Hif3a - SNV Details



 Gene Information 
Gene Name Hif3a
Gene Description hypoxia inducible factor 3, alpha subunit [Source:MGI Symbol;Acc:MGI:1859778]
MGI phenotype Mice homozygous for a knock-out allele display impaired lung remodeling resulting in hypertrophy of the heart right ventricle and pulmonary hyperplasia.
Uniprot Name
CCDS Name
Gene GO
transcription coactivator activity; transcription from RNA polymerase II promoter; regulation of transcription
DNA-templated; cytoplasm; signal transduction; transcription corepressor activity; DNA binding; sequence-specific DNA binding transcription factor activity; regulation of transcription from RNA polymerase II promoter; response to hypoxia; protein binding; nucleus; protein dimerization activity; plasma membrane; signal transducer activity
Homolog in other species HIF3A
Omim http://omim.org/entry/609976
Immgen Expression
MEDIAN(HIGHER IN NK GROUP, T.8MEM.LN, TGD.SPT.4NVE.PP, T.4FP3+25+.SP)
Gnf Expression
LOW
Novel Yes

 Mutation Information 
Mutation Type Splice
Ensembl ID ENSMUSG00000004328
Chromosome 7
Coordinate 17,050,761     (Assembly: GRCm38)    
Ref Base T
Var Base A
Zygosity Heterozygous
Read Depth 27
Allele Frequency
T:R0.56
A:V0.44
Amino Acid Change Disrupted splicing
Splice Position 4
Sample ID IGL02704
Median Base Quality 37
Source Australian Phenomics Facility (APF-G1)
Other variants in this mouse 40 Other Mutations

 Predictions 

 Availability Details 
Availability Cryopreserved