Phenotypic Mutations

145 mutations affecting 102 genes are currently displayed.

Mutations Mapped and Identified Based on Phenotype
[records 1 to 100 of 145] per page Full List
 




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Verification Probability

Phenotypic Category

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1 UTSW Gys2 0.241 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
2 UTSW Ebf1 0.916 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
3 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
4 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
5 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
6 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
7 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
8 UTSW Ptpn6 0.567 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
9 UTSW Trpc1 0.144 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
10 UTSW Ptpn6 0.567 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
11 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
12 UTSW
has video
Dst 0.373 gobble 1 33908225-34308661 bp (+) 34165155 Autosomal Dominant (1;1)
Autosomal Recessive (6;23)
0.443 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
13 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
14 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
15 UTSW Lyst 0.317 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
16 UTSW Lyst 0.317 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
17 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
18 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
19 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
20 UTSW Cacna2d2 0.916 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
21 UTSW Irf9 0.165 Long_lost 14 55603571-55610030 bp (+) 55605910 Autosomal Recessive (1;7)
Autosomal Semidominant (3;16)
0.266 2019-09-04
Katherine Timer
dsDNA induced type I IFN production - increased
IgE response to a Cysteine Protease (Papain) - decreased
impaired response to dsDNA- type I IFN production by macrophages
LPS-induced Necroptosis - decreased
Macrophage necroptosis: low
T ⇒ C splice site 6 bp probably null
22 UTSW Prkdc 0.953 screamer2 16 15637866-15842235 bp (+) 15652552 Autosomal Recessive (6;56) 0.883 2019-09-04
Diantha La Vine
Body Weight - decreased
Body Weight (DSS) - decreased
Body Weight (DSS, z-score) - 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
TLR signaling defect: hypersensitivity to R848
TLR signaling defect: TNF production by macrophages
T ⇒ C critical splice donor site probably null
23 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
24 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
25 UTSW Malt1 0.359 bryce_canyon 18 65430962-65478823 bp (+) 65462915 Autosomal Recessive (2;6)
Autosomal Semidominant (1;3)
0.090 2019-09-04
Anne Murray
FACS CD8a+ DCs (gated in CD11c+ cells) - increased
T-dependent humoral response defect- decreased antibody response to OVA+ alum immunization
T-independent B cell response defect- decreased TNP-specific IgM to TNP-Ficoll immunization
T ⇒ C critical splice donor site 2 bp probably null
26 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
27 UTSW Gk5 0.000 barrener 9 96119362-96184608 bp (+) 96129096 Autosomal Recessive (4;23)
Autosomal Semidominant (1;4)
0.814 2019-09-04
Anne Murray
