Incidental Mutation 'IGL01943:Uqcrb'
ID 180905
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Uqcrb
Ensembl Gene ENSMUSG00000021520
Gene Name ubiquinol-cytochrome c reductase binding protein
Synonyms QP-C, 2210415M14Rik
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL01943
Quality Score
Status
Chromosome 13
Chromosomal Location 67048681-67053442 bp(-) (GRCm39)
Type of Mutation splice site (4205 bp from exon)
DNA Base Change (assembly) A to T at 67050827 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Gene Model predicted gene model for transcript(s): [ENSMUST00000021993] [ENSMUST00000099412] [ENSMUST00000168767]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000021993
AA Change: W20R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000021993
Gene: ENSMUSG00000021520
AA Change: W20R

DomainStartEndE-ValueType
Pfam:UCR_14kD 8 106 1.2e-44 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000099412
SMART Domains Protein: ENSMUSP00000133648
Gene: ENSMUSG00000074826

DomainStartEndE-ValueType
Pfam:RAM 9 89 1.5e-31 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000168767
SMART Domains Protein: ENSMUSP00000133647
Gene: ENSMUSG00000074826

DomainStartEndE-ValueType
Pfam:RAM 10 87 5.5e-24 PFAM
low complexity region 89 103 N/A INTRINSIC
Predicted Effect probably null
Transcript: ENSMUST00000173891
SMART Domains Protein: ENSMUSP00000133330
Gene: ENSMUSG00000021519

DomainStartEndE-ValueType
Pfam:mTERF 2 67 2.2e-11 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000174606
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a subunit of the ubiquinol-cytochrome c oxidoreductase complex, which consists of one mitochondrial-encoded and 10 nuclear-encoded subunits. The protein encoded by this gene binds ubiquinone and participates in the transfer of electrons when ubiquinone is bound. This protein plays an important role in hypoxia-induced angiogenesis through mitochondrial reactive oxygen species-mediated signaling. Mutations in this gene are associated with mitochondrial complex III deficiency. Alternatively spliced transcript variants have been found for this gene. Related pseudogenes have been identified on chromosomes 1, 5 and X. [provided by RefSeq, Dec 2011]
Allele List at MGI
Other mutations in this stock
Total: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abhd16a A G 17: 35,315,459 (GRCm39) K169E probably benign Het
Ago4 A G 4: 126,410,988 (GRCm39) V167A probably damaging Het
Bcam C T 7: 19,499,423 (GRCm39) R200H probably damaging Het
Cblb G A 16: 51,959,996 (GRCm39) probably null Het
Cdc37 T C 9: 21,054,409 (GRCm39) E72G probably benign Het
Chek2 T A 5: 110,989,093 (GRCm39) probably benign Het
Col6a1 A T 10: 76,554,957 (GRCm39) probably null Het
Col7a1 A G 9: 108,813,084 (GRCm39) probably null Het
Ecpas A G 4: 58,849,937 (GRCm39) F429L possibly damaging Het
Fmo3 C T 1: 162,794,575 (GRCm39) R165H probably benign Het
Gm2663 C T 6: 40,973,010 (GRCm39) G199D probably damaging Het
Gm8108 T C 14: 4,127,217 (GRCm38) S134P probably damaging Het
Kif1b A T 4: 149,299,362 (GRCm39) probably null Het
Krt76 T A 15: 101,797,480 (GRCm39) D293V probably null Het
Lifr T A 15: 7,217,630 (GRCm39) C853S probably damaging Het
Muc5b A T 7: 141,415,234 (GRCm39) I2727F possibly damaging Het
Myo7a T C 7: 97,714,854 (GRCm39) K1606R possibly damaging Het
Noxred1 G T 12: 87,269,955 (GRCm39) Q259K probably benign Het
Obox3 C T 7: 15,360,777 (GRCm39) E121K probably benign Het
Or14j1 G A 17: 38,145,944 (GRCm39) R18H probably benign Het
Or1j19 T C 2: 36,677,095 (GRCm39) I186T probably benign Het
Or2y16 T A 11: 49,335,015 (GRCm39) C112* probably null Het
Or5b24 T C 19: 12,913,038 (GRCm39) L312S probably benign Het
Phf11 A T 14: 59,488,611 (GRCm39) V62E probably damaging Het
Pkd2l2 T C 18: 34,550,089 (GRCm39) F245L probably damaging Het
Pla2g6 T C 15: 79,197,316 (GRCm39) Q86R probably null Het
Polq T A 16: 36,881,805 (GRCm39) I1044K possibly damaging Het
Pomgnt2 G T 9: 121,811,536 (GRCm39) T415N probably benign Het
Pprc1 T A 19: 46,052,983 (GRCm39) probably benign Het
Prol1 T A 5: 88,475,820 (GRCm39) M70K probably benign Het
Ptpn22 T A 3: 103,793,652 (GRCm39) V601E probably benign Het
Slc16a3 T C 11: 120,847,709 (GRCm39) probably null Het
Slco1b2 A G 6: 141,622,012 (GRCm39) D489G possibly damaging Het
Sphk2 T C 7: 45,360,148 (GRCm39) probably benign Het
Stat4 C T 1: 52,136,014 (GRCm39) T441I possibly damaging Het
Tle1 A T 4: 72,040,639 (GRCm39) V647E probably damaging Het
Tnrc6b C A 15: 80,811,896 (GRCm39) Y814* probably null Het
Tubgcp3 A G 8: 12,704,301 (GRCm39) F256S probably damaging Het
Vmn1r200 A T 13: 22,580,097 (GRCm39) E300V possibly damaging Het
Zfp324 C T 7: 12,702,713 (GRCm39) probably benign Het
Zxdc T C 6: 90,349,520 (GRCm39) probably benign Het
Other mutations in Uqcrb
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01568:Uqcrb APN 13 67,049,459 (GRCm39) unclassified probably benign
IGL02323:Uqcrb APN 13 67,050,874 (GRCm39) unclassified probably benign
R4656:Uqcrb UTSW 13 67,049,603 (GRCm39) missense probably benign 0.10
R5464:Uqcrb UTSW 13 67,048,889 (GRCm39) missense probably damaging 0.96
R6841:Uqcrb UTSW 13 67,048,827 (GRCm39) unclassified probably benign
R8410:Uqcrb UTSW 13 67,048,850 (GRCm39) missense unknown
R9008:Uqcrb UTSW 13 67,053,363 (GRCm39) missense probably benign 0.00
Posted On 2014-05-07