Jmy - SNV Details



 Gene Information 
Gene Name Jmy
Old Gene Names for Jmy Aa591059
Gene Description junction-mediating and regulatory protein [Source:MGI Symbol;Acc:MGI:1913096]
Uniprot Name
CCDS Name
Gene GO
transcription coactivator activity; positive regulation of sequence-specific DNA binding transcription factor activity; actin polymerization-dependent cell motility; cell cycle arrest; cell leading edge; cytoplasm; positive regulation of apoptotic process; induction of apoptosis; DNA repair; regulation of transcription from RNA polymerase II promoter; protein binding; nucleus; regulation of DNA-dependent transcription in response to stress; 'de novo' actin filament nucleation; cytoskeleton; Arp2/3 complex-mediated actin nucleation; actin binding
Homolog in other species JMY
Omim http://omim.org/entry/604279
Immgen Expression
MEDIAN(HIGHER IN DC.LC.SK)
Gnf Expression
MEDIAN
Novel Yes

 Mutation Information 
Mutation Type Non-synonymous
Ensembl ID ENSMUSG00000021690
Chromosome 13
Coordinate 93,499,242     (Assembly: GRCm38)    
Ref Base T
Codon Change gAc/gGc
Var Base C
Zygosity Heterozygous
Read Depth 54
Allele Frequency
T:R0.56
C:V0.44
Amino Acid Position 22
Amino Acid Change D->G (Aspartic acid -> Glycine)
Sample ID IGL02183
Median Base Quality 36
Backgrounds C57BL/6NCrl
Source Australian Phenomics Facility (APF-G1)
Other variants in this mouse 65 Other Mutations

 Predictions 
Polyphen Score 0.26
Polyphen Prediction Benign
Sift Score 0.04
Sift Prediction deleterious

 Availability Details 
Availability Progeny Cryopreserved