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 Tcf12 1.000 Poorly3 9 71842688-72111871 bp (-) 72015636 Autosomal Recessive (2;17)
Autosomal Semidominant (15;83)
0.989 2021-03-22
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
2 UTSW
has photohas video
Ctsl 1.000 patch 13 64359337-64370890 bp (-) 64366623 Autosomal Recessive (13;265)
Autosomal Semidominant (1;5)
0.983 2021-03-22
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
3 UTSW Bcl10 0.000 Derek 3 145922804-145934356 bp (+) 145930587 Autosomal Dominant (1;4)
Autosomal Recessive (14;151), Autosomal Semidominant (2;11)
0.901 2021-03-22
External Program
DSS: sensitive day 7
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
4 UTSW Gys2 0.263 candy_corn 6 142422613-142473109 bp (-) 142456333 Autosomal Recessive (2;13) 0.035 2021-03-22
External Program
30 min GTT hyperoglycemic (female)
T ⇒ C missense probably benign 0.001
5 UTSW Irf1 0.000 Endeka2 11 53770014-53778374 bp (+) 53771322 Autosomal Recessive (5;56)
Autosomal Semidominant (15;69)
0.883 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
6 UTSW Atm 0.893 Tropo 9 53439149-53536740 bp (-) 53531648 Unknown (2;0) no linkage result 2020-12-09
External Program
A ⇒ G missense probably damaging 1.000
7 UTSW Stk4 0.000 Sergeant 2 164070322-164155524 bp (+) 164099712 Autosomal Recessive (2;10)
Autosomal Semidominant (2;8)
0.893 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
8 UTSW Rac2 0.000 Potter 15 78559167-78572783 bp (-) 78570743 Autosomal Recessive (4;19)
Autosomal Semidominant (2;11)
0.880 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
FACS IgM+ B cells - decreased
T-independent B cell response defect- decreased TNP-specific IgM to TNP-Ficoll immunization
G ⇒ T nonsense probably null
9 UTSW Pi4ka 1.000 Pia 16 17280351-17406314 bp (-) 17281044 Autosomal Recessive (3;18)
Autosomal Semidominant (3;12)
0.424 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
10 UTSW Tap2 0.173 Palm 17 34203527-34216321 bp (+) 34215940 Autosomal Recessive (1;7)
Autosomal Semidominant (1;5)
0.469 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
11 UTSW Ebf1 0.904 Oregano 11 44617317-45008091 bp (+) 44869169 Autosomal Recessive (15;100)
Autosomal Semidominant (4;22)
0.963 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
12 UTSW
has photo
Mbtps1 1.000 Muskrat 8 119508156-119558735 bp (-) 119538137 Autosomal Dominant (2;2)
Autosomal Recessive (2;9)
failed initial filter 2020-07-29
External Program
pigmentation
skin/coat/nails
G ⇒ A missense probably damaging 1.000
13 UTSW Bcl3 0.000 Memorial 7 19808462-19822770 bp (-) 19812484 Autosomal Recessive (1;5)
Autosomal Semidominant (1;4)
0.521 2020-07-29
External Program
FACS central memory CD8 T cells in CD8 T cells - increased
T ⇒ A missense probably damaging 1.000
14 UTSW Ifngr1 0.000 Marigold 10 19591949-19610229 bp (+) 19601485 Unknown (1;0)
Autosomal Dominant (3;12), Autosomal Recessive (2;14)
0.503 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
15 UTSW Pax5 1.000 Glacier 4 44524757-44710487 bp (-) 44679494 Autosomal Recessive (3;25)
Autosomal Semidominant (1;7)
0.916 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
16 UTSW
has photo
Tmprss6 0.070 Ekans 15 78439667-78468634 bp (-) 78459427 Autosomal Recessive (1;10)
Autosomal Semidominant (1;4)
0.340 2020-07-29
External Program
FACS T cells - decreased
skin/coat/nails
