Aplf - SNV Details



 Gene Information 
Gene Name Aplf
Old Gene Names for Aplf 2010301n04rik , Ai452191
Gene Description aprataxin and PNKP like factor [Source:MGI Symbol;Acc:MGI:1919353]
MGI phenotype Mice homozygous for a gene trap allele exhibit decreased repair of gamma irradiation-induced DNA damage and increased microhomology at class switch recombination junctions in B cells.
Uniprot Name
CCDS Name
Gene GO
DNA catabolic process
endonucleolytic; regulation of isotype switching; DNA-(apurinic or apyrimidinic site) lyase activity; metal ion binding; single strand break repair; endodeoxyribonuclease activity; protein binding; nucleus; cytosol; site of double-strand break; double-strand break repair; positive regulation of DNA ligation; nucleotide binding; nucleic acid phosphodiester bond hydrolysis; cellular response to DNA damage stimulus; 3'-5' exonuclease activity
Homolog in other species APLF
Immgen Expression
MEDIAN(HIGH IN B.GC.SP, PROB.FRBC.FL, PREB.FRD.FL)
Novel Yes

 Mutation Information 
Mutation Type Splice
Ensembl ID ENSMUSG00000030051
Chromosome 6
Coordinate 87,668,408     (Assembly: GRCm38)    
Ref Base A
Var Base G
Zygosity Heterozygous
Read Depth 26
Allele Frequency
A:R0.54
G:V0.46
Amino Acid Change Disrupted splicing
Splice Position 8
Sample ID IGL00514
Median Base Quality 36
Backgrounds C57BL/6n
Source Australian Phenomics Facility (APF-G1)
Other variants in this mouse 37 Other Mutations

 Predictions 

 Availability Details 
Availability Progeny Cryopreserved