Phenotypic Mutations

136 mutations affecting 101 genes are currently displayed.

Mutations Mapped and Identified Based on Phenotype
[records 1 to 100 of 136] per page Full List
 




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Verification Probability

Phenotypic Category

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1 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
2 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
3 UTSW Pik3r1 0.000 anubis 13 101680563-101768217 bp (-) 101702776 Unknown (3;0)
Autosomal Recessive (9;54), Autosomal Semidominant (1;4)
0.989 2020-02-14
External Program
FACS B cells - decreased
FACS B:T cells - decreased
FACS B1 cells - decreased
FACS B220 MFI - decreased
FACS CD11b+ DCs (gated in CD11c+ cells) - increased
FACS CD4+ T cells - increased
FACS IgD+ B cell percentage - decreased
FACS IgM MFI - increased
FACS IgM+ B cells - decreased
IgE response to a Cysteine Protease (Papain) - increased
OVA-specific IgE - increased
A ⇒ T nonsense probably null
4 UTSW Jak3 0.721 thistle 8 71676296-71690575 bp (+) 71685383 Unknown (2;0)
Autosomal Recessive (31;312), Autosomal Semidominant (1;4)
0.971 2020-01-15
Eva Marie Y. Moresco
Body Weight (DSS Female) - decreased
FACS B cells - decreased
FACS B:T cells - decreased
FACS B1 cells - decreased
FACS CD11b+ DCs (gated in CD11c+ cells) - decreased
FACS CD11c+ DCs - increased
FACS CD4:CD8 - increased
FACS CD4+ T cells - decreased
FACS CD44+ CD4 T cells - decreased
FACS CD44+ T cells - decreased
FACS CD44+ T MFI - increased
FACS CD8+ T cells - decreased
FACS CD8+ T cells in CD3+ T cells - decreased
FACS CD8a+ DCs (gated in CD11c+ cells) - increased
FACS effector memory CD8 T cells in CD8 T cells - increased
FACS IgD+ B cell percentage - decreased
FACS IgM+ B cells - decreased
FACS macrophages - increased
FACS naive CD4 T cells in CD4 T cells - decreased
FACS naive CD8 T cells in CD8 T cells - decreased
FACS NK cells - decreased
FACS NK1.1+ T cells - decreased
FACS T cells - decreased
IgE response to a Cysteine Protease (Papain) - decreased
IgG1 response to a Cysteine Protease (Papain) - decreased
impaired response to dsDNA- type I IFN production by macrophages
ratio of OVA-specific IgE over the total IgE - increased
T-dependent humoral response defect- decreased antibody response to OVA+ alum immunization
T-dependent humoral response defect- decreased antibody response to rSFV
T-independent B cell response defect- decreased TNP-specific IgM to TNP-Ficoll immunization
total IgE level - decreased
A ⇒ T critical splice acceptor site probably null
5 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
6 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
7 UTSW
has video
Slc26a4 0.000 cul-de-sac 12 31519827-31559969 bp (-) 31525568 Autosomal Recessive (2;9) 0.666 2019-09-04
Emre Turer
behavior/neurological
DSS: sensitive day 10
hearing/vestibular/ear
A ⇒ T nonsense probably null
8 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
9 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
10 UTSW Mapk3 0.000 wabasha 7 126759601-126765819 bp (+) 126763512 Autosomal Recessive (2;10) 0.524 2019-09-04
Peter Jurek
NALP3 inflammasome signaling defect
NLRP3 inflammasome: low response
A ⇒ T nonsense probably null
11 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
12 UTSW Col3a1 0.835 Kraken 1 45311538-45349706 bp (+) 45327866 Autosomal Recessive (2;7) 0.430 2019-09-04
Anne Murray
DSS: sensitive day 10
DSS: sensitive day 7
A ⇒ T splice site 3 bp probably null
13 UTSW Grm7 0.000 shaky 6 110645581-111567230 bp (+) 111495791 Autosomal Recessive (1;2) failed initial filter 2019-09-04
