|Institutional Source||Beutler Lab|
|Gene Name||cytochrome c oxidase assembly protein 10|
|Is this an essential gene?||Probably essential (E-score: 0.959)|
|Stock #||PIT4504001 (G1)|
|Chromosomal Location||63962627-64079468 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||C to T at 63964216 bp (GRCm38)|
|Amino Acid Change||Cysteine to Tyrosine at position 413 (C413Y)|
|Ref Sequence||ENSEMBL: ENSMUSP00000040138 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000049091]|
AA Change: C413Y
PolyPhen 2 Score 0.664 (Sensitivity: 0.86; Specificity: 0.91)
AA Change: C413Y
|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 component of the mitochondrial respiratory chain, catalyzes the electron transfer from reduced cytochrome c to oxygen. This component 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 function in the regulation and assembly of the complex. This nuclear gene encodes heme A:farnesyltransferase, which is not a structural subunit but required for the expression of functional COX and functions in the maturation of the heme A prosthetic group of COX. This protein is predicted to contain 7-9 transmembrane domains localized in the mitochondrial inner membrane. A gene mutation, which results in the substitution of a lysine for an asparagine (N204K), is identified to be responsible for cytochrome c oxidase deficiency. In addition, this gene is disrupted in patients with CMT1A (Charcot-Marie-Tooth type 1A) duplication and with HNPP (hereditary neuropathy with liability to pressure palsies) deletion. [provided by RefSeq, Jul 2008]|
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Cox10||
(F):5'- AAAATACGCTTCCTGCTGGC -3'
(R):5'- CTGTATGATGTCCGTCACCC -3'
(F):5'- CCCAGGGCAGTGCTGTC -3'
(R):5'- GTATGATGTCCGTCACCCATCCAG -3'