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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1 UTSW Klhl6 0.074 16 19946496-19983037 bp (-) 19949447 Autosomal Dominant (1;4)
 Autosomal Recessive (1;7)
potential candidate (Recruited) 2019-05-24
Diantha La Vine
 FACS B220 MFI - decreased
 FACS IgD MFI - increased
T ⇒ A splice site 3 bp probably null
2 UTSW Pappa 0.816 4 65124174-65357509 bp (+) 65314796 Unknown (2;0)
 Autosomal Dominant (1;1)

 Autosomal Recessive (5;31)
excellent candidate (Recruited) 2019-05-22
Diantha La Vine
 Body Weight - decreased
 Body Weight (Female) - decreased
 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
3 UTSW Ebf1 0.930 11 44617317-45008091 bp (+) 44990504 Autosomal Recessive (1;4)
 Autosomal Semidominant (2;10)
good candidate 2019-03-21
Diantha La Vine
 FACS B1 cells - decreased
 FACS CD4+ T cells - increased
 FACS T cells - increased
T ⇒ A splice site probably null
4 UTSW Itgb2 0.428 10 77530252-77565708 bp (+) 77548536 Unknown no Linkage result 2019-02-26
Anne Murray
G ⇒ T splice site probably benign
5 UTSW Fnip1 0.676 11 54438199-54518235 bp (+) 54493181 Autosomal Dominant (1;4) not good candidate (Recruited) 2019-02-08
Anne Murray
 FACS B220 MFI - decreased
T ⇒ A splice site probably benign
6 UTSW Itgam 0.376 7 128062640-128118491 bp (+) 128112286 Autosomal Recessive (1;4) not good candidate (Recruited) 2019-02-01
Anne Murray
 FACS CD11b+ DCs (gated in CD11c+ cells) - decreased
A ⇒ G splice site 4 bp probably null
7 UTSW Dsg2 0.153 18 20558074-20604521 bp (+) 20595951 Autosomal Recessive (1;4) excellent candidate (Recruited) 2019-01-30
Anne Murray
 DSS: sensitive day 10
T ⇒ A splice site probably null
8 UTSW Pappa2 0.000 1 158711727-158980490 bp (-) 158782403 Autosomal Recessive (2;10) excellent candidate 2019-01-29
Diantha La Vine
 Body Weight - decreased
 Body Weight (BP) - decreased
A ⇒ T splice site probably null
9 UTSW Slc5a2 0.000 7 128265657-128272430 bp (+) 128267505 Autosomal Recessive (2;20)
 Autosomal Semidominant (1;4)
potential candidate 2018-04-11
Anne Murray
 Body Weight - increased
 TLR signaling defect: hypersensitivity to CpG + IFNg
 TLR signaling defect: TNF production by macrophages
A ⇒ G splice site probably null
10 UTSW Itk 0.325 11 46325150-46389515 bp (-) 46338099 Autosomal Recessive (19;163) excellent candidate 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]