T ⇒ A splice site probably null
17 UTSW Prkdc 0.947 Daffy 16 15637866-15842235 bp (+) 15829697 Autosomal Recessive (2;9)
Autosomal Semidominant (1;4)
0.683 2020-07-29
External Program
Body Weight (Female) - increased
FACS CD44+ CD4 MFI - increased
A ⇒ T missense possibly damaging 0.861
18 UTSW Tlr4 0.000 Cruyff 4 66827584-66930284 bp (+) 66840326 Autosomal Recessive (3;31)
Autosomal Semidominant (3;16)
0.947 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
19 UTSW Pik3r1 0.000 Astro_boy 13 101680563-101768217 bp (-) 101701732 Autosomal Recessive (2;12)
Autosomal Semidominant (1;4)
0.136 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
20 UTSW Dck 0.000 rosa 5 88764996-88783281 bp (+) 88772723 Autosomal Recessive (19;119) 0.990 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
21 UTSW Inpp5d 0.887 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
22 UTSW Inpp5d 0.887 sailing 1 87620312-87720507 bp (+) 87705964 Autosomal Dominant (2;10)
Autosomal Recessive (3;21)
0.941 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
23 UTSW Inpp5d 0.887 Orange 1 87620312-87720507 bp (+) 87697546 Autosomal Dominant (3;10)
Autosomal Semidominant (2;11)
0.902 2020-06-05
Thomas Gallagher
FACS B cells - decreased
FACS B:T cells - decreased
FACS B1a cells - increased
FACS B2 cells - decreased
FACS CD11c+ DCs - increased
G ⇒ A critical splice donor site 1 bp probably null
24 UTSW Ikzf1 0.000 Herrscher 11 11685003-11772926 bp (+) 11768961 Autosomal Dominant (20;151) 0.984 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
25 UTSW Inpp5d 0.887 pantone 1 87620312-87720507 bp (+) 87699675 Autosomal Recessive (57;442)
Autosomal Semidominant (3;25)
0.961 2020-05-29
Thomas Gallagher
Body Weight - decreased
Body Weight (Female) - decreased
Body Weight (Male) - decreased
Body Weight (Z-score) - decreased
FACS B cells - decreased
FACS B:T cells - decreased
FACS B1 cells - increased
FACS 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
26 UTSW Inpp5d 0.887 americas 1 87620312-87720507 bp (+) 87715142 Autosomal Recessive (1;8) 0.350 2020-05-29
Thomas Gallagher
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
27 UTSW Wdr41 0.000 gogi 13 94976344-95023314 bp (+) 95015217 Autosomal Recessive (13;82)
Autosomal Semidominant (3;16)
0.972 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
28 UTSW Pik3r1 0.000 anubis 13 101680563-101768217 bp (-) 101702776 Unknown (3;0)
Autosomal Recessive (9;54), Autosomal Semidominant (1;4)
0.989 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
29 UTSW Smcr8 0.000 patriot 11 60777524-60788287 bp (+) 60778032 Autosomal Recessive (6;34)
Autosomal Semidominant (1;6)
0.978 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
T ⇒ C missense probably damaging 1.000
30 UTSW Lrba 0.000 oscar 3 86224680-86782692 bp (+) 86350304 Autosomal Recessive (2;15) 0.964 2020-02-04
External Program
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
31 UTSW Jak3 0.721 thistle 8 71676296-71690575 bp (+) 71685383 Unknown (2;0)
Autosomal Recessive (31;312), Autosomal Semidominant (1;4)
0.971 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
32 UTSW Syk 1.000 Sisyphus 13 52583173-52648792 bp (+) 52640790 Unknown (4;0)
Autosomal Dominant (1;6)
0.243 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
33 UTSW Lig4 1.000 posey 8 9969049-9977686 bp (-) 9972955 Autosomal Recessive (16;134)
