Uqcrfs1 - SNV Details



 Gene Information 
Gene Name Uqcrfs1
Old Gene Names for Uqcrfs1 4430402g14rik , Ai875505
Gene Description ubiquinol-cytochrome c reductase, Rieske iron-sulfur polypeptide 1 [Source:MGI Symbol;Acc:MGI:1913944]
MGI phenotype Mutant mice harboring a 3' UTR insertion that reduces expression specifically in skin acquire dark patches in the dorsal brown coat at 4-7 months of age. In heterozygotes, the dark patches eventually fill the entire dorsal region; in homozygotes, the dark patches eventually turn grey.
Uniprot Name
CCDS Name
Gene GO
oxidation-reduction process; mitochondrion; ubiquinol-cytochrome-c reductase activity; oxidoreductase activity; integral to membrane; response to hormone stimulus; mitochondrial respiratory chain complex III; metal ion binding; protein binding; mitochondrial inner membrane; response to drug; protein complex binding; response to antibiotic; mitochondrial membrane; electron transport chain; 2 iron
2 sulfur cluster binding
Homolog in other species UQCRFS1
Omim http://omim.org/entry/191327
Immgen Expression
MEDIAN(HIGHER IN B.GC.SP, PROB.FRBC.FL, PREB.FRD.FL, DC8+.TH, T.8EFF.SP.OT1.D6.VSVOVA, TGD.TH, DC.LC.SK, MF.THIO5.II-480HI.PC, MO.6C+II-.LN)
Gnf Expression
MEDIAN
HIGH(LOWER IN FERTILIZEDEGG, OOCYTE, MACROPHAGE_7HRLPS, SPLEEN, PLACENTA)
Novel Yes

 Mutation Information 
Mutation Type Non-synonymous
Ensembl ID ENSMUSG00000038462
Chromosome 13
Coordinate 30,540,921     (Assembly: GRCm38)    
Ref Base A
Codon Change aTt/aCt
Var Base G
Zygosity Heterozygous
Read Depth 14
Allele Frequency
A:R0.43
G:V0.57
Amino Acid Position 212
Amino Acid Change I->T (Isoleucine -> Threonine)
Sample ID IGL01318
Median Base Quality 40
Backgrounds C57BL/6NCrl
Source Australian Phenomics Facility (APF-G1)
Other variants in this mouse 41 Other Mutations

 Predictions 
Polyphen Score 0.1
Polyphen Prediction Benign
Sift Score 0
Sift Prediction deleterious

 Protein domains 
ENSMUSP00000045284:
Image provided by Ensembl

Full name Short name Interpro SeqRegionName Type Start End Description Search pathways
Ubiquinol-cytochrome c reductase, iron-sulphur subunit Ubiquinol_cyt_c_Rdtase_Fe-S-su IPR006317 ENSMUSP00000045284 TIGRfam 114
274 Description available Search pathways
Rieske [2Fe-2S] iron-sulphur domain Rieske_2Fe-2S IPR017941 ENSMUSP00000045284 Pfam 177
264 Description available Search pathways
Rieske [2Fe-2S] iron-sulphur domain Rieske_2Fe-2S IPR017941 ENSMUSP00000045284 Superfamily 133
272 Description available Search pathways

 Availability Details 
Availability Progeny Cryopreserved