Ak5 - SNV Details



 Gene Information 
Gene Name Ak5
Gene Description adenylate kinase 5 [Source:MGI Symbol;Acc:MGI:2677491]
Uniprot Name
CCDS Name
Gene GO
nucleoside kinase activity; cytoplasm; signal transduction; nucleobase-containing compound kinase activity; cAMP-dependent protein kinase regulator activity; nucleobase-containing compound metabolic process; ATP metabolic process; ATP binding; adenylate kinase activity; centrosome
Homolog in other species AK5
Omim http://omim.org/entry/608009
Immgen Expression
MEDIAN(HIGHER IN NK GROUP, T.8MEM.LN, TGD.SPT.4NVE.PP, T.4FP3+25+.SP)
Gnf Expression
MEDIAN(HIGH IN CEREBELLUM, OLFACTORYBULB, DORSALROOTGANGLION, HIPPOCAMPUS, AMYGDALA, FRONTALCORTEX, CEREBRALCORTEX, CORTEX, PREOPTIC, SUBSTANTIANIGRA, HYPOTHALAMUS)
Novel Yes

 Mutation Information 
Mutation Type Non-synonymous
Ensembl ID ENSMUSG00000039058
Chromosome 3
Coordinate 152,499,343     (Assembly: GRCm38)    
Ref Base T
Codon Change gAt/gTt
Var Base A
Zygosity Heterozygous
Read Depth 78
Allele Frequency
T:R0.42
A:V0.58
Amino Acid Position 372
Amino Acid Change D->V (Aspartic acid -> Valine)
Sample ID IGL02237
Median Base Quality 36.5
Backgrounds C57BL/6NCrl
Source Australian Phenomics Facility (APF-G1)
Other variants in this mouse 54 Other Mutations

 Predictions 
Polyphen Score 0
Polyphen Prediction Benign
Sift Score 0.04
Sift Prediction deleterious

 Availability Details 
Availability Cryopreserved , Progeny Cryopreserved