|Institutional Source||Beutler Lab|
|Gene Name||cytochrome c oxidase assembly protein 15|
|Is this an essential gene?||Essential (E-score: 1.000)|
|Stock #||R6720 (G1)|
|Chromosomal Location||43733254-43753000 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||A to G at 43736789 bp|
|Amino Acid Change||Serine to Proline at position 392 (S392P)|
|Ref Sequence||ENSEMBL: ENSMUSP00000041820 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000045562] [ENSMUST00000081079]|
|Predicted Effect||probably damaging
AA Change: S392P
PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
AA Change: S392P
|Predicted Effect||probably benign
|Predicted Effect||noncoding transcript
|Meta Mutation Damage Score||0.7736|
|Coding Region Coverage||
|Validation Efficiency||98% (50/51)|
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 a protein which is not a structural subunit, but may be essential for the biogenesis of COX formation and may function in the hydroxylation of heme O, according to the yeast mutant studies. This protein is predicted to contain 5 transmembrane domains localized in the mitochondrial inner membrane. Alternative splicing of this gene generates two transcript variants diverging in the 3' region. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit embryonic lethality. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Cox15||
(F):5'- GAATGACTTGACCAATTTGGAAACC -3'
(R):5'- ACTGACTGCGTCCTGGATTTC -3'
(F):5'- CCAATTTGGAAACCATGTGGC -3'
(R):5'- ATTTTATGGATGCTTGCTTCTGAC -3'