Foxd3 - SNV Details



 Human Rare Diseases 
Vitiligo-associated autoimmune disease

 Gene Information 
Gene Name Foxd3
Old Gene Names for Foxd3 Hfh2
Gene Description forkhead box D3 [Source:MGI Symbol;Acc:MGI:1347473]
MGI phenotype Mice homozygous for null alleles dsiplay embryonic lethality with failure of primitive streak formation and gastrulation and failure to derive cultures of embryonic or trophoblast stem cells.
Uniprot Name
CCDS Name
Gene GO
sequence-specific DNA binding; peripheral nervous system development; transcription
DNA-dependent; axon extension involved in axon guidance; sympathetic nervous system development; positive regulation of transcription from RNA polymerase II promoter; regulation of sequence-specific DNA binding transcription factor activity; melanocyte differentiation; iridophore differentiation; DNA binding; sequence-specific DNA binding transcription factor activity; transcription factor complex; protein binding; double-stranded DNA binding; transcription regulatory region DNA binding; kidney development; nucleus; trophectodermal cell differentiation; in utero embryonic development; branching involved in ureteric bud morphogenesis; embryonic placenta development; regulation of transcription
DNA-dependent; negative regulation of transcription from RNA polymerase II promoter; pattern specification process; neural crest cell migration; RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity; transcription factor binding; lateral line nerve glial cell development; DNA binding
bending; enteric nervous system development; cartilage development
Homolog in other species FOXD3
Omim http://omim.org/entry/611539
Immgen Expression
MEDIAN(HIGHER IN NK GROUP, T.8MEM.LN, TGD.SPT.4NVE.PP, T.4FP3+25+.SP)
Gnf Expression
MEDIAN
LOW/MEDIAN
Novel Yes

 Mutation Information 
Mutation Type Non-synonymous
Ensembl ID ENSMUSG00000067261
Chromosome 4
Coordinate 99,657,028     (Assembly: GRCm38)    
Ref Base C
Var Base T
Zygosity Heterozygous
Read Depth 61
Allele Frequency
C:R0.59
T:V0.41
Amino Acid Change S->F (Serine -> Phenylalanine)
Sample ID IGL02483
Median Base Quality 37
Backgrounds C57BL/6NCrl
Source Australian Phenomics Facility (APF-G1)
Other variants in this mouse 51 Other Mutations

 Predictions 
Polyphen Score 1
Polyphen Prediction Probably damaging

 Availability Details 
Availability Progeny Cryopreserved