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 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
2 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
3 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
4 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
5 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
6 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
7 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
8 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
9 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
10 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
11 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
12 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
13 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
14 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
15 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
16 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
17 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
18 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
19 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
20 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
21 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
22 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
23 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
24 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
25 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
26 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
27 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
28 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
29 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
30 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
31 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
32 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
33 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
34 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
35 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
36 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
37 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
38 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
39 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
40 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
41 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
42 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
43 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
44 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
45 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
46 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
47 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
48 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
49 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
50 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
51 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
52 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
53 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
54 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
55 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
56 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
57 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
58 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
59 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
60 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
61 UTSW Tnfsf13b 0.096 Applecrisp 8 10006467-10039072 bp (+) 10031534 Autosomal Recessive (1;1)
Autosomal Semidominant (1;5)
0.958 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
62 UTSW Irf7 0.000 Houstonian 7 141262706-141266481 bp (-) 141264022 Autosomal Recessive (1;4) 0.287 2019-09-04
Anne Murray
Nlrc4 inflammasome: high response
T ⇒ C missense probably damaging 0.992
63 UTSW Lyst 0.299 Swallow 13 13590397-13778803 bp (+) 13757422 Autosomal Semidominant (2;11) 0.046 2019-09-04
Diantha La Vine
125-03 Response - decreased
phagocytosis in PECs - increased
T ⇒ C missense probably benign 0.004
64 UTSW Lck 0.000 lockdown 4 129548344-129573641 bp (-) 129558127 Autosomal Recessive (13;68)
Autosomal Semidominant (2;8)
0.955 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
FACS effector memory CD4 T cells in CD4 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
65 UTSW Nos3 0.000 paul 5 24364810-24384474 bp (+) 24372704 Autosomal Recessive (2;8) 0.210 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
66 UTSW Adamts20 0.164 buckeye 15 94270163-94465418 bp (-) 94341087 Unknown (1;0) failed initial filter 2019-09-04
Diantha La Vine
pigmentation
skin/coat/nails
C ⇒ T missense probably damaging 0.999
67 UTSW Mc4r 0.090 chubby 18 66857715-66860472 bp (-) 66859847 Autosomal Recessive (5;32) 0.891 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
68 UTSW Hr 0.000 yuanxiao 14 70552212-70573548 bp (+) 70571448 Autosomal Recessive (1;4) 0.383 2019-09-04
Diantha La Vine
Body Weight (DSS Male) - decreased
DSS: sensitive day 10
DSS: sensitive day 7
FACS B cells - decreased
FACS B:T cells - decreased
FACS B1a cells - increased
FACS B1a cells in B1 cells - decreased
FACS B1b cells - increased
FACS B1b cells in B1 cells - increased
FACS B2 cells - decreased
FACS CD4:CD8 - decreased
FACS CD4+ T cells - decreased
FACS CD4+ T cells in CD3+ T cells - decreased
FACS CD44+ CD8 MFI - increased
FACS CD44+ CD8 T cells - decreased
FACS CD44+ T cells - decreased
FACS CD8+ T cells in CD3+ T cells - increased
FACS central memory CD8 T cells in CD8 T cells - increased
FACS IgD+ B cell percentage - decreased
FACS IgM MFI - increased
FACS IgM+ B cells - decreased
FACS macrophages - increased
FACS naive CD8 T cells in CD8 T cells - decreased
FACS neutrophils - increased
FACS T cells - decreased
skin/coat/nails
G ⇒ A missense probably damaging 1.000
69 UTSW Lyst 0.299 lightspeed 13 13590397-13778803 bp (+) 13740536 Autosomal Recessive (1;5) 0.312 2019-09-04
Diantha La Vine
MCMV susceptibility
T ⇒ C missense possibly damaging 0.908
70 UTSW
has photo
Ksr2 0.102 gigante 5 117414000-117775003 bp (+) 117671449 Unknown (1;0)
Autosomal Recessive (5;22)
0.637 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
71 UTSW Rhbdf2 0.000 Lostnf2 11 116598165-116627019 bp (-) 116600191 Autosomal Semidominant (7;57) 0.926 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
72 UTSW
has photo
Adamts20 0.164 Meowth 15 94270163-94465418 bp (-) 94331458 Autosomal Recessive (1;1) failed initial filter 2019-09-04
Diantha La Vine
pigmentation
skin/coat/nails
A ⇒ C missense probably damaging 1.000
73 UTSW Atp2b2 0.907 lohan 6 113743831-114042613 bp (-) 113760650 Autosomal Recessive (2;6) 0.340 2019-09-04
Diantha La Vine
behavior/neurological
Body Weight - decreased
hearing/vestibular/ear
A ⇒ G missense probably damaging 1.000
74 UTSW Ccr7 0.281 lanzhou 11 99144196-99155077 bp (-) 99145277 Autosomal Recessive (3;14)
Autosomal Semidominant (1;5)
0.235 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
75 UTSW Cd40 0.000 bluebonnet 2 165055627-165072948 bp (+) 165062301 Autosomal Recessive (2;12)
Autosomal Semidominant (1;3)
0.464 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
76 UTSW Tlr3 0.082 Rakshasa 8 45395665-45411080 bp (-) 45397697 Autosomal Dominant (1;4) 0.036 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
77 UTSW Card11 0.000 hubei 5 140872990-141000582 bp (-) 140906767 Autosomal Recessive (1;7) 0.197 2019-09-04
Diantha La Vine
FACS B1a cells - increased
T ⇒ C missense probably damaging 0.959
78 UTSW Dock2 0.000 liaoning 11 34226815-34783892 bp (-) 34708793 Autosomal Recessive (5;24) 0.945 2019-09-04
Diantha La Vine
FACS B1b cells in B1 cells - increased
FACS CD4:CD8 - decreased
FACS CD4+ T cells - decreased
FACS CD4+ T cells in CD3+ T cells - decreased
