Phenotypic Mutations

20 mutations affecting 17 genes are currently displayed.

Mutations Mapped and Identified Based on Phenotype
[records 1 to 20 of 20] per page Full List
 




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Verification Probability

Phenotypic Category

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1 UTSW Tap1 0.000 rose2 17 34187553-34197225 bp (+) 34194941 Autosomal Dominant (2;9)
Autosomal Recessive (6;35), Autosomal Semidominant (1;6)
0.977 2019-09-04
Diantha La Vine
FACS CD4:CD8 - increased
MCMV susceptibility
post-MCMV FACS CD4:CD8 - increased
post-MCMV FACS CD4+ T cells - decreased
post-MCMV FACS CD44+ CD8 T cells - decreased
post-MCMV FACS CD44+ T cells - decreased
post-MCMV FACS CD8+ T cells - decreased
post-MCMV FACS IgM+ B cells - decreased
post-MCMV FACS T cells - decreased
T ⇒ G missense probably damaging 1.000
2 UTSW Atp7b 0.673 daffodil 8 21992785-22060305 bp (-) 21998266 Unknown (1;0) failed initial filter 2019-09-04
Anne Murray
liver/biliary system
MTT Value of PECs - decreased
T ⇒ G missense probably damaging 1.000
3 UTSW Fasl 0.380 riogrande2 1 161780689-161788495 bp (-) 161787138 Autosomal Recessive (1;6) 0.167 2019-09-04
Anne Murray
T-dependent humoral response defect- decreased antibody response to rSFV
T ⇒ G missense probably benign 0.001
4 UTSW Rac2 0.000 Big_bend 15 78559167-78572783 bp (-) 78565945 Autosomal Dominant (2;3)
Autosomal Recessive (9;19), Autosomal Semidominant (2;10)
0.818 2019-09-04
Diantha La Vine
FACS B:T cells - increased
FACS B1 cells - decreased
FACS B1a cells - decreased
FACS B1a cells in B1 cells - decreased
FACS B1b cells - increased
FACS B1b cells in B1 cells - increased
FACS CD4:CD8 - increased
FACS CD8+ T cells - decreased
T-independent B cell response defect- decreased TNP-specific IgM to TNP-Ficoll immunization
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 ⇒ G missense possibly damaging 0.955
5 UTSW
has video
Psap 1.000 twerk 10 60277627-60302597 bp (+) 60300851 Autosomal Dominant (1;1)
Autosomal Recessive (1;3)
failed initial filter 2019-09-04
Anne Murray
behavior/neurological
T ⇒ G missense probably damaging 1.000
6 UTSW Dock2 0.000 capitol_reef 11 34226815-34783892 bp (-) 34294170 Autosomal Recessive (8;53) 0.934 2019-09-04
Diantha La Vine
FACS CD4+ T cells in CD3+ T cells - decreased
FACS CD8+ T cells in CD3+ T cells - increased
OVA-specific IgE - increased
resistance to B10-F16 melanoma - decreased
total IgE level - increased
T ⇒ G critical splice acceptor site probably null
7 UTSW Dock2 0.000 Wharf 11 34226815-34783892 bp (-) 34732371 Autosomal Dominant (1;3) 0.477 2019-09-04
Diantha La Vine
FACS NK cells - increased
T ⇒ G missense possibly damaging 0.813
8 UTSW Ikbkb 1.000 Baby 8 22659212-22706589 bp (-) 22675036 Autosomal Dominant (1;7) 0.096 2019-09-04
Anne Murray
FACS central memory CD4 T cells in CD4 T cells - decreased
MCMV susceptibility
post-MCMV FACS B1a cells in B1 cells - decreased
post-MCMV FACS B1b cells in B1 cells - increased
post-MCMV FACS CD44+ CD4 MFI - decreased
post-MCMV FACS CD44+ CD8 MFI - decreased
post-MCMV FACS CD44+ CD8 T cells - decreased
post-MCMV FACS CD44+ T MFI - decreased
post-MCMV FACS CD8a+ DCs (gated in CD11c+ cells) - increased
post-MCMV FACS effector memory CD4 T cells in CD4 T cells - decreased
post-MCMV FACS effector memory CD8 T cells in CD8 T cells - decreased
TLR signaling defect: hyposensitivity to MALP2
T ⇒ G missense probably damaging 0.998
9 UTSW Dock2 0.000 Harborside 11 34226815-34783892 bp (-) 34262445 Autosomal Semidominant (2;9) 0.337 2019-09-04
Anne Murray
FACS CD8+ T cells - increased
FACS CD8+ T cells in CD3+ T cells - increased
T ⇒ G missense probably benign 0.000
10 UTSW Nlrp3 0.101 Park6 11 59541568-59566956 bp (+) 59549036 Autosomal Dominant (2;15) 0.914 2019-01-29
Diantha La Vine