Autosomal Semidominant (2;8)
0.987 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
34 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
35 UTSW Pparg 1.000 Energy 6 115360951-115490399 bp (+) 115451044 Unknown (4;0)
Autosomal Dominant (5;20)
0.273 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
36 UTSW Elmo1 0.000 Debil 13 20090596-20608353 bp (+) 20373161 Autosomal Dominant (2;10)
Autosomal Recessive (1;7), Autosomal Semidominant (3;11)
0.823 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
37 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
38 UTSW Klhl6 0.094 cerulean 16 19946496-19983037 bp (-) 19957218 Autosomal Recessive (8;130)
Autosomal Semidominant (6;41)
0.902 2019-10-25
Bruce Beutler
FACS B cells - decreased
FACS B:T cells - decreased
FACS B1 cells - increased
FACS B220 MFI - decreased
FACS CD4:CD8 - increased
FACS CD4+ T cells - increased
FACS CD4+ T cells in CD3+ T cells - increased
FACS CD44+ CD4 MFI - decreased
FACS CD8+ T cells - increased
FACS CD8+ T cells in CD3+ T cells - decreased
FACS central memory CD4 T cells in CD4 T cells - decreased
FACS IgM+ B cells - decreased
FACS T cells - increased
total IgE level - increased
G ⇒ A nonsense probably null
39 UTSW Il2rb 0.094 Whistles 15 78479256-78495271 bp (-) 78481936 Autosomal Dominant (1;3)
Autosomal Recessive (2;8), Autosomal Semidominant (5;21)
0.547 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
40 UTSW
has video
Myo15 0.000 Typhoon 11 60469339-60528369 bp (+) 60487425 Autosomal Dominant (1;7)
Autosomal Recessive (1;5)
0.132 2019-10-23
Anne Murray
behavior/neurological
NALP3 inflammasome signaling defect
NLRP3 inflammasome: low response
G ⇒ A critical splice donor site probably null
41 UTSW
has video
Pcdh15 0.000 Tortilla 10 73099342-74649737 bp (+) 74379417 Autosomal Recessive (1;6)
Autosomal Semidominant (2;9)
0.317 2019-10-23
Diantha La Vine
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
42 UTSW Prkcd 0.598 Rigged 14 30595354-30626210 bp (-) 30610301 Autosomal Recessive (1;5)
Autosomal Semidominant (2;9)
0.852 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
43 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
44 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
45 UTSW Dst 0.322 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
46 UTSW Zbtb1 0.742 Old_friend 12 76370266-76396950 bp (+) 76385891 Autosomal Recessive (1;6)
Autosomal Semidominant (2;10)
0.070 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
47 UTSW Ptpn6 0.555 Naphthalene 6 124720707-124738714 bp (-) 124721789 Autosomal Dominant (1;5)
Autosomal Recessive (1;4), Autosomal Semidominant (1;5)
0.210 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
48 UTSW Trpc1 0.151 Magnified 9 95705082-95750375 bp (-) 95726437 Autosomal Recessive (6;28)
Autosomal Semidominant (5;29)
0.474 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
49 UTSW Nlrc4 0.131 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
50 UTSW Rel 0.000 Horus 11 23736847-23770970 bp (-) 23753215 Autosomal Recessive (7;44)
Autosomal Semidominant (5;25)
0.962 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 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 - 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
51 UTSW
has photo
Kitl 0.362 Gregory 10 100015630-100100416 bp (+) 100076906 Unknown (2;0)
Autosomal Dominant (3;8)