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 central memory CD8 T cells in CD8 T cells - increased
NALP3 inflammasome signaling defect
NLRP3 inflammasome: high response
skin/coat/nails
T ⇒ C critical splice donor site probably null
28 UTSW Pde6d 0.280 costume 1 86542994-86582629 bp (-) 86547526 Unknown (2;0)
Autosomal Recessive (4;23)
0.567 2019-09-04
Anne Murray
Body Weight - decreased
Body Weight (DSS Female) - decreased
Body Weight (Female) - decreased
Body Weight (Male) - decreased
Body Weight (Z-score) - decreased
T ⇒ C splice site 3 bp probably null
29 UTSW
has photo
Egfr 0.928 set 11 16752203-16918158 bp (+) 16871881 Autosomal Recessive (2;8) 0.075 2019-09-04
Anne Murray
30 min GTT hypoglycemic (male)
skin/coat/nails
T ⇒ C splice site 6 bp probably benign
30 UTSW Galc 0.000 Crabby2 12 98202294-98259459 bp (-) 98234266 Autosomal Semidominant (2;14) 0.820 2019-09-04
Diantha La Vine
Body Weight - decreased
Body Weight (Z-score) - decreased
T ⇒ C missense probably damaging 1.000
31 UTSW Irf4 0.341 Honey2 13 30749226-30766976 bp (+) 30761490 Autosomal Dominant (1;7)
Autosomal Recessive (1;13), Autosomal Semidominant (1;9)
0.159 2019-09-04
Anne Murray
FACS B1 cells - increased
FACS IgM MFI - increased
T-dependent humoral response defect- decreased antibody response to rSFV
T ⇒ C splice site probably benign
32 UTSW Socs7 0.000 Dunn 11 97362551-97398542 bp (+) 97373124 Autosomal Dominant (1;3) failed initial filter 2019-09-04
Anne Murray
Body Weight - decreased
T ⇒ C missense probably benign 0.147
33 UTSW
has photo
Lyst 0.317 vulpix 13 13590397-13778803 bp (+) 13696794 Autosomal Recessive (4;15) 0.575 2019-09-04
Diantha La Vine
FACS CD44+ CD8 T cells - increased
FACS CD8a+ DCs (gated in CD11c+ cells) - increased
FACS NK1.1+ T cells - increased
pigmentation
skin/coat/nails
T ⇒ C splice site probably null
34 UTSW
has photo
Fgf3 1.000 Porkchop 7 144838083-144844436 bp (+) 144840707 Autosomal Dominant (1;2)
Autosomal Recessive (1;3)
failed initial filter 2019-09-04
Anne Murray
limbs/digits/tail phenotype
OVA-specific IgE after 2nd OVA/Alum - increased
T ⇒ C missense probably damaging 1.000
35 UTSW Ptpn6 0.567 candle 6 124720707-124738714 bp (-) 124728419 Autosomal Recessive (7;48)
Autosomal Semidominant (3;14)
0.901 2019-09-04
Diantha La Vine
FACS B cells - decreased
FACS B1 cells - increased
FACS B1a cells - increased
FACS B1b cells - increased
FACS B2 cells - decreased
FACS CD11c+ DCs - increased
FACS CD44+ CD8 MFI - increased
FACS IgD+ B cell percentage - decreased
FACS IgM+ B cells - decreased
FACS macrophages - increased
T ⇒ C missense probably damaging 1.000
36 UTSW Vldlr 0.256 spotty 19 27216484-27254231 bp (+) 27238792 Autosomal Recessive (3;29)
Autosomal Semidominant (2;10)
0.394 2019-09-04
Anne Murray
TLR signaling defect: hypersensitivity to CpG + IFNg
vision/eye
T ⇒ C missense probably damaging 1.000
37 UTSW Zap70 0.204 mesa_verde 1 36761798-36782818 bp (+) 36779173 Autosomal Recessive (6;25) 0.787 2019-09-04
Diantha La Vine
FACS CD44+ CD8 MFI - increased
FACS CD44+ T cells - increased
FACS CD44+ T MFI - increased
FACS central memory CD8 T cells in CD8 T cells - increased
FACS naive CD8 T cells in CD8 T cells - decreased
T-dependent humoral response defect- decreased antibody response to rSFV
T ⇒ C missense probably damaging 0.998
