Incidental Mutation 'R8545:Cox15'
ID 659610
Institutional Source Beutler Lab
Gene Symbol Cox15
Ensembl Gene ENSMUSG00000040018
Gene Name cytochrome c oxidase assembly protein 15
Synonyms 2900026G05Rik
MMRRC Submission 068510-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R8545 (G1)
Quality Score 225.009
Status Not validated
Chromosome 19
Chromosomal Location 43721693-43741439 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 43728421 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Glutamic Acid at position 284 (V284E)
Ref Sequence ENSEMBL: ENSMUSP00000041820 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000045562]
AlphaFold Q8BJ03
Predicted Effect probably damaging
Transcript: ENSMUST00000045562
AA Change: V284E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000041820
Gene: ENSMUSG00000040018
AA Change: V284E

DomainStartEndE-ValueType
Pfam:COX15-CtaA 73 402 2.3e-112 PFAM
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.3%
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 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
Total: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acaca A G 11: 84,236,794 (GRCm39) Y1779C probably damaging Het
Apc A G 18: 34,450,084 (GRCm39) N2293D possibly damaging Het
Arhgap30 T C 1: 171,234,998 (GRCm39) L488P probably damaging Het
Arhgap31 T A 16: 38,423,408 (GRCm39) Q886L probably damaging Het
Arhgef10 T G 8: 14,978,868 (GRCm39) V45G probably benign Het
Arhgef10 A G 8: 15,025,931 (GRCm39) T812A possibly damaging Het
Bbs2 T C 8: 94,813,352 (GRCm39) S246G probably benign Het
Cby3 T C 11: 50,250,243 (GRCm39) S150P probably benign Het
Cdc40 A G 10: 40,723,939 (GRCm39) V283A probably benign Het
Cyp4a12b A T 4: 115,290,227 (GRCm39) H260L probably benign Het
Dph6 G A 2: 114,478,248 (GRCm39) A31V probably damaging Het
Dsc2 G A 18: 20,167,722 (GRCm39) Q123* probably null Het
Eftud2 A G 11: 102,731,097 (GRCm39) F810S probably damaging Het
Erich3 A T 3: 154,467,996 (GRCm39) probably benign Het
Gm49368 T C 7: 127,679,433 (GRCm39) Y192H probably damaging Het
Herc1 T A 9: 66,279,257 (GRCm39) L55* probably null Het
Hgsnat T C 8: 26,445,707 (GRCm39) T396A probably benign Het
Il17rd T G 14: 26,813,886 (GRCm39) F55C probably damaging Het
Mad1l1 A C 5: 140,286,249 (GRCm39) M250R probably benign Het
Muc15 A T 2: 110,561,581 (GRCm39) K6* probably null Het
Muc2 A G 7: 141,306,130 (GRCm39) N273S unknown Het
Myh1 T A 11: 67,093,027 (GRCm39) Y78N probably benign Het
Pcdh20 T A 14: 88,706,601 (GRCm39) H233L probably damaging Het
Pcnx4 G A 12: 72,602,856 (GRCm39) A373T probably benign Het
Phf3 A T 1: 30,863,391 (GRCm39) M778K possibly damaging Het
Pigg A T 5: 108,489,726 (GRCm39) D644V probably damaging Het
Rnf148 A T 6: 23,654,570 (GRCm39) I142N probably damaging Het
Ryr1 T C 7: 28,704,239 (GRCm39) probably benign Het
Sorbs1 G C 19: 40,365,244 (GRCm39) R180G probably benign Het
Tapbp A G 17: 34,139,291 (GRCm39) M87V possibly damaging Het
Tbccd1 T C 16: 22,652,779 (GRCm39) Y114C probably benign Het
Tet1 A T 10: 62,648,718 (GRCm39) W1905R probably damaging Het
Tmem109 G A 19: 10,851,734 (GRCm39) R37* probably null Het
Wdfy4 T C 14: 32,800,258 (GRCm39) Y1802C probably benign Het
Zbtb17 CCCCCACCTCCACAGACCCCA CCCCCACCTCCACAGACCCCACCTCCACAGACCCCA 4: 141,194,139 (GRCm39) probably benign Het
Zcchc4 G A 5: 52,976,741 (GRCm39) probably benign Het
Zfp646 T C 7: 127,484,662 (GRCm39) S1772P probably benign Het
Zfp820 A G 17: 22,038,438 (GRCm39) C297R probably damaging Het
Other mutations in Cox15
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01472:Cox15 APN 19 43,732,104 (GRCm39) nonsense probably null
R0122:Cox15 UTSW 19 43,737,229 (GRCm39) missense possibly damaging 0.56
R1452:Cox15 UTSW 19 43,735,344 (GRCm39) missense probably damaging 1.00
R1931:Cox15 UTSW 19 43,735,224 (GRCm39) missense probably benign 0.01
R1932:Cox15 UTSW 19 43,735,224 (GRCm39) missense probably benign 0.01
R6268:Cox15 UTSW 19 43,728,365 (GRCm39) missense possibly damaging 0.88
R6720:Cox15 UTSW 19 43,725,228 (GRCm39) missense probably damaging 1.00
R7141:Cox15 UTSW 19 43,725,186 (GRCm39) missense probably benign 0.05
R7743:Cox15 UTSW 19 43,728,380 (GRCm39) missense possibly damaging 0.94
R8698:Cox15 UTSW 19 43,739,948 (GRCm39) missense probably benign
R8725:Cox15 UTSW 19 43,735,181 (GRCm39) nonsense probably null
R8727:Cox15 UTSW 19 43,735,181 (GRCm39) nonsense probably null
R8941:Cox15 UTSW 19 43,732,172 (GRCm39) missense probably benign 0.01
R9650:Cox15 UTSW 19 43,735,318 (GRCm39) missense probably benign 0.11
Predicted Primers PCR Primer
(F):5'- GCACTATTTGCCTGAATAAGCAG -3'
(R):5'- GTCCCCACTGAGAACATTGTG -3'

Sequencing Primer
(F):5'- CACTCCCGATACTTGGTGTGG -3'
(R):5'- CCCACTGAGAACATTGTGAGTGC -3'
Posted On 2021-01-18