failed initial filter 2019-10-23
Anne Murray
pigmentation
skin/coat/nails
G ⇒ A critical splice donor site probably null
52 UTSW Rab38 0.639 Fenrir 7 88430273-88491572 bp (+) 88450541 Autosomal Semidominant (1;5) 0.547 2019-10-23
Anne Murray
pigmentation
skin/coat/nails
T ⇒ A missense probably damaging 0.995
53 UTSW
has photo
Hps3 0.172 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
54 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
55 UTSW Cd8a 0.062 Alfalfa 6 71373427-71379173 bp (+) 71373728 Autosomal Dominant (1;4)
Autosomal Recessive (7;49), Autosomal Semidominant (7;68)
0.857 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 naive CD8 T cells in CD8 T cells - decreased
T ⇒ A missense probably damaging 0.989
56 UTSW
has photo
Lyst 0.299 50-cal 13 13590397-13778803 bp (+) 13708212 Autosomal Recessive (6;68) 0.572 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
57 UTSW Prkcb 0.000 tigris 7 122288751-122634402 bp (+) 122424977 Autosomal Recessive (2;9)
Autosomal Semidominant (1;4)
0.932 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
58 UTSW Ptpn6 0.555 farfalla_notturna 6 124720707-124738714 bp (-) 124732435 Autosomal Recessive (17;126) 0.964 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
59 UTSW Zeb1 0.919 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
60 UTSW Slc9a8 0.000 costello 2 167421712-167477000 bp (+) 167451296 Autosomal Recessive (1;5) 0.389 2019-09-04
External Program
DSS: sensitive day 7
T ⇒ A missense probably damaging 1.000
61 UTSW
has photo
Hps5 0.116 Titan 7 46760466-46796064 bp (-) 46783469 Autosomal Dominant (2;19)
Autosomal Recessive (2;6)
0.199 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
62 UTSW Jak3 0.721 mount_tai 8 71676296-71690575 bp (+) 71683377 Autosomal Recessive (28;212)
Autosomal Semidominant (3;15)
0.970 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
63 UTSW Tnfsf13b 0.096 Frozen 8 10006467-10039072 bp (+) 10031661 Autosomal Recessive (6;46)
Autosomal Semidominant (8;93)
0.837 2019-09-04
Diantha La Vine
FACS B cells - decreased
FACS B:T cells - decreased
FACS B1a cells - increased
FACS CD11c+ DCs - increased
FACS CD8+ T cells - increased
FACS IgD MFI - decreased
FACS IgD+ B cell percentage - decreased
FACS IgM MFI - increased
FACS IgM+ B cells - decreased
FACS macrophages - increased
FACS neutrophils - increased
FACS T cells - increased
T-dependent humoral response defect- decreased antibody response to rSFV
T-independent B cell response defect- decreased TNP-specific IgM to TNP-Ficoll immunization
G ⇒ A splice site 5 bp probably null
64 UTSW Jak3 0.721 citron 8 71676296-71690575 bp (+) 71686976 Autosomal Recessive (2;10)
Autosomal Semidominant (1;5)
0.727 2019-09-04
Diantha La Vine
cellular phenotype
FACS B:T cells - increased
FACS B1b cells - decreased
FACS CD8+ T cells - decreased
hematopoietic system
C ⇒ T splice site 4 bp probably benign
65 UTSW Insr 0.839 gummi_bear 8 3122061-3279617 bp (-) 3161770 Autosomal Recessive (2;10)
Autosomal Semidominant (1;2)
0.818 2019-09-04
Diantha La Vine
DSS: sensitive day 10
DSS: sensitive day 7
FACS neutrophils - increased
A ⇒ G missense probably damaging 1.000
66 UTSW Rac2 0.000 bingo 15 78559167-78572783 bp (-) 78564968 Autosomal Recessive (1;6) 0.920 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
67 UTSW
has photo
Tshr 0.336 freckle 12 91384563-91549808 bp (+) 91538226 Unknown (1;0)