38 UTSW Gsdmd 0.000 gasder 15 75862327-75867408 bp (+) 75864357 Autosomal Recessive (1;9) 0.273 2019-09-04
Anne Murray
Nlrc4 inflammasome: low response
T ⇒ C missense probably damaging 1.000
39 UTSW Card11 0.000 Tumnus 5 140872990-141000582 bp (-) 140885945 Autosomal Semidominant (1;7) 0.119 2019-09-04
Diantha La Vine
FACS B1 cells - increased
T-independent B cell response defect- decreased TNP-specific IgM to TNP-Ficoll immunization
T ⇒ C missense possibly damaging 0.755
40 UTSW Prkdc 0.953 screamer3 16 15637866-15842235 bp (+) 15740332 Autosomal Recessive (4;19) failed initial filter 2019-09-04
Diantha La Vine
FACS B cells - decreased
FACS B1b cells - increased
FACS neutrophils - increased
TLR signaling defect: hypersensitivity to R848
TLR signaling defect: TNF production by macrophages
T ⇒ C critical splice donor site 2 bp probably null
41 UTSW Prkdc 0.953 Screamer8 16 15637866-15842235 bp (+) 15719433 Unknown no linkage result 2019-09-04
Diantha La Vine
T ⇒ C missense probably benign 0.004
42 UTSW Klc1 0.416 dwarf 12 111758849-111807844 bp (+) 111795603 Autosomal Recessive (3;21) 0.645 2019-09-04
Anne Murray
Body Weight - decreased
Body Weight (DSS Male) - decreased
Body Weight (DSS) - decreased
Body Weight (DSS, z-score) - decreased
T ⇒ C missense probably damaging 0.997
43 UTSW Adra2a 0.000 splenda2 19 54045182-54048982 bp (+) 54046639 Autosomal Recessive (4;19)
Autosomal Semidominant (2;7)
0.806 2019-09-04
Anne Murray
30 min GTT hypoglycemic
30 min GTT hypoglycemic (female)
30 min GTT hypoglycemic (male)
T ⇒ C missense probably damaging 1.000
44 UTSW Nlrp1a 0.095 watermelon 11 71092236-71144704 bp (-) 71122705 Autosomal Recessive (22;135) 0.889 2019-09-04
Anne Murray
Body Weight - decreased
Body Weight (Z-score) - decreased
FACS B cells - decreased
FACS B:T cells - decreased
FACS B1 cells - decreased
FACS B1b cells - increased
FACS B2 cells - decreased
FACS CD4:CD8 - increased
FACS CD8+ 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 IgD+ B cell percentage - 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 - decreased
FACS T cells - decreased
LPS-induced Necroptosis - decreased
Macrophage necroptosis: low
TLR signaling defect: hypersensitivity to R848
TLR signaling defect: TNF production by macrophages
total IgE level - increased
T ⇒ C missense probably benign 0.075
45 UTSW Xrcc5 1.000 durio 1 72307421-72394952 bp (+) 72339029 Autosomal Dominant (1;5)
Autosomal Recessive (20;125), Autosomal Semidominant (1;4)
0.881 2019-09-04
Anne Murray
30 min GTT hypoglycemic
DSS: resistant day 10
FACS B1a cells - increased
FACS B1b cells - increased
FACS B2 cells - decreased
FACS B220 MFI - increased
FACS CD11c+ DCs - increased
FACS CD4:CD8 - increased
FACS CD4+ T cells - decreased
FACS CD4+ T cells in CD3+ T cells - 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 naive CD4 T cells in CD4 T cells - decreased
FACS naive CD8 T cells in CD8 T cells - decreased
FACS neutrophils - increased
FACS T cells - decreased
Total IgE After 2nd OVA/Alum Challenge (day 7) - increased
T ⇒ C missense probably damaging 0.995
46 UTSW Stk4 0.000 hallon 2 164070322-164155524 bp (+) 164099827 Autosomal Recessive (28;318) 0.990 2019-09-04
Diantha La Vine
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
T ⇒ C critical splice donor site probably null
47 UTSW
has photo
Oca2 0.317 hardy 7 56239760-56536518 bp (+) 56295460 Autosomal Recessive (2;10) 0.307 2019-09-04
