Bclaf1 - SNV Details



 Gene Information 
Gene Name Bclaf1
Old Gene Names for Bclaf1 2700025j07rik , 2810454g14rik , 5730534o06rik , Ai450190 , Aw556225 , 2610102k23rik
Gene Description BCL2-associated transcription factor 1 [Source:MGI Symbol;Acc:MGI:1917580]
MGI phenotype Mice homozygous for a knock-out allele exhibit postnatal lethalilty, impaired lung development, and T cell and B cell homeostasis.
Uniprot Name
CCDS Name
Gene GO
negative regulation of transcription
DNA-dependent; transcription
DNA-dependent; cytoplasm; positive regulation of apoptotic process; positive regulation of DNA-dependent transcription
initiation; positive regulation of intrinsic apoptotic signaling pathway; DNA binding; protein binding; positive regulation of response to DNA damage stimulus; regulation of DNA-dependent transcription in response to stress; nucleolus
Homolog in other species BCLAF1
Omim http://omim.org/entry/612588
Immgen Expression
HIGH
Gnf Expression
MEDIAN
HIGH
HIGH(HIGHER IN IMM.G1, IMM.G3, AND EMB GROUP)
Novel Yes

 Mutation Information 
Mutation Type Non-synonymous
Ensembl ID ENSMUSG00000037608
Chromosome 10
Coordinate 20,325,310     (Assembly: GRCm38)    
Ref Base A
Codon Change gAc/gGc
Var Base G
Zygosity Heterozygous
Read Depth 23
Allele Frequency
A:R0.43
G:V0.52
Amino Acid Position 394
Amino Acid Change D->G (Aspartic acid -> Glycine)
Sample ID IGL01087
Median Base Quality 39
Backgrounds C57BL/6n
Source Australian Phenomics Facility (APF-G1)
Other variants in this mouse 41 Other Mutations

 Predictions 
Polyphen Score 0.99
Polyphen Prediction Probably damaging
Sift Score 0.75
Sift Prediction tolerated

 Availability Details 
Availability Cryopreserved