FACS CD8+ T cells in CD3+ T cells - increased
T ⇒ C missense probably damaging 1.000
79 UTSW Tap1 0.000 rose2 17 34187553-34197225 bp (+) 34194941 Autosomal Dominant (2;9)
Autosomal Recessive (6;35), Autosomal Semidominant (1;6)
0.977 2019-09-04
Diantha La Vine
FACS CD4:CD8 - increased
MCMV susceptibility
post-MCMV FACS CD4:CD8 - increased
post-MCMV FACS CD4+ T cells - decreased
post-MCMV FACS CD44+ CD8 T cells - decreased
post-MCMV FACS CD44+ T cells - decreased
post-MCMV FACS CD8+ T cells - decreased
post-MCMV FACS IgM+ B cells - decreased
post-MCMV FACS T cells - decreased
T ⇒ G missense probably damaging 1.000
80 UTSW Ikbkb 1.000 Impaired 8 22659212-22706589 bp (-) 22666020 Autosomal Recessive (2;8)
Autosomal Semidominant (5;21)
0.725 2019-09-04
Diantha La Vine
IgG1 response to a Cysteine Protease (Papain) - decreased
MCMV susceptibility
post-MCMV FACS B1a cells in B1 cells - decreased
post-MCMV FACS B1b cells in B1 cells - increased
post-MCMV FACS CD44+ CD4 MFI - decreased
post-MCMV FACS CD44+ CD8 MFI - decreased
post-MCMV FACS CD44+ CD8 T cells - decreased
post-MCMV FACS CD44+ T MFI - decreased
post-MCMV FACS CD8a+ DCs (gated in CD11c+ cells) - increased
post-MCMV FACS effector memory CD4 T cells in CD4 T cells - decreased
post-MCMV FACS effector memory CD8 T cells in CD8 T cells - decreased
TLR signaling defect: hyposensitivity to MALP2
A ⇒ G missense probably damaging 1.000
81 UTSW Cacna2d2 0.878 hera 9 107399612-107529343 bp (+) 107513280 Autosomal Recessive (3;22) 0.681 2019-09-04
Diantha La Vine
Body Weight - decreased
Body Weight (Male) - decreased
Body Weight (Z-score) - decreased
growth/size
T ⇒ C missense probably damaging 0.999
82 UTSW Kbtbd2 0.000 infinitesimal 6 56777524-56797813 bp (-) 56779090 Autosomal Recessive (9;53) 0.984 2019-09-04
Anne Murray
30 min GTT hyperglycemic
30 min GTT hyperglycemic (male)
Body Weight - decreased
Body Weight (Male) - decreased
Body Weight (Z-score) - decreased
growth/size
MCMV susceptibility
A ⇒ G missense probably damaging 0.996
83 UTSW Atp7b 0.673 daffodil 8 21992785-22060305 bp (-) 21998266 Unknown (1;0) failed initial filter 2019-09-04
Anne Murray
liver/biliary system
MTT Value of PECs - decreased
T ⇒ G missense probably damaging 1.000
84 UTSW Pax1 0.499 wavy 2 147361925-147393295 bp (+) 147365802 Unknown (1;0) failed initial filter 2019-09-04
Anne Murray
limbs/digits/tail phenotype
T ⇒ A missense probably damaging 1.000
85 UTSW Rims4 0.146 demure 2 163859751-163918683 bp (-) 163864120 Autosomal Recessive (2;12) 0.595 2019-09-04
Anne Murray
Body Weight - decreased
Body Weight (Z-score) - decreased
growth/size
A ⇒ T missense probably damaging 0.994
86 UTSW Fasl 0.380 riogrande2 1 161780689-161788495 bp (-) 161787138 Autosomal Recessive (1;6) 0.167 2019-09-04
Anne Murray
T-dependent humoral response defect- decreased antibody response to rSFV
T ⇒ G missense probably benign 0.001
87 UTSW Pappa2 0.000 Lilliputian 1 158711727-158980490 bp (-) 158716990 Autosomal Semidominant (3;18) 0.910 2019-09-04
Diantha La Vine
Body Weight - decreased
Body Weight (Male) - decreased
Body Weight (Z-score) - decreased
growth/size
C ⇒ A missense probably damaging 1.000
88 UTSW Cd22 0.000 gansu 7 30865402-30880342 bp (-) 30870105 Autosomal Recessive (7;42) 0.910 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 B2 cells - decreased
FACS IgD+ B cell percentage - decreased
FACS IgM+ B cells - decreased
C ⇒ T missense probably damaging 1.000
89 UTSW Itgb2 0.330 newhome 10 77530252-77565708 bp (+) 77559681 Autosomal Recessive (2;21) 0.544 2019-09-04
Diantha La Vine
dsDNA induced type I IFN production - increased
impaired response to dsDNA- type I IFN production by macrophages
G ⇒ A missense probably benign 0.001
90 UTSW Slc13a5 0.000 Punk 11 72241989-72267222 bp (-) 72262076 Autosomal Recessive (1;4)
Autosomal Semidominant (4;19)
0.542 2019-09-04
Diantha La Vine