Anne Murray
behavior/neurological
limbs/digits/tail phenotype
nervous system
A ⇒ T nonsense probably null
14 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
15 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
16 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
17 UTSW Nedd9 0.000 hebei 13 41309581-41487362 bp (-) 41338979 Autosomal Recessive (5;29) 0.771 2019-09-04
External Program
FACS B1a cells in B1 cells - decreased
MCMV susceptibility
post-MCMV FACS B1a cells in B1 cells - decreased
post-MCMV FACS B1b cells in B1 cells - increased
A ⇒ T nonsense probably null
18 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
19 UTSW Tlr4 0.000 bugsy 4 66827584-66930284 bp (+) 66839254 Autosomal Recessive (3;27) 0.956 2019-09-04
Katherine Timer
LPS-induced Necroptosis - decreased
Macrophage necroptosis: low
TLR signaling defect: hyposensitivity to LPS
TLR signaling defect: TNF production by macrophages
A ⇒ T nonsense probably null
20 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
21 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
22 UTSW Slfn2 0.061 elektra2 11 83065112-83070678 bp (+) 83069564 Autosomal Recessive (1;5) 0.031 2019-09-04
Anne Murray
T-dependent humoral response defect- decreased antibody response to rSFV
A ⇒ T missense probably benign 0.045
23 UTSW
has photo
Tmprss6 0.070 cubone 15 78439667-78468634 bp (-) 78446657 Autosomal Recessive (1;8) 0.345 2019-09-04
Anne Murray
growth/size
skin/coat/nails
A ⇒ T splice site probably null
24 UTSW Cr2 0.151 Pillar 1 195136811-195176716 bp (-) 195155888 Autosomal Semidominant (1;4) 0.087 2019-09-04
Anne Murray
T-dependent humoral response defect- decreased antibody response to rSFV
A ⇒ T nonsense probably null
25 UTSW Pappa2 0.000 Lilliputian2 1 158711727-158980490 bp (-) 158834918 Unknown (2;0)
Autosomal Dominant (2;8), Autosomal Semidominant (2;10)
0.957 2019-09-04
Diantha La Vine
Body Weight - decreased
Body Weight (DSS, z-score) - decreased
Body Weight (Female) - decreased
Body Weight (Z-score) - decreased
growth/size
A ⇒ T nonsense probably null
26 UTSW Myo1d 0.000 whisper2 11 80482126-80780025 bp (-) 80666578 Autosomal Recessive (2;11) 0.893 2019-09-04
Anne Murray
DSS: sensitive day 10
DSS: sensitive day 7
A ⇒ T missense probably damaging 1.000
27 UTSW Mdm4 1.000 Sun_island 1 132959484-133030561 bp (-) 133012651 Autosomal Dominant (4;37) 0.989 2019-09-04
Diantha La Vine
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
A ⇒ T missense probably damaging 1.000
28 UTSW Tlr4 0.000 Guardiola 4 66827584-66930284 bp (+) 66839303 Autosomal Recessive (2;10)
Autosomal Semidominant (3;19)
0.947 2019-09-04
Katherine Timer
LPS-induced Necroptosis - decreased
Macrophage necroptosis: low
Nlrc4 inflammasome: low response
TLR signaling defect: hyposensitivity to LPS
TLR signaling defect: TNF production by macrophages
A ⇒ T missense probably damaging 1.000
29 UTSW Ppp3cb 0.000 everglades 14 20499364-20546573 bp (-) 20530948 Autosomal Recessive (10;61)
Autosomal Semidominant (3;15)
0.976 2019-09-04
Diantha La Vine
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 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 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
IgG1 response to a Cysteine Protease (Papain) - decreased
OVA-specific IgE - increased
T-dependent humoral response defect- decreased antibody response to OVA+ alum immunization
Total IgE After 2nd OVA/Alum Challenge (day 7) - increased
total IgE level - increased
A ⇒ T missense probably damaging 0.997
30 UTSW
has photo
