Sin3b - SNV Details



 Gene Information 
Gene Name Sin3b
Old Gene Names for Sin3b 2810430c10rik
Gene Description transcriptional regulator, SIN3B (yeast) [Source:MGI Symbol;Acc:MGI:107158]
MGI phenotype Homozygous null mice fail to survive past P1 and exhibit pallor, fetal growth retardation, impaired terminal differentiation of erythrocytes and granulocytes, a pale liver and reduced ossification of the long bones in the hindlimb. Mutant MEFs show impaired G0 arrest upon serum deprivation.
Uniprot Name
CCDS Name
Gene GO
X chromosome; negative regulation of transcription
DNA-dependent; chromatin binding; transcription
DNA-dependent; cytoplasm; negative regulation of cell cycle; transcription corepressor activity; autosome; protein binding; nucleus; Y chromosome; skeletal muscle tissue development; regulation of transcription
DNA-dependent; cardiac muscle tissue development; XY body
Homolog in other species SIN3B
Omim http://omim.org/entry/607777
Immgen Expression
HIGH
Gnf Expression
MEDIAN(HIGH IN NS GROUP)
Novel Yes

 Mutation Information 
Mutation Type Non-synonymous
Ensembl ID ENSMUSG00000031622
Chromosome 8
Coordinate 72,731,105     (Assembly: GRCm38)    
Ref Base T
Codon Change Tgt/Cgt
Var Base C
Zygosity Heterozygous
Read Depth 61
Allele Frequency
T:R0.46
C:V0.54
Amino Acid Position 129
Amino Acid Change C->R (Cysteine -> Arginine)
Sample ID IGL01107
Median Base Quality 37
Backgrounds C57BL/6n
Source Australian Phenomics Facility (APF-G1)
Other variants in this mouse 33 Other Mutations

 Predictions 
Polyphen Score 0
Polyphen Prediction Benign
Sift Score 0.34
Sift Prediction tolerated

 Availability Details 
Availability