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-(apurinic or apyrimidinic site) lyase activity; metal ion binding; single strand break repair; endodeoxyribonuclease activity; protein binding; nucleus; cytosol; double-strand break repair; response to DNA damage stimulus; nucleotide binding; 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 Non-synonymous
Ensembl ID ENSMUSG00000030051
Chromosome 6
Coordinate 87,641,900     (Assembly: GRCm38)    
Ref Base A
Codon Change Tct/Gct
Var Base C
Zygosity Heterozygous
Read Depth 33
Allele Frequency
A:R0.52
C:V0.48
Amino Acid Position 421
Amino Acid Change S->A (Serine -> Alanine)
Sample ID IGL01304
Median Base Quality 37
Backgrounds C57BL/6NCrl
Source Australian Phenomics Facility (APF-G1)
Other variants in this mouse 44 Other Mutations

 Predictions 
Polyphen Score 0.92
Polyphen Prediction Possibly damaging
Sift Score 0.46
Sift Prediction tolerated

 Availability Details 
Availability Progeny Cryopreserved