Phenotypic Mutations

16 mutations affecting 15 genes are currently displayed.

Mutations Mapped and Identified Based on Phenotype
[records 1 to 16 of 16] per page Full List
 




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Verification Probability

Phenotypic Category

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1 UTSW Dst 0.322 Phelps 1 33908225-34308661 bp (+) 34223795 Autosomal Semidominant (1;1) failed initial filter 2019-10-23
Anne Murray
behavior/neurological
FACS B1a cells in B1 cells - increased
FACS CD11c+ DCs - increased
growth/size
T ⇒ A splice site 9 bp probably null
2 UTSW Tlr4 0.000 Lops 4 66827584-66930284 bp (+) 66833880 Autosomal Semidominant (3;15) 0.969 2019-09-04
Katherine Timer
FACS B220 MFI - decreased
NLRP3 inflammasome: low response
TLR signaling defect: hyposensitivity to LPS
TLR signaling defect: TNF production by macrophages
T ⇒ A splice site 14 bp probably null
3 UTSW Sell 0.000 dim_sum 1 164061982-164084181 bp (+) 164066201 Autosomal Dominant (1;4)
Autosomal Recessive (6;41)
0.976 2019-09-04
Peter Jurek
FACS central memory CD4 T cells in CD4 T cells - decreased
FACS central memory CD8 T cells in CD8 T cells - decreased
FACS effector memory CD8 T cells in CD8 T cells - increased
FACS naive CD4 T cells in CD4 T cells - decreased
FACS naive CD8 T cells in CD8 T cells - decreased
T-dependent humoral response defect- decreased antibody response to OVA+ alum immunization
T-dependent humoral response defect- decreased antibody response to rSFV
T ⇒ A splice site 9 bp probably null
4 UTSW Prkdc 0.947 screamer7 16 15637866-15842235 bp (+) 15654817 Autosomal Recessive (2;8)
Autosomal Semidominant (1;6)
0.529 2019-09-04
Diantha La Vine
FACS CD44+ CD4 T cells - increased
post-MCMV FACS CD8+ T cells - decreased
post-MCMV FACS pDCs - increased
A ⇒ G splice site 4 bp probably null
5 APN Ptprc 0.000 lochy 1 138062861-138175708 bp (-) 138083790 Unknown no linkage results 2019-06-06
Diantha La Vine
FACS B cells - decreased
FACS CD4+ T cells - decreased
FACS CD8+ T cells - decreased
hematopoietic system
immune system
A ⇒ T splice site probably benign
6 APN Nfkb2 0.592 xander 19 46304737-46312090 bp (+) Unknown no linkage results 2019-05-26
Diantha La Vine
FACS B cells - decreased
immune system
splice acceptor site 4 bp
7 UTSW Dock2 0.000 frizz 11 34226815-34783892 bp (-) 34258184 Unknown (1;0) no linkage results 2019-05-21
Diantha La Vine
FACS B cells - decreased
FACS CD4+ T cells - decreased
FACS CD8+ T cells - decreased
immune system
T-dependent humoral response defect- decreased antibody response to rSFV
A ⇒ T splice site 11 bp probably benign
8 UTSW Adamts20 0.164 splotch2 15 94270163-94465418 bp (-) 94335561 Unknown no linkage results 2018-10-05
Diantha La Vine
pigmentation
skin/coat/nails
A ⇒ T intron 8 bp probably benign
9 UTSW
has photo
Ednrb 0.803 pongo 14 103814625-103844402 bp (-) 103823274 Autosomal Recessive (1;3) failed initial filter 2018-04-25
Anne Murray
digestive/alimentary
growth/size
life span-post-weaning/aging
pigmentation
skin/coat/nails
A ⇒ T splice site 15 bp probably null
10 UTSW Stat1 0.000 poison 1 52119440-52161865 bp (+) 52151225 Unknown (2;0) no linkage results 2018-03-29
Diantha La Vine
immune system
MCMV susceptibility
NK cell response - decreased
T ⇒ A splice site 13 bp probably benign
11 UTSW Map3k8 0.000 Sluggish 18 4331327-4353015 bp (-) 4339608 Unknown (1;0) no linkage results 2017-09-11
Diantha La Vine
immune system
TLR signaling defect: TNF production by macrophages
A ⇒ T splice site 5 bp probably benign
12 UTSW Yipf6 Klein-zschocher X 98936316-98949017 bp (+) 98940782 Unknown (1;0) no linkage results 2016-12-09
Anne Murray
DSS: sensitive day 7
immune system
T ⇒ A splice site 5 bp probably benign
13 APN Cd4 0.000 thoth 6 124864692-124888221 bp (-) 124873140 Unknown no linkage results 2016-05-13
Peter Jurek
FACS CD4+ T cells - decreased
immune system
G ⇒ T splice site 10 bp probably benign
14 UTSW Bloc1s5 0.000 minnie 13 38592842-38635109 bp (-) 38606734 Unknown no linkage results 2016-05-13
Stephen Lyon
hearing/vestibular/ear
pigmentation
skin/coat/nails
A ⇒ T intron 7 bp probably benign
15 APN Cd4 0.000 maat 6 124864692-124888221 bp (-) 124866684 Unknown no linkage results 2016-05-13
Peter Jurek
FACS CD4+ T cells - decreased
immune system
A ⇒ T unclassified 13 bp probably benign
16 UTSW Mlph 0.091 koala 1 90915085-90951142 bp (+) 90933301 Unknown no linkage results 2016-05-13
Anne Murray
pigmentation
skin/coat/nails
A ⇒ G unclassified 17 bp probably benign
[records 1 to 16 of 16]