Emre Turer
DSS: sensitive day 7
pigmentation
skin/coat/nails
T ⇒ C missense probably damaging 0.997
48 UTSW Rac2 0.000 Potter2 15 78559167-78572783 bp (-) 78565454 Autosomal Dominant (8;103)
Autosomal Recessive (6;57), Autosomal Semidominant (12;249)
0.855 2019-09-04
Anne Murray
CD8 response - decreased
CTL killing - decreased
CTL killing dominant epitope - decreased
FACS B:T cells - increased
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 - 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 naive CD4 T cells in CD4 T cells - decreased
FACS naive CD8 T cells in CD8 T cells - decreased
FACS T cells - 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
Total IgE After 2nd OVA/Alum Challenge (day 7) - decreased
T ⇒ C missense probably damaging 0.971
49 UTSW Asf1b 0.000 contraire 8 83955507-83970197 bp (+) 83955911 Autosomal Recessive (3;14) 0.365 2019-09-04
Anne Murray
FACS CD44+ CD8 MFI - increased
FACS effector memory CD8 T cells in CD8 T cells - increased
OVA-specific IgE - increased
total IgE level - increased
T ⇒ C missense probably damaging 0.999
50 UTSW Cd40 0.000 noelle 2 165055627-165072948 bp (+) 165063563 Autosomal Recessive (3;35) 0.871 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
total IgE level - decreased
T ⇒ C critical splice donor site probably null
51 UTSW Ticam2 0.000 Consequential 18 46559155-46574533 bp (-) 46560779 Unknown no linkage result 2019-09-04
Anne Murray
T ⇒ C missense probably damaging 1.000
52 UTSW Card11 0.000 Dealer 5 140872990-141000582 bp (-) 140885877 Autosomal Semidominant (3;15) 0.886 2019-09-04
Diantha La Vine
FACS B1a cells in B1 cells - decreased
FACS B1b cells in B1 cells - increased
T-independent B cell response defect- decreased TNP-specific IgM to TNP-Ficoll immunization
T ⇒ C missense probably damaging 1.000
53 UTSW Tnfrsf9 0.084 asilomar 4 150914562-150946102 bp (+) 150929874 Autosomal Recessive (7;36) 0.565 2019-09-04
Anne Murray
FACS B cells - increased
FACS B:T cells - increased
FACS CD8+ T cells - decreased
FACS effector memory CD4 T cells in CD4 T cells - increased
FACS effector memory CD8 T cells in CD8 T cells - increased
FACS IgD+ B cell percentage - increased
FACS IgM+ B cells - increased
T ⇒ C missense probably benign 0.015
54 UTSW Muc2 0.093 nomoco 7 141690340-141754693 bp (+) 141753719 Autosomal Recessive (2;15) 0.676 2019-09-04
Anne Murray
DSS: sensitive day 10
DSS: sensitive day 7
T ⇒ C missense probably damaging 1.000
55 UTSW Stk4 0.000 ribeye 2 164070322-164155524 bp (+) 164079566 Autosomal Recessive (5;25) 0.986 2019-09-04
Diantha La Vine
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
T ⇒ C missense probably damaging 1.000
56 UTSW Nlrp1a 0.095 dreary 11 71092236-71144704 bp (-) 71113640 Autosomal Recessive (10;54) 0.963 2019-09-04
Anne Murray
FACS B cells - decreased
FACS B:T cells - decreased
FACS IgM+ B cells - decreased
FACS neutrophils - increased
FACS NK cells - decreased
LPS-induced Necroptosis - decreased
Macrophage necroptosis: low
Nlrc4 inflammasome: high response
T ⇒ C critical splice acceptor site probably null
57 UTSW Ltbr 0.155 marine_blue 6 125306571-125313885 bp (-) 125312808 Autosomal Recessive (8;71)
Autosomal Semidominant (5;26)
0.894 2019-09-04
Diantha La Vine
CTL killing - increased
CTL killing dominant epitope - increased
FACS B cells - increased
