Incidental Mutation 'R7108:Cox6b1'
ID 551320
Institutional Source Beutler Lab
Gene Symbol Cox6b1
Ensembl Gene ENSMUSG00000036751
Gene Name cytochrome c oxidase, subunit VIb polypeptide 1
MMRRC Submission 045200-MU
Accession Numbers
Essential gene? Not available question?
Stock # R7108 (G1)
Quality Score 225.009
Status Not validated
Chromosome 7
Chromosomal Location 30616861-30626151 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) A to G at 30623504 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Cysteine to Arginine at position 40 (C40R)
Ref Sequence ENSEMBL: ENSMUSP00000075150 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000075738] [ENSMUST00000208838]
AlphaFold P56391
Predicted Effect possibly damaging
Transcript: ENSMUST00000075738
AA Change: C40R

PolyPhen 2 Score 0.881 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000075150
Gene: ENSMUSG00000036751
AA Change: C40R

Pfam:COX6B 19 83 1.9e-21 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000208838
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.0%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Cytochrome c oxidase (COX), the terminal enzyme of the mitochondrial respiratory chain, catalyzes the electron transfer from reduced cytochrome c to oxygen. It is a heteromeric complex consisting of 3 catalytic subunits encoded by mitochondrial genes and multiple structural subunits encoded by nuclear genes. The mitochondrially-encoded subunits function in electron transfer, and the nuclear-encoded subunits may be involved in the regulation and assembly of the complex. This nuclear gene encodes subunit VIb. Mutations in this gene are associated with severe infantile encephalomyopathy. Three pseudogenes COX6BP-1, COX6BP-2 and COX6BP-3 have been found on chromosomes 7, 17 and 22q13.1-13.2, respectively. [provided by RefSeq, Jan 2010]
Allele List at MGI
Other mutations in this stock
Total: 80 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2810021J22Rik T C 11: 58,880,924 (GRCm38) S411P probably damaging Het
4930503L19Rik A T 18: 70,468,476 (GRCm38) Y112N probably benign Het
Abcd2 A T 15: 91,191,274 (GRCm38) V112E probably benign Het
Acadm A T 3: 153,925,800 (GRCm38) Y353* probably null Het
Adra2c A G 5: 35,279,998 (GRCm38) D38G probably benign Het
Ankrd10 C T 8: 11,612,624 (GRCm38) G370R probably damaging Het
Arfgef2 T A 2: 166,873,608 (GRCm38) N1324K possibly damaging Het
Atp6v1b2 A G 8: 69,102,501 (GRCm38) T172A probably damaging Het
BC003331 T C 1: 150,382,290 (GRCm38) Y198C probably benign Het
Bloc1s1 T A 10: 128,922,723 (GRCm38) K22M possibly damaging Het
Brpf3 A G 17: 28,817,125 (GRCm38) T599A probably benign Het
Cacna1e TTCCAGTCTC TTC 1: 154,468,995 (GRCm38) probably null Het
Casc1 G A 6: 145,185,865 (GRCm38) Q351* probably null Het
Ccdc186 T C 19: 56,798,760 (GRCm38) D592G probably damaging Het
Cfap161 A T 7: 83,793,310 (GRCm38) D98E possibly damaging Het
Cfi G A 3: 129,875,016 (GRCm38) V564M probably damaging Het
Cilp2 T A 8: 69,881,129 (GRCm38) Q1073L probably damaging Het
Cyp3a59 A T 5: 146,096,333 (GRCm38) M172L probably benign Het
Cyth1 T C 11: 118,182,913 (GRCm38) D198G probably damaging Het
Daam2 T C 17: 49,460,674 (GRCm38) D963G probably damaging Het
Ddi2 A T 4: 141,705,937 (GRCm38) D209E probably benign Het
Dnah12 G A 14: 26,778,912 (GRCm38) probably null Het
Dpagt1 G T 9: 44,327,021 (GRCm38) probably benign Het
Drc3 T A 11: 60,370,554 (GRCm38) F177Y probably benign Het
Dsg2 T C 18: 20,601,863 (GRCm38) V966A probably damaging Het
E430018J23Rik A G 7: 127,391,523 (GRCm38) S431P probably benign Het