Autosomal Recessive (2;12)
0.640 2019-09-04
Bruce Beutler
125-03 Response - increased
Body Weight (Z-score) - decreased
endocrine/exocrine gland
growth/size
C ⇒ A nonsense probably null
68 UTSW Arnt2 1.000 Arnold2 7 84246278-84410176 bp (-) 84347530 Autosomal Dominant (3;4)
Autosomal Semidominant (3;17)
0.985 2019-09-04
External Program
Body Weight - increased
Body Weight (Female) - increased
Body Weight (Male) - increased
Body Weight (Z-score) - increased
DSS: sensitive day 10
growth/size
NALP3 inflammasome signaling defect
NK cell response - decreased
NK killing - decreased
NLRP3 inflammasome: high response
G ⇒ A missense probably damaging 1.000
69 UTSW Tlr4 0.000 Lops 4 66827584-66930284 bp (+) 66833880 Autosomal Semidominant (3;15) 0.969 2019-09-04
Katherine Timer
FACS B220 MFI - decreased
NLRP3 inflammasome: low response
TLR signaling defect: hyposensitivity to LPS
TLR signaling defect: TNF production by macrophages
T ⇒ A splice site 14 bp probably null
70 UTSW Nlrp3 0.101 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
71 UTSW
has video
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
72 UTSW
has video
Scn8a 0.804 nymph 15 100869858-101045938 bp (+) 101035646 Unknown (1;0)
Autosomal Recessive (1;5)
0.235 2019-09-04
Anne Murray
behavior/neurological
Body Weight - decreased
growth/size
A ⇒ G missense probably damaging 1.000
73 UTSW Adgrf5 0.000 sweetie 17 43360451-43459557 bp (+) 43450983 Autosomal Recessive (1;5) 0.049 2019-09-04
Diantha La Vine
30 min GTT hyperglycemic
A ⇒ T missense probably damaging 0.957
74 UTSW Apbb2 0.000 bund 5 66298703-66618784 bp (-) 66400255 Autosomal Recessive (1;3) failed initial filter 2019-09-04
External Program
30 min GTT hyperglycemic
30 min GTT hyperglycemic (male)
T ⇒ A missense probably damaging 0.996
75 UTSW Sell 0.000 dim_sum 1 164061982-164084181 bp (+) 164066201 Autosomal Dominant (1;4)
Autosomal Recessive (6;41)
0.976 2019-09-04
Peter Jurek
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 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-dependent humoral response defect- decreased antibody response to OVA+ alum immunization
T-dependent humoral response defect- decreased antibody response to rSFV
T ⇒ A splice site 9 bp probably null
76 UTSW
has video
Slc26a4 0.000 cul-de-sac 12 31519827-31559969 bp (-) 31525568 Autosomal Recessive (2;9) 0.666 2019-09-04
Emre Turer
behavior/neurological
DSS: sensitive day 10
hearing/vestibular/ear
A ⇒ T nonsense probably null
77 UTSW
has photo
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
78 UTSW Sppl2a 0.081 abra 2 126890391-126933235 bp (-) 126923594 Autosomal Recessive (3;13) 0.886 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
79 UTSW Nr3c2 1.000 naughty 8 76899442-77245012 bp (+) 76908668 Autosomal Recessive (1;5) 0.094 2019-09-04
Bruce Beutler
Body Weight - decreased
growth/size
A ⇒ G splice site probably null
80 UTSW
has video
Dst 0.322 gobble 1 33908225-34308661 bp (+) 34165155 Autosomal Dominant (1;1)
Autosomal Recessive (6;23)
0.446 2019-09-04
Anne Murray
behavior/neurological
Body Weight - decreased
Body Weight (Z-score) - decreased
DSS: sensitive day 7
FACS B1a cells in B1 cells - increased
FACS CD11c+ DCs - increased
growth/size
TLR signaling defect: hypersensitivity to CpG + IFNg
T ⇒ C critical splice donor site 2 bp probably null