FACS B:T cells - increased
FACS B1 cells - increased
FACS B220 MFI - decreased
FACS CD44+ CD4 MFI - decreased
FACS CD44+ CD4 T cells - decreased
FACS CD44+ T cells - decreased
FACS CD44+ T MFI - decreased
FACS CD8+ T cells - decreased
FACS NK cells - decreased
NK cell response - decreased
NK killing - decreased
T-independent B cell response defect- decreased TNP-specific IgM to TNP-Ficoll immunization
T ⇒ C missense probably damaging 0.983
58 UTSW Ctla4 0.129 complementary 1 60887000-60915832 bp (+) 60912491 Autosomal Recessive (3;44)
Autosomal Semidominant (4;23)
0.498 2019-09-04
Anne Murray
FACS CD44+ CD4 MFI - 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
T ⇒ C missense probably damaging 1.000
59 UTSW Il4ra 0.067 Lowe 7 125552120-125579474 bp (+) 125567221 Autosomal Dominant (1;2)
Autosomal Semidominant (1;5)
0.347 2019-09-04
Diantha La Vine
OVA-specific IgE - decreased
total IgE level - decreased
T ⇒ C missense probably damaging 1.000
60 UTSW Tnfrsf13c 0.204 Teton_range 15 82221743-82224369 bp (-) 82223154 Autosomal Recessive (1;5)
Autosomal Semidominant (1;9)
0.396 2019-09-04
Anne Murray
FACS B cells - decreased
FACS B:T cells - decreased
T ⇒ C missense probably damaging 0.979
61 UTSW Pax5 1.000 k2 4 44524757-44710487 bp (-) 44697630 Autosomal Recessive (1;4)
Autosomal Semidominant (1;4)
0.781 2019-09-04
Diantha La Vine
FACS B220 MFI - decreased
FACS IgD MFI - decreased
T ⇒ C missense probably damaging 1.000
62 UTSW Pax5 1.000 Glacier3 4 44524757-44710487 bp (-) 44679526 Autosomal Dominant (1;4) 0.715 2019-09-04
Diantha La Vine
FACS IgD MFI - decreased
T ⇒ C missense probably damaging 0.995
63 UTSW Dclre1c 0.321 Chairy 2 3424131-3464130 bp (+) 3452863 Autosomal Dominant (1;4)
Autosomal Recessive (9;49), Autosomal Semidominant (5;20)
0.859 2019-09-04
Anne Murray
Body Weight - increased
Body Weight (Female) - increased
Body Weight (Z-score) - increased
FACS CD4+ T cells - decreased
FACS CD44+ CD4 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 effector memory CD8 T cells in CD8 T cells - increased
FACS naive CD8 T cells in CD8 T cells - decreased
FACS T cells - decreased
T ⇒ C missense probably damaging 1.000
64 UTSW Lig4 1.000 posey2 8 9969049-9977686 bp (-) 9971585 Autosomal Recessive (3;17) 0.240 2019-09-04
Anne Murray
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 benign 0.000
65 UTSW
has video
Galc 0.000 quake 12 98202294-98259459 bp (-) 98242714 Autosomal Recessive (1;4) failed initial filter 2019-09-04
Anne Murray
behavior/neurological
T ⇒ C missense probably damaging 1.000
66 UTSW Rasgrp1 0.229 Haddock 2 117279993-117343001 bp (-) 117291895 Autosomal Dominant (2;17) 0.787 2019-09-04
Diantha La Vine
FACS CD44+ CD4 MFI - increased
FACS CD44+ T MFI - increased
T ⇒ C missense probably damaging 0.989
67 UTSW Alms1 0.000 portly 6 85587531-85702753 bp (+) 85619712 Autosomal Recessive (3;14) 0.878 2019-09-04
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
68 UTSW Irf8 0.000 gemini2 8 120736358-120756694 bp (+) 120753707 Autosomal Recessive (3;23)
Autosomal Semidominant (1;5)
0.347 2019-09-04
Anne Murray
FACS CD4:CD8 - increased
FACS CD4+ T cells in CD3+ T cells - increased
FACS CD8+ T cells - decreased
FACS CD8+ T cells in CD3+ T cells - decreased
T ⇒ C missense probably damaging 0.968
