Phenotypic Mutations

6 mutations affecting 5 genes are currently displayed.

Mutations Mapped and Identified Based on Phenotype
[records 1 to 6 of 6] per page Full List
 
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1 UTSW Trp53bp1 0.000 2 121193281-121271407 bp (-) 121270319 Autosomal Dominant (1;4)
 Autosomal Recessive (1;4)
excellent candidate 2019-06-03
Diantha La Vine
 30 Min. Insulin (Male) - decreased
 FACS IgD MFI - decreased
A ⇒ T splice site probably null
2 UTSW Stat2 0.373 10 128270559-128292849 bp (+) 128281065 Autosomal Recessive (2;11) excellent candidate 2019-04-24
Diantha La Vine
 FACS CD44+ CD8 T cells - decreased
 FACS central memory CD8 T cells in CD8 T cells - decreased
T ⇒ A intron probably null
3 UTSW Card11 0.000 5 140872990-141000582 bp (-) 140883782 Autosomal Dominant (2;10)
 Autosomal Recessive (10;112)

 Autosomal Semidominant (5;51)
excellent candidate 2019-04-16
Diantha La Vine
 CD8 response - decreased
 CTL killing - decreased
 CTL killing dominant epitope - decreased
 FACS B cells - decreased
 FACS B:T cells - decreased
 FACS B1a cells in B1 cells - decreased
 FACS B1b cells in B1 cells - increased
 FACS B220 MFI - decreased
 FACS CD4+ T cells - increased
 FACS CD8+ T cells - increased
 FACS effector memory CD8 T cells in CD8 T cells - decreased
 FACS IgM MFI - increased
 FACS IgM+ B cells - decreased
 FACS macrophages - decreased
 FACS NK T cells - increased
 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
G ⇒ T splice site probably null
4 UTSW Siglecg 0.091 7 43408204-43418358 bp (+) 43411386 Autosomal Recessive (2;12)
 Autosomal Semidominant (4;30)
good candidate 2019-02-11
Diantha La Vine
 30 Min. Insulin - increased
 FACS B1 cells - increased
 FACS B1a cells - increased
 FACS B1a cells in B1 cells - increased
 FACS B2 cells - decreased
 FACS IgM MFI - decreased
T ⇒ A intron probably benign
5 UTSW Mlkl 0.080 8 111311797-111338177 bp (-) 111312100 Autosomal Recessive (2;34) potential candidate 2019-02-05
Diantha La Vine
 LPS-induced Necroptosis - decreased
 Macrophage necroptosis: low
T ⇒ C intron probably benign
6 UTSW Mlkl 0.080 8 111311797-111338177 bp (-) 111315567 Autosomal Recessive (2;27) excellent candidate 2019-02-05
Diantha La Vine
 LPS-induced Necroptosis - decreased
 Macrophage necroptosis: low
 TLR signaling defect: hypersensitivity to CpG + IFNg
A ⇒ G intron probably benign
[records 1 to 6 of 6]