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 Ank1 0.696 Hema6 8 22974844-23150497 bp (+) 23097638 Unknown no linkage results 2021-11-17
Diantha La Vine
anemia
T ⇒ C intron probably benign
2 UTSW Alms1 0.000 portly 6 85587531-85702753 bp (+) 85619712 Autosomal Recessive (3;14) 0.829 2021-11-17
Diantha La Vine
Body Weight - increased
Body Weight (Female) - increased
Body Weight (Male) - increased
Body Weight (Z-score) - increased
T ⇒ C missense probably benign 0.004
3 UTSW Adra2a 0.000 splenda2 19 54045182-54048982 bp (+) 54046639 Autosomal Recessive (4;19)
Autosomal Semidominant (1;4)
0.836 2021-11-10
Diantha La Vine
30 min GTT hypoglycemic
30 min GTT hypoglycemic (female)
30 min GTT hypoglycemic (male)
T ⇒ C missense probably damaging 1.000
4 UTSW Tlr9 0.097 Cpg1 9 106222598-106226883 bp (+) 106225007 Unknown (3;0) no linkage results 2021-10-28
Stephen Lyon
immune system
MCMV susceptibility
response to injected CpG DNA - decreased
TLR signaling defect: TNF production by macrophages
T ⇒ C missense probably damaging 1.000
5 UTSW Tlr9 0.097 Cpg11 9 106222598-106226883 bp (+) 106224586 Unknown (1;0) no linkage results 2021-10-28
Stephen Lyon
TLR signaling defect: TNF production by macrophages
T ⇒ C missense probably damaging 0.999
6 UTSW Gys2 0.259 candy_corn 6 142422613-142473109 bp (-) 142456333 Autosomal Recessive (2;13) 0.038 2021-03-22
External Program
30 min GTT hyperoglycemic (female)
T ⇒ C missense probably benign 0.001
7 UTSW Ebf1 0.911 Oregano 11 44617317-45008091 bp (+) 44869169 Autosomal Recessive (13;92)
Autosomal Semidominant (4;22)
0.921 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
8 UTSW Ifngr1 0.000 Marigold 10 19591949-19610229 bp (+) 19601485 Unknown (1;0)
Autosomal Dominant (3;12), Autosomal Recessive (2;14)
0.303 2020-07-29
External Program
FACS IgD+ B cell percentage - increased
FACS IgM+ B cells - increased
FACS macrophages - decreased
TLR signaling defect: hyposensitivity to poly I:C + IFNg
TLR signaling defect: TNF production by macrophages
T ⇒ C critical splice donor site probably null
9 UTSW Dck 0.000 rosa 5 88764996-88783281 bp (+) 88772723 Autosomal Recessive (19;119) 0.980 2020-07-01
External Program
Body Weight - decreased
Body Weight (Z-score) - decreased
FACS B cells - decreased
FACS B:T cells - decreased
FACS B1a cells - increased
FACS B1b cells - increased
FACS B2 cells - decreased
FACS B220 MFI - decreased
FACS CD11c+ DCs - increased
FACS CD4:CD8 - decreased
FACS CD4+ T cells - decreased
FACS CD4+ T cells in CD3+ T cells - decreased
FACS CD44+ CD4 MFI - increased
FACS CD44+ CD8 MFI - increased
FACS CD44+ T cells - increased
FACS CD44+ T MFI - increased
FACS CD8+ T cells in CD3+ T cells - increased
FACS CD8a+ DCs (gated in CD11c+ cells) - increased
FACS central memory CD4 T cells in CD4 T cells - increased
FACS central memory CD8 T cells in CD8 T cells - increased
FACS effector memory CD4 T cells in CD4 T cells - increased
FACS effector memory CD8 T cells in CD8 T cells - increased
FACS IgD MFI - decreased
FACS IgD+ B cell percentage - decreased
FACS IgM+ B cells - decreased
FACS macrophages - increased
FACS naive CD4 T cells in CD4 T cells - decreased
FACS naive CD8 T cells in CD8 T cells - decreased
FACS neutrophils - increased
FACS NK cells - increased
OVA-specific IgE - increased
T-dependent humoral response defect- decreased antibody response to OVA+ alum immunization
T-dependent humoral response defect- decreased antibody response to rSFV
total IgE level - increased
T ⇒ C missense probably damaging 1.000
