Bcl9 - SNV Details



 Gene Information 
Gene Name Bcl9
Old Gene Names for Bcl9 2610202e01rik , 8030475k17rik , A330041g23rik , Gm130
Gene Description B cell CLL/lymphoma 9 [Source:MGI Symbol;Acc:MGI:1924828]
MGI phenotype Mice double homozygous for conditional Bcl9 and Bcl9l alleles activated in muscle cells exhibit impaired muscle regeneration due to increased apoptosis.
Uniprot Name
CCDS Name
Gene GO
canonical Wnt signaling pathway; positive regulation of transcription from RNA polymerase II promoter; beta-catenin binding; cytoplasm; skeletal muscle cell differentiation; myotube differentiation involved in skeletal muscle regeneration; protein binding; nucleus; somatic stem cell maintenance; Golgi apparatus; cis-Golgi network
Homolog in other species BCL9
Omim http://omim.org/entry/602597
Immgen Expression
MEDIAN(HIGHER IN PROB.FRBC.FL, PREB.FRD.FL, T.DPSM.TH, TGD.TH)
Gnf Expression
HIGH
MEDIAN/HIGH(HIGH IN PANCREAS, DORSALSTRIATUM, LIVER, EMBRYODAY6.5, SPLEEN, IMM.G2, THYROID)
MEDIAN(HIGH IN PREOPTIC)
Novel Yes

 Mutation Information 
Mutation Type Non-synonymous
Ensembl ID ENSMUSG00000038256
Chromosome 3
Coordinate 97,210,052     (Assembly: GRCm38)    
Ref Base G
Var Base A
Zygosity Heterozygous
Read Depth 25
Allele Frequency
G:R0.36
A:V0.64
Amino Acid Change P->L (Proline -> Leucine)
Sample ID IGL02884
Median Base Quality 40
Backgrounds C57BL/6NCrl
Source Australian Phenomics Facility (APF-G1)
Other variants in this mouse 54 Other Mutations

 Predictions 
Polyphen Score 1
Polyphen Prediction Probably damaging

 Availability Details 
Availability Progeny Cryopreserved