Stat4 - SNV Details



 Human Rare Diseases 
Behcet disease

 Gene Information 
Gene Name Stat4
Gene Description signal transducer and activator of transcription 4 [Source:MGI Symbol;Acc:MGI:103062]
Uniprot Name
CCDS Name
Gene GO
sequence-specific DNA binding; cellular response to organic substance; positive regulation of transcription from RNA polymerase II promoter; cell proliferation; signal transduction; DNA binding; sequence-specific DNA binding transcription factor activity; cytokine-mediated signaling pathway; protein binding; nucleus; protein phosphorylation; regulation of transcription
DNA-dependent; signal transducer activity; calcium ion binding
Homolog in other species STAT4
Omim http://omim.org/entry/605118
Immgen Expression
MEDIAN(HIGH IN GN.BM, B.FO.SP, B.MZ.SP, B1A.PC, NK GROUP, ABT GROUP, TACTIVATION GROUP)
Gnf Expression
LOW/MEDIAN(HIGH IN IMM.G1, IMM.G2, TRACHEA, ADIPOSETISSUE)
Novel Yes

 Mutation Information 
Mutation Type Non-synonymous
Ensembl ID ENSMUSG00000062939
Chromosome 1
Coordinate 52,098,415     (Assembly: GRCm38)    
Ref Base C
Var Base T
Zygosity Heterozygous
Read Depth 81
Allele Frequency
C:R0.53
T:V0.47
Amino Acid Change S->F (Serine -> Phenylalanine)
Sample ID IGL02601
Median Base Quality 37
Backgrounds C57BL/6n
Source Australian Phenomics Facility (APF-G1)
Other variants in this mouse 51 Other Mutations

 Predictions 
Polyphen Score 1
Polyphen Prediction Probably damaging
Druggable Yes, View known drug interactions

 Availability Details 
Availability Progeny Cryopreserved , Cryopreserved