Phenotypic Mutations

848 mutations affecting 361 genes are currently displayed.

Mutations Mapped and Identified Based on Phenotype
[records 1 to 100 of 850] per page Full List
 



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Verification Probability

Phenotypic Category

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1 UTSW Apbb2 0.000 Dionysis 5 66298703-66618784 bp (-) 66452250 Autosomal Recessive (1;4)
Autosomal Semidominant (2;8)
0.540 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
2 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
3 UTSW Ap3d1 0.941 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
4 UTSW Ap3b1 0.395 bullet_gray 13 94358960-94566317 bp (+) 94451087 Unknown (2;0) no linkage results 2021-11-22
Diantha La Vine
immune system
MCMV susceptibility
pigmentation
skin/coat/nails
G ⇒ T critical splice donor site 1 bp probably benign
5 UTSW Ap3b1 0.395 bella 13 94358960-94566317 bp (+) 94528257 Autosomal Recessive (1;4) 0.488 2021-11-22
Diantha La Vine
pigmentation
skin/coat/nails
A ⇒ T missense unknown
6 UTSW Ank1 0.755 Hema6 8 22974844-23150497 bp (+) 23097638 Unknown no linkage results 2021-11-17
Diantha La Vine
anemia
T ⇒ C intron probably benign
7 UTSW Alx4 0.513 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
8 UTSW Alms1 0.000 portly 6 85587531-85702753 bp (+) 85619712 Autosomal Recessive (3;14) 0.829 2021-11-17
Diantha La Vine
Body Weight - increased
Body Weight (Female) - increased
Body Weight (Male) - increased
Body Weight (Z-score) - increased
T ⇒ C missense probably benign 0.004
9 UTSW Alms1 0.000 gut_check 6 85587531-85702753 bp (+) 85620369 Autosomal Recessive (3;13) failed initial filter 2021-11-17
Diantha La Vine
Body Weight - increased
Body Weight (Female) - increased
Body Weight (Male) - increased
Body Weight (Z-score) - increased
A ⇒ T nonsense probably null
10 UTSW Alms1 0.000 fatty 6 85587531-85702753 bp (+) 85627934 Autosomal Dominant (1;1)
Autosomal Recessive (17;133), Autosomal Semidominant (1;1)
0.980 2021-11-17
Diantha La Vine
Body Weight - increased
Body Weight (Female) - increased
Body Weight (Male) - increased
Body Weight (Z-score) - increased
growth/size
NK cell response - decreased
NK killing - decreased
C ⇒ T nonsense probably null
11 UTSW Alms1 0.000 earthquake 6 85587531-85702753 bp (+) 85628735 Autosomal Recessive (33;229) 0.971 2021-11-17
Diantha La Vine
Body Weight - increased
Body Weight (Female) - increased
Body Weight (Male) - increased
Body Weight (Z-score) - increased
Bone: Pelvis Length (AI, residual) - decreased
Bone: Pelvis Length (AI, residual, male) - decreased
Bone: Tibia Length (AI, residual) - decreased
A ⇒ T nonsense probably null
12 UTSW Alms1 0.000 ares2 6 85587531-85702753 bp (+) 85677990 Autosomal Recessive (9;66)
Autosomal Semidominant (2;9)
0.488 2021-11-16
Diantha La Vine
Body Weight - increased
Body Weight (Female) - increased
Body Weight (Male) - increased
Body Weight (Z-score) - increased
resistance to B10-F16 melanoma - decreased
C ⇒ T nonsense probably null
13 UTSW Alms1 0.000 ares 6 85587531-85702753 bp (+) 85621275 Autosomal Recessive (2;10)
Autosomal Semidominant (1;4)
0.970 2021-11-16
Diantha La Vine
Body Weight - increased
Body Weight (Female) - increased
Body Weight (Male) - increased
Body Weight (Z-score) - increased
growth/size
C ⇒ T nonsense probably null
14 UTSW Aicda 0.000 bellezza 6 122553801-122564180 bp (+) 122561185 Autosomal Dominant (2;8)
