Abl1 - SNV Details



 Human Rare Diseases 
Precursor T-cell acute lymphoblastic leukemia
Precursor B-cell acute lymphoblastic leukemia
Chronic myeloid leukemia

 Gene Information 
Gene Name Abl1
Old Gene Names for Abl1 E430008g22rik , Ai325092
Gene Description c-abl oncogene 1, non-receptor tyrosine kinase [Source:MGI Symbol;Acc:MGI:87859]
MGI phenotype Mice homozygous for targeted mutations that inactivate the gene have increased perinatal and postnatal mortality and may display foreshortened crania, abnormal development of spleen, head, heart and eye, reduced B and T cell populations, and osteoporosis.
Uniprot Name
CCDS Name
Gene GO
mitochondrion; positive regulation of oxidoreductase activity; proline-rich region binding; platelet-derived growth factor receptor signaling pathway; protein kinase activity; perinuclear region of cytoplasm; actin cytoskeleton organization; apoptotic process; regulation of cell cycle; cell leading edge; cytoplasm; SH3 domain binding; cell adhesion; positive regulation of apoptotic process; kinase activity; DNA repair; peptidyl-tyrosine phosphorylation; protein C-terminus binding; DNA binding; transferase activity
transferring phosphorus-containing groups; manganese ion binding; protein binding; non-membrane spanning protein tyrosine kinase activity; nucleus; cytosol; cytoskeleton; protein domain specific binding; autophagy; magnesium ion binding; negative regulation of protein serine/threonine kinase activity; DNA damage induced protein phosphorylation; protein phosphorylation; protein tyrosine kinase activity; ATP binding; nucleolus; signal transduction in response to DNA damage; mitogen-activated protein kinase binding; endocytosis; regulation of response to DNA damage stimulus
Homolog in other species ABL1
Omim http://omim.org/entry/189980
Immgen Expression
MEDIAN(LOW IN GN.BM)
Gnf Expression
MEDIAN
Novel Yes

 Mutation Information 
Mutation Type Non-synonymous
Ensembl ID ENSMUSG00000026842
Chromosome 2
Coordinate 31,801,132     (Assembly: GRCm38)    
Ref Base G
Codon Change Gta/Ata
Var Base A
Zygosity Heterozygous
Read Depth 24
Allele Frequency
G:R0.54
A:V0.46
Amino Acid Position 888
Amino Acid Change V->I (Valine -> Isoleucine)
Sample ID IGL02424
Median Base Quality 39
Backgrounds C57BL/6NCrl
Source Australian Phenomics Facility (APF-G1)
Other variants in this mouse 44 Other Mutations

 Predictions 
Polyphen Score 0
Polyphen Prediction Benign
Sift Score 0.38
Sift Prediction tolerated
Druggable Yes, View known drug interactions

 Availability Details 
Availability Cryopreserved , Progeny Cryopreserved