Akap8l - SNV Details



 Gene Information 
Gene Name Akap8l
Old Gene Names for Akap8l Nakap95
Gene Description A kinase (PRKA) anchor protein 8-like [Source:MGI Symbol;Acc:MGI:1860606]
Uniprot Name
CCDS Name
Gene GO
cytoplasm; kinase activity; poly(A) RNA binding; DNA binding; phosphorylation; protein binding; nucleus; nuclear matrix; biological_process
Homolog in other species AKAP8L
Immgen Expression
MEDIAN
Gnf Expression
MEDIAN(HIGH IN NS GROUP)
Novel Yes

 Mutation Information 
Mutation Type Non-synonymous
Ensembl ID ENSMUSG00000002625
Chromosome 17
Coordinate 32,333,097     (Assembly: GRCm38)    
Ref Base T
Var Base C
Zygosity Heterozygous
Read Depth 21
Allele Frequency
T:R0.48
C:V0.52
Amino Acid Change D->G (Aspartic acid -> Glycine)
Sample ID IGL00590
Median Base Quality 38
Backgrounds C57BL/6n
Source Australian Phenomics Facility (APF-G1)
Other variants in this mouse 34 Other Mutations

 Predictions 
Polyphen Score 1
Polyphen Prediction Probably damaging

 Availability Details 
Availability Cryopreserved , Progeny Cryopreserved