Autosomal Recessive (8;44), Autosomal Semidominant (1;9)
0.808 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
15 UTSW Adra2a 0.000 splenda2 19 54045182-54048982 bp (+) 54046639 Autosomal Recessive (4;19)
Autosomal Semidominant (1;4)
0.836 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
16 UTSW Adra2a 0.000 splenda 19 54045182-54048982 bp (+) 54046495 Autosomal Recessive (7;37)
Autosomal Semidominant (2;11)
0.693 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
17 UTSW Adgrf5 0.000 sweetie 17 43360451-43459557 bp (+) 43450983 Autosomal Recessive (1;5) 0.034 2021-11-10
Diantha La Vine
30 min GTT hyperglycemic
A ⇒ T missense probably damaging 0.957
18 UTSW Adgre1 0.158 Scallion 17 57358686-57483529 bp (+) 57401977 Autosomal Semidominant (1;10) 0.316 2021-11-01
Diantha La Vine
FACS macrophages - decreased
A ⇒ G missense possibly damaging 0.899
19 UTSW Adgre1 0.158 Onion 17 57358686-57483529 bp (+) 57402841 Unknown no linkage results 2021-11-01
Diantha La Vine
FACS macrophages - decreased
T ⇒ A nonsense probably null
20 UTSW Adgre1 0.158 lomax 17 57358686-57483529 bp (+) 57402811 Autosomal Recessive (1;7) 0.438 2021-11-01
Diantha La Vine
FACS macrophages - decreased
A ⇒ G missense unknown
21 UTSW Adgre1 0.158 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
22 UTSW Tlr9 0.089 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
23 UTSW Tlr9 0.089 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
24 UTSW Adamts20 0.110 whopper 15 94270163-94465418 bp (-) 94347810 Autosomal Recessive (1;6) 0.174 2021-10-21
Diantha La Vine
pigmentation
skin/coat/nails
C ⇒ A missense probably damaging 1.000
25 UTSW Adamts20 0.110 wash 15 94270163-94465418 bp (-) 94347670 Autosomal Recessive (1;7) 0.482 2021-10-21
Diantha La Vine
pigmentation
skin/coat/nails
C ⇒ A nonsense probably null
26 UTSW Adamts20 0.110 splotch2 15 94270163-94465418 bp (-) 94335561 Unknown no linkage results 2021-10-21
Diantha La Vine
pigmentation
skin/coat/nails
A ⇒ T intron 8 bp probably benign
27 UTSW Adamts20 0.110 poliwag 15 94270163-94465418 bp (-) 94394622 Unknown no linkage result 2021-10-21
Diantha La Vine
A ⇒ T nonsense probably null
28 UTSW Adamts20 0.110 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
29 UTSW Adamts20 0.110 panda 15 94270163-94465418 bp (-) 94326699 Unknown no linkage results 2021-10-21
Diantha La Vine
pigmentation
skin/coat/nails
G ⇒ T intron probably benign
30 UTSW Adamts20 0.110 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
31 UTSW Adamts20 0.110 nidoking 15 94270163-94465418 bp (-) 94403445 Autosomal Recessive (1;12) 0.535 2021-10-21
Diantha La Vine
pigmentation
skin/coat/nails
C ⇒ T missense probably damaging 0.999
32 UTSW Adamts20 0.110 jack_white 15 94270163-94465418 bp (-) Unknown no linkage results 2021-10-19
Diantha La Vine
pigmentation
skin/coat/nails
unclassified
33 UTSW Adamts20 0.110 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
34 UTSW Adam17 0.938 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
35 UTSW a 0.178 killer_whale 2 154791402-155051012 bp (+) Unknown no linkage results 2021-10-06
Diantha La Vine
pigmentation
skin/coat/nails
unclassified
36 UTSW a 0.178 garfield 2 154791402-155051012 bp (+) Unknown no linkage results 2021-10-06
Diantha La Vine
pigmentation
skin/coat/nails
unclassified
37 UTSW a 0.178 yellowbelly 2 154791402-155051012 bp (+) Unknown no linkage results 2021-10-06