Adamts20 0.164 poliwag 15 94270163-94465418 bp (-) 94394622 Unknown no linkage result 2019-09-04
Diantha La Vine
A ⇒ T nonsense probably null
31 UTSW Ebf1 0.904 Crater_lake 11 44617317-45008091 bp (+) 44972908 Autosomal Dominant (8;57) 0.949 2019-09-04
Diantha La Vine
FACS B cells - decreased
FACS B:T 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
A ⇒ T nonsense probably null
32 UTSW Gys2 0.263 embittered 6 142422613-142473109 bp (-) 142454484 Autosomal Recessive (1;4) failed initial filter 2019-09-04
Anne Murray
30 min GTT hyperoglycemic (female)
A ⇒ T missense possibly damaging 0.915
33 UTSW Gck 1.000 Tootsie 11 5900820-5950081 bp (-) 5909150 Autosomal Dominant (2;10) failed initial filter 2019-09-04
Anne Murray
30 min GTT hyperoglycemic (female)
A ⇒ T missense possibly damaging 0.633
34 UTSW Ppp3cb 0.000 Redwood 14 20499364-20546573 bp (-) 20509440 Autosomal Semidominant (2;11) 0.979 2019-09-04
Diantha La Vine
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 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 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
IgG1 response to a Cysteine Protease (Papain) - decreased
OVA-specific IgE - increased
T-dependent humoral response defect- decreased antibody response to OVA+ alum immunization
Total IgE After 2nd OVA/Alum Challenge (day 7) - increased
total IgE level - increased
A ⇒ T missense probably damaging 0.998
35 UTSW Prkdc 0.947 screamer5 16 15637866-15842235 bp (+) 15687404 Autosomal Recessive (1;6) 0.492 2019-09-04
Diantha La Vine
post-MCMV FACS CD44+ T cells - increased
A ⇒ T missense probably benign 0.000
36 UTSW Prkdc 0.947 screamer10 16 15637866-15842235 bp (+) 15768025 Unknown no linkage result 2019-09-04
Diantha La Vine
A ⇒ T missense probably damaging 0.981
37 UTSW Prkdc 0.947 Screamer9 16 15637866-15842235 bp (+) 15734922 Autosomal Dominant (1;4)
Autosomal Semidominant (1;4)
0.477 2019-09-04
Diantha La Vine
Body Weight (Female) - decreased
FACS CD8+ T cells in CD3+ T cells - decreased
A ⇒ T missense probably benign 0.012
38 UTSW
has photo
Oca2 0.223 narwhal 7 56239760-56536518 bp (+) 56295498 Unknown no linkage result 2019-09-04
Diantha La Vine
A ⇒ T nonsense probably null
39 UTSW Tlr3 0.082 Ultraman 8 45395665-45411080 bp (-) 45402981 Unknown (1;0)
Autosomal Semidominant (2;27)
0.240 2019-09-04
Anne Murray
TLR signaling defect: hyposensitivity to poly I:C
TLR signaling defect: hyposensitivity to poly I:C + IFNg
TLR signaling defect: TNF production by macrophages
A ⇒ T missense probably damaging 1.000
40 UTSW Hcn1 0.000 Thump 13 117602320-117987418 bp (+) 117873905 Autosomal Recessive (1;8)
Autosomal Semidominant (2;16)
no linkage result 2019-09-04
Anne Murray
A ⇒ T nonsense probably null
41 UTSW Irs1 0.574 runt2 1 82233101-82291416 bp (-) 82286967 Autosomal Recessive (9;51) 0.925 2019-09-04
Anne Murray
Body Weight - decreased
Body Weight (DSS Female) - decreased
Body Weight (DSS Male) - decreased
Body Weight (DSS) - decreased
Body Weight (DSS, z-score) - decreased
Body Weight (Female) - decreased
Body Weight (Male) - decreased
Body Weight (Z-score) - decreased
A ⇒ T nonsense probably null
42 UTSW Clcnka 0.000 free_trade 4 141384610-141398724 bp (-) 141395158 Autosomal Recessive (4;29) 0.840 2019-09-04
Anne Murray
DSS: sensitive day 10
DSS: sensitive day 7
FACS CD44+ CD8 MFI - increased
FACS central memory CD8 T cells in CD8 T cells - increased
A ⇒ T nonsense probably null
43 UTSW Stat1 0.000 roccoco 1 52119440-52161865 bp (+) 52123209 Autosomal Recessive (11;109) 0.966 2019-09-04
Diantha La Vine
CD8 response - decreased
CTL killing - decreased
CTL killing dominant epitope - decreased
