Stat1 - SNV Details



 Gene Information 
Gene Name Stat1
Old Gene Names for Stat1 2010005j02rik , Aa408197
Gene Description signal transducer and activator of transcription 1 [Source:MGI Symbol;Acc:MGI:103063]
MGI phenotype Homozygotes for targeted null mutations are largely unresponsive to interferon, fail to thrive, are susceptible to viral diseases and cutaneous leishmaniasis, and show excess osteoclastogenesis leading to increased bone mass.
Uniprot Name
CCDS Name
Gene GO
renal tubule development; JAK-STAT cascade; negative regulation of endothelial cell proliferation; response to lipopolysaccharide; enzyme binding; transcription
DNA-dependent; negative regulation of I-kappaB kinase/NF-kappaB cascade; interferon-gamma-mediated signaling pathway; positive regulation of transcription from RNA polymerase II promoter; RNA polymerase II core promoter sequence-specific DNA binding; cytoplasm; signal transduction; response to bacterium; tumor necrosis factor-mediated signaling pathway; response to exogenous dsRNA; sequence-specific DNA binding transcription factor activity; protein homodimerization activity; cytokine-mediated signaling pathway; tumor necrosis factor receptor binding; protein binding; double-stranded DNA binding; nucleus; positive regulation of transcription
DNA-dependent; regulation of transcription
DNA-dependent; RNA polymerase II core promoter sequence-specific DNA binding transcription factor activity; signal transducer activity; nucleolus; calcium ion binding; negative regulation of angiogenesis; lipopolysaccharide-mediated signaling pathway
Homolog in other species STAT1
Omim http://omim.org/entry/600555
Immgen Expression
HIGH(LOWER IN BCELL GROUP, T.DPSM.TH, DC.LC.SK, MF.THIO5.II-480HI.PC)
Gnf Expression
MEDIAN(HIGH IN IMM.G1, IMM.G3)
Novel Yes

 Mutation Information 
Mutation Type Non-synonymous
Ensembl ID ENSMUSG00000026104
Chromosome 1
Coordinate 52,126,557     (Assembly: GRCm38)    
Ref Base T
Codon Change aTc/aCc
Var Base C
Zygosity Heterozygous
Read Depth 35
Allele Frequency
T:R0.34
C:V0.66
Amino Acid Position 104
Amino Acid Change I->T (Isoleucine -> Threonine)
Sample ID IGL01913
Median Base Quality 41
Backgrounds C57BL/6NCrl
Source Australian Phenomics Facility (APF-G1)
Other variants in this mouse 28 Other Mutations

 Predictions 
Polyphen Score 0.93
Polyphen Prediction Possibly damaging
Sift Score 0.1
Sift Prediction tolerated

 Availability Details 
Availability Cryopreserved