Hsf4 - SNV Details



 Gene Information 
Gene Name Hsf4
Gene Description heat shock transcription factor 4 [Source:MGI Symbol;Acc:MGI:1347058]
MGI phenotype Homozygous null mice display abnormal lens morphology and cataracts.
Uniprot Name
CCDS Name
Gene GO
sequence-specific DNA binding; eye development; transcription
DNA-dependent; positive regulation of transcription from RNA polymerase II promoter; cell development; sequence-specific DNA binding transcription factor activity; positive regulation of cell differentiation; nucleus; protein homotrimerization; regulation of transcription
DNA-dependent; response to stress; negative regulation of transcription from RNA polymerase II promoter; protein homooligomerization; histone H3-K9 demethylation; camera-type eye development; positive regulation of cell proliferation
Homolog in other species HSF4
Omim http://omim.org/entry/602438
Immgen Expression
MEDIAN(HIGHER IN NK GROUP, T.8MEM.LN, TGD.SPT.4NVE.PP, T.4FP3+25+.SP)
Gnf Expression
MEDIAN(HIGH IN CEREBELLUM, OLFACTORYBULB, SPINALCORDLOWER, SPINALCORDUPPER, SUBSTANTIANIGRA, HYPOTHALAMUS)
Novel Yes

 Mutation Information 
Mutation Type Splice
Ensembl ID ENSMUSG00000033249
Chromosome 8
Coordinate 105,275,667     (Assembly: GRCm38)    
Ref Base T
Var Base G
Zygosity Heterozygous
Read Depth 36
Allele Frequency
T:R0.47
G:V0.53
Amino Acid Change Disrupted splicing
Splice Position 9
Sample ID IGL02040
Median Base Quality 39
Backgrounds C57BL/6NCrl
Source Australian Phenomics Facility (APF-G1)
Other variants in this mouse 58 Other Mutations

 Predictions 

 Availability Details 
Availability Progeny Cryopreserved , Cryopreserved