FACS CD44+ CD4 MFI - increased
FACS CD44+ CD4 T cells - increased
FACS CD44+ CD8 MFI - increased
FACS CD44+ T cells - 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
A ⇒ T missense probably damaging 1.000
44 UTSW Plcg2 0.000 Poseidon2 8 117498291-117635142 bp (+) 117577874 Autosomal Semidominant (2;13) 0.613 2019-09-04
Diantha La Vine
Blood Analysis MCHC - decreased
Blood Analysis Platelet Count - decreased
FACS B1 cells - decreased
FACS B1a cells - decreased
FACS B1a cells in B1 cells - decreased
FACS B1b cells in B1 cells - decreased
FACS B2 cells - increased
FACS CD44+ CD4 T cells - decreased
FACS CD44+ CD8 MFI - decreased
FACS CD44+ CD8 T cells - decreased
FACS CD44+ T cells - decreased
FACS CD8a+ DCs (gated in CD11c+ cells) - 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 MFI - decreased
FACS IgM MFI - increased
FACS IgM+ B cells - decreased
FACS naive CD8 T cells in CD8 T cells - decreased
IgE response to a Cysteine Protease (Papain) - increased
LPS-induced Necroptosis - decreased
Macrophage necroptosis: low
NLRP3 inflammasome: high response
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
TLR signaling defect: hypersensitivity to CpG + IFNg
TLR signaling defect: hyposensitivity to R848
A ⇒ T missense possibly damaging 0.800
45 UTSW Zap70 0.204 wanna3 1 36761798-36782818 bp (+) 36778218 Autosomal Recessive (25;438)
Autosomal Semidominant (1;4)
0.946 2019-09-04
Diantha La Vine
CD8 response - decreased
CTL killing - decreased
CTL killing dominant epitope - decreased
FACS B cells - increased
FACS B:T cells - increased
FACS B1 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+ CD4 T cells - decreased
FACS CD44+ CD8 MFI - increased
FACS CD44+ CD8 T cells - decreased
FACS CD44+ T cells - decreased
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+ B cell percentage - increased
FACS IgM+ B 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
OVA-specific IgE - decreased
T-dependent humoral response defect- decreased antibody response to OVA+ alum immunization
T-dependent humoral response defect- decreased antibody response to rSFV
A ⇒ T missense probably damaging 0.994
46 UTSW Nfkb1 0.000 Roomba 3 135584655-135691547 bp (-) 135612412 Autosomal Recessive (1;4)
Autosomal Semidominant (4;22)
0.973 2019-09-04
Diantha La Vine
DSS: sensitive day 10
FACS central memory CD8 T cells in CD8 T cells - increased
T-dependent humoral response defect- decreased antibody response to rSFV
Total IgE After 2nd OVA/Alum Challenge (day 7) - decreased
total IgE level - decreased
A ⇒ T critical splice donor site probably null
47 UTSW Vav1 0.270 tardive 17 57279100-57328031 bp (+) 57303079 Autosomal Recessive (18;210)
Autosomal Semidominant (2;23)
0.988 2019-09-04
Diantha La Vine
FACS B:T cells - increased
FACS B1 cells - 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 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 IgD MFI - decreased
FACS IgM MFI - 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
ratio of OVA-specific IgE over the total IgE - increased
T-dependent humoral response defect- decreased antibody response to OVA+ alum immunization
total IgE level - decreased
A ⇒ T nonsense probably null
48 UTSW Stk4 0.000 stryker 2 164070322-164155524 bp (+) 164083688 Autosomal Recessive (25;234)
Autosomal Semidominant (2;12)
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
A ⇒ T nonsense probably null
49 UTSW Trp53bp1 0.000 concur 2 121193281-121271407 bp (-) 121270319 Autosomal Dominant (1;4)
Autosomal Recessive (1;4)
0.809 2019-09-04
Diantha La Vine
FACS IgD MFI - decreased
A ⇒ T splice site probably null
