Phenotypic Mutations

19 mutations affecting 19 genes are currently displayed.

Mutations Mapped and Identified Based on Phenotype
[records 1 to 19 of 19] per page Full List
 
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1 UTSW Rel 0.000 11 23736847-23770970 bp (-) 23753215 Autosomal Recessive (4;18)
 Autosomal Semidominant (5;25)
excellent candidate 2019-10-23
Diantha La Vine
 FACS B1 cells - decreased
 FACS CD4+ T cells - increased
 FACS CD44+ T cells - increased
 FACS CD44+ T MFI - increased
 FACS naive CD8 T cells in CD8 T cells - decreased
 FACS T cells - increased
 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 ⇒ C critical splice donor site probably null
2 UTSW
has photo
Hps3 0.205 3 19995945-20035315 bp (-) 20030796 Autosomal Semidominant (1;1) failed initial filter 2019-10-23
Anne Murray
 pigmentation
 skin/coat/nails
A ⇒ C missense probably damaging 1.000
3 UTSW
has photo
Adamts20 0.157 15 94270163-94465418 bp (-) 94331458 Autosomal Recessive (1;1) failed initial filter 2019-09-04
Diantha La Vine
 pigmentation
 skin/coat/nails
A ⇒ C missense probably damaging 1.000
4 UTSW Irs2 0.636 8 10984681-11008458 bp (-) 10987012 Autosomal Semidominant (5;27) potential candidate 2019-09-04
Anne Murray
 30 Min. Insulin - increased
 30 Min. Insulin (Female) - increased
 30 Min. Insulin (Male) - increased
 fasting hyperglycemia
 fasting hyperglycemia (female)
A ⇒ C makesense probably null
5 UTSW Mlh1 0.000 9 111228228-111271791 bp (-) 111271523 Autosomal Recessive (2;11) excellent candidate 2019-09-04
Anne Murray
 T-dependent humoral response defect- decreased antibody response to rSFV
 total IgE level - decreased
A ⇒ C start codon destroyed probably null 0.933
6 UTSW Ptprc 0.233 1 138062861-138175708 bp (-) 138067890 Autosomal Recessive (1;7)
 Autosomal Semidominant (4;29)
excellent candidate 2019-09-04
Diantha La Vine
 FACS B1 cells - increased
 FACS B1a cells in B1 cells - decreased
 FACS B1b cells - decreased
 FACS B220 MFI - decreased
 FACS naive CD8 T cells in CD8 T cells - decreased
A ⇒ C missense probably damaging 1.000
7 UTSW Jak3 0.738 8 71676296-71690575 bp (+) 71683978 Autosomal Recessive (5;22)
 Autosomal Semidominant (1;4)
excellent candidate (Recruited) 2019-09-04
Anne Murray
 FACS CD4:CD8 - increased
 FACS CD4+ T cells in CD3+ T cells - increased
 FACS CD8+ T cells in CD3+ T cells - decreased
 FACS effector memory CD4 T cells in CD4 T cells - increased
 FACS effector memory CD8 T cells in CD8 T cells - increased
 T-dependent humoral response defect- decreased antibody response to OVA+ alum immunization
A ⇒ C missense probably damaging 1.000
8 UTSW Ltbr 0.183 6 125306571-125313885 bp (-) 125313388 Autosomal Recessive (2;17) excellent candidate 2019-08-13
Diantha La Vine
 ratio of OVA-specific IgE over the total IgE - increased
 T-dependent humoral response defect- decreased antibody response to rSFV
A ⇒ C critical splice donor site 2 bp probably null
9 UTSW Ifnar1 0.000 16 91485238-91507441 bp (+) 91499885 Unknown (1;0) no linkage results 2018-11-07
Diantha La Vine
 adenovirus infection of macrophages - decreased
 adenovirus infection of macrophages - increased
 immune system
 influenza proliferation in macrophages - decreased
 influenza proliferation in macrophages - increased
 MCMV proliferation in macrophages - decreased
 MCMV proliferation in macrophages - increased
 MCMV susceptibility
 RVFV proliferation in macrophages - increased
A ⇒ C missense probably damaging 0.977
10 UTSW Slc45a2 0.099 15 11000721-11029233 bp (+) 11012610 Unknown no linkage results 2018-08-01
Diantha La Vine
 pigmentation
 skin/coat/nails
A ⇒ C missense probably damaging 0.999
11 UTSW
has video
Myo7a 0.000 7 98051060-98119524 bp (-) 98085466 Autosomal Recessive (2;10) excellent candidate 2018-04-25
Anne Murray
 behavior/neurological
 hearing/vestibular/ear
A ⇒ C missense probably damaging 1.000
12 UTSW
has photo
Samd4 0.816 14 46882854-47105815 bp (+) 47016337 Unknown no linkage results 2018-03-06
Diantha La Vine
 adipose tissue
 growth/size
 homeostasis/metabolism
 skeleton phenotype
A ⇒ C missense probably damaging 1.000
13 UTSW Itk 0.183 11 46325150-46389515 bp (-) 46338099 Autosomal Recessive (17;153) 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 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
14 UTSW
has photo
Rab27a 0.511 9 73044854-73097629 bp (+) 73075544 Unknown (1;0) no linkage results 2017-12-19
Anne Murray
 pigmentation
 skin/coat/nails
A ⇒ C missense probably damaging 0.988
15 UTSW Map3k8 0.000 18 4331327-4353015 bp (-) 4339552 Autosomal Recessive (3;11) excellent candidate 2017-09-11
Diantha La Vine
 TLR signaling defect: hyposensitivity to LPS
 TLR signaling defect: hyposensitivity to PAM3CSK4
 TLR signaling defect: TNF production by macrophages
A ⇒ C missense probably damaging 0.989
16 UTSW Pik3cd 0.951 4 149649168-149702571 bp (-) 149657319 Autosomal Recessive (2;18) good candidate 2016-12-09
Katherine Timer
 T-dependent humoral response defect- decreased antibody response to rSFV
 T-independent B cell response defect- decreased TNP-specific IgM to TNP-Ficoll immunization
A ⇒ C missense probably damaging 1.000
17 UTSW Krt33a 0.108 11 100011195-100016212 bp (-) 100012611 Unknown no linkage results 2016-05-13
Stephen Lyon
 skin/coat/nails
A ⇒ C missense probably damaging 1.000
18 UTSW
has photo
Sox10 1.000 15 79154908-79165240 bp (-) 79163324 Unknown no linkage results 2016-05-13
Peter Jurek
 pigmentation
 skin/coat/nails
A ⇒ C missense probably damaging 1.000
19 APN Atp11c 0.353 X 60223290-60592698 bp (-) 36608577 Unknown no linkage results 2016-05-13
Stephen Lyon
 anemia
 FACS B cells - decreased
 hematopoietic system
 homeostasis/metabolism
 immune system
 liver/biliary system
A ⇒ C unclassified 2 bp probably benign
[records 1 to 19 of 19]