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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Verification Probability

Phenotypic Category

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1 UTSW
has video
Pcdh15 0.000 Tortilla 10 73099342-74649737 bp (+) 74379417 Autosomal Recessive (1;6)
Autosomal Semidominant (2;9)
0.317 2019-10-23
Diantha La Vine
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 0.096 Frozen 8 10006467-10039072 bp (+) 10031661 Autosomal Recessive (6;46)
Autosomal Semidominant (8;93)
0.837 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 0.721 citron 8 71676296-71690575 bp (+) 71686976 Autosomal Recessive (2;10)
Autosomal Semidominant (1;5)
0.727 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 0.835 Kraken 1 45311538-45349706 bp (+) 45327866 Autosomal Recessive (2;7) 0.430 2019-09-04
Anne Murray
DSS: sensitive day 10
DSS: sensitive day 7
A ⇒ T splice site 3 bp probably null
5 UTSW Irf9 0.138 Long_lost 14 55603571-55610030 bp (+) 55605910 Autosomal Recessive (1;7)
Autosomal Semidominant (3;16)
0.263 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 0.260 costume 1 86542994-86582629 bp (-) 86547526 Unknown (2;0)
Autosomal Recessive (4;23)
0.570 2019-09-04
Anne Murray
Body Weight - decreased
Body Weight (DSS Female) - 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 0.915 set 11 16752203-16918158 bp (+) 16871881 Autosomal Recessive (2;8) 0.075 2019-09-04
Anne Murray
30 min GTT hypoglycemic (male)
skin/coat/nails
T ⇒ C splice site 6 bp probably benign
8 UTSW Ern2 0.100 Ernie2 7 122169893-122186207 bp (-) 122180862 Autosomal Dominant (1;1)
Autosomal Semidominant (1;4)
0.505 2019-09-04
Anne Murray
DSS: sensitive day 10
DSS: sensitive day 7
A ⇒ G splice site probably benign
9 UTSW Irf4 0.443 Honey2 13 30749226-30766976 bp (+) 30761490 Autosomal Dominant (1;7)
Autosomal Recessive (1;13), Autosomal Semidominant (1;9)
0.155 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 0.299 vulpix 13 13590397-13778803 bp (+) 13696794 Autosomal Recessive (4;15) 0.572 2019-09-04
Diantha La Vine
FACS CD44+ CD8 T cells - increased
FACS CD8a+ DCs (gated in CD11c+ cells) - increased
FACS NK1.1+ T cells - increased
pigmentation
skin/coat/nails
T ⇒ C splice site probably null
11 UTSW Sppl2a 0.081 abra2 2 126890391-126933235 bp (-) 126920313 Autosomal Recessive (5;44)
Autosomal Semidominant (1;4)
0.958 2019-09-04
Anne Murray
FACS central memory CD8 T cells in CD8 T cells - 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 After 2nd OVA/Alum Challenge (day 7) - decreased
total IgE level - decreased
C ⇒ T splice site probably null
12 UTSW Rorc 0.814 chestnut 3 94372794-94398276 bp (+) 94377609 Autosomal Recessive (5;26)
Autosomal Semidominant (3;14)
0.662 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 odd 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 0.116 invisible 7 128062640-128118491 bp (+) 128070703 Autosomal Recessive (6;84)
Autosomal Semidominant (2;11)
0.947 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
impaired response to dsDNA- type I IFN production by macrophages
TLR signaling defect: hypersensitivity to R848
TLR signaling defect: TNF production by macrophages
A ⇒ G splice site 4 bp probably null
15 UTSW
has photo
Spink5 1.000 crusty2 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 0.175 jinx 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 salt_and_pepper 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 0.961 nut 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 atchoum 2 118388618-118475234 bp (+) 118400653 Unknown (2;0) no linkage results 2016-05-13
Stephen Lyon
adenovirus infection of macrophages - increased
immune system
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]