69 UTSW Prkdc 0.953 Bushtit 16 15637866-15842235 bp (+) 15752764 Autosomal Semidominant (1;4) 0.635 2019-09-04
Diantha La Vine
FACS B1 cells - decreased
T ⇒ C missense probably damaging 0.966
70 UTSW Atm 0.884 Strato 9 53439149-53536740 bp (-) 53503018 Autosomal Semidominant (1;4) 0.671 2019-09-04
Diantha La Vine
FACS CD44+ CD8 MFI - increased
T ⇒ C missense probably damaging 0.997
71 UTSW Dock2 0.000 Landing 11 34226815-34783892 bp (-) 34714501 Autosomal Dominant (2;8) 0.378 2019-09-04
Diantha La Vine
FACS CD4:CD8 - decreased
FACS CD8+ T cells in CD3+ T cells - increased
T ⇒ C missense possibly damaging 0.827
72 UTSW Dock8 0.079 Guardate 19 24999529-25202432 bp (+) 25149831 Autosomal Dominant (1;4) 0.622 2019-09-04
Diantha La Vine
T-dependent humoral response defect- decreased antibody response to OVA+ alum immunization
T ⇒ C missense probably benign 0.000
73 UTSW Hcn2 0.000 asombrarse 10 79716634-79736108 bp (+) 79724611 Autosomal Recessive (4;19) 0.971 2019-09-04
Diantha La Vine
Body Weight - decreased
Body Weight (Female) - decreased
Body Weight (Z-score) - decreased
FACS macrophages - increased
T ⇒ C missense probably damaging 1.000
74 UTSW Itgb2 0.360 Only_just 10 77530252-77565708 bp (+) 77549968 Autosomal Semidominant (3;12) 0.766 2019-09-04
Anne Murray
FACS CD44+ CD4 MFI - increased
FACS CD44+ T MFI - increased
FACS effector memory CD4 T cells in CD4 T cells - increased
T ⇒ C missense possibly damaging 0.803
75 UTSW Klhl6 0.071 Ascension 16 19946496-19983037 bp (-) 19947098 Autosomal Recessive (1;4)
Autosomal Semidominant (1;4)
0.862 2019-09-04
Diantha La Vine
FACS B1 cells - increased
FACS CD44+ CD8 T cells - increased
T ⇒ C missense probably damaging 0.998
76 UTSW Prkdc 0.953 updock 16 15637866-15842235 bp (+) 15795094 Autosomal Recessive (1;4) 0.685 2019-09-04
Diantha La Vine
post-MCMV FACS pDCs - increased
T ⇒ C missense probably benign 0.000
77 UTSW Prkdc 0.953 Elmer_fudd 16 15637866-15842235 bp (+) 15808058 Autosomal Dominant (1;4) 0.681 2019-09-04
Diantha La Vine
FACS effector memory CD4 T cells in CD4 T cells - increased
T ⇒ C missense probably benign 0.006
78 UTSW Ptpn6 0.567 caterpillar 6 124720707-124738714 bp (-) 124724984 Autosomal Recessive (2;9) 0.751 2019-09-04
Anne Murray
FACS CD44+ CD8 MFI - increased
FACS CD44+ T MFI - increased
T ⇒ C missense probably benign 0.000
79 UTSW Rasgrp1 0.229 sea_bass 2 117279993-117343001 bp (-) 117282654 Autosomal Recessive (1;4) 0.740 2019-09-04
Anne Murray
FACS NK cells - increased
T ⇒ C missense probably benign 0.023
80 UTSW Trpc1 0.144 Enlarged 9 95705082-95750375 bp (-) 95721471 Autosomal Semidominant (1;5) 0.625 2019-09-04
Anne Murray
Body Weight (Female) - increased
T ⇒ C critical splice acceptor site probably null
81 UTSW Dock2 0.000 Slip 11 34226815-34783892 bp (-) 34294286 Autosomal Dominant (4;18) 0.560 2019-09-04
Diantha La Vine
Body Weight - decreased
Body Weight (Z-score) - decreased
FACS B1a cells in B1 cells - decreased
FACS B1b cells in B1 cells - increased
T ⇒ C missense probably benign 0.253
82 UTSW Dock2 0.000 skiff 11 34226815-34783892 bp (-) 34262388 Autosomal Recessive (2;9)
Autosomal Semidominant (1;5)
0.249 2019-09-04
Diantha La Vine
FACS CD44+ CD8 T cells - increased
FACS CD44+ T cells - increased
FACS CD8+ T cells - increased
T ⇒ C missense probably null 0.795
83 UTSW Themis 0.129 six_flags 10 28668360-28883818 bp (+) 28781907 Autosomal Recessive (18;289)
