Incidental Mutation 'IGL01646:Cox6b1'
ID 102659
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Cox6b1
Ensembl Gene ENSMUSG00000036751
Gene Name cytochrome c oxidase, subunit 6B1
Synonyms 2010000G05Rik
Accession Numbers
Essential gene? Not available question?
Stock # IGL01646
Quality Score
Status
Chromosome 7
Chromosomal Location 30316396-30325539 bp(-) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) G to T at 30323929 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Stop codon at position 34 (Y34*)
Ref Sequence ENSEMBL: ENSMUSP00000075150 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000075738] [ENSMUST00000208838]
AlphaFold P56391
Predicted Effect probably null
Transcript: ENSMUST00000075738
AA Change: Y34*
SMART Domains Protein: ENSMUSP00000075150
Gene: ENSMUSG00000036751
AA Change: Y34*

DomainStartEndE-ValueType
Pfam:COX6B 19 83 1.9e-21 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000207851
Predicted Effect noncoding transcript
Transcript: ENSMUST00000208352
Predicted Effect probably benign
Transcript: ENSMUST00000208838
Coding Region Coverage
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: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ambp C T 4: 63,066,977 (GRCm39) V188I probably benign Het
Bbs9 G T 9: 22,582,221 (GRCm39) E638* probably null Het
Bmp6 A G 13: 38,682,904 (GRCm39) M465V probably damaging Het
Ccdc192 T A 18: 57,800,417 (GRCm39) C171* probably null Het
Cemip T C 7: 83,632,440 (GRCm39) E374G possibly damaging Het
Cnbd1 A T 4: 18,895,141 (GRCm39) Y200* probably null Het
Cyp2d26 A C 15: 82,675,619 (GRCm39) I303M probably benign Het
Diaph1 T A 18: 38,026,469 (GRCm39) probably null Het
Dmp1 T C 5: 104,359,731 (GRCm39) S136P probably damaging Het
Dpy19l1 C T 9: 24,396,365 (GRCm39) R117Q probably damaging Het
Eea1 A G 10: 95,832,877 (GRCm39) T241A probably damaging Het
Erap1 C A 13: 74,814,291 (GRCm39) T25K probably damaging Het
Fras1 A G 5: 96,906,007 (GRCm39) E3137G probably benign Het
Fryl C T 5: 73,179,844 (GRCm39) probably null Het
Gldc T G 19: 30,078,165 (GRCm39) D944A possibly damaging Het
Grm5 A G 7: 87,689,267 (GRCm39) Y546C probably damaging Het
Igkv1-122 G A 6: 67,993,728 (GRCm39) M1I probably null Het
Jag2 G A 12: 112,879,969 (GRCm39) P380S possibly damaging Het
Kcnc2 T C 10: 112,108,311 (GRCm39) probably null Het
Kmt2a T C 9: 44,736,781 (GRCm39) probably benign Het
Lrrc55 A G 2: 85,022,333 (GRCm39) V286A probably damaging Het
Mllt10 C A 2: 18,127,128 (GRCm39) H82N probably damaging Het
Myh11 C A 16: 14,039,639 (GRCm39) R837L probably damaging Het
Nsg1 C A 5: 38,313,035 (GRCm39) D55Y probably damaging Het
Nup107 C A 10: 117,617,247 (GRCm39) R221M probably damaging Het
Nup153 G T 13: 46,837,583 (GRCm39) A1213D possibly damaging Het
Ovgp1 G A 3: 105,885,665 (GRCm39) G174S probably damaging Het
Papss2 C T 19: 32,629,482 (GRCm39) A357V probably benign Het
Pclo A G 5: 14,763,881 (GRCm39) K4118R unknown Het
Pde2a T C 7: 101,156,918 (GRCm39) I628T possibly damaging Het
Pla2r1 A G 2: 60,325,708 (GRCm39) W521R probably damaging Het
Pld1 A T 3: 28,153,813 (GRCm39) Q744L probably damaging Het
Pnpo T A 11: 96,829,775 (GRCm39) E251V possibly damaging Het
Rdh10 C T 1: 16,178,246 (GRCm39) H173Y possibly damaging Het
Sgpp2 A T 1: 78,393,533 (GRCm39) I179F probably damaging Het
Slc11a1 C T 1: 74,423,899 (GRCm39) P409L probably damaging Het
Slc35b4 T A 6: 34,135,364 (GRCm39) N316I probably benign Het
Snrnp200 A G 2: 127,064,148 (GRCm39) I712V probably benign Het
Spr T C 6: 85,111,222 (GRCm39) D216G possibly damaging Het
Sri G A 5: 8,113,755 (GRCm39) probably null Het
Tas2r124 T C 6: 132,732,332 (GRCm39) S214P probably damaging Het
Tg T A 15: 66,549,936 (GRCm39) S233T probably damaging Het
Tgfbr3 A T 5: 107,269,279 (GRCm39) probably benign Het
Vmn2r45 A G 7: 8,486,337 (GRCm39) F317S probably benign Het
Vmn2r99 C A 17: 19,613,920 (GRCm39) probably benign Het
Zfp957 T C 14: 79,451,331 (GRCm39) E156G probably benign Het
Other mutations in Cox6b1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01299:Cox6b1 APN 7 30,316,553 (GRCm39) missense possibly damaging 0.88
R7108:Cox6b1 UTSW 7 30,322,929 (GRCm39) missense possibly damaging 0.88
Posted On 2014-01-21