81 UTSW Nlrp3 0.101 Park4 11 59541568-59566956 bp (+) 59549531 Autosomal Dominant (1;9)
Autosomal Semidominant (1;6)
0.868 2019-09-04
Diantha La Vine
NALP3 inflammasome signaling defect
NLRP3 inflammasome: low response
A ⇒ G missense probably benign 0.190
82 UTSW
has photo
Tyr 0.197 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
83 UTSW
has photohas video
Grm1 0.201 donald 10 10686059-11082356 bp (-) 10741508 Autosomal Recessive (1;2) failed initial filter 2019-09-04
Diantha La Vine
behavior/neurological
growth/size
life span-post-weaning/aging
skeleton phenotype
G ⇒ T nonsense probably null
84 UTSW
has photo
Adamts20 0.164 pikachu 15 94270163-94465418 bp (-) 94345990 Autosomal Recessive (1;1) failed initial filter 2019-09-04
Diantha La Vine
pigmentation
skin/coat/nails
A ⇒ T missense probably damaging 1.000
85 UTSW
has photo
Lyst 0.299 charzard 13 13590397-13778803 bp (+) 13647083 Autosomal Recessive (1;1) failed initial filter 2019-09-04
Diantha La Vine
pigmentation
skin/coat/nails
T ⇒ A nonsense probably null
86 UTSW Entpd5 0.000 eatsy 12 84373857-84409029 bp (-) 84382295 Autosomal Recessive (10;46)
Autosomal Semidominant (2;9)
0.918 2019-09-04
External Program
125-03 Response - increased
Body Weight - decreased
Body Weight (DSS) - decreased
Body Weight (DSS, z-score) - decreased
Body Weight (Female) - decreased
Body Weight (Z-score) - decreased
DSS: sensitive day 10
DSS: sensitive day 7
FACS B1 cells - increased
FACS CD44+ CD8 MFI - increased
FACS central memory CD4 T cells in CD4 T cells - increased
FACS central memory CD8 T cells in CD8 T cells - increased
growth/size
TLR signaling defect: hypersensitivity to PAM3CSK4
G ⇒ A nonsense probably null
87 UTSW
has video
Syt2 0.080 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
88 UTSW Ciita 0.126 sisal 16 10480059-10528418 bp (+) 10513288 Autosomal Recessive (9;49)
Autosomal Semidominant (1;4)
0.880 2019-09-04
Anne Murray
FACS CD4+ T cells - decreased
FACS CD4+ T cells in CD3+ T cells - decreased
FACS CD44+ CD4 MFI - increased
FACS CD8+ T cells in CD3+ T cells - increased
FACS naive CD4 T cells in CD4 T cells - decreased
post-MCMV FACS CD4:CD8 - decreased
post-MCMV FACS CD8+ T cells in CD3+ T cells - increased
T-dependent humoral response defect- decreased antibody response to OVA+ alum immunization
T-dependent humoral response defect- decreased antibody response to rSFV
TLR signaling defect: hypersensitivity to R848
TLR signaling defect: TNF production by macrophages
G ⇒ A critical splice donor site 1 bp probably null
89 UTSW Lyn 0.000 Cress 4 3678115-3813122 bp (+) 3789908 Autosomal Dominant (6;31)
Autosomal Recessive (4;18), Autosomal Semidominant (14;82)
0.969 2019-09-04
Diantha La Vine
FACS B cells - decreased
FACS B:T cells - decreased
FACS B1a cells - increased
FACS B1a cells in B1 cells - increased
FACS B220 MFI - decreased
FACS CD4+ T cells - increased
FACS CD8+ T cells - increased
FACS IgD+ B cell percentage - decreased
FACS IgM+ B cells - decreased
FACS neutrophils - decreased
FACS T cells - increased
MCMV susceptibility
post-MCMV FACS B cells - decreased
post-MCMV FACS B:T cells - decreased
post-MCMV FACS B1b cells - increased
post-MCMV FACS B2 cells - decreased
post-MCMV FACS B220 MFI - 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
T-dependent humoral response defect- decreased antibody response to rSFV
