|Institutional Source||Beutler Lab|
|Gene Name||cytochrome c oxidase, subunit VIb polypeptide 1|
|Is this an essential gene?||Not available|
|Stock #||R7108 (G1)|
|Chromosomal Location||30616861-30626151 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||A to G at 30623504 bp|
|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]|
|Predicted Effect||possibly damaging
AA Change: C40R
PolyPhen 2 Score 0.881 (Sensitivity: 0.82; Specificity: 0.94)
AA Change: C40R
|Predicted Effect||probably benign
|Coding Region Coverage||
|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||
|Other mutations in Cox6b1||
(F):5'- ACATTCCATGGCTGGTCCTC -3'
(R):5'- GCTGTCATTCCTAGCTCCAGAATG -3'
(F):5'- GCTTGACCCTTGGAGGTGAAC -3'
(R):5'- GTTCTATATAACTGCCCAGGTCAGG -3'