Gen1 - SNV Details



 Gene Information 
Gene Name Gen1
Old Gene Names for Gen1 5830483c08rik
Gene Description Gen homolog 1, endonuclease (Drosophila) [Source:MGI Symbol;Acc:MGI:2443149]
Uniprot Name
CCDS Name
Gene GO
nuclease activity; resolution of recombination intermediates; DNA catabolic process
endonucleolytic; catalytic activity; resolution of mitotic recombination intermediates; metal ion binding; DNA repair; DNA binding; positive regulation of mitotic cell cycle spindle assembly checkpoint; nucleus; double-strand break repair via homologous recombination; extracellular vesicular exosome; crossover junction endodeoxyribonuclease activity; regulation of centrosome duplication; centrosome
Homolog in other species GEN1
Omim http://omim.org/entry/612449
Immgen Expression
MEDIAN(HIGH IN B.GC.SP, PROB.FRBC.FL, PREB.FRD.FL, DC8+.TH, TGD.VG5+.ACT.IEL, NK.MCMV1.SP, T.8EFF.SP.OT1.D6.VSVOVA, TGD.TH, T.4SP24-.TH, T.8SP24-.TH, DC.LC.SK)
Novel Yes

 Mutation Information 
Mutation Type Non-synonymous
Ensembl ID ENSMUSG00000051235
Chromosome 12
Coordinate 11,241,575     (Assembly: GRCm38)    
Ref Base A
Var Base G
Zygosity Heterozygous
Read Depth 43
Allele Frequency
A:R0.37
G:V0.63
Amino Acid Change S->P (Serine -> Proline)
Sample ID IGL02690
Median Base Quality 39
Source Australian Phenomics Facility (APF-G1)
Other variants in this mouse 44 Other Mutations

 Predictions 
Polyphen Score 0.71
Polyphen Prediction Possibly damaging

 Availability Details 
Availability Cryopreserved