50 UTSW Map3k8 0.000 Flojo 18 4331327-4353015 bp (-) 4339548 Autosomal Semidominant (2;10) 0.808 2019-09-04
Anne Murray
TLR signaling defect: hyposensitivity to LPS
TLR signaling defect: TNF production by macrophages
A ⇒ T missense possibly damaging 0.947
51 UTSW Trp53bp1 0.000 verily 2 121193281-121271407 bp (-) 121211313 Autosomal Recessive (1;6)
Autosomal Semidominant (1;4)
0.627 2019-09-04
Diantha La Vine
FACS B2 cells - increased
FACS IgD MFI - decreased
A ⇒ T missense probably damaging 1.000
52 UTSW Pappa2 0.000 lilliputian3 1 158711727-158980490 bp (-) 158782403 Autosomal Recessive (4;20) 0.916 2019-09-04
Diantha La Vine
Body Weight - decreased
Body Weight (Z-score) - decreased
A ⇒ T splice site probably null
53 UTSW
has photo
Ap3b1 0.593 bella 13 94358960-94566317 bp (+) 94528257 Unknown no linkage result 2019-09-04
Anne Murray
A ⇒ T missense unknown
54 UTSW Diaph1 0.000 sheer 18 37843601-37935476 bp (-) 37896093 Autosomal Recessive (2;8)
Autosomal Semidominant (1;6)
0.876 2019-09-04
Diantha La Vine
FACS B:T cells - increased
FACS B1a cells in B1 cells - decreased
FACS CD4+ 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 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
MCMV susceptibility
A ⇒ T critical splice donor site probably benign
55 UTSW Siglecg 0.078 Shenandoah 7 43408204-43418358 bp (+) 43408802 Autosomal Semidominant (2;16) 0.526 2019-09-04
Diantha La Vine
FACS B1 cells - increased
FACS IgM MFI - decreased
A ⇒ T missense probably damaging 0.987
56 UTSW Bcl3 0.000 sunrise2 7 19808462-19822770 bp (-) 19809634 Autosomal Recessive (6;40) 0.927 2019-09-04
Diantha La Vine
FACS B1 cells - increased
FACS CD4:CD8 - decreased
FACS CD4+ T cells in CD3+ T cells - decreased
FACS CD8+ T cells in CD3+ T cells - increased
FACS IgD MFI - decreased
FACS IgM MFI - increased
A ⇒ T nonsense probably null
57 UTSW
has video
Galc 0.000 teeter 12 98202294-98259459 bp (-) 98259162 Autosomal Recessive (4;19)
Autosomal Semidominant (1;8)
0.268 2019-09-04
Diantha La Vine
behavior/neurological
growth/size
A ⇒ T missense probably damaging 0.995
58 UTSW Ptprc 0.000 Half_measure 1 138062861-138175708 bp (-) 138071249 Autosomal Dominant (3;13)
Autosomal Semidominant (3;13)
0.902 2019-09-04
Diantha La Vine
FACS CD44+ CD4 MFI - increased
FACS CD44+ T cells - increased
FACS CD44+ T MFI - increased
A ⇒ T missense probably damaging 0.984
59 UTSW Alms1 0.000 earthquake 6 85587531-85702753 bp (+) 85628735 Autosomal Recessive (33;231) 0.978 2019-09-04
Diantha La Vine
Body Weight - increased
Body Weight (Female) - increased
Body Weight (Male) - increased
Body Weight (Z-score) - increased
FACS CD8+ T cells in CD3+ T cells - increased
A ⇒ T nonsense probably null
60 UTSW Mc4r 0.090 Cetacean 18 66857715-66860472 bp (-) 66859180 Autosomal Recessive (1;4)
Autosomal Semidominant (10;57)
0.860 2019-09-04
Diantha La Vine
Body Weight - increased
Body Weight (Male) - increased
Body Weight (Z-score) - increased
A ⇒ T nonsense probably null
61 UTSW Tcf12 1.000 Poorly2 9 71842688-72111871 bp (-) 71858929 Autosomal Dominant (1;5)
Autosomal Recessive (1;4), Autosomal Semidominant (6;41)
0.773 2019-09-04
Diantha La Vine
FACS B:T cells - decreased
FACS B1 cells - decreased
FACS B220 MFI - increased
FACS CD4:CD8 - decreased
FACS CD4+ T cells in CD3+ T cells - decreased
FACS CD44+ CD8 MFI - increased
FACS CD44+ T cells - increased
FACS CD8+ T cells - increased
FACS CD8+ T cells in CD3+ T cells - increased
FACS central memory CD8 T cells in CD8 T cells - increased
FACS effector memory CD4 T cells in CD4 T cells - increased
FACS naive CD4 T cells in CD4 T cells - decreased