E4f1 A G 17: 24,444,578 (GRCm38) V633A probably damaging Het
Eif2ak2 T A 17: 78,858,536 (GRCm38) R411* probably null Het
Frem2 T C 3: 53,653,513 (GRCm38) E1191G probably damaging Het
Fry T A 5: 150,491,090 (GRCm38) C467S Het
Fry T C 5: 150,395,786 (GRCm38) V972A probably damaging Het
Fscn1 T C 5: 142,960,515 (GRCm38) Y23H probably damaging Het
Gm16506 T A 14: 43,724,302 (GRCm38) I163F Het
Gm21103 T C 14: 6,303,774 (GRCm38) Y92C probably damaging Het
Golgb1 A G 16: 36,913,721 (GRCm38) H1151R probably benign Het
Gprc5c T C 11: 114,864,282 (GRCm38) Y262H probably damaging Het
Hc G T 2: 35,039,694 (GRCm38) N245K probably benign Het
Hps6 T A 19: 46,005,490 (GRCm38) L622Q probably damaging Het
Hsd17b1 T C 11: 101,079,209 (GRCm38) Y156H probably damaging Het
Ireb2 T A 9: 54,906,641 (GRCm38) F799L probably damaging Het
Irf1 A G 11: 53,774,412 (GRCm38) D205G probably damaging Het
Kif12 A T 4: 63,171,205 (GRCm38) F103L probably benign Het
Krt12 C T 11: 99,416,052 (GRCm38) V475M unknown Het
Lca5 T A 9: 83,423,169 (GRCm38) T195S probably benign Het
Lrrc17 T C 5: 21,575,339 (GRCm38) V437A possibly damaging Het
Malt1 G T 18: 65,464,051 (GRCm38) D468Y probably damaging Het
Man2b2 C T 5: 36,815,485 (GRCm38) A562T probably benign Het
Mrc1 C T 2: 14,304,146 (GRCm38) Q794* probably null Het
Muc16 T A 9: 18,655,233 (GRCm38) I1997L unknown Het
Muc6 AGGCGCAGAAACCCTGGC AGGC 7: 141,634,450 (GRCm38) probably null Het
Mycbp2 A T 14: 103,122,603 (GRCm38) F4518Y probably damaging Het
Myo5a T A 9: 75,129,992 (GRCm38) I159N probably damaging Het
Nat1 T C 8: 67,491,020 (GRCm38) V19A probably benign Het
Ndst4 A G 3: 125,561,471 (GRCm38) T343A probably damaging Het
Nlrp9b A T 7: 20,045,930 (GRCm38) L839F probably damaging Het
Nxnl1 A G 8: 71,566,554 (GRCm38) I9T probably benign Het
Olfr1351 C A 10: 79,017,649 (GRCm38) S109* probably null Het
Olfr331 T A 11: 58,502,554 (GRCm38) M7L probably benign Het
Olfr364-ps1 C T 2: 37,146,260 (GRCm38) T16I probably benign Het
Olfr548-ps1 A T 7: 102,541,992 (GRCm38) I19F probably damaging Het
Olfr693 G A 7: 106,678,048 (GRCm38) A146V probably benign Het
Pou5f2 T C 13: 78,025,265 (GRCm38) S109P possibly damaging Het
Prkcz G A 4: 155,286,793 (GRCm38) Q321* probably null Het
Prr18 G T 17: 8,341,531 (GRCm38) R173L probably damaging Het
Ralgapb A T 2: 158,494,662 (GRCm38) I1407F probably damaging Het
Ralgapb T C 2: 158,492,460 (GRCm38) Y1364H probably damaging Het
Sacs T A 14: 61,211,009 (GRCm38) Y3501* probably null Het
Sall3 G A 18: 80,973,754 (GRCm38) P320S probably benign Het
Scn8a A T 15: 101,039,778 (GRCm38) H1676L probably benign Het
Shmt1 T C 11: 60,798,644 (GRCm38) D178G probably damaging Het
Slmap T C 14: 26,422,521 (GRCm38) K737R probably benign Het
Ssh2 G A 11: 77,454,794 (GRCm38) V1202I probably benign Het
Stard7 A G 2: 127,295,494 (GRCm38) D288G possibly damaging Het
Tek A T 4: 94,853,487 (GRCm38) D827V probably damaging Het
Tfap2e A G 4: 126,720,563 (GRCm38) L276P probably damaging Het
Tns3 T C 11: 8,437,251 (GRCm38) N1312S probably benign Het
Tubd1 T A 11: 86,557,805 (GRCm38) S315T probably damaging Het
Ube2f T A 1: 91,265,219 (GRCm38) C50* probably null Het
Vmn2r109 T C 17: 20,564,744 (GRCm38) I5V probably benign Het
Vmn2r39 T C 7: 9,023,668 (GRCm38) T445A probably damaging Het
Other mutations in Cox6b1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01299:Cox6b1 APN 7 30,617,128 (GRCm38) missense possibly damaging 0.88
IGL01646:Cox6b1 APN 7 30,624,504 (GRCm38) nonsense probably null
Predicted Primers PCR Primer

Sequencing Primer
Posted On 2019-05-15