Hip Distance (AI, male) - decreased
Bone: Pelvis Length (AI, residual) - decreased
Bone: Pelvis Length (AI, residual, female) - decreased
Bone: Pelvis Length (AI, residual, male) - decreased
Bone: Tibia Length (AI, residual) - decreased
Bone: Tibia Length (AI, residual, female) - decreased
Bone: Tibia Length (AI, residual, male) - decreased
FACS B cells - decreased
FACS B:T cells - decreased
FACS B1 cells - increased
FACS B220 MFI - 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 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 - 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 - decreased
FACS NK1.1+ T cells - decreased
FACS T cells - decreased
T ⇒ A missense probably damaging 0.999
50 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
51 UTSW Syk 1.000 Sisyphus 13 52583173-52648792 bp (+) 52640790 Unknown (4;0)
Autosomal Dominant (1;6)
0.232 2020-01-15
Eva Marie Y. Moresco
FACS B cells - increased
IgE response to a Cysteine Protease (Papain) - increased
A ⇒ G missense probably damaging 1.000
52 UTSW Lig4 1.000 posey 8 9969049-9977686 bp (-) 9972955 Autosomal Recessive (16;134)
Autosomal Semidominant (2;8)
0.977 2019-12-05
External Program
FACS B 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+ 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 CD8+ T cells in CD3+ T cells - increased
FACS central memory CD4 T cells in CD4 T cells - increased
FACS central memory CD8 T cells in CD8 T cells - increased
FACS effector memory CD4 T cells in CD4 T cells - increased
FACS effector memory CD8 T cells in CD8 T cells - increased
FACS 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 naive CD8 T cells in CD8 T cells - decreased
FACS NK cells - increased
FACS T cells - decreased
T-dependent humoral response defect- decreased antibody response to OVA+ alum immunization
T ⇒ C missense probably damaging 1.000
53 UTSW Pparg 1.000 Energy 6 115360951-115490399 bp (+) 115451044 Unknown (4;0)
Autosomal Dominant (4;15)
0.347 2019-11-06
Bruce Beutler
Body Weight - decreased
Body Weight (DSS) - decreased
Body Weight (DSS, z-score) - decreased
growth/size
G ⇒ T missense probably damaging 1.000
54 UTSW Elmo1 0.000 Debil 13 20090596-20608353 bp (+) 20373161 Autosomal Dominant (2;10)
Autosomal Recessive (2;11), Autosomal Semidominant (3;11)
0.805 2019-10-29
Diantha La Vine
FACS B220 MFI - decreased
FACS CD4:CD8 - 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 NK cells - decreased
T ⇒ C missense probably damaging 1.000
55 UTSW Ryr2 1.000 Arruda2 13 11553102-12106945 bp (-) 11879496 Autosomal Recessive (4;16)
Autosomal Semidominant (3;23)
no linkage result 2019-10-29
Anne Murray
G ⇒ T missense probably damaging 0.998
56 UTSW Il2rb 0.083 Whistles 15 78479256-78495271 bp (-) 78481936 Autosomal Dominant (1;3)
Autosomal Recessive (2;8), Autosomal Semidominant (5;21)
0.667 2019-10-23
Diantha La Vine
DSS: sensitive day 10
TLR signaling defect: hyposensitivity to LPS
TLR signaling defect: hyposensitivity to PAM3CSK4
TLR signaling defect: hyposensitivity to R848
TLR signaling defect: TNF production by macrophages
total IgE level - increased
T ⇒ A missense possibly damaging 0.721
57 UTSW Syk 1.000 Poppy 13 52583173-52648792 bp (+) 52640733 Unknown (2;0)
Autosomal Dominant (2;2), Autosomal Recessive (2;2), Autosomal Semidominant (1;3)
failed initial filter 2019-10-23
Anne Murray
FACS B cells - decreased
TLR signaling defect: hypersensitivity to LPS
TLR signaling defect: hypersensitivity to MALP2
TLR signaling defect: hypersensitivity to R848
TLR signaling defect: hyposensitivity to R848
TLR signaling defect: TNF production by macrophages
A ⇒ G missense probably damaging 1.000
58 UTSW Prkce 0.000 Pinnacles 17 86167785-86657919 bp (+) 86476851 Autosomal Semidominant (1;5) 0.033 2019-10-23
Anne Murray
FACS NK cells - decreased
C ⇒ T missense probably damaging 0.997
59 UTSW Zbtb1 0.767 Old_friend 12 76370266-76396950 bp (+) 76385891 Autosomal Recessive (1;6)
