Bcl9l - SNV Details



 Gene Information 
Gene Name Bcl9l
Old Gene Names for Bcl9l Bc003321
Gene Description B cell CLL/lymphoma 9-like [Source:MGI Symbol;Acc:MGI:1933114]
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
negative regulation of transforming growth factor beta receptor signaling pathway; canonical Wnt receptor signaling pathway; transcription
DNA-dependent; positive regulation of transcription from RNA polymerase II promoter; beta-catenin binding; skeletal muscle cell differentiation; nucleus; regulation of cell morphogenesis; somatic stem cell maintenance; positive regulation of epithelial to mesenchymal transition
Homolog in other species BCL9L
Omim http://omim.org/entry/609004
Immgen Expression
MEDIAN(HIGH IN TGD GROUP, ABT GROUP, TACTIVATION GROUP)
Gnf Expression
LOW/MEDIAN(HIGH IN RETINA, UMBLICALCORD, DIGIS, EPIDERMIS TISSUES,TRACHEA)
Novel Yes

 Mutation Information 
Mutation Type Non-synonymous
Ensembl ID ENSMUSG00000063382
Chromosome 9
Coordinate 44,505,739     (Assembly: GRCm38)    
Ref Base T
Var Base G
Zygosity Heterozygous
Read Depth 16
Allele Frequency
T:R0.31
G:V0.69
Amino Acid Change S->R (Serine -> Arginine)
Sample ID IGL02534
Median Base Quality 37.5
Backgrounds C57BL/6NCrl
Source Australian Phenomics Facility (APF-G1)
Other variants in this mouse 33 Other Mutations

 Predictions 
Polyphen Score 0.04
Polyphen Prediction Benign

 Availability Details 
Availability Cryopreserved , Progeny Cryopreserved