10 UTSW Smcr8 0.000 patriot 11 60777524-60788287 bp (+) 60778032 Autosomal Recessive (7;38)
Autosomal Semidominant (1;6)
0.957 2020-02-04
External Program
DSS: sensitive day 10
DSS: sensitive day 7
FACS B1a cells - increased
FACS B1a cells in B1 cells - increased
FACS B220 MFI - increased
FACS CD44+ CD4 MFI - increased
FACS CD44+ CD4 T cells - increased
FACS CD44+ CD8 MFI - increased
FACS CD44+ CD8 T cells - increased
FACS CD44+ T cells - increased
FACS CD44+ T MFI - increased
FACS CD8+ T cells - decreased
FACS CD8a+ DCs (gated in CD11c+ cells) - increased
FACS effector memory CD4 T cells in CD4 T cells - increased
FACS effector memory CD8 T cells in CD8 T cells - increased
FACS naive CD8 T cells in CD8 T cells - decreased
TLR signaling defect: hypersensitivity to CpG + IFNg
TLR signaling defect: hypersensitivity to R848
TLR signaling defect: TNF production by macrophages
total IgE level - increased
T ⇒ C missense probably damaging 1.000
11 UTSW Lig4 1.000 posey 8 9969049-9977686 bp (-) 9972955 Autosomal Recessive (16;134)
Autosomal Semidominant (2;8)
0.976 2019-12-05
External Program
FACS B cells - decreased
FACS CD4:CD8 - decreased
FACS CD4+ T cells - decreased
FACS CD4+ T cells in CD3+ T cells - decreased
FACS CD44+ CD4 MFI - increased
FACS CD44+ CD4 T cells - increased
FACS CD44+ CD8 MFI - increased
FACS CD44+ CD8 T cells - increased
FACS CD44+ T cells - increased
FACS CD44+ T MFI - increased
FACS CD8+ T cells - decreased
FACS CD8+ T cells in CD3+ T cells - increased
FACS central memory CD4 T cells in CD4 T cells - increased
FACS central memory CD8 T cells in CD8 T cells - increased
FACS effector memory CD4 T cells in CD4 T cells - increased
FACS effector memory CD8 T cells in CD8 T cells - increased
FACS IgD MFI - decreased
FACS IgD+ B cell percentage - decreased
FACS IgM MFI - decreased
FACS IgM+ B cells - decreased
FACS naive CD4 T cells in CD4 T cells - decreased
FACS naive CD8 T cells in CD8 T cells - decreased
FACS NK cells - increased
FACS T cells - decreased
T-dependent humoral response defect- decreased antibody response to OVA+ alum immunization
T ⇒ C missense probably damaging 1.000
12 UTSW Elmo1 0.000 Debil 13 20090596-20608353 bp (+) 20373161 Autosomal Dominant (2;10)
Autosomal Recessive (1;7), Autosomal Semidominant (3;11)
0.820 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
13 UTSW Ptpn6 0.509 Naphthalene 6 124720707-124738714 bp (-) 124721789 Autosomal Dominant (1;5)
Autosomal Recessive (1;4), Autosomal Semidominant (1;5)
0.273 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
14 UTSW Trpc1 0.152 Magnified 9 95705082-95750375 bp (-) 95726437 Autosomal Recessive (7;32)
Autosomal Semidominant (6;34)
0.548 2019-10-23
Diantha La Vine
Body Weight - increased
Body Weight (Female) - increased
Body Weight (Male) - increased
Body Weight (Z-score) - increased
Bone: Femur Length (AI, residual, female) - increased
Bone: Fore Hip Distance (AI) - increased
T ⇒ C missense probably damaging 1.000
15 UTSW Ptpn6 0.509 farfalla_notturna 6 124720707-124738714 bp (-) 124732435 Autosomal Recessive (17;126) 0.958 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
16 UTSW Rac2 0.000 bingo 15 78559167-78572783 bp (-) 78564968 Autosomal Recessive (1;6) 0.890 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
17 UTSW Dst 0.306 gobble 1 33908225-34308661 bp (+) 34165155 Autosomal Dominant (1;1)
Autosomal Recessive (6;23)
0.511 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
18 UTSW Tnfsf13b 0.083 Applecrisp 8 10006467-10039072 bp (+) 10031534 Autosomal Recessive (1;1)
