Atm - SNV Details



 Human Rare Diseases 
Mantle cell lymphoma
Ataxia-telangiectasia
B-cell chronic lymphocytic leukemia

 Gene Information 
Gene Name Atm
Old Gene Names for Atm Ai256621 , C030026e19rik
Gene Description ataxia telangiectasia mutated homolog (human) [Source:MGI Symbol;Acc:MGI:107202]
MGI phenotype Homozygotes for null mutations may exhibit locomotor abnormalities, motor learning deficits, growth retardation, sterility due to meiotic arrest, and susceptibility to thymic lymphomas.
Uniprot Name
CCDS Name
Gene GO
nucleoplasm; response to ionizing radiation; histone serine kinase activity; somitogenesis; protein kinase activity; protein autophosphorylation; phosphatidylinositol-3-phosphate biosynthetic process; chromosome
telomeric region; cell cycle arrest; apoptotic process; regulation of cell cycle; DNA-dependent protein kinase activity; mitotic spindle assembly checkpoint; DNA damage checkpoint; cytoplasm; replicative senescence; positive regulation of apoptotic process; histone mRNA catabolic process; DNA repair; positive regulation of neuron apoptotic process; negative regulation of B cell proliferation; histone-serine phosphorylation; histone phosphorylation; DNA binding; transferase activity
transferring phosphorus-containing groups; intrinsic apoptotic signaling pathway in response to DNA damage; response to hypoxia; signal transduction involved in mitotic G2 DNA damage checkpoint; pre-B cell allelic exclusion; protein binding; peptidyl-serine phosphorylation; positive regulation of DNA damage response
signal transduction by p53 class mediator; binding; lipoprotein catabolic process; neuron apoptotic process; nucleus; telomere maintenance; spindle; cellular response to gamma radiation; phosphotransferase activity
alcohol group as acceptor; oocyte development; protein dimerization activity; DNA damage induced protein phosphorylation; protein phosphorylation; protein complex binding; female gamete generation; ATP binding; heart development; cellular response to DNA damage stimulus; 1-phosphatidylinositol-3-kinase activity; protein N-terminus binding; protein serine/threonine kinase activity; brain development; cytoplasmic membrane-bounded vesicle
Homolog in other species ATM
Omim http://omim.org/entry/607585
Immgen Expression
MEDIAN(LOWER IN MYELOID GROUP, DC.LC.SK)
Gnf Expression
MEDIAN(HIGH IN IMM.G1, IMM.G3)
MEDIAN(HIGH IN IMM.G1, IMM.G3)
Novel Yes

 Mutation Information 
Mutation Type Non-synonymous
Ensembl ID ENSMUSG00000034218
Chromosome 9
Coordinate 53,453,563     (Assembly: GRCm38)    
Ref Base G
Var Base T
Zygosity Heterozygous
Read Depth 51
Allele Frequency
G:R0.49
T:V0.51
Amino Acid Change N->K (Asparagine -> Lysine)
Sample ID IGL02965
Median Base Quality 38
Backgrounds C57BL/6n
Source Australian Phenomics Facility (APF-G1)
Other variants in this mouse 53 Other Mutations

 Predictions 
Polyphen Score 0.89
Polyphen Prediction Possibly damaging

 Availability Details 
Availability