Incidental Mutation 'R7141:Cox15'
ID 553374
Institutional Source Beutler Lab
Gene Symbol Cox15
Ensembl Gene ENSMUSG00000040018
Gene Name cytochrome c oxidase assembly protein 15
Synonyms 2900026G05Rik
MMRRC Submission 045221-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R7141 (G1)
Quality Score 225.009
Status Validated
Chromosome 19
Chromosomal Location 43721693-43741439 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 43725186 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Aspartic acid at position 406 (N406D)
Ref Sequence ENSEMBL: ENSMUSP00000041820 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000045562] [ENSMUST00000081079]
AlphaFold Q8BJ03
Predicted Effect probably benign
Transcript: ENSMUST00000045562
AA Change: N406D

PolyPhen 2 Score 0.048 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000041820
Gene: ENSMUSG00000040018
AA Change: N406D

DomainStartEndE-ValueType
Pfam:COX15-CtaA 73 402 2.3e-112 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000081079
SMART Domains Protein: ENSMUSP00000079864
Gene: ENSMUSG00000025192

DomainStartEndE-ValueType
transmembrane domain 30 52 N/A INTRINSIC
Pfam:GDA1_CD39 75 534 3.6e-106 PFAM
transmembrane domain 550 572 N/A INTRINSIC
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.9%
Validation Efficiency 100% (56/56)
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: 58 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aamp A C 1: 74,323,270 (GRCm39) probably null Het
Abhd10 C T 16: 45,563,169 (GRCm39) R29Q probably benign Het
Adgrv1 A G 13: 81,640,620 (GRCm39) Y3369H probably benign Het
Agl A G 3: 116,546,935 (GRCm39) I1305T probably benign Het
Apba3 A G 10: 81,108,889 (GRCm39) I551V probably damaging Het
Appbp2 A T 11: 85,082,577 (GRCm39) Y551* probably null Het
Btbd17 T C 11: 114,682,641 (GRCm39) N357S possibly damaging Het
Casp2 T C 6: 42,257,329 (GRCm39) F426S possibly damaging Het
Cdh5 A G 8: 104,839,633 (GRCm39) N35D probably benign Het
Cep350 G T 1: 155,790,494 (GRCm39) Q1354K probably damaging Het
Cep44 A G 8: 56,992,886 (GRCm39) C243R probably damaging Het
Chst4 A T 8: 110,757,471 (GRCm39) S131T probably damaging Het
Cttnbp2 C T 6: 18,380,467 (GRCm39) R1467H probably benign Het
Dock8 A G 19: 25,158,984 (GRCm39) D1714G probably null Het
Erbb2 G T 11: 98,318,135 (GRCm39) R457L probably damaging Het
Esyt3 T C 9: 99,203,493 (GRCm39) N463S probably benign Het
Fam171a1 C T 2: 3,226,189 (GRCm39) Q441* probably null Het
Fam186b T A 15: 99,181,773 (GRCm39) M142L probably benign Het
Git2 G T 5: 114,907,759 (GRCm39) C35* probably null Het
Gm21103 T G 14: 17,482,795 (GRCm39) Q202P probably damaging Het
Gm5622 G T 14: 51,893,339 (GRCm39) E89* probably null Het
Hmcn2 C A 2: 31,250,908 (GRCm39) T790K probably benign Het
Hspg2 T A 4: 137,279,427 (GRCm39) L3114H probably damaging Het
Igkv3-10 A T 6: 70,549,965 (GRCm39) Q37L possibly damaging Het
Kcp G T 6: 29,487,511 (GRCm39) Y1106* probably null Het
Khsrp T C 17: 57,332,602 (GRCm39) D226G possibly damaging Het
Klre1 T A 6: 129,560,129 (GRCm39) W134R probably damaging Het
Lrrc66 A G 5: 73,787,320 (GRCm39) I10T probably benign Het
Map4 T C 9: 109,807,938 (GRCm39) M1T probably null Het
Met T A 6: 17,527,154 (GRCm39) I535K probably benign Het
Mmut T C 17: 41,263,730 (GRCm39) V500A possibly damaging Het
Mrgprb1 A G 7: 48,097,435 (GRCm39) V159A possibly damaging Het
Mrpl41 A G 2: 24,864,468 (GRCm39) L68P probably damaging Het
Mtmr4 T C 11: 87,491,439 (GRCm39) W135R probably damaging Het
Myh10 A G 11: 68,692,965 (GRCm39) D1420G probably benign Het
Naglu A C 11: 100,963,056 (GRCm39) D229A probably benign Het
Naip5 T A 13: 100,356,338 (GRCm39) E1092D probably benign Het
Ncln G T 10: 81,323,683 (GRCm39) Y517* probably null Het
Nr1h4 G A 10: 89,334,091 (GRCm39) R100* probably null Het
Or5k1 G A 16: 58,617,771 (GRCm39) T146M probably benign Het
P2rx5 A T 11: 73,051,474 (GRCm39) T18S probably damaging Het
Pclo T C 5: 14,729,271 (GRCm39) S2710P unknown Het
Pdhx A T 2: 102,903,659 (GRCm39) F46I probably benign Het
Piezo2 A T 18: 63,278,181 (GRCm39) L241* probably null Het
Pitpnm1 G A 19: 4,152,787 (GRCm39) V65M probably damaging Het
Rgs3 A G 4: 62,608,724 (GRCm39) D330G probably damaging Het
Scaf8 T C 17: 3,209,457 (GRCm39) V60A unknown Het
Sema4c A G 1: 36,592,101 (GRCm39) Y249H probably damaging Het
Spp2 T C 1: 88,335,050 (GRCm39) Y27H probably damaging Het
Sugct T A 13: 17,819,372 (GRCm39) I158F possibly damaging Het
Sympk A T 7: 18,788,017 (GRCm39) I1178F probably benign Het
Tmppe T C 9: 114,234,036 (GRCm39) Y112H probably benign Het
Trp53bp2 A G 1: 182,276,073 (GRCm39) T187A Het
Tspoap1 A G 11: 87,665,523 (GRCm39) S754G probably damaging Het
Vmn1r214 C T 13: 23,218,839 (GRCm39) A111V probably benign Het
Vmn2r70 G C 7: 85,208,044 (GRCm39) S811C probably benign Het
Zfp638 T C 6: 83,844,181 (GRCm39) S15P unknown Het
Zfp763 A G 17: 33,237,769 (GRCm39) S459P 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
R7743:Cox15 UTSW 19 43,728,380 (GRCm39) missense possibly damaging 0.94
R8545:Cox15 UTSW 19 43,728,421 (GRCm39) missense probably damaging 1.00
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'- TAATGTTCGTGGTCCAGTGCC -3'
(R):5'- TTGCTTCTGACATGGGGTAC -3'

Sequencing Primer
(F):5'- GTGCCCATCTCAGAACAGTTC -3'
(R):5'- GTACATGCATTTGTAATGTCTGAGAG -3'
Posted On 2019-05-15