Autosomal Semidominant (1;5)
0.955 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
19 UTSW Irf7 0.000 Houstonian 7 141262706-141266481 bp (-) 141264022 Autosomal Recessive (1;4) 0.256 2019-09-04
Anne Murray
Nlrc4 inflammasome: high response
T ⇒ C missense probably damaging 0.992
20 UTSW Lyst 0.209 Swallow 13 13590397-13778803 bp (+) 13757422 Autosomal Semidominant (2;11) 0.066 2019-09-04
Diantha La Vine
125-03 Response - decreased
phagocytosis in PECs - increased
T ⇒ C missense probably benign 0.004
21 UTSW Lyst 0.209 lightspeed 13 13590397-13778803 bp (+) 13740536 Autosomal Recessive (1;5) 0.409 2019-09-04
Diantha La Vine
MCMV susceptibility
T ⇒ C missense possibly damaging 0.908
22 UTSW Cd40 0.000 bluebonnet 2 165055627-165072948 bp (+) 165062301 Autosomal Recessive (2;12)
Autosomal Semidominant (1;3)
0.349 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
23 UTSW Card11 0.000 hubei 5 140872990-141000582 bp (-) 140906767 Autosomal Recessive (1;7) 0.158 2019-09-04
Diantha La Vine
FACS B1a cells - increased
T ⇒ C missense probably damaging 0.959
24 UTSW Dock2 0.000 liaoning 11 34226815-34783892 bp (-) 34708793 Autosomal Recessive (5;24) 0.926 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
25 UTSW Cacna2d2 0.878 hera 9 107399612-107529343 bp (+) 107513280 Autosomal Recessive (3;22) 0.736 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
26 UTSW Irf9 0.160 Long_lost 14 55603571-55610030 bp (+) 55605910 Autosomal Recessive (1;7)
Autosomal Semidominant (3;16)
0.427 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
27 UTSW Prkdc 0.955 screamer2 16 15637866-15842235 bp (+) 15652552 Autosomal Recessive (6;56) 0.934 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
28 UTSW Mlph 0.107 beau 1 90915085-90951142 bp (+) 90928122 Autosomal Recessive (1;4) 0.438 2019-09-04
Anne Murray
pigmentation
skin/coat/nails
T ⇒ C missense probably damaging 1.000
29 UTSW Tlr4 0.000 don_knotts 4 66827584-66930284 bp (+) 66841172 Unknown (1;0)
Autosomal Recessive (4;20)
0.198 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
30 UTSW Malt1 0.417 bryce_canyon 18 65430962-65478823 bp (+) 65462915 Autosomal Recessive (2;6)
Autosomal Semidominant (1;3)
0.174 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
31 UTSW Zap70 0.260 wanna2 1 36761798-36782818 bp (+) 36781412 Unknown (11;0)
Autosomal Dominant (4;8), Autosomal Recessive (9;86)
0.962 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
32 UTSW Gk5 0.000 barrener 9 96119362-96184608 bp (+) 96129096 Autosomal Recessive (4;23)
Autosomal Semidominant (1;4)
0.682 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
33 UTSW Pde6d 0.337 costume 1 86542994-86582629 bp (-) 86547526 Unknown (2;0)
Autosomal Recessive (4;23)
0.688 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
34 UTSW Egfr 0.927 set 11 16752203-16918158 bp (+) 16871881 Autosomal Recessive (2;8) 0.162 2019-09-04
Anne Murray
30 min GTT hypoglycemic (male)
skin/coat/nails
T ⇒ C splice site 6 bp probably benign
35 UTSW Galc 0.000 Crabby2 12 98202294-98259459 bp (-) 98234266 Autosomal Recessive (1;7)
Autosomal Semidominant (2;14)
0.847 2019-09-04
Diantha La Vine
Body Weight - decreased
Body Weight (Z-score) - decreased
OVA-specific IgE - increased
T ⇒ C missense probably damaging 1.000
36 UTSW Irf4 0.386 Honey2 13 30749226-30766976 bp (+) 30761490 Autosomal Dominant (1;7)
Autosomal Recessive (1;13), Autosomal Semidominant (1;9)
0.172 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