Autosomal Semidominant (1;4)
0.880 2019-09-04
Anne Murray
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+ CD4 MFI - increased
FACS CD44+ CD8 MFI - increased
FACS CD44+ CD8 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 naive CD4 T cells in CD4 T cells - decreased
FACS naive CD8 T cells in CD8 T cells - decreased
FACS NK cells - increased
FACS NK1.1+ T cells - increased
FACS T cells - decreased
T ⇒ C missense probably damaging 1.000
84 UTSW Prkdc 0.953 crackle 16 15637866-15842235 bp (+) 15786050 Autosomal Recessive (22;331) 0.902 2019-09-04
Diantha La Vine
FACS B cells - decreased
FACS B:T cells - increased
FACS B1 cells - decreased
FACS B220 MFI - decreased
FACS CD4:CD8 - increased
FACS CD4+ T cells - decreased
FACS CD44+ CD4 MFI - increased
FACS CD44+ CD8 MFI - increased
FACS CD44+ T MFI - increased
FACS CD8+ T cells - decreased
FACS central memory CD4 T cells in CD4 T cells - increased
FACS central memory CD8 T cells in CD8 T cells - increased
FACS effector memory CD4 T cells in CD4 T cells - increased
FACS effector memory CD8 T cells in CD8 T cells - increased
FACS naive CD4 T cells in CD4 T cells - decreased
FACS naive CD8 T cells in CD8 T cells - decreased
FACS NK cells - increased
FACS T cells - decreased
T ⇒ C critical splice donor site 2 bp probably null
85 UTSW Dock8 0.079 warts_and_all 19 24999529-25202432 bp (+) 25169501 Autosomal Recessive (15;109)
Autosomal Semidominant (1;4)
0.846 2019-09-04
Diantha La Vine
FACS B:T cells - increased
FACS B1 cells - decreased
FACS B220 MFI - decreased
FACS CD4+ T cells - decreased
FACS CD44+ CD4 MFI - increased
FACS CD44+ CD4 T cells - increased
FACS CD44+ CD8 MFI - increased
FACS CD44+ T MFI - increased
FACS CD8+ T cells - decreased
FACS central memory CD4 T cells in CD4 T cells - increased
FACS central memory CD8 T cells in CD8 T cells - increased
FACS effector memory CD4 T cells in CD4 T cells - increased
FACS effector memory CD8 T cells in CD8 T cells - increased
FACS naive CD4 T cells in CD4 T cells - decreased
FACS naive CD8 T cells in CD8 T cells - decreased
FACS T cells - decreased
T ⇒ C critical splice donor site 2 bp probably null
86 UTSW Prkcb 0.000 Mesopotamia 7 122288751-122634402 bp (+) 122289514 Autosomal Dominant (1;5)
Autosomal Recessive (1;3), Autosomal Semidominant (4;39)
0.947 2019-09-04
Anne Murray
FACS B:T cells - decreased
FACS B1 cells - decreased
FACS CD8+ T cells - increased
FACS central memory CD8 T cells in CD8 T cells - increased
FACS T cells - increased
T ⇒ C missense probably damaging 0.997
87 UTSW Nfkb2 0.559 lolita 19 46304737-46312090 bp (+) 46307720 Autosomal Recessive (15;213)
Autosomal Semidominant (1;14)
0.954 2019-09-04
Diantha La Vine
FACS B cells - decreased
FACS B:T cells - decreased
FACS B1 cells - increased
FACS B220 MFI - decreased
FACS CD4:CD8 - decreased
FACS CD4+ T cells - increased
FACS CD4+ T cells in CD3+ T cells - decreased
FACS CD44+ CD4 MFI - decreased
FACS CD44+ CD8 MFI - decreased
FACS CD44+ T MFI - decreased
FACS CD8+ T cells - increased
FACS CD8+ T cells in CD3+ 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 NK cells - decreased
FACS T cells - increased
T ⇒ C critical splice donor site 2 bp probably null
88 UTSW
has photo
Mbtps1 1.000 woodrat 8 119508156-119558735 bp (-) 119529030 Unknown (1;0) no linkage results 2019-08-15
External Program