NALP3 inflammasome signaling defect
NLRP3 inflammasome: low response
T ⇒ G missense probably damaging 0.999
11 UTSW Nlrp3 0.101 nd1 11 59541568-59566956 bp (+) 59565974 Unknown (1;0) no linkage results 2019-01-29
Diantha La Vine
immune system
NALP3 inflammasome signaling defect
T ⇒ G missense probably benign 0.450
12 UTSW
has photo
Lyst 0.299 charlotte_gray 13 13590397-13778803 bp (+) 13602026 Unknown no linkage results 2018-08-02
Diantha La Vine
pigmentation
skin/coat/nails
T ⇒ G intron probably benign
13 UTSW
has photo
Slc45a2 0.084 yuki 15 11000721-11029233 bp (+) 11001092 Unknown no linkage results 2018-08-01
Diantha La Vine
pigmentation
skin/coat/nails
T ⇒ G missense probably damaging 1.000
14 UTSW
has photo
Spink5 1.000 crusty2 18 43963235-44022501 bp (+) 43999935 Unknown (1;0) no linkage results 2018-05-22
Anne Murray
immune system
lethality-postnatal
skin/coat/nails
T ⇒ G splice site 6 bp probably benign
15 UTSW
has photo
Hr 0.000 prune 14 70552212-70573548 bp (+) 70571429 Unknown no linkage results 2018-03-02
Diantha La Vine
Body Weight (DSS Male) - decreased
DSS: sensitive day 10
DSS: sensitive day 7
FACS B cells - decreased
FACS B:T cells - decreased
FACS B1a cells - increased
FACS B1a cells in B1 cells - decreased
FACS B1b cells - increased
FACS B1b cells in B1 cells - increased
FACS B2 cells - decreased
FACS CD4:CD8 - decreased
FACS CD4+ T cells - decreased
FACS CD4+ T cells in CD3+ T cells - decreased
FACS CD44+ CD8 MFI - increased
FACS CD44+ CD8 T cells - decreased
FACS CD44+ T cells - decreased
FACS CD8+ T cells in CD3+ T cells - increased
FACS central memory CD8 T cells in CD8 T cells - increased
FACS IgD+ B cell percentage - decreased
FACS IgM MFI - increased
FACS IgM+ B cells - decreased
FACS macrophages - increased
FACS naive CD8 T cells in CD8 T cells - decreased
FACS neutrophils - increased
FACS T cells - decreased
skin/coat/nails
T ⇒ G missense probably damaging 1.000
16 UTSW Traf3 1.000 bananasplit 12 111166370-111267153 bp (+) 111262036 Autosomal Recessive (1;8) 0.401 2017-10-14
Katherine Timer
T-dependent humoral response defect- decreased antibody response to rSFV
T ⇒ G missense probably damaging 0.999
17 UTSW Rag2 0.191 snowcock 2 101624718-101632529 bp (+) 101630603 Autosomal Recessive (19;131)
Autosomal Semidominant (1;4)
0.766 2017-05-17
Anne Murray
FACS B cells - decreased
FACS B:T cells - decreased
FACS B1b cells - increased
FACS B2 cells - decreased
FACS B220 MFI - decreased
FACS CD11b+ DCs (gated in CD11c+ cells) - increased
FACS CD4+ T cells - decreased
FACS CD44+ CD4 MFI - increased
FACS CD44+ CD8 MFI - increased
FACS CD8+ T cells - decreased
FACS IgD MFI - decreased
FACS IgD+ B cell percentage - decreased
FACS IgM+ B cells - decreased
FACS macrophages - increased
FACS neutrophils - increased
FACS T cells - decreased
NALP3 inflammasome signaling defect
NLRP3 inflammasome: high response
T-dependent humoral response defect- decreased antibody response to OVA+ alum immunization
T-dependent humoral response defect- decreased antibody response to rSFV
T-independent B cell response defect- decreased TNP-specific IgM to TNP-Ficoll immunization
T ⇒ G missense probably damaging 0.999
18 UTSW Nfkbid 0.090 bumble 7 30421732-30428746 bp (+) 30425411 Unknown (2;0) no linkage results 2017-03-28
Katherine Timer
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
T ⇒ G critical splice donor site 2 bp probably benign
19 APN Rc3h1 0.353 sanroque 1 160906418-160974978 bp (+) 160940830 Unknown no linkage results 2016-05-13
Peter Jurek
autoimmunity
immune system
T ⇒ G synonymous probably benign
20 UTSW Cryaa 0.000 L1n 17 31677933-31681724 bp (+) 31681025 Unknown no linkage results 2016-05-13
Stephen Lyon
vision/eye
T ⇒ G missense probably damaging 1.000
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