37 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
38 UTSW Lyst 0.209 vulpix 13 13590397-13778803 bp (+) 13696794 Autosomal Recessive (4;15) 0.593 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
39 UTSW 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
40 UTSW Ptpn6 0.509 candle 6 124720707-124738714 bp (-) 124728419 Autosomal Recessive (7;48)
Autosomal Semidominant (3;14)
0.881 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
41 UTSW Vldlr 0.323 spotty 19 27216484-27254231 bp (+) 27238792 Autosomal Recessive (2;17)
Autosomal Semidominant (1;5)
failed initial filter 2019-09-04
Anne Murray
vision/eye
T ⇒ C missense probably damaging 1.000
42 UTSW Zap70 0.260 mesa_verde 1 36761798-36782818 bp (+) 36779173 Autosomal Recessive (8;33) 0.873 2019-09-04
Diantha La Vine
FACS CD11b+ DCs (gated in CD11c+ cells) - decreased
FACS CD11c+ DCs - increased
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
43 UTSW Gsdmd 0.000 gasder 15 75862327-75867408 bp (+) 75864357 Autosomal Recessive (1;9) 0.247 2019-09-04
Anne Murray
Nlrc4 inflammasome: low response
T ⇒ C missense probably damaging 1.000
44 UTSW Card11 0.000 Tumnus 5 140872990-141000582 bp (-) 140885945 Autosomal Semidominant (1;7) 0.089 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
45 UTSW Prkdc 0.955 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
46 UTSW Prkdc 0.955 Screamer8 16 15637866-15842235 bp (+) 15719433 Unknown no linkage result 2019-09-04
Diantha La Vine
T ⇒ C missense probably benign 0.004
47 UTSW Klc1 0.375 dwarf 12 111758849-111807844 bp (+) 111795603 Autosomal Recessive (3;21) 0.586 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
48 UTSW Nlrp1a 0.123 watermelon 11 71092236-71144704 bp (-) 71122705 Autosomal Recessive (21;130) 0.900 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 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
49 UTSW Xrcc5 1.000 durio 1 72307421-72394952 bp (+) 72339029 Autosomal Dominant (1;5)
Autosomal Recessive (20;125), Autosomal Semidominant (1;4)
0.856 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
50 UTSW Stk4 0.000 hallon 2 164070322-164155524 bp (+) 164099827 Autosomal Recessive (28;318) 0.981 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
51 UTSW Oca2 0.229 hardy 7 56239760-56536518 bp (+) 56295460 Autosomal Recessive (2;10) 0.344 2019-09-04
Emre Turer
DSS: sensitive day 7
pigmentation
skin/coat/nails
T ⇒ C missense probably damaging 0.997
52 UTSW Rac2 0.000 Potter2 15 78559167-78572783 bp (-) 78565454 Autosomal Dominant (8;103)
Autosomal Recessive (6;57), Autosomal Semidominant (12;249)
0.838 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
53 UTSW Asf1b 0.000 contraire 8 83955507-83970197 bp (+) 83955911 Autosomal Recessive (3;14) 0.517 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
54 UTSW Cd40 0.000 noelle 2 165055627-165072948 bp (+) 165063563 Autosomal Recessive (3;35) 0.851 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
55 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
56 UTSW Card11 0.000 Dealer 5 140872990-141000582 bp (-) 140885877 Autosomal Semidominant (3;15) 0.831 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
57 UTSW Tnfrsf9 0.108 asilomar 4 150914562-150946102 bp (+) 150929874 Autosomal Recessive (7;36) 0.488 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
58 UTSW Muc2 0.107 nomoco 7 141690340-141754693 bp (+) 141753719 Autosomal Recessive (2;15) 0.638 2019-09-04
Anne Murray
DSS: sensitive day 10
DSS: sensitive day 7
T ⇒ C missense probably damaging 1.000