Diantha La Vine
pigmentation
skin/coat/nails
unclassified
38 UTSW Ctsl 1.000 patch 13 64359337-64370890 bp (-) 64366623 Autosomal Recessive (13;265)
Autosomal Semidominant (1;5)
0.975 2021-09-24
External Program
FACS B1 cells - decreased
FACS B1a cells - decreased
FACS B1a cells in B1 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 - decreased
FACS CD44+ CD8 T cells - 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 CD8 T cells in CD8 T cells - decreased
FACS naive CD8 T cells in CD8 T cells - increased
FACS T cells - decreased
skin/coat/nails
T ⇒ A nonsense probably null
39 UTSW Tcf12 1.000 Poorly3 9 71842688-72111871 bp (-) 72015636 Autosomal Recessive (2;17)
Autosomal Semidominant (15;83)
0.975 2021-04-23
External Program
FACS B:T cells - decreased
FACS B1 cells - decreased
FACS B220 MFI - increased
FACS CD4:CD8 - decreased
FACS CD4+ T cells in CD3+ T cells - decreased
FACS CD44+ CD8 MFI - increased
FACS CD44+ 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 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 T cells - increased
T-independent B cell response defect- decreased TNP-specific IgM to TNP-Ficoll immunization
A ⇒ G critical splice donor site 2 bp probably null
40 UTSW Bcl10 0.000 Derek 3 145922804-145934356 bp (+) 145930587 Autosomal Recessive (14;151)
Autosomal Semidominant (2;11)
0.917 2021-03-22
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
41 UTSW Gys2 0.206 candy_corn 6 142422613-142473109 bp (-) 142456333 Autosomal Recessive (2;13) 0.038 2021-03-22
External Program
30 min GTT hyperoglycemic (female)
T ⇒ C missense probably benign 0.001
42 UTSW Irf1 0.000 Endeka2 11 53770014-53778374 bp (+) 53771322 Autosomal Recessive (4;52)
Autosomal Semidominant (15;69)
0.808 2021-02-25
External Program
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
43 UTSW Atm 0.926 Tropo 9 53439149-53536740 bp (-) 53531648 Unknown (2;0) no linkage result 2020-12-09
External Program
A ⇒ G missense probably damaging 1.000
44 UTSW Stk4 0.000 Sergeant 2 164070322-164155524 bp (+) 164099712 Autosomal Recessive (2;10)
Autosomal Semidominant (2;8)
0.926 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
45 UTSW Rac2 0.000 Potter 15 78559167-78572783 bp (-) 78570743 Autosomal Recessive (3;15)
Autosomal Semidominant (2;11)
0.912 2020-07-29
External Program
FACS B cells - decreased
FACS B1a cells in B1 cells - decreased
FACS B1b cells in B1 cells - increased
FACS IgD+ B cell percentage - decreased
T-independent B cell response defect- decreased TNP-specific IgM to TNP-Ficoll immunization
G ⇒ T nonsense probably null
46 UTSW Pi4ka 1.000 Pia 16 17280351-17406314 bp (-) 17281044 Autosomal Recessive (3;18)
Autosomal Semidominant (3;12)
0.333 2020-07-29
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
47 UTSW Tap2 0.191 Palm 17 34203527-34216321 bp (+) 34215940 Autosomal Recessive (1;7)
Autosomal Semidominant (1;5)
0.477 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
48 UTSW Ebf1 0.881 Oregano 11 44617317-45008091 bp (+) 44869169 Autosomal Recessive (13;92)
Autosomal Semidominant (4;22)
0.923 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
49 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
50 UTSW Bcl3 0.000 Memorial 7 19808462-19822770 bp (-) 19812484 Autosomal Recessive (1;5)
Autosomal Semidominant (1;4)
0.380 2020-07-29
External Program
FACS central memory CD8 T cells in CD8 T cells - increased