Body Weight - decreased
Body Weight (DSS) - decreased
Body Weight (Female) - decreased
Body Weight (Male) - decreased
Body Weight (Z-score) - decreased
growth/size
A ⇒ G missense probably damaging 0.998
91 UTSW Smtn 0.438 runtish 11 3517523-3540612 bp (-) 3531326 Autosomal Recessive (1;6) 0.102 2019-09-04
Anne Murray
Body Weight - decreased
growth/size
G ⇒ T missense possibly damaging 0.895
92 UTSW
has photo
Mlph 0.091 beau 1 90915085-90951142 bp (+) 90928122 Unknown no linkage result 2019-09-04
Anne Murray
T ⇒ C missense probably damaging 1.000
93 UTSW Itk 0.164 itxaro 11 46325150-46389515 bp (-) 46338217 Autosomal Recessive (10;58) 0.960 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 CD44+ CD8 MFI - increased
FACS CD44+ T MFI - 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 CD8 T cells in CD8 T cells - decreased
IgE response to a Cysteine Protease (Papain) - increased
total IgE level - increased
A ⇒ G missense probably damaging 1.000
94 UTSW Tlr4 0.000 don_knotts 4 66827584-66930284 bp (+) 66841172 Unknown (1;0)
Autosomal Recessive (4;20)
0.270 2019-09-04
Katherine Timer
FACS B cells - decreased
FACS B220 MFI - increased
FACS IgD+ B cell percentage - decreased
FACS IgM+ B cells - decreased
TLR signaling defect: hyposensitivity to LPS
TLR signaling defect: TNF production by macrophages
T ⇒ C missense probably damaging 1.000
95 UTSW Tlr4 0.000 milquetoast 4 66827584-66930284 bp (+) 66839444 Autosomal Recessive (1;4) failed initial filter 2019-09-04
Anne Murray
TLR signaling defect: hyposensitivity to LPS
TLR signaling defect: TNF production by macrophages
A ⇒ T missense probably damaging 0.998
96 UTSW Malt1 0.435 yellowstone 18 65430962-65478823 bp (+) 65458200 Autosomal Recessive (3;8) 0.327 2019-09-04
Anne Murray
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 missense probably damaging 1.000
97 UTSW Zap70 0.204 wanna2 1 36761798-36782818 bp (+) 36781412 Unknown (11;0)
Autosomal Dominant (4;8), Autosomal Recessive (9;86)
0.910 2019-09-04
Diantha La Vine
30 min GTT hypoglycemic
dsDNA induced type I IFN production - increased
FACS B:T cells - increased
FACS CD4:CD8 - increased
FACS CD4+ T cells - decreased
FACS CD4+ T cells in CD3+ T cells - decreased
FACS CD44+ CD4 MFI - increased
FACS CD44+ 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 effector memory CD4 T cells in CD4 T cells - increased
FACS effector memory CD8 T cells in CD8 T cells - increased
FACS NK cells - increased
FACS T cells - decreased
impaired response to dsDNA- type I IFN production by macrophages
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: hypersensitivity to R848
TLR signaling defect: TNF production by macrophages
T ⇒ C missense probably damaging 1.000
98 UTSW Prkcq 0.000 celina 2 11172108-11301222 bp (+) 11283849 Autosomal Recessive (1;6) 0.427 2019-09-04
Anne Murray
T-dependent humoral response defect- decreased antibody response to OVA+ alum immunization
A ⇒ G missense possibly damaging 0.822
99 UTSW
has photo
Mc4r 0.090 halloween 18 66857715-66860472 bp (-) 66859821 Autosomal Recessive (6;47)
Autosomal Semidominant (4;24)
0.839 2019-09-04
Diantha La Vine
125-03 Response - decreased
adipose tissue
Body Weight - increased
Body Weight (Female) - increased
Body Weight (Male) - increased
Body Weight (Z-score) - increased
growth/size
MTT Value of PECs - decreased
T-dependent humoral response defect- increased antibody response to rSFV
T ⇒ A missense probably damaging 0.999
100 UTSW Dock2 0.000 Arches 11 34226815-34783892 bp (-) 34689760 Autosomal Recessive (3;14)
Autosomal Semidominant (3;18)
0.729 2019-09-04
Diantha La Vine
FACS B1 cells - increased
FACS B1a cells in B1 cells - decreased
FACS B220 MFI - decreased
FACS CD4:CD8 - decreased
FACS CD4+ T cells in CD3+ T cells - decreased
FACS CD8+ T cells in CD3+ T cells - increased
A ⇒ T missense probably damaging 0.999
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