59 UTSW Stk4 0.000 ribeye 2 164070322-164155524 bp (+) 164079566 Autosomal Recessive (5;25) 0.978 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
60 UTSW Nlrp1a 0.123 dreary 11 71092236-71144704 bp (-) 71113640 Autosomal Recessive (10;54) 0.921 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
61 UTSW Ltbr 0.160 marine_blue 6 125306571-125313885 bp (-) 125312808 Autosomal Recessive (8;71)
Autosomal Semidominant (5;26)
0.887 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
62 UTSW Ctla4 0.153 complementary 1 60887000-60915832 bp (+) 60912491 Autosomal Recessive (3;44)
Autosomal Semidominant (4;23)
0.516 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
63 UTSW Il4ra 0.102 Lowe 7 125552120-125579474 bp (+) 125567221 Autosomal Dominant (1;2)
Autosomal Semidominant (1;5)
0.367 2019-09-04
Diantha La Vine
OVA-specific IgE - decreased
total IgE level - decreased
T ⇒ C missense probably damaging 1.000
64 UTSW Tnfrsf13c 0.239 Teton_range 15 82221743-82224369 bp (-) 82223154 Autosomal Recessive (1;5)
Autosomal Semidominant (1;9)
0.443 2019-09-04
Anne Murray
FACS B cells - decreased
FACS B:T cells - decreased
T ⇒ C missense probably damaging 0.979
65 UTSW Pax5 1.000 k2 4 44524757-44710487 bp (-) 44697630 Autosomal Recessive (1;4)
Autosomal Semidominant (1;4)
0.835 2019-09-04
Diantha La Vine
FACS B220 MFI - decreased
FACS IgD MFI - decreased
T ⇒ C missense probably damaging 1.000
66 UTSW Pax5 1.000 Glacier3 4 44524757-44710487 bp (-) 44679526 Autosomal Dominant (1;4) 0.593 2019-09-04
Diantha La Vine
FACS IgD MFI - decreased
T ⇒ C missense probably damaging 0.995
67 UTSW Dclre1c 0.312 Chairy 2 3424131-3464130 bp (+) 3452863 Autosomal Dominant (1;4)
Autosomal Recessive (9;49), Autosomal Semidominant (5;20)
0.921 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
68 UTSW Lig4 1.000 posey2 8 9969049-9977686 bp (-) 9971585 Autosomal Recessive (3;17) 0.316 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
69 UTSW 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
70 UTSW Rasgrp1 0.241 Haddock 2 117279993-117343001 bp (-) 117291895 Autosomal Dominant (2;17) 0.859 2019-09-04
Diantha La Vine
FACS CD44+ CD4 MFI - increased
FACS CD44+ T MFI - increased
T ⇒ C missense probably damaging 0.989
71 UTSW Irf8 0.000 gemini2 8 120736358-120756694 bp (+) 120753707 Autosomal Recessive (3;23)
Autosomal Semidominant (1;5)
0.545 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
72 UTSW Prkdc 0.955 Bushtit 16 15637866-15842235 bp (+) 15752764 Autosomal Semidominant (1;4) 0.638 2019-09-04
Diantha La Vine
FACS B1 cells - decreased
T ⇒ C missense probably damaging 0.966
73 UTSW Atm 0.914 Strato 9 53439149-53536740 bp (-) 53503018 Autosomal Semidominant (1;4) 0.608 2019-09-04
Diantha La Vine
FACS CD44+ CD8 MFI - increased
T ⇒ C missense probably damaging 0.997
74 UTSW Dock2 0.000 Landing 11 34226815-34783892 bp (-) 34714501 Autosomal Dominant (2;8) 0.375 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
75 UTSW Dock8 0.074 Guardate 19 24999529-25202432 bp (+) 25149831 Autosomal Dominant (1;4) 0.535 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
76 UTSW Hcn2 0.000 asombrarse 10 79716634-79736108 bp (+) 79724611 Autosomal Recessive (4;19) 0.969 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
77 UTSW Itgb2 0.284 Only_just 10 77530252-77565708 bp (+) 77549968 Autosomal Semidominant (3;12) 0.770 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
78 UTSW Klhl6 0.067 Ascension 16 19946496-19983037 bp (-) 19947098 Autosomal Recessive (1;4)
Autosomal Semidominant (1;4)
0.882 2019-09-04