T ⇒ A missense probably damaging 1.000
51 UTSW Ifngr1 0.000 Marigold 10 19591949-19610229 bp (+) 19601485 Unknown (1;0)
Autosomal Dominant (3;12), Autosomal Recessive (2;14)
0.303 2020-07-29
External Program
FACS IgD+ B cell percentage - increased
FACS IgM+ B cells - increased
FACS macrophages - decreased
TLR signaling defect: hyposensitivity to poly I:C + IFNg
TLR signaling defect: TNF production by macrophages
T ⇒ C critical splice donor site probably null
52 UTSW Pax5 1.000 Glacier 4 44524757-44710487 bp (-) 44679494 Autosomal Recessive (3;25)
Autosomal Semidominant (1;7)
0.906 2020-07-29
External Program
FACS B1 cells - increased
FACS B1a cells in B1 cells - decreased
FACS B1b cells in B1 cells - decreased
FACS CD8a+ DCs (gated in CD11c+ cells) - increased
T ⇒ A missense probably damaging 0.996
53 UTSW Tmprss6 0.070 Ekans 15 78439667-78468634 bp (-) 78459427 Autosomal Recessive (1;10)
Autosomal Semidominant (1;4)
0.349 2020-07-29
External Program
FACS T cells - decreased
skin/coat/nails
T ⇒ A splice site probably null
54 UTSW Prkdc 0.951 Daffy 16 15637866-15842235 bp (+) 15829697 Autosomal Recessive (1;5)
Autosomal Semidominant (1;4)
0.662 2020-07-29
External Program
FACS CD44+ CD4 MFI - increased
A ⇒ T missense possibly damaging 0.861
55 UTSW Tlr4 0.000 Cruyff 4 66827584-66930284 bp (+) 66840326 Autosomal Recessive (3;31)
Autosomal Semidominant (3;16)
0.943 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
56 UTSW Pik3r1 0.000 Astro_boy 13 101680563-101768217 bp (-) 101701732 Autosomal Recessive (2;12)
Autosomal Semidominant (1;4)
0.086 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
57 UTSW Dck 0.000 rosa 5 88764996-88783281 bp (+) 88772723 Autosomal Recessive (19;119) 0.980 2020-07-01
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
58 UTSW Inpp5d 0.911 styx 1 87620312-87720507 bp (+) 87669784 Unknown (1;0) no linkage results 2020-06-05
Thomas Gallagher
CTL killing - decreased
growth/size
hematopoietic system
homeostasis/metabolism
immune system
life span-post-weaning/aging
respiratory system
T ⇒ A critical splice donor site 2 bp probably benign
59 UTSW Inpp5d 0.911 sailing 1 87620312-87720507 bp (+) 87705964 Autosomal Dominant (2;10)
Autosomal Recessive (3;21)
0.874 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
60 UTSW Inpp5d 0.911 Orange 1 87620312-87720507 bp (+) 87697546 Autosomal Dominant (3;10)
Autosomal Semidominant (4;19)
0.917 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
FACS IgD+ B cell percentage - decreased
FACS IgM+ B cells - decreased
G ⇒ A critical splice donor site 1 bp probably null
61 UTSW Ikzf1 0.000 Herrscher 11 11685003-11772926 bp (+) 11768961 Autosomal Dominant (19;145) 0.979 2020-06-04
External Program
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 ⇒ T nonsense probably null
62 UTSW Inpp5d 0.911 pantone 1 87620312-87720507 bp (+) 87699675 Autosomal Recessive (70;565)
Autosomal Semidominant (4;27)
0.948 2020-05-29
Thomas Gallagher
Body Weight - decreased
Body Weight (Female) - decreased
Body Weight (Male) - decreased
Body Weight (Z-score) - 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
63 UTSW Inpp5d 0.911 americas 1 87620312-87720507 bp (+) 87715142 Autosomal Recessive (5;56) 0.606 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 LPS
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
64 UTSW Wdr41 0.000 gogi 13 94976344-95023314 bp (+) 95015217 Autosomal Recessive (12;77)