FACS naive CD8 T cells in CD8 T cells - decreased
FACS T cells - increased
T-independent B cell response defect- decreased TNP-specific IgM to TNP-Ficoll immunization
A ⇒ T missense probably damaging 0.997
62 UTSW
has video
Cdh23 0.675 hersey 10 60302748-60696490 bp (-) 60308036 Autosomal Recessive (8;45) 0.469 2019-09-04
Anne Murray
behavior/neurological
Body Weight - decreased
Body Weight (Z-score) - decreased
FACS CD44+ T cells - increased
A ⇒ T missense probably damaging 0.995
63 UTSW Ptprc 0.000 Guotie3 1 138062861-138175708 bp (-) 138078451 Autosomal Recessive (2;8)
Autosomal Semidominant (4;24)
0.864 2019-09-04
Diantha La Vine
FACS B1 cells - increased
FACS CD44+ CD8 MFI - increased
FACS central memory CD8 T cells in CD8 T cells - increased
FACS naive CD8 T cells in CD8 T cells - decreased
A ⇒ T missense possibly damaging 0.917
64 UTSW Dock2 0.000 wassup 11 34226815-34783892 bp (-) 34503413 Autosomal Dominant (1;5)
Autosomal Recessive (7;61), Autosomal Semidominant (6;61)
0.864 2019-09-04
Diantha La Vine
FACS B cells - decreased
FACS B1 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 CD8+ T cells - increased
FACS CD8+ T cells in CD3+ T cells - increased
FACS central memory CD8 T cells in CD8 T cells - increased
FACS effector memory CD4 T cells in CD4 T cells - increased
FACS naive CD4 T cells in CD4 T cells - decreased
FACS naive CD8 T cells in CD8 T cells - decreased
FACS NK cells - increased
FACS T cells - decreased
A ⇒ T missense probably damaging 0.999
65 UTSW Klhl6 0.094 Parula 16 19946496-19983037 bp (-) 19957043 Autosomal Semidominant (4;25) 0.762 2019-09-04
Diantha La Vine
FACS B1a cells - increased
FACS CD4+ T cells - increased
FACS CD8+ T cells - increased
FACS T cells - increased
A ⇒ T missense possibly damaging 0.555
66 UTSW Atm 0.893 osphere 9 53439149-53536740 bp (-) 53479673 Autosomal Recessive (4;18) 0.709 2019-09-04
Diantha La Vine
FACS B:T cells - increased
FACS B1 cells - increased
phagocytosis in PECs - decreased
A ⇒ T missense probably damaging 0.994
67 UTSW Dock2 0.000 pier 11 34226815-34783892 bp (-) 34689766 Autosomal Recessive (5;25) 0.944 2019-09-04
Diantha La Vine
FACS B1b cells in B1 cells - increased
FACS CD4:CD8 - decreased
FACS CD4+ T cells in CD3+ T cells - decreased
FACS CD44+ CD8 T cells - increased
FACS CD8+ T cells in CD3+ T cells - increased
A ⇒ T missense probably damaging 1.000
68 UTSW Klhl6 0.094 torres_del_paine 16 19946496-19983037 bp (-) 19948127 Autosomal Recessive (1;4) 0.720 2019-09-04
Diantha La Vine
FACS B1 cells - increased
A ⇒ T missense probably damaging 1.000
69 UTSW Nlrp3 0.101 Flogiston 11 59541568-59566956 bp (+) 59558448 Autosomal Dominant (2;8) 0.852 2019-09-04
Anne Murray
NALP3 inflammasome signaling defect
NLRP3 inflammasome: low response
A ⇒ T missense probably benign 0.002
70 UTSW Vav1 0.270 Belated 17 57279100-57328031 bp (+) 57301214 Autosomal Semidominant (1;5) 0.823 2019-09-04
Anne Murray
T-dependent humoral response defect- decreased antibody response to OVA+ alum immunization
A ⇒ T missense probably benign 0.057
71 UTSW Ptprc 0.000 chor_muang 1 138062861-138175708 bp (-) 138113562 Autosomal Recessive (5;82)
Autosomal Semidominant (9;66)
0.969 2019-09-04
Diantha La Vine
FACS B cells - decreased
FACS B:T cells - decreased
FACS B1 cells - increased
FACS B220 MFI - 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 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 NK cells - decreased
A ⇒ T critical splice donor site 2 bp probably null
72 UTSW Polm 0.000 lobet 11 5827860-5838016 bp (-) 5829491 Autosomal Recessive (2;13) 0.394 2019-09-04
Anne Murray