T-independent B cell response defect- decreased TNP-specific IgM to TNP-Ficoll immunization
T ⇒ A nonsense probably null
90 UTSW
has video
Myo6 0.000 torticollis 9 80165031-80311729 bp (+) 80288217 Autosomal Recessive (4;15) 0.174 2019-09-04
Anne Murray
behavior/neurological
dsDNA induced type I IFN production - increased
hearing/vestibular/ear
impaired response to dsDNA- type I IFN production by macrophages
G ⇒ A critical splice donor site 1 bp probably null
91 UTSW Rorc 0.814 macadamias 3 94372794-94398276 bp (+) 94397302 Autosomal Dominant (1;4)
Autosomal Recessive (1;8)
0.923 2019-09-04
Diantha La Vine
IgE response to a Cysteine Protease (Papain) - increased
T-dependent humoral response defect- decreased antibody response to rSFV
T ⇒ A nonsense probably null
92 UTSW Socs2 0.213 samson 10 95385362-95417180 bp (-) 95413081 Autosomal Recessive (3;15)
Autosomal Semidominant (1;5)
0.433 2019-09-04
Bruce Beutler
Body Weight - increased
Body Weight (DSS Male) - increased
Body Weight (DSS) - increased
Body Weight (Male) - increased
growth/size
C ⇒ A nonsense probably null
93 UTSW Prkcb 0.000 Almonde 7 122288751-122634402 bp (+) 122582449 Autosomal Recessive (1;5)
Autosomal Semidominant (6;43)
0.955 2019-09-04
Diantha La Vine
FACS B1 cells - decreased
FACS B1a cells in B1 cells - decreased
FACS IgM MFI - increased
post-MCMV FACS B1a cells in B1 cells - decreased
post-MCMV FACS B1b cells in B1 cells - increased
T-independent B cell response defect- decreased TNP-specific IgM to TNP-Ficoll immunization
TLR signaling defect: hyposensitivity to poly I:C
TLR signaling defect: TNF production by macrophages
T ⇒ A missense probably damaging 1.000
94 UTSW Alms1 0.000 ares 6 85587531-85702753 bp (+) 85621275 Autosomal Recessive (2;10)
Autosomal Semidominant (1;4)
0.981 2019-09-04
External Program
Body Weight - increased
Body Weight (Female) - increased
Body Weight (Male) - increased
Body Weight (Z-score) - increased
growth/size
C ⇒ T nonsense probably null
95 UTSW Lepr 0.000 paleo 4 101717404-101815352 bp (+) 101745645 Autosomal Recessive (10;147) 0.933 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 (Female) - increased
Body Weight (Male) - increased
Body Weight (Z-score) - increased
FACS macrophages - increased
growth/size
T ⇒ A missense possibly damaging 0.938
96 UTSW Tub 0.000 troy 7 108950338-109034460 bp (+) 109020954 Autosomal Recessive (6;31) 0.706 2019-09-04
Bruce Beutler
adipose tissue
Body Weight - increased
Body Weight (DSS Male) - increased
Body Weight (DSS) - increased
Body Weight (DSS, z-score) - increased
Body Weight (Z-score) - increased
growth/size
C ⇒ T nonsense probably null
97 UTSW Nfkb2 0.592 pale_fire 19 46304737-46312090 bp (+) 46311626 Unknown (1;0)
Autosomal Recessive (1;4)
0.087 2019-09-04
Diantha La Vine
FACS B1a cells - increased
A ⇒ T missense possibly damaging 0.956
98 UTSW Mapk3 0.000 wabasha 7 126759601-126765819 bp (+) 126763512 Autosomal Recessive (2;10) 0.524 2019-09-04
Peter Jurek
NALP3 inflammasome signaling defect
NLRP3 inflammasome: low response
A ⇒ T nonsense probably null
99 UTSW Nlrp3 0.101 Park5 11 59541568-59566956 bp (+) 59548476 Autosomal Semidominant (2;11) 0.938 2019-09-04
Diantha La Vine
NALP3 inflammasome signaling defect
NLRP3 inflammasome: low response
T ⇒ A missense probably damaging 0.991
100 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
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