Rad54l - SNV Details



 Gene Information 
Gene Name Rad54l
Gene Description RAD54 like (S. cerevisiae) [Source:MGI Symbol;Acc:MGI:894697]
MGI phenotype Mice homozygous for disruptions in this gene have an increased sensitivity to crosslinking agents and to ionizing radiation but outherwise have a normal phenotype.
Uniprot Name
CCDS Name
Gene GO
response to ionizing radiation; hydrolase activity
acting on acid anhydrides; helicase activity; annealing helicase activity; hydrolase activity; DNA binding; protein binding; nucleus; DNA strand renaturation; double-strand break repair via homologous recombination; double-strand break repair; response to drug; nucleic acid binding; ATP binding; chromosome organization; cellular response to DNA damage stimulus
Homolog in other species RAD54L
Omim http://omim.org/entry/603615
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)
Gnf Expression
MEDIAN(HIGH IN TESTIS, FERTILIZEDEGG, OOCYTE, IMM GROUP, OSTEO GROUP, EMB GROUP)
Novel Yes

 Mutation Information 
Mutation Type Non-synonymous
Ensembl ID ENSMUSG00000028702
Chromosome 4
Coordinate 116,122,949     (Assembly: GRCm38)    
Ref Base T
Var Base C
Zygosity Heterozygous
Read Depth 79
Allele Frequency
T:R0.43
C:V0.57
Amino Acid Change R->G (Arginine -> Glycine)
Sample ID IGL02728
Median Base Quality 39
Source Australian Phenomics Facility (APF-G1)
Other variants in this mouse 73 Other Mutations

 Predictions 
Polyphen Score 0.48
Polyphen Prediction Possibly damaging

 Availability Details 
Availability Cryopreserved