Phenotypic Mutations

12 mutations affecting 12 genes are currently displayed.

Mutations Mapped and Identified Based on Phenotype
[records 1 to 12 of 12] per page Full List
 
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1 UTSW Dock2 0.000 11 34226815-34783892 bp (-) 34294170 Autosomal Recessive (6;33) potential 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
 OVA-specific IgE - increased
 total IgE level - increased
T ⇒ G critical splice acceptor site probably null
2 UTSW Cd79b 0.037 11 106311341-106314762 bp (-) 106312441 Autosomal Recessive (11;178)
 Autosomal Semidominant (2;28)
excellent candidate 2019-02-27
Diantha La Vine
 FACS B cells - decreased
 FACS B:T cells - decreased
 FACS B1 cells - decreased
 FACS B220 MFI - decreased
 FACS CD4+ T cells - increased
 FACS CD44+ CD4 T cells - increased
 FACS CD44+ CD8 T cells - increased
 FACS CD44+ T cells - increased
 FACS CD8+ T cells - increased
 FACS effector memory CD4 T cells in CD4 T cells - decreased
 FACS NK cells - decreased
 FACS T cells - increased
C ⇒ A critical splice acceptor site probably null
3 UTSW Trpc1 0.178 9 95705082-95750375 bp (-) 95721471 Autosomal Semidominant (1;5) excellent candidate (Recruited) 2019-02-14
Anne Murray
 Body Weight (Female) - increased
T ⇒ C critical splice acceptor site probably null
4 UTSW Itgb2 0.428 10 77530252-77565708 bp (+) 77549849 Unknown (2;0) no linkage results 2019-02-01
Diantha La Vine
 hematopoietic system
 immune system
 NK cell response - decreased
A ⇒ T intron 2 bp probably benign
5 UTSW Jak3 0.414 8 71676296-71690575 bp (+) 71685383 Autosomal Recessive (30;309)
 Autosomal Semidominant (1;4)
excellent candidate 2019-01-30
Diantha La Vine
 Body Weight (DSS Female) - decreased
 FACS B cells - decreased
 FACS B:T cells - decreased
 FACS B1 cells - decreased
 FACS CD11b+ DCs (gated in CD11c+ cells) - decreased
 FACS CD11c+ DCs - increased
 FACS CD4:CD8 - increased
 FACS CD4+ T cells - decreased
 FACS CD44+ CD4 T cells - decreased
 FACS CD44+ T cells - decreased
 FACS CD44+ T MFI - increased
 FACS CD8+ T cells - decreased
 FACS CD8+ T cells in CD3+ T cells - decreased
 FACS CD8a+ DCs (gated in CD11c+ cells) - increased
 FACS effector memory CD8 T cells in CD8 T cells - increased
 FACS IgD+ B cell percentage - decreased
 FACS IgM+ B cells - decreased
 FACS macrophages - increased
 FACS naive CD4 T cells in CD4 T cells - decreased
 FACS naive CD8 T cells in CD8 T cells - decreased
 FACS NK cells - decreased
 FACS NK T cells - decreased
 FACS T cells - decreased
 IgG1 response to a Cysteine Protease (Papain) - decreased
 impaired response to dsDNA- type I IFN production by macrophages
 ratio of OVA-specific IgE over the total IgE - 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
 total IgE level - decreased
A ⇒ T critical splice acceptor site probably null
6 UTSW Tcf7l2 1.000 19 55741810-55933654 bp (+) 55931432 Autosomal Recessive (3;15) good candidate 2018-10-25
Anne Murray
 DSS: sensitive day 10
 DSS: sensitive day 7
 FACS central memory CD8 T cells in CD8 T cells - increased
A ⇒ G critical splice acceptor site probably null
7 UTSW
has video
Agtpbp1 0.651 13 59445742-59585227 bp (-) 59525241 Unknown no linkage results 2018-05-22
Anne Murray
 behavior/neurological
 growth/size
T ⇒ C critical splice acceptor site 2 bp probably benign
8 UTSW
has photo
Tmprss6 0.168 15 78439667-78468634 bp (-) 78464455 Unknown no linkage results 2018-03-06
Diantha La Vine
 embryogenesis
 growth/size
 hematopoietic system
 homeostasis/metabolism
 iron deficiency
 reproductive system
 skin/coat/nails
T ⇒ C intron 2 bp probably benign
9 UTSW Tirap 0.228 9 35184551-35200291 bp (-) 35198707 Unknown (1;0) no linkage results 2017-03-23
Katherine Timer
 immune system
 TLR signaling defect: TNF production by macrophages
T ⇒ A intron 2 bp probably benign
10 UTSW Ern2 0.103 7 122169893-122186207 bp (-) 122173819 Autosomal Recessive (2;6) failed initial filter 2016-11-10
Anne Murray
 DSS: sensitive day 10
 DSS: sensitive day 7
C ⇒ A critical splice acceptor site 1 bp probably null
11 UTSW Chrne 0.105 11 70614883-70619216 bp (-) 70615130 Autosomal Recessive (6;50) excellent candidate 2016-05-13
Anne Murray
 Body Weight - decreased
 Body Weight (Female) - decreased
 Body Weight (Male) - decreased
 FACS neutrophils - increased
 growth/size
 impaired response to dsDNA- type I IFN production by macrophages
 MTT Value of PECs - decreased
T ⇒ A critical splice acceptor site 2 bp probably null
12 UTSW
has photo
Rc3h1 0.285 1 160906418-160974978 bp (+) 160959399 Unknown (1;0)
 Autosomal Recessive (3;16)

 Autosomal Semidominant (4;17)
excellent candidate 2016-05-13
Anne Murray
 Body Weight - decreased
 Body Weight (Female) - decreased
 Body Weight (Male) - decreased
 FACS central memory CD8 T cells in CD8 T cells - decreased
 FACS effector memory CD8 T cells in CD8 T cells - increased
 growth/size
 limbs/digits/tail phenotype
 T-independent B cell response defect- increased TNP-specific IgM to TNP-Ficoll immunization
A ⇒ G critical splice acceptor site probably null
[records 1 to 12 of 12]