Autosomal Semidominant (3;16)
0.960 2020-05-12
External Program
DSS: sensitive day 10
DSS: sensitive day 7
FACS B1a cells - increased
FACS B220 MFI - increased
FACS CD44+ CD4 MFI - increased
FACS CD44+ CD4 T cells - increased
FACS CD44+ CD8 MFI - increased
FACS CD44+ T MFI - increased
FACS effector memory CD4 T cells in CD4 T cells - increased
FACS effector memory CD8 T cells in CD8 T cells - increased
FACS naive CD4 T cells in CD4 T cells - decreased
FACS naive CD8 T cells in CD8 T cells - decreased
FACS NK1.1+ T cells - increased
Nlrc4 inflammasome: low response
NLRP3 inflammasome: low response
TLR signaling defect: hypersensitivity to CpG + IFNg
TLR signaling defect: hypersensitivity to LPS
TLR signaling defect: hypersensitivity to PAM3CSK4
TLR signaling defect: hypersensitivity to poly I:C
TLR signaling defect: hypersensitivity to R848
T ⇒ A critical splice donor site probably null
65 UTSW Pik3r1 0.000 anubis 13 101680563-101768217 bp (-) 101702776 Unknown (3;0)
Autosomal Recessive (9;54), Autosomal Semidominant (1;4)
0.897 2020-02-14
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
OVA-specific IgE - increased
A ⇒ T nonsense probably null
66 UTSW Smcr8 0.000 patriot 11 60777524-60788287 bp (+) 60778032 Autosomal Recessive (7;38)
Autosomal Semidominant (1;6)
0.957 2020-02-04
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
TLR signaling defect: hypersensitivity to R848
TLR signaling defect: TNF production by macrophages
total IgE level - increased
T ⇒ C missense probably damaging 1.000
67 UTSW Lrba 0.000 oscar 3 86224680-86782692 bp (+) 86350304 Autosomal Recessive (2;15) 0.904 2020-02-04
External Program
Body Weight (Female) - decreased
DSS: sensitive day 10
DSS: sensitive day 7
FACS B1b cells in B1 cells - increased
FACS B220 MFI - increased
FACS CD11c+ DCs - increased
FACS effector memory CD4 T cells in CD4 T cells - increased
C ⇒ T nonsense probably null
68 UTSW Jak3 0.569 thistle 8 71676296-71690575 bp (+) 71685383 Unknown (2;0)
Autosomal Recessive (31;312), Autosomal Semidominant (1;4)
0.973 2020-01-15
Eva Marie Y. Moresco
Body Weight (DSS Female) - decreased
FACS B cells - decreased
FACS B:T cells - decreased
FACS B1 cells - decreased
FACS CD11b+ DCs (gated in CD11c+ cells) - decreased
FACS CD11c+ DCs - increased
FACS CD4:CD8 - increased
FACS CD4+ T cells - decreased
FACS CD44+ CD4 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 CD8a+ DCs (gated in CD11c+ 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 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
IgE response to a Cysteine Protease (Papain) - decreased
IgG1 response to a Cysteine Protease (Papain) - decreased
impaired response to dsDNA- type I IFN production by macrophages
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-independent B cell response defect- decreased TNP-specific IgM to TNP-Ficoll immunization
total IgE level - decreased
A ⇒ T critical splice acceptor site probably null
69 UTSW Syk 1.000 Sisyphus 13 52583173-52648792 bp (+) 52640790 Unknown (4;0)
Autosomal Dominant (2;10)
0.391 2020-01-15
Eva Marie Y. Moresco
FACS B cells - increased
IgE response to a Cysteine Protease (Papain) - increased
NALP3 inflammasome signaling defect
NLRP3 inflammasome: high response
A ⇒ G missense probably damaging 1.000
70 UTSW Lig4 1.000 posey 8 9969049-9977686 bp (-) 9972955 Autosomal Recessive (16;134)
Autosomal Semidominant (2;8)