Diantha La Vine
FACS B1 cells - increased
FACS CD44+ CD8 T cells - increased
T ⇒ C missense probably damaging 0.998
79 UTSW Prkdc 0.955 updock 16 15637866-15842235 bp (+) 15795094 Autosomal Recessive (1;4) 0.613 2019-09-04
Diantha La Vine
post-MCMV FACS pDCs - increased
T ⇒ C missense probably benign 0.000
80 UTSW Prkdc 0.955 Elmer_fudd 16 15637866-15842235 bp (+) 15808058 Autosomal Dominant (1;4) 0.780 2019-09-04
Diantha La Vine
FACS effector memory CD4 T cells in CD4 T cells - increased
T ⇒ C missense probably benign 0.006
81 UTSW Ptpn6 0.509 caterpillar 6 124720707-124738714 bp (-) 124724984 Autosomal Recessive (2;9) 0.736 2019-09-04
Anne Murray
FACS CD44+ CD8 MFI - increased
FACS CD44+ T MFI - increased
T ⇒ C missense probably benign 0.000
82 UTSW Rasgrp1 0.241 sea_bass 2 117279993-117343001 bp (-) 117282654 Autosomal Recessive (1;4) 0.704 2019-09-04
Anne Murray
FACS NK cells - increased
T ⇒ C missense probably benign 0.023
83 UTSW Trpc1 0.152 Enlarged 9 95705082-95750375 bp (-) 95721471 Autosomal Semidominant (1;5) 0.709 2019-09-04
Anne Murray
Body Weight (Female) - increased
T ⇒ C critical splice acceptor site probably null
84 UTSW Dock2 0.000 Slip 11 34226815-34783892 bp (-) 34294286 Autosomal Dominant (4;18) 0.477 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
85 UTSW Dock2 0.000 skiff 11 34226815-34783892 bp (-) 34262388 Autosomal Recessive (2;9)
Autosomal Semidominant (1;5)
0.311 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
86 UTSW Themis 0.146 six_flags 10 28668360-28883818 bp (+) 28781907 Autosomal Recessive (18;289)
Autosomal Semidominant (1;4)
0.879 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
87 UTSW Prkdc 0.955 crackle 16 15637866-15842235 bp (+) 15786050 Autosomal Recessive (22;331) 0.926 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
88 UTSW Dock8 0.074 warts_and_all 19 24999529-25202432 bp (+) 25169501 Autosomal Recessive (15;109)
Autosomal Semidominant (1;4)
0.766 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
89 UTSW Prkcb 0.000 Mesopotamia 7 122288751-122634402 bp (+) 122289514 Autosomal Dominant (1;5)
Autosomal Recessive (1;3), Autosomal Semidominant (5;43)
0.929 2019-09-04
Anne Murray
FACS B:T cells - decreased
FACS B1 cells - decreased
FACS CD4+ T cells - increased
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
90 UTSW Nfkb2 0.547 lolita 19 46304737-46312090 bp (+) 46307720 Autosomal Recessive (15;213)
Autosomal Semidominant (1;14)
0.955 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
91 UTSW 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
92 UTSW Prkdc 0.955 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
93 UTSW Rorc 0.803 chestnut 3 94372794-94398276 bp (+) 94377609 Autosomal Recessive (5;26)
Autosomal Semidominant (3;14)
0.688 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
94 UTSW Ltbp3 0.211 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
95 APN Dock8 0.074 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
96 APN Dock8 0.074 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
97 UTSW Scn10a 0.201 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
98 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
99 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
100 UTSW Fasl 0.448 riogrande 1 161780689-161788495 bp (-) 161788164 Autosomal Recessive (1;4) 0.102 2019-04-17
Anne Murray
T-dependent humoral response defect- decreased antibody response to rSFV
T ⇒ C missense probably benign 0.000
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