Autosomal Semidominant (2;10)
0.090 2019-10-23
Anne Murray
FACS CD44+ CD8 MFI - increased
FACS central memory CD8 T cells in CD8 T cells - increased
FACS NK1.1+ T cells - increased
C ⇒ T missense probably damaging 0.965
60 UTSW Ptpn6 0.516 Naphthalene 6 124720707-124738714 bp (-) 124721789 Autosomal Dominant (1;5)
Autosomal Recessive (1;4), Autosomal Semidominant (1;5)
0.372 2019-10-23
Anne Murray
FACS CD4:CD8 - decreased
FACS CD4+ T cells in CD3+ T cells - decreased
FACS CD44+ T MFI - increased
T ⇒ C missense probably benign 0.423
61 UTSW Trpc1 0.139 Magnified 9 95705082-95750375 bp (-) 95726437 Autosomal Recessive (5;24)
Autosomal Semidominant (5;29)
0.546 2019-10-23
Diantha La Vine
Body Weight - increased
Body Weight (Female) - increased
Body Weight (Male) - increased
Body Weight (Z-score) - increased
T ⇒ C missense probably damaging 1.000
62 UTSW Nlrc4 0.168 Inwood 17 74426295-74459108 bp (-) 74445630 Autosomal Semidominant (1;3) failed initial filter 2019-10-23
Peter Jurek
Nlrc4 inflammasome: low response
A ⇒ G missense probably damaging 0.999
63 UTSW Rab38 0.586 Fenrir 7 88430273-88491572 bp (+) 88450541 Autosomal Semidominant (1;5) 0.541 2019-10-23
Anne Murray
pigmentation
skin/coat/nails
T ⇒ A missense probably damaging 0.995
64 UTSW Hps3 0.182 Blue 3 19995945-20035315 bp (-) 20030796 Autosomal Semidominant (1;1) failed initial filter 2019-10-23
Anne Murray
pigmentation
skin/coat/nails
A ⇒ C missense probably damaging 1.000
65 UTSW Ryr2 1.000 Arruda3 13 11553102-12106945 bp (-) 11555448 Autosomal Dominant (1;4) no linkage result 2019-10-23
Anne Murray
T ⇒ A missense possibly damaging 0.907
66 UTSW Cd8a 0.064 Alfalfa 6 71373427-71379173 bp (+) 71373728 Autosomal Dominant (1;4)
Autosomal Recessive (6;46), Autosomal Semidominant (7;68)
0.893 2019-10-23
Anne Murray
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 naive CD8 T cells in CD8 T cells - decreased
MCMV susceptibility
post-MCMV FACS CD4+ T cells in CD3+ T cells - increased
post-MCMV FACS CD44+ CD8 MFI - increased
post-MCMV FACS CD8+ T cells - decreased
post-MCMV FACS CD8+ T cells in CD3+ T cells - decreased
post-MCMV FACS naive CD8 T cells in CD8 T cells - decreased
T ⇒ A missense probably damaging 0.989
67 UTSW Prkcb 0.000 tigris 7 122288751-122634402 bp (+) 122424977 Autosomal Recessive (2;9)
Autosomal Semidominant (1;4)
0.942 2019-10-14
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
68 UTSW Ptpn6 0.516 farfalla_notturna 6 124720707-124738714 bp (-) 124732435 Autosomal Recessive (19;135) 0.954 2019-09-04
Diantha La Vine
FACS B cells - decreased
FACS B1 cells - increased
FACS CD4:CD8 - decreased
FACS CD4+ T cells in CD3+ T cells - decreased
FACS CD44+ CD4 MFI - increased
FACS CD44+ CD8 MFI - increased
FACS CD44+ T MFI - 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 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
T ⇒ C missense probably damaging 1.000
69 UTSW Zeb1 0.959 serpens 18 5591860-5775467 bp (+) 5772455 Autosomal Recessive (1;3) failed initial filter 2019-09-04
Anne Murray
T-independent B cell response defect- decreased TNP-specific IgM to TNP-Ficoll immunization
T ⇒ A missense probably damaging 0.998
70 UTSW Jak3 0.753 mount_tai 8 71676296-71690575 bp (+) 71683377 Autosomal Recessive (28;212)
Autosomal Semidominant (3;15)
0.977 2019-09-04
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 CD11c+ DCs - 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
71 UTSW Insr 0.883 gummi_bear 8 3122061-3279617 bp (-) 3161770 Autosomal Recessive (2;10)
Autosomal Semidominant (1;2)
0.758 2019-09-04
Diantha La Vine
DSS: sensitive day 10
DSS: sensitive day 7
FACS neutrophils - increased
A ⇒ G missense probably damaging 1.000
72 UTSW Rac2 0.000 bingo 15 78559167-78572783 bp (-) 78564968 Autosomal Recessive (1;6) 0.843 2019-09-04
Anne Murray
T-independent B cell response defect- decreased TNP-specific IgM to TNP-Ficoll immunization
