Incidental Mutation 'IGL01797:Uqcr10'
ID 155384
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Uqcr10
Ensembl Gene ENSMUSG00000059534
Gene Name ubiquinol-cytochrome c reductase, complex III subunit X
Synonyms 1110020P15Rik
Accession Numbers
Essential gene? Not available question?
Stock # IGL01797
Quality Score
Status
Chromosome 11
Chromosomal Location 4651973-4654342 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to C at 4654179 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Serine at position 43 (I43S)
Ref Sequence ENSEMBL: ENSMUSP00000054856 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000009220] [ENSMUST00000058407]
AlphaFold Q8R1I1
Predicted Effect probably benign
Transcript: ENSMUST00000009220
SMART Domains Protein: ENSMUSP00000009220
Gene: ENSMUSG00000009076

DomainStartEndE-ValueType
Pfam:zf-U1 2 38 6.5e-10 PFAM
ZnF_C3H1 52 78 2.3e-5 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000058407
AA Change: I43S

PolyPhen 2 Score 0.912 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000054856
Gene: ENSMUSG00000059534
AA Change: I43S

DomainStartEndE-ValueType
Pfam:UCR_UQCRX_QCR9 8 60 9e-30 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000130236
Predicted Effect noncoding transcript
Transcript: ENSMUST00000151559
Predicted Effect noncoding transcript
Transcript: ENSMUST00000154341
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] UCRC is a subunit of mitochondrial complex III (ubiquinol-cytochrome c reductase; EC 1.10.2.2), which forms the middle segment of the respiratory chain of the inner mitochondrial membrane (Schagger et al., 1995 [PubMed 8592474]).[supplied by OMIM, Mar 2008]
Allele List at MGI
Other mutations in this stock
Total: 31 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca16 T C 7: 120,113,760 (GRCm39) V877A probably benign Het
Clcn2 T C 16: 20,531,511 (GRCm39) I178V probably damaging Het
Cnbp A G 6: 87,822,542 (GRCm39) probably benign Het
Coq8a A T 1: 179,997,284 (GRCm39) probably null Het
Dctn2 A G 10: 127,113,182 (GRCm39) D244G possibly damaging Het
Dync1h1 T A 12: 110,618,630 (GRCm39) probably null Het
Efcab15 T C 11: 103,089,794 (GRCm39) Y381C probably damaging Het
Faiml T C 9: 99,116,442 (GRCm39) K83E probably damaging Het
Fdx1 A T 9: 51,854,925 (GRCm39) C159* probably null Het
Fgd3 A T 13: 49,443,065 (GRCm39) V169E probably damaging Het
Ice1 G T 13: 70,772,065 (GRCm39) T51K probably damaging Het
Iqca1 A C 1: 90,072,541 (GRCm39) probably null Het
Jup C A 11: 100,272,498 (GRCm39) probably benign Het
Krt84 A G 15: 101,436,915 (GRCm39) V373A possibly damaging Het
Ndst4 T A 3: 125,476,802 (GRCm39) M9K probably damaging Het
Nomo1 T C 7: 45,706,086 (GRCm39) V480A probably damaging Het
Nsun5 A G 5: 135,404,225 (GRCm39) H344R probably damaging Het
Or13a21 A G 7: 139,998,931 (GRCm39) Y252H probably damaging Het
Or1e1f A T 11: 73,855,644 (GRCm39) D70V probably damaging Het
Pjvk T C 2: 76,487,883 (GRCm39) probably benign Het
Prkaa1 G A 15: 5,198,187 (GRCm39) D159N probably damaging Het
Sap130 T A 18: 31,831,721 (GRCm39) I736N probably damaging Het
Tlcd1 A G 11: 78,071,160 (GRCm39) probably null Het
Tpp1 T C 7: 105,398,459 (GRCm39) I286V probably benign Het
Ttll5 T A 12: 86,003,371 (GRCm39) I1069K possibly damaging Het
Ttn T G 2: 76,540,257 (GRCm39) E34243A possibly damaging Het
Ush2a T A 1: 187,995,706 (GRCm39) M159K probably damaging Het
Vmn2r121 G A X: 123,041,048 (GRCm39) probably benign Het
Vmn2r30 T A 7: 7,337,195 (GRCm39) D147V probably benign Het
Xntrpc T C 7: 101,739,753 (GRCm39) I559T possibly damaging Het
Zfp268 T A 4: 145,347,241 (GRCm39) N48K probably damaging Het
Other mutations in Uqcr10
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02312:Uqcr10 APN 11 4,654,153 (GRCm39) splice site probably null
R4852:Uqcr10 UTSW 11 4,652,198 (GRCm39) missense possibly damaging 0.89
Z1176:Uqcr10 UTSW 11 4,652,222 (GRCm39) critical splice acceptor site probably null
Posted On 2014-02-04