Incidental Mutation 'R9684:Cox10'
ID 728753
Institutional Source Beutler Lab
Gene Symbol Cox10
Ensembl