Rfc3 - SNV Details



 Gene Information 
Gene Name Rfc3
Old Gene Names for Rfc3 2810416i22rik , Au022547 , Recc3
Gene Description replication factor C (activator 1) 3 [Source:MGI Symbol;Acc:MGI:1916513]
Uniprot Name
CCDS Name
Gene GO
ATPase activity; response to organophosphorus; DNA replication; DNA binding; nucleoside-triphosphatase activity; protein binding; nucleus; nucleotide binding; ATP binding; ATP catabolic process
Homolog in other species RFC3
Omim http://omim.org/entry/600405
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 ENSMUSG00000033970
Chromosome 5
Coordinate 151,651,131     (Assembly: GRCm38)    
Ref Base A
Codon Change Tac/Cac
Var Base G
Zygosity Heterozygous
Read Depth 62
Allele Frequency
A:R0.60
G:V0.40
Amino Acid Position 8
Amino Acid Change Y->H (Tyrosine -> Histidine)
Sample ID IGL02429
Median Base Quality 35
Backgrounds C57BL/6NCrl
Source Australian Phenomics Facility (APF-G1)
Other variants in this mouse 56 Other Mutations

 Predictions 
Polyphen Score 0
Polyphen Prediction Benign
Sift Score 0.45
Sift Prediction tolerated

 Availability Details 
Availability Progeny Cryopreserved