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
has video
Pcdh15 0.000 10 73099342-74649737 bp (+) 74379417 Autosomal Recessive (2;10)
 Autosomal Semidominant (2;9)
excellent candidate 2019-10-23
Diantha La Vine
 behavior/neurological
 FACS CD44+ CD8 T cells - increased
 FACS CD44+ T cells - increased
 OVA-specific IgE after 2nd OVA/Alum - increased
G ⇒ T splice site probably null
2 UTSW Tnfsf13b 0.080 8 10006467-10039072 bp (+) 10031661 Autosomal Recessive (6;46)
 Autosomal Semidominant (8;93)
excellent candidate 2019-09-04
Diantha La Vine
 FACS B cells - decreased
 FACS B:T cells - decreased
 FACS B1a cells - increased
 FACS CD11c+ DCs - increased
 FACS CD8+ T cells - increased
 FACS IgD MFI - decreased
 FACS IgD+ B cell percentage - decreased
 FACS IgM MFI - increased
 FACS IgM+ B cells - decreased
 FACS macrophages - increased
 FACS neutrophils - increased
 FACS T cells - increased
 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 ⇒ A splice site 5 bp probably null
3 UTSW Jak3 0.524 8 71676296-71690575 bp (+) 71686976 Autosomal Recessive (2;10)
 Autosomal Semidominant (1;5)
potential candidate 2019-09-04
Diantha La Vine
 cellular phenotype
 FACS B:T cells - increased
 FACS B1b cells - decreased
 FACS CD8+ T cells - decreased
 hematopoietic system
C ⇒ T splice site 4 bp probably benign
4 UTSW Col3a1 0.899 1 45311538-45349706 bp (+) 45327866 Autosomal Recessive (2;7) excellent candidate 2019-09-04
Anne Murray
 DSS: sensitive day 10
 DSS: sensitive day 7
A ⇒ T splice site 3 bp probably null
5 UTSW Irf9 0.129 14 55603571-55610030 bp (+) 55605910 Autosomal Recessive (1;7)
 Autosomal Semidominant (3;16)
not good candidate 2019-09-04
Katherine Timer
 dsDNA induced type I IFN production - increased
 IgE response to a Cysteine Protease (Papain) - decreased
 impaired response to dsDNA- type I IFN production by macrophages
 LPS-induced Necroptosis - decreased
 Macrophage necroptosis: low
T ⇒ C splice site 6 bp probably null
6 UTSW Pde6d 0.327 1 86542994-86582629 bp (-) 86547526 Unknown (1;0)
 Autosomal Recessive (4;23)
excellent candidate 2019-09-04
Anne Murray
 Body Weight - decreased
 Body Weight (Female) - decreased
 Body Weight (Male) - decreased
 Body Weight (Z-score) - decreased
T ⇒ C splice site 3 bp probably null
7 UTSW
has photo
Egfr 0.922 11 16752203-16918158 bp (+) 16871881 Autosomal Recessive (2;8) potential candidate 2019-09-04
Anne Murray
 30 min GTT hypoglycemic (male)
 skin/coat/nails
T ⇒ C splice site 6 bp probably benign
8 UTSW Ern2 0.096 7 122169893-122186207 bp (-) 122180862 Autosomal Dominant (1;1)
 Autosomal Semidominant (1;4)
potential candidate 2019-09-04
Anne Murray
 DSS: sensitive day 10
 DSS: sensitive day 7
A ⇒ G splice site probably benign
9 UTSW Irf4 0.390 13 30749226-30766976 bp (+) 30761490 Autosomal Dominant (1;7)
 Autosomal Recessive (1;13)

 Autosomal Semidominant (1;9)
potential candidate 2019-09-04
Anne Murray
 FACS B1 cells - increased
 FACS IgM MFI - increased
 T-dependent humoral response defect- decreased antibody response to rSFV
T ⇒ C splice site probably benign
10 UTSW
has photo
Lyst 0.248 13 13590397-13778803 bp (+) 13696794 Autosomal Recessive (4;15) potential candidate 2019-09-04
Diantha La Vine
 FACS CD44+ CD8 T cells - increased
 FACS CD8a+ DCs (gated in CD11c+ cells) - increased
 FACS NK T cells - increased
 pigmentation
 skin/coat/nails
T ⇒ C splice site probably null
11 UTSW Sppl2a 0.102 2 126890391-126933235 bp (-) 126920313 Autosomal Recessive (5;44) excellent candidate 2019-09-04
Anne Murray
 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 After 2nd OVA/Alum Challenge (day 7) - decreased
 total IgE level - decreased
C ⇒ T splice site probably null
12 UTSW Rorc 0.865 3 94372794-94398276 bp (+) 94377609 Autosomal Recessive (5;26)
 Autosomal Semidominant (3;14)
excellent candidate 2019-06-03
Diantha La Vine
 Body Weight (Male) - increased
 FACS B:T cells - increased
 FACS CD4+ T cells - decreased
 FACS CD4+ T cells in CD3+ T cells - decreased
 FACS CD8+ T cells - decreased
 FACS NK cells - increased
 FACS T cells - decreased
 T-dependent humoral response defect- decreased antibody response to rSFV
T ⇒ C splice site 6 bp probably benign
13 UTSW
has photo
Lepr 0.000 4 101717404-101815352 bp (+) 101728075 Unknown no linkage results 2019-03-30
Diantha La Vine
 adipose tissue
 behavior/neurological
 Body Weight - increased
 growth/size
 homeostasis/metabolism
G ⇒ T splice site 5 bp probably benign
14 UTSW Itgam 0.130 7 128062640-128118491 bp (+) 128070703 Autosomal Recessive (4;75)
 Autosomal Semidominant (2;11)
excellent candidate 2019-02-01
Diantha La Vine
 FACS CD11b+ DCs (gated in CD11c+ cells) - decreased
 FACS CD8a+ DCs (gated in CD11c+ cells) - increased
 FACS macrophages - decreased
 FACS neutrophils - decreased
 FACS pDCs - increased
 TLR signaling defect: hypersensitivity to R848
 TLR signaling defect: TNF production by macrophages
A ⇒ G unclassified 4 bp probably null
15 UTSW
has photo
Spink5 1.000 18 43963235-44022501 bp (+) 43999935 Unknown (1;0) no linkage results 2018-05-22
Anne Murray
 immune system
 lethality-postnatal
 skin/coat/nails
T ⇒ G splice site 6 bp probably benign
16 UTSW Unc13d 0.164 11 116062095-116077961 bp (-) 116073423 Unknown (1;0) no linkage results 2016-10-11
Bruce Beutler
 DSS: sensitive day 7
 hematopoietic system
 immune system
 MCMV susceptibility
 NK cell response - decreased
G ⇒ T unclassified 57 bp probably benign
17 UTSW
has photo
Dtnbp1 0.000 13 44922075-45002147 bp (-) 44941438 Unknown (2;0) no linkage results 2016-05-13
Stephen Lyon
 immune system
 MCMV susceptibility
 NK cell response - decreased
 pigmentation
 skin/coat/nails
T ⇒ A intron 3 bp probably benign
18 UTSW Myo5a 0.913 9 75071015-75223688 bp (+) Unknown no linkage results 2016-05-13
Peter Jurek
 pigmentation
 skin/coat/nails
splice donor site 5 bp
19 UTSW Eif2ak4 0.000 2 118388618-118475234 bp (+) 118400653 Unknown (2;0) no linkage results 2016-05-13
Stephen Lyon
 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
 TLR signaling defect: TNF production by macrophages
T ⇒ C splice site 6 bp probably benign
[records 1 to 19 of 19]