0.976 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
71 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
72 UTSW Pparg 1.000 Energy 6 115360951-115490399 bp (+) 115451044 Unknown (4;0)
Autosomal Dominant (5;20)
0.308 2019-11-06
Bruce Beutler
Body Weight - decreased
Body Weight (DSS) - decreased
Body Weight (DSS, z-score) - decreased
Body Weight (Z-score) - decreased
growth/size
G ⇒ T missense probably damaging 1.000
73 UTSW Elmo1 0.000 Debil 13 20090596-20608353 bp (+) 20373161 Autosomal Dominant (2;10)
Autosomal Recessive (1;7), Autosomal Semidominant (3;11)
0.829 2019-10-29
Diantha La Vine
FACS B220 MFI - decreased
FACS CD4:CD8 - decreased
FACS CD8+ T cells in CD3+ T cells - increased
FACS effector memory CD4 T cells in CD4 T cells - increased
FACS NK cells - decreased
T ⇒ C missense probably damaging 1.000
74 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
75 UTSW Klhl6 0.085 cerulean 16 19946496-19983037 bp (-) 19957218 Autosomal Recessive (8;130)
Autosomal Semidominant (6;41)
0.900 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
76 UTSW Il2rb 0.078 Whistles 15 78479256-78495271 bp (-) 78481936 Autosomal Dominant (1;3)
Autosomal Recessive (2;8), Autosomal Semidominant (5;21)
0.638 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
77 UTSW Myo15 0.000 Typhoon 11 60469339-60528369 bp (+) 60487425 Autosomal Dominant (1;7)
Autosomal Recessive (1;5)
0.156 2019-10-23
Anne Murray
behavior/neurological
NALP3 inflammasome signaling defect
NLRP3 inflammasome: low response
G ⇒ A critical splice donor site probably null
78 UTSW Pcdh15 0.000 Tortilla 10 73099342-74649737 bp (+) 74379417 Autosomal Recessive (2;10)
Autosomal Semidominant (2;9)
0.454 2019-10-23
Diantha La Vine
behavior/neurological
FACS CD44+ CD8 T cells - increased
FACS CD44+ T cells - increased
OVA-specific IgE after 2nd OVA/Alum - increased
G ⇒ T splice site probably null
79 UTSW Prkcd 0.502 Rigged 14 30595354-30626210 bp (-) 30610301 Autosomal Recessive (1;5)
Autosomal Semidominant (2;9)
0.891 2019-10-23
Diantha La Vine
DSS: sensitive day 10
DSS: sensitive day 7
FACS NK cells - decreased
A ⇒ G start codon destroyed probably null 0.988
80 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
81 UTSW Prkce 0.000 Pinnacles 17 86167785-86657919 bp (+) 86476851 Autosomal Semidominant (1;5) 0.034 2019-10-23
Anne Murray
FACS NK cells - decreased
C ⇒ T missense probably damaging 0.997
82 UTSW Dst 0.346 Phelps 1 33908225-34308661 bp (+) 34223795 Autosomal Semidominant (1;1) failed initial filter 2019-10-23
Anne Murray
behavior/neurological
FACS B1a cells in B1 cells - increased
FACS CD11c+ DCs - increased
growth/size
T ⇒ A splice site 9 bp probably null
83 UTSW Zbtb1 0.766 Old_friend 12 76370266-76396950 bp (+) 76385891 Autosomal Recessive (1;6)
Autosomal Semidominant (2;10)
0.099 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
84 UTSW Ptpn6 0.540 Naphthalene 6 124720707-124738714 bp (-) 124721789 Autosomal Dominant (1;5)
Autosomal Recessive (1;4), Autosomal Semidominant (1;5)
0.278 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
85 UTSW Trpc1 0.122 Magnified 9 95705082-95750375 bp (-) 95726437 Autosomal Recessive (6;28)
Autosomal Semidominant (6;34)
0.550 2019-10-23
Diantha La Vine
Body Weight - increased
Body Weight (Female) - increased
Body Weight (Male) - increased
Body Weight (Z-score) - increased
Bone: Femur Length (AI, residual, female) - increased