T ⇒ C missense probably damaging 1.000
73 UTSW Nlrp3 0.104 Park3 11 59541568-59566956 bp (+) 59565850 Autosomal Semidominant (1;3) failed initial filter 2019-09-04
Diantha La Vine
NALP3 inflammasome signaling defect
NLRP3 inflammasome: low response
A ⇒ G missense probably benign 0.017
74 UTSW Rorb 0.000 dee-no 19 18930605-19111196 bp (-) 18955053 Unknown no linkage result 2019-09-04
Anne Murray
A ⇒ G missense probably damaging 1.000
75 UTSW Scn8a 0.794 nymph 15 100869858-101045938 bp (+) 101035646 Unknown (1;0)
Autosomal Recessive (1;5)
0.152 2019-09-04
Anne Murray
behavior/neurological
Body Weight - decreased
growth/size
A ⇒ G missense probably damaging 1.000
76 UTSW Pkd2 1.000 Nephro 5 104459450-104505819 bp (+) 104486806 Unknown (1;0) failed initial filter 2019-09-04
Anne Murray
renal/urinary system
T ⇒ A missense probably damaging 1.000
77 UTSW Sppl2a 0.074 abra 2 126890391-126933235 bp (-) 126923594 Autosomal Recessive (3;13) 0.839 2019-09-04
Katherine Timer
Body Weight (DSS) - decreased
Body Weight (DSS, z-score) - decreased
T-independent B cell response defect- decreased TNP-specific IgM to TNP-Ficoll immunization
A ⇒ G missense probably benign 0.002
78 UTSW Nr3c2 1.000 naughty 8 76899442-77245012 bp (+) 76908668 Autosomal Recessive (1;5) 0.150 2019-09-04
Bruce Beutler
Body Weight - decreased
growth/size
A ⇒ G splice site probably null
79 UTSW Nlrp3 0.104 Park4 11 59541568-59566956 bp (+) 59549531 Autosomal Dominant (1;9)
Autosomal Semidominant (1;6)
0.738 2019-09-04
Diantha La Vine
NALP3 inflammasome signaling defect
NLRP3 inflammasome: low response
A ⇒ G missense probably benign 0.190
80 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
81 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
82 UTSW Prkcb 0.000 Almonde 7 122288751-122634402 bp (+) 122582449 Autosomal Recessive (1;5)
Autosomal Semidominant (4;31)
0.960 2019-09-04
Diantha La Vine
FACS B1 cells - decreased
FACS IgM MFI - increased
post-MCMV FACS B1a cells in B1 cells - decreased
T-independent B cell response defect- decreased TNP-specific IgM to TNP-Ficoll immunization
TLR signaling defect: hyposensitivity to poly I:C
TLR signaling defect: TNF production by macrophages
T ⇒ A missense probably damaging 1.000
83 UTSW Lepr 0.000 paleo 4 101717404-101815352 bp (+) 101745645 Autosomal Recessive (14;189) 0.969 2019-09-04
Diantha La Vine
adipose tissue
Body Weight - 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
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
FACS macrophages - increased
growth/size
T ⇒ A missense possibly damaging 0.938
84 UTSW Nfkb2 0.576 pale_fire 19 46304737-46312090 bp (+) 46311626 Unknown (1;0)
Autosomal Recessive (1;4)
0.049 2019-09-04
Diantha La Vine
FACS B1a cells - increased
A ⇒ T missense possibly damaging 0.956
85 UTSW Nlrp3 0.104 Park5 11 59541568-59566956 bp (+) 59548476 Autosomal Semidominant (2;11) 0.866 2019-09-04
Diantha La Vine
NALP3 inflammasome signaling defect
NLRP3 inflammasome: low response
T ⇒ A missense probably damaging 0.991
86 UTSW Gck 1.000 Grahamcracker 11 5900820-5950081 bp (-) 5902165 Autosomal Recessive (2;8)
Autosomal Semidominant (1;4)
failed initial filter 2019-09-04
Katherine Timer
30 min GTT hyperglycemic
30 min GTT hyperoglycemic (female)
A ⇒ T missense probably damaging 1.000
87 UTSW Tnfsf13b 0.076 Applecrisp 8 10006467-10039072 bp (+) 10031534 Autosomal Recessive (1;1)
Autosomal Semidominant (1;5)
0.950 2019-09-04
Diantha La Vine
FACS B:T cells - decreased
T-dependent humoral response defect- decreased antibody response to rSFV
T ⇒ C missense probably damaging 1.000
88 UTSW Irf7 0.000 Houstonian 7 141262706-141266481 bp (-) 141264022 Autosomal Recessive (1;4) 0.184 2019-09-04
Anne Murray
Nlrc4 inflammasome: high response
T ⇒ C missense probably damaging 0.992
89 UTSW Lyst 0.267 Swallow 13 13590397-13778803 bp (+) 13757422 Autosomal Semidominant (2;11) 0.076 2019-09-04
Diantha La Vine