FACS B cells - decreased
FACS B:T cells - decreased
A ⇒ T missense probably damaging 1.000
73 UTSW Alms1 0.000 gut_check 6 85587531-85702753 bp (+) 85620369 Autosomal Recessive (3;13) failed initial filter 2019-09-04
Anne Murray
Body Weight - increased
Body Weight (Female) - increased
Body Weight (Male) - increased
Body Weight (Z-score) - increased
A ⇒ T nonsense probably null
74 UTSW
has video
Pcdh15 0.000 spaz 10 73099342-74649737 bp (+) 74210425 Unknown no linkage result 2019-07-25
Diantha La Vine
A ⇒ T missense probably damaging 1.000
75 UTSW Kit 0.960 pretty2 5 75574916-75656722 bp (+) 75649550 Unknown no linkage results 2019-06-23
Diantha La Vine
hematopoietic system
immune system
pigmentation
reproductive system
skin/coat/nails
A ⇒ T missense probably damaging 1.000
76 APN Ptprc 0.000 lochy 1 138062861-138175708 bp (-) 138083790 Unknown no linkage results 2019-06-06
Diantha La Vine
FACS B cells - decreased
FACS CD4+ T cells - decreased
FACS CD8+ T cells - decreased
hematopoietic system
immune system
A ⇒ T splice site probably benign
77 UTSW Dock2 0.000 frazz 11 34226815-34783892 bp (-) 34248572 Unknown (2;0) no linkage results 2019-05-21
Diantha La Vine
FACS B cells - decreased
immune system
T-dependent humoral response defect- decreased antibody response to rSFV
A ⇒ T critical splice donor site 2 bp probably benign
78 UTSW Dock2 0.000 frizz 11 34226815-34783892 bp (-) 34258184 Unknown (1;0) no linkage results 2019-05-21
Diantha La Vine
FACS B cells - decreased
FACS CD4+ T cells - decreased
FACS CD8+ T cells - decreased
immune system
T-dependent humoral response defect- decreased antibody response to rSFV
A ⇒ T splice site 11 bp probably benign
79 UTSW
has video
Atcay 0.112 wobbley 10 81204508-81230833 bp (-) 81220573 Unknown no linkage results 2019-04-18
Anne Murray
behavior/neurological
A ⇒ T intron 2 bp probably benign
80 UTSW
has video
Cars2 0.957 madcow 8 11513977-11550783 bp (-) 11526034 Unknown no linkage results 2019-04-18
Bruce Beutler
behavior/neurological
A ⇒ T missense probably damaging 1.000
81 UTSW Card11 0.000 king 5 140872990-141000582 bp (-) 140891080 Unknown (1;0) no linkage results 2019-04-16
Diantha La Vine
CTL killing - decreased
FACS NK cells - decreased
FACS NK1.1+ T cells - decreased
hematopoietic system
immune system
NK cell response - decreased
skin/coat/nails
A ⇒ T splice site probably benign
82 APN Card11 0.000 unmodulated 5 140872990-141000582 bp (-) 140897997 Unknown no linkage results 2019-04-16
Diantha La Vine
CD8 response - decreased
FACS NK cells - decreased
FACS NK1.1+ T cells - decreased
hematopoietic system
immune system
NK cell response - decreased
skin/coat/nails
A ⇒ T intron probably benign
83 UTSW Rag1 0.521 huckle 2 101638282-101649501 bp (-) 101641223 Unknown no linkage results 2019-03-21
Diantha La Vine
FACS B cells - decreased
FACS CD4+ T cells - decreased
FACS CD8+ T cells - decreased
immune system
A ⇒ T intron probably benign
84 UTSW Zap70 0.204 trebia 1 36761798-36782818 bp (+) 36781025 Unknown no linkage results 2019-03-05
Diantha La Vine
FACS CD4+ T cells - decreased
FACS CD8+ T cells - decreased
hematopoietic competition - disadvantage
immune system
A ⇒ T missense probably damaging 0.999
85 APN Zap70 0.204 murdock 1 36761798-36782818 bp (+) 36779704 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
A ⇒ T missense probably damaging 0.992
86 UTSW Rasgrp1 0.249 naejangsan 2 117279993-117343001 bp (-) 117291792 Autosomal Recessive (27;519)
Autosomal Semidominant (2;8)
0.983 2019-02-11
Diantha La Vine
FACS B cells - increased
FACS B:T cells - increased