Body Weight - decreased
Body Weight (Z-score) - decreased
DSS: sensitive day 7
embryogenesis
homeostasis/metabolism
immune system
lethality-embryonic/perinatal
pigmentation
reproductive system
skin/coat/nails
T ⇒ C missense probably damaging 1.000
89 UTSW Prkdc 0.953 clover 16 15637866-15842235 bp (+) 15702157 Unknown no linkage results 2019-07-17
Diantha La Vine
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 ⇒ C splice site 2 bp probably benign
90 UTSW Rorc 0.798 chestnut 3 94372794-94398276 bp (+) 94377609 Autosomal Recessive (5;26)
Autosomal Semidominant (3;14)
0.662 2019-06-03
Diantha La Vine
Body Weight (Male) - increased
FACS B:T cells - increased
FACS CD4+ T cells - decreased
FACS CD4+ T cells in CD3+ T cells - decreased
FACS CD8+ T cells - decreased
FACS NK cells - increased
FACS T cells - decreased
T-dependent humoral response defect- decreased antibody response to rSFV
T ⇒ C splice site 6 bp probably benign
91 UTSW Ltbp3 0.276 csp 19 5740904-5758532 bp (+) 5747688 Unknown no linkage results 2019-05-30
Diantha La Vine
craniofacial
growth/size
limbs/digits/tail phenotype
skeleton phenotype
T ⇒ C missense probably damaging 0.999
92 APN Dock8 0.079 captain_morgan 19 24999529-25202432 bp (+) 25127711 Unknown no linkage results 2019-05-26
Diantha La Vine
FACS B cells - decreased
FACS CD4+ T cells - decreased
FACS CD8+ T cells - decreased
immune system
T ⇒ C critical splice donor site 2 bp probably benign
93 APN Dock8 0.079 primurus 19 24999529-25202432 bp (+) 25183609 Unknown no linkage results 2019-05-26
Diantha La Vine
FACS B cells - decreased
FACS CD4+ T cells - decreased
FACS CD8+ T cells - decreased
immune system
T ⇒ C missense probably damaging 1.000
94 UTSW
has video
Scn10a 0.264 possum 9 119608456-119719322 bp (-) 119638705 Unknown no linkage results 2019-05-17
Anne Murray
behavior/neurological
nervous system
T ⇒ C missense probably damaging 0.995
95 UTSW Prkcb 0.000 untied 7 122288751-122634402 bp (+) 122582439 Unknown (1;0) no linkage results 2019-05-17
Diantha La Vine
immune system
T-independent B cell response defect- decreased TNP-specific IgM to TNP-Ficoll immunization
T ⇒ C missense possibly damaging 0.905
96 APN Prkcb 0.000 tilcara 7 122288751-122634402 bp (+) 122595005 Unknown no linkage results 2019-05-17
Diantha La Vine
immune system
T-independent B cell response defect- decreased TNP-specific IgM to TNP-Ficoll immunization
T ⇒ C missense probably damaging 0.997
97 UTSW Fasl 0.356 riogrande 1 161780689-161788495 bp (-) 161788164 Autosomal Recessive (1;4) 0.143 2019-04-17
Anne Murray
T-dependent humoral response defect- decreased antibody response to rSFV
T ⇒ C missense probably benign 0.000
98 UTSW Sgk3 0.297 woolly 1 9798107-9900845 bp (+) 9886104 Unknown no linkage results 2019-04-01
Stephen Lyon
skin/coat/nails
T ⇒ C missense probably damaging 1.000
99 UTSW
has photo
Slc45a2 0.107 june_gloom 15 11000721-11029233 bp (+) 11023443 Unknown no linkage results 2019-04-01
Stephen Lyon
pigmentation
skin/coat/nails
T ⇒ C missense possibly damaging 0.939
100 APN Zap70 0.204 mrtless 1 36761798-36782818 bp (+) 36781149 Unknown no linkage results 2019-03-05
Diantha La Vine
CD8 response - decreased
FACS CD4+ T cells - decreased
FACS CD8+ T cells - decreased
immune system
T ⇒ C missense probably damaging 1.000
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