125-03 Response - decreased
phagocytosis in PECs - increased
T ⇒ C missense probably benign 0.004
90 UTSW Lck 0.000 lockdown 4 129548344-129573641 bp (-) 129558127 Autosomal Recessive (12;64)
Autosomal Semidominant (2;8)
0.945 2019-09-04
Katherine Timer
DSS: resistant day 10
DSS: sensitive day 7
FACS B:T cells - increased
FACS CD4:CD8 - decreased
FACS CD4+ T cells - decreased
FACS CD4+ T cells in CD3+ T cells - decreased
FACS CD44+ 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 CD8 T cells in CD8 T cells - increased
post-MCMV FACS CD4:CD8 - decreased
post-MCMV FACS CD4+ T cells - decreased
post-MCMV FACS CD4+ T cells in CD3+ T cells - decreased
post-MCMV FACS CD8+ T cells in CD3+ T cells - increased
post-MCMV FACS T cells - decreased
T-dependent humoral response defect- decreased antibody response to rSFV
C ⇒ T missense probably damaging 1.000
91 UTSW Nos3 0.000 paul 5 24364810-24384474 bp (+) 24372704 Autosomal Recessive (2;8) 0.315 2019-09-04
Diantha La Vine
DSS: sensitive day 7
T-independent B cell response defect- increased TNP-specific IgM to TNP-Ficoll immunization
C ⇒ T missense probably damaging 1.000
92 UTSW Mc4r 0.107 chubby 18 66857715-66860472 bp (-) 66859847 Autosomal Recessive (5;32) 0.951 2019-09-04
Diantha La Vine
adipose tissue
Body Weight - increased
Body Weight (DSS) - increased
Body Weight (DSS, z-score) - increased
Body Weight (Z-score) - increased
growth/size
A ⇒ T missense probably damaging 0.999
93 UTSW Hr 0.000 yuanxiao 14 70552212-70573548 bp (+) 70571448 Autosomal Recessive (1;4) 0.821 2019-09-04
Diantha La Vine
Body Weight (DSS Male) - decreased
Body Weight (DSS, z-score, 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 B220 MFI - 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 CD44+ CD8 T cells - decreased
FACS CD44+ T cells - decreased
FACS CD8+ 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
94 UTSW Lyst 0.267 lightspeed 13 13590397-13778803 bp (+) 13740536 Autosomal Recessive (1;5) 0.380 2019-09-04
Diantha La Vine
MCMV susceptibility
T ⇒ C missense possibly damaging 0.908
95 UTSW Ksr2 0.164 gigante 5 117414000-117775003 bp (+) 117671449 Unknown (1;0)
Autosomal Recessive (4;18)
0.811 2019-09-04
Anne Murray
Body Weight - increased
Body Weight (Female) - increased
Body Weight (Z-score) - increased
growth/size
impaired response to dsDNA- type I IFN production by macrophages
T ⇒ A missense probably damaging 0.994
96 UTSW Rhbdf2 0.000 Lostnf2 11 116598165-116627019 bp (-) 116600191 Autosomal Semidominant (7;57) 0.951 2019-09-04
Katherine Timer
125-03 Response - decreased
TLR signaling defect: hyposensitivity to LPS
TLR signaling defect: hyposensitivity to PAM3CSK4
TLR signaling defect: hyposensitivity to R848
TLR signaling defect: TNF production by macrophages
A ⇒ T missense possibly damaging 0.936
97 UTSW Atp2b2 0.884 lohan 6 113743831-114042613 bp (-) 113760650 Autosomal Recessive (2;6) 0.315 2019-09-04
Diantha La Vine
behavior/neurological
Body Weight - decreased
hearing/vestibular/ear
A ⇒ G missense probably damaging 1.000
98 UTSW Ccr7 0.241 lanzhou 11 99144196-99155077 bp (-) 99145277 Autosomal Recessive (3;14)
Autosomal Semidominant (1;5)
0.251 2019-09-04
Bruce Beutler
FACS CD4:CD8 - increased
FACS CD4+ T cells - increased
FACS macrophages - decreased
FACS T cells - increased
A ⇒ T missense possibly damaging 0.899
99 UTSW Cd40 0.000 bluebonnet 2 165055627-165072948 bp (+) 165062301 Autosomal Recessive (2;12)
Autosomal Semidominant (1;3)
0.256 2019-09-04
Katherine Timer
OVA-specific IgE - increased
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
T ⇒ C missense probably benign 0.226
100 UTSW Tlr3 0.088 Rakshasa 8 45395665-45411080 bp (-) 45397697 Autosomal Dominant (1;4) 0.033 2019-09-04
Katherine Timer
TLR signaling defect: hyposensitivity to poly I:C
TLR signaling defect: TNF production by macrophages
A ⇒ G missense probably benign 0.084
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