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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1 UTSW Dock2 0.000 11 34226815-34783892 bp (-) 34262445 Autosomal Semidominant (2;9) not good candidate 2019-05-23
Anne Murray
 FACS CD8+ T cells - increased
 FACS CD8+ T cells in CD3+ T cells - increased
T ⇒ G missense probably benign 0.000
2 UTSW Dock2 0.000 11 34226815-34783892 bp (-) 34732371 Autosomal Dominant (2;7) excellent candidate (Recruited) 2019-05-21
Diantha La Vine
 FACS B1b cells - decreased
 FACS NK cells - increased
T ⇒ G missense possibly damaging 0.813
3 UTSW Dock2 0.000 11 34226815-34783892 bp (-) 34294170 Autosomal Recessive (7;42) excellent candidate 2019-05-21
Diantha La Vine
 FACS CD4+ T cells in CD3+ T cells - decreased
 FACS CD8+ T cells in CD3+ T cells - increased
 total IgE level - increased
T ⇒ G critical splice acceptor site probably null
4 UTSW Ikbkb 1.000 8 22659212-22706589 bp (-) 22675036 Autosomal Dominant (1;7) not good candidate 2019-05-14
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
5 UTSW Nlrp3 0.074 11 59541568-59566956 bp (+) 59549036 Autosomal Dominant (2;4) failed initial filter 2019-01-29
Diantha La Vine
 NALP3 inflammasome signaling defect
 NLRP3 inflammasome: low response
T ⇒ G missense probably damaging 0.999
6 UTSW Nlrp3 0.074 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
7 UTSW
has video
Psap 1.000 10 60277627-60302597 bp (+) 60300851 Autosomal Dominant (1;1)
 Autosomal Recessive (1;3)
not good candidate 2018-11-16
Anne Murray
 behavior/neurological
 fasting hyperglycemia
T ⇒ G missense probably damaging 1.000
8 UTSW
has photo
Lyst 0.478 13 13590397-13778803 bp (+) 13602026 Unknown no linkage results 2018-08-02
Diantha La Vine
 pigmentation
 skin/coat/nails
T ⇒ G intron probably benign
9 UTSW
has photo
Slc45a2 0.107 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
10 UTSW
has photo
Spink5 1.000 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
11 UTSW
has photo
Hr 0.000 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
12 UTSW Atp7b 0.658 8 21992785-22060305 bp (-) 21998266 Unknown (1;0) failed initial filter 2017-12-19
Anne Murray
 liver/biliary system
 MTT Value of PECs - decreased
T ⇒ G missense probably damaging 1.000
13 UTSW Tap1 0.000 17 34187553-34197225 bp (+) 34194941 Autosomal Dominant (2;9)
 Autosomal Recessive (6;35)

 Autosomal Semidominant (1;6)
potential candidate 2017-09-11
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
14 UTSW Rac2 0.000 15 78559167-78572783 bp (-) 78565945 Autosomal Dominant (1;2)
 Autosomal Recessive (3;9)

 Autosomal Semidominant (2;10)
excellent candidate 2017-08-09
Diantha La Vine
 FACS B1 cells - decreased
 FACS B1a cells - decreased
 FACS B1b cells - increased
 FACS B1b cells in B1 cells - increased
 FACS CD8+ T cells - decreased
 T-independent B cell response defect- decreased TNP-specific IgM to TNP-Ficoll immunization
T ⇒ G missense possibly damaging 0.955
15 UTSW Rag2 0.215 2 101624718-101632529 bp (+) 101630603 Autosomal Recessive (13;84)
 Autosomal Semidominant (1;4)
excellent candidate 2017-05-17
Anne Murray
 FACS B cells - decreased
 FACS B1b cells - increased
 FACS CD4+ T cells - decreased
 FACS CD44+ CD4 MFI - increased
 FACS CD44+ CD8 MFI - increased
 FACS CD8+ T cells - decreased
 FACS IgD+ B cell percentage - decreased
 FACS IgM+ B cells - decreased
 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
16 UTSW Traf3 1.000 12 111166370-111267153 bp (+) 111262036 Autosomal Recessive (2;12) excellent candidate 2017-03-29
Katherine Timer
 FACS naive CD8 T cells in CD8 T cells - decreased
 T-dependent humoral response defect- decreased antibody response to rSFV
T ⇒ G missense probably damaging 0.999
17 UTSW Nfkbid 0.126 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
18 APN Rc3h1 0.306 1 160906418-160974978 bp (+) 160940830 Unknown no linkage results 2016-05-13
Peter Jurek
 autoimmunity
 immune system
T ⇒ G synonymous probably benign
19 UTSW Fasl 0.496 1 161780689-161788495 bp (-) 161787138 Autosomal Recessive (1;6) potential candidate 2016-05-13
Anne Murray
 T-dependent humoral response defect- decreased antibody response to rSFV
T ⇒ G missense probably benign 0.001
20 UTSW Cryaa 0.000 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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