Mcm5 - SNV Details



 Gene Information 
Gene Name Mcm5
Old Gene Names for Mcm5 Aa617332 , Ai324988 , Al033333 , Cdc46 , Mcmd5
Gene Description minichromosome maintenance deficient 5, cell division cycle 46 (S. cerevisiae) [Source:MGI Symbol;Acc:MGI:103197]
Uniprot Name
CCDS Name
Gene GO
cell division; DNA replication; MCM complex; DNA binding; protein binding; nucleus; DNA replication initiation; ATP binding
Homolog in other species MCM5
Omim http://omim.org/entry/602696
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
HIGH(HIGHER IN IMM.G1, IMM.G3, AND EMB GROUP)
Novel Yes

 Mutation Information 
Mutation Type Non-synonymous
Ensembl ID ENSMUSG00000005410
Chromosome 8
Coordinate 75,114,233     (Assembly: GRCm38)    
Ref Base T
Var Base A
Zygosity Heterozygous
Read Depth 21
Allele Frequency
T:R0.38
A:V0.62
Amino Acid Change V->E (Valine -> Glutamic acid)
Sample ID IGL02534
Median Base Quality 39
Backgrounds C57BL/6NCrl
Source Australian Phenomics Facility (APF-G1)
Other variants in this mouse 33 Other Mutations

 Predictions 
Polyphen Score 0.99
Polyphen Prediction Probably damaging

 Availability Details 
Availability