FACS B1b cells - 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 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 neutrophils - increased
FACS NK cells - increased
FACS T cells - decreased
A ⇒ T nonsense probably null
87 UTSW Itgb2 0.330 joker 10 77530252-77565708 bp (+) 77549849 Unknown (2;0) no linkage results 2019-02-01
Diantha La Vine
hematopoietic system
immune system
NK cell response - decreased
A ⇒ T intron 2 bp probably benign
88 UTSW Tlr6 0.158 m2sd2 5 64952031-64960097 bp (-) 64954394 Unknown (1;0) no linkage results 2019-01-31
Stephen Lyon
immune system
TLR signaling defect: TNF production by macrophages
A ⇒ T nonsense
89 UTSW
has photo
Ptpn6 0.555 spin 6 124720707-124738714 bp (-) 124728559 Unknown no linkage results 2019-01-30
Diantha La Vine
hematopoietic system
immune system
A ⇒ T missense probably damaging 0.999
90 UTSW Nfkb1 0.000 Finlay 3 135584655-135691547 bp (-) 135595053 Unknown (1;0)
Autosomal Recessive (1;3), Autosomal Semidominant (2;8)
0.961 2019-01-28
Diantha La Vine
NALP3 inflammasome signaling defect
Nlrc4 inflammasome: low response
NLRP3 inflammasome: low response
T-dependent humoral response defect- decreased antibody response to rSFV
A ⇒ T nonsense probably null
91 UTSW Nek7 0.000 Cuties 1 138482875-138620141 bp (-) 138544242 Autosomal Semidominant (2;10) 0.844 2019-01-23
External Program
NALP3 inflammasome signaling defect
NLRP3 inflammasome: low response
A ⇒ T nonsense probably null
92 UTSW Tlr4 0.000 lps3 4 66827584-66930284 bp (+) 66841097 Unknown (1;0) no linkage results 2018-12-14
Diantha La Vine
immune system
TLR signaling defect: TNF production by macrophages
A ⇒ T missense probably damaging 0.998
93 UTSW Blnk 0.118 busy 19 40928927-40994535 bp (-) 40952391 Unknown (2;0) no linkage results 2018-10-25
Diantha La Vine
FACS B 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
A ⇒ T nonsense probably null
94 UTSW Apbb2 0.000 Dionysis 5 66298703-66618784 bp (-) 66452250 Autosomal Recessive (1;4)
Autosomal Semidominant (2;8)
0.575 2018-10-19
Diantha La Vine
30 min GTT hyperglycemic
30 min GTT hyperglycemic (male)
post-MCMV FACS effector memory CD8 T cells in CD8 T cells - increased
A ⇒ T missense probably damaging 0.986
95 UTSW Bach2 0.000 Magnificat 4 32238804-32586108 bp (+) 32563324 Autosomal Dominant (2;10)
Autosomal Semidominant (1;12)
0.259 2018-10-14
Anne Murray
FACS B1 cells - increased
FACS CD4:CD8 - decreased
FACS CD4+ T cells in CD3+ T cells - decreased
A ⇒ T missense probably damaging 1.000
96 UTSW Adamts20 0.164 splotch2 15 94270163-94465418 bp (-) 94335561 Unknown no linkage results 2018-10-05
Diantha La Vine
pigmentation
skin/coat/nails
A ⇒ T intron 8 bp probably benign
97 UTSW Ern2 0.100 ernie 7 122169893-122186207 bp (-) 122171661 Autosomal Recessive (2;19) 0.722 2018-08-21
Anne Murray
DSS: sensitive day 10
DSS: sensitive day 7
A ⇒ T critical splice donor site 2 bp probably null
98 UTSW
has photo
Slc45a2 0.084 Draco2 15 11000721-11029233 bp (+) 11000817 Autosomal Semidominant (1;2) failed initial filter 2018-08-01
Diantha La Vine
pigmentation
skin/coat/nails
A ⇒ T start codon destroyed probably benign 0.053
99 UTSW Tbk1 1.000 pioneer 10 121546455-121586787 bp (-) 121578690 Unknown no linkage results 2018-06-13
Anne Murray
impaired response to dsDNA- type I IFN production by macrophages
lethality-embryonic/perinatal
A ⇒ T missense probably damaging 0.995
100 UTSW Agtpbp1 0.749 drunk 13 59445742-59585227 bp (-) 59512323 Unknown no linkage results 2018-05-22
Anne Murray
behavior/neurological
A ⇒ T critical splice donor site 2 bp probably benign
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