Phenotypic Mutations

10 mutations affecting 10 genes are currently displayed.

Mutations Mapped and Identified Based on Phenotype
[records 1 to 10 of 10] per page Full List
 




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Verification Probability

Phenotypic Category

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1 UTSW Slc5a2 0.000 dregs 7 128265657-128272430 bp (+) 128267505 Autosomal Recessive (3;24)
Autosomal Semidominant (1;4)
0.524 2019-09-04
Anne Murray
Body Weight - increased
DSS: sensitive day 10
TLR signaling defect: hypersensitivity to CpG + IFNg
TLR signaling defect: TNF production by macrophages
A ⇒ G splice site probably null
2 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
3 UTSW Ebf1 0.904 Oregano2 11 44617317-45008091 bp (+) 44990504 Autosomal Recessive (2;8)
Autosomal Semidominant (2;10)
0.946 2019-09-04
Diantha La Vine
FACS B1 cells - decreased
FACS CD4+ T cells - increased
FACS T cells - increased
T ⇒ A splice site probably null
4 UTSW Dsg2 0.187 dissolute 18 20558074-20604521 bp (+) 20595951 Autosomal Recessive (1;4) 0.464 2019-09-04
Anne Murray
DSS: sensitive day 10
T ⇒ A splice site probably null
5 UTSW Fnip1 0.688 Normandy 11 54438199-54518235 bp (+) 54493181 Autosomal Dominant (1;4) 0.081 2019-09-04
Anne Murray
FACS B220 MFI - decreased
T ⇒ A splice site probably benign
6 UTSW Itgam 0.116 apparition 7 128062640-128118491 bp (+) 128112286 Autosomal Recessive (1;4) 0.760 2019-09-04
Anne Murray
FACS CD11b+ DCs (gated in CD11c+ cells) - decreased
A ⇒ G splice site 4 bp probably null
7 UTSW Itgb2 0.330 barely 10 77530252-77565708 bp (+) 77548536 Unknown no linkage result 2019-09-04
Anne Murray
G ⇒ T splice site probably benign
8 UTSW Klhl6 0.094 besmirched 16 19946496-19983037 bp (-) 19949447 Autosomal Dominant (1;4)
Autosomal Recessive (1;7)
0.871 2019-09-04
Diantha La Vine
FACS B220 MFI - decreased
FACS IgD MFI - increased
T ⇒ A splice site 3 bp probably null
9 UTSW Pappa 0.728 maennelein 4 65124174-65357509 bp (+) 65314796 Unknown (2;0)
Autosomal Dominant (1;1), Autosomal Recessive (6;40)
0.886 2019-09-04
Diantha La Vine
Body Weight - decreased
Body Weight (Female) - decreased
Body Weight (Z-score) - 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
G ⇒ A splice site 5 bp probably null
10 UTSW Itk 0.164 goodnow 11 46325150-46389515 bp (-) 46338099 Autosomal Recessive (19;163) 0.926 2018-01-30
Anne Murray
FACS B cells - increased
FACS B:T 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+ 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 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
total IgE level - increased
A ⇒ C splice site probably null
[records 1 to 10 of 10]