T ⇒ C missense probably damaging 1.000
86 UTSW Nlrc4 0.141 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
87 UTSW Rel 0.000 Horus 11 23736847-23770970 bp (-) 23753215 Autosomal Recessive (5;30)
Autosomal Semidominant (5;25)
0.956 2019-10-23
Diantha La Vine
FACS B1 cells - decreased
FACS CD4+ T cells - increased
FACS CD44+ T cells - increased
FACS CD44+ T MFI - increased
FACS naive CD8 T cells in CD8 T cells - decreased
FACS T cells - 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-independent B cell response defect- decreased TNP-specific IgM to TNP-Ficoll immunization
total IgE level - decreased
A ⇒ C critical splice donor site probably null
88 UTSW Kitl 0.322 Gregory 10 100015630-100100416 bp (+) 100076906 Unknown (1;0)
Autosomal Dominant (4;11)
failed initial filter 2019-10-23
Anne Murray
pigmentation
skin/coat/nails
G ⇒ A critical splice donor site probably null
89 UTSW Rab38 0.458 Fenrir 7 88430273-88491572 bp (+) 88450541 Autosomal Semidominant (1;5) 0.548 2019-10-23
Anne Murray
pigmentation
skin/coat/nails
T ⇒ A missense probably damaging 0.995
90 UTSW Hps3 0.160 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
91 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
92 UTSW Cd8a 0.066 Alfalfa 6 71373427-71379173 bp (+) 71373728 Autosomal Dominant (1;4)
Autosomal Recessive (7;49), Autosomal Semidominant (8;72)
0.916 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 effector 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 central memory CD8 T cells in CD8 T cells - increased
post-MCMV FACS naive CD8 T cells in CD8 T cells - decreased
T ⇒ A missense probably damaging 0.989
93 UTSW Lyst 0.375 50-cal 13 13590397-13778803 bp (+) 13708212 Autosomal Recessive (6;68) 0.633 2019-10-14
Diantha La Vine
FACS CD8a+ DCs (gated in CD11c+ cells) - increased
FACS pDCs - increased
LPS-induced Necroptosis - decreased
Macrophage necroptosis: low
MCMV susceptibility
pigmentation
skin/coat/nails
T ⇒ A critical splice donor site 2 bp probably null
94 UTSW Prkcb 0.000 tigris 7 122288751-122634402 bp (+) 122424977 Autosomal Recessive (2;9)
Autosomal Semidominant (1;4)
0.954 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
95 UTSW Ptpn6 0.540 farfalla_notturna 6 124720707-124738714 bp (-) 124732435 Autosomal Recessive (17;126) 0.957 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
96 UTSW Zeb1 0.922 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
97 UTSW Slc9a8 0.000 costello 2 167421712-167477000 bp (+) 167451296 Autosomal Recessive (1;5) 0.429 2019-09-04
External Program
DSS: sensitive day 7
T ⇒ A missense probably damaging 1.000
98 UTSW Hps5 0.140 Titan 7 46760466-46796064 bp (-) 46783469 Autosomal Dominant (2;19)
Autosomal Recessive (2;6)
0.240 2019-09-04
Diantha La Vine
dsDNA induced type I IFN production - increased
FACS CD11c+ DCs - decreased
FACS IgM MFI - decreased
impaired response to dsDNA- type I IFN production by macrophages
pigmentation
skin/coat/nails
A ⇒ G critical splice donor site 2 bp probably null
99 UTSW Jak3 0.569 mount_tai 8 71676296-71690575 bp (+) 71683377 Autosomal Recessive (28;212)
Autosomal Semidominant (3;15)
0.975 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
100 UTSW Tnfsf13b 0.097 Frozen 8 10006467-10039072 bp (+) 10031661 Autosomal Recessive (6;46)
Autosomal Semidominant (8;93)
0.800 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
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