Incidental Mutation 'R8410:Uqcrb'
ID 652641
Institutional Source Beutler Lab
Gene Symbol Uqcrb
Ensembl Gene ENSMUSG00000021520
Gene Name ubiquinol-cytochrome c reductase binding protein
Synonyms QP-C, 2210415M14Rik
MMRRC Submission 067880-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R8410 (G1)
Quality Score 225.009
Status Validated
Chromosome 13
Chromosomal Location 67048681-67053442 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 67048850 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Leucine at position 100 (R100L)
Ref Sequence ENSEMBL: ENSMUSP00000021993 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000021993] [ENSMUST00000099412] [ENSMUST00000168767]
AlphaFold no structure available at present
Predicted Effect unknown
Transcript: ENSMUST00000021993
AA Change: R100L
SMART Domains Protein: ENSMUSP00000021993
Gene: ENSMUSG00000021520
AA Change: R100L

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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.0%
Validation Efficiency 95% (40/42)
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: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700001K19Rik A T 12: 110,635,145 (GRCm39) M131K probably benign Het
Alox15 T C 11: 70,235,753 (GRCm39) T569A probably benign Het
Arfgef1 A G 1: 10,229,867 (GRCm39) V1278A possibly damaging Het
Armc5 C T 7: 127,839,323 (GRCm39) R214C probably damaging Het
Asl A G 5: 130,042,351 (GRCm39) F242L possibly damaging Het
Atoh1 G A 6: 64,706,634 (GRCm39) G110S probably benign Het
Caskin1 T C 17: 24,721,123 (GRCm39) F488L possibly damaging Het
Chsy1 T A 7: 65,775,211 (GRCm39) L180Q probably damaging Het
D1Pas1 A T 1: 186,700,512 (GRCm39) Q147L probably benign Het
D930020B18Rik A G 10: 121,521,435 (GRCm39) probably benign Het
Dnah7b T A 1: 46,395,819 (GRCm39) probably null Het
Dsp A G 13: 38,380,791 (GRCm39) E2512G possibly damaging Het
Eci2 T C 13: 35,162,018 (GRCm39) K351R probably benign Het
Frem2 A G 3: 53,446,598 (GRCm39) V2390A possibly damaging Het
Frmpd2 G A 14: 33,217,624 (GRCm39) A40T probably damaging Het
Gapdhs G A 7: 30,437,335 (GRCm39) P77S unknown Het
Heatr5a T A 12: 51,984,903 (GRCm39) I637F probably benign Het
Jakmip1 G A 5: 37,274,828 (GRCm39) V449M possibly damaging Het
Myh14 G T 7: 44,282,907 (GRCm39) F737L probably damaging Het
Nbea A G 3: 55,944,684 (GRCm39) V560A probably damaging Het
Or13n4 T A 7: 106,423,745 (GRCm39) probably benign Het
Or2v2 A T 11: 49,004,511 (GRCm39) I14N possibly damaging Het
Or4f4-ps1 T A 2: 111,330,047 (GRCm39) M150K probably damaging Het
Or6x1 C T 9: 40,098,732 (GRCm39) T107I possibly damaging Het
Prex2 G T 1: 11,223,881 (GRCm39) R735L possibly damaging Het
Rrm2 T C 12: 24,758,622 (GRCm39) S55P probably benign Het
Rsf1 CGGCGGCGG CGGCGGCGGGGGCGGCGG 7: 97,229,124 (GRCm39) probably benign Het
Ruvbl2 T C 7: 45,080,756 (GRCm39) I19V probably benign Het
Sall3 G A 18: 81,016,969 (GRCm39) P320S probably benign Het
Slc15a5 A T 6: 137,989,153 (GRCm39) M147K Het
St3gal5 A G 6: 72,119,281 (GRCm39) D158G probably benign Het
Stac3 G A 10: 127,339,199 (GRCm39) D103N probably damaging Het
Syt2 G A 1: 134,674,602 (GRCm39) E347K possibly damaging Het
Tent5b A G 4: 133,214,362 (GRCm39) Q411R possibly damaging Het
Ticrr A G 7: 79,317,423 (GRCm39) E319G probably damaging Het
Ttn A G 2: 76,539,985 (GRCm39) S34334P probably damaging Het
Usp43 T G 11: 67,747,146 (GRCm39) T854P probably damaging Het
Vmn2r102 T C 17: 19,898,196 (GRCm39) Y404H possibly damaging Het
Wrn C T 8: 33,759,048 (GRCm39) G970D probably damaging Het
Zfp456 A G 13: 67,520,915 (GRCm39) Y27H probably damaging Het
Zfp516 G T 18: 82,974,458 (GRCm39) G219C probably damaging Het
Zyx A T 6: 42,333,384 (GRCm39) N437Y probably benign Het
Other mutations in Uqcrb
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01568:Uqcrb APN 13 67,049,459 (GRCm39) unclassified probably benign
IGL01943:Uqcrb APN 13 67,050,827 (GRCm39) splice site probably null
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
R9008:Uqcrb UTSW 13 67,053,363 (GRCm39) missense probably benign 0.00
Predicted Primers PCR Primer
(F):5'- GACAGTAGGCGTTTGAATTGAATTC -3'
(R):5'- AGGCATTGTACACCTTCTCCTG -3'

Sequencing Primer
(F):5'- TGTGGCATAGGTAGAACAAA -3'
(R):5'- GCTCACTGCATGATCTTTCAGAGG -3'
Posted On 2020-10-20