Peo1 - SNV Details



 Gene Information 
Gene Name Peo1
Old Gene Names for Peo1 D19ertd626e , Twinl
Gene Description progressive external ophthalmoplegia 1 (human) [Source:MGI Symbol;Acc:MGI:2137410]
Uniprot Name
CCDS Name
Gene GO
mitochondrion; mitochondrial nucleoid; protease binding; DNA replication; DNA helicase activity; 5'-3' DNA helicase activity; transcription from mitochondrial promoter; protein homooligomerization; ATP binding; DNA unwinding involved in replication; mitochondrial DNA replication; protein hexamerization; single-stranded DNA binding
Homolog in other species C10ORF2
Omim http://omim.org/entry/606075
Immgen Expression
MEDIAN(LOW IN GN.BM, HIGH IN B.GC.SP, PROB.FRBC.FL)
Gnf Expression
MEDIAN
Novel Yes

 Mutation Information 
Mutation Type Non-synonymous
Ensembl ID ENSMUSG00000025209
Chromosome 19
Coordinate 45,010,188     (Assembly: GRCm38)    
Ref Base T
Codon Change gTc/gGc
Var Base G
Zygosity Heterozygous
Read Depth 30
Allele Frequency
T:R0.50
G:V0.50
Amino Acid Position 515
Amino Acid Change V->G (Valine -> Glycine)
Sample ID IGL01736
Median Base Quality 38.5
Backgrounds C57BL/6NCrl
Source Australian Phenomics Facility (APF-G1)
Other variants in this mouse 43 Other Mutations

 Predictions 
Polyphen Score 0.97
Polyphen Prediction Probably damaging
Sift Score 0
Sift Prediction deleterious

 Protein domains 
ENSMUSP00000026227:
Image provided by Ensembl

Full name Short name Interpro SeqRegionName Type Start End Description Search pathways
DNA helicase, DnaB-like, C-terminal DNA_helicase_DnaB-like_C IPR007694 ENSMUSP00000026227 Pfam 394
554 Description available Search pathways
P-loop containing nucleoside triphosphate hydrolase P-loop_NTPase IPR027417 ENSMUSP00000026227 Superfamily 396
622 Description available Search pathways
DNA helicase, DnaB-like, C-terminal DNA_helicase_DnaB-like_C IPR007694 ENSMUSP00000026227 Prosite_profiles 385
636 Description available Search pathways
Circadian clock protein KaiC/DNA repair protein RadA Circ_KaiC/RadA IPR014774 ENSMUSP00000026227 Pfam 398
611 Description available Search pathways

 Availability Details 
Availability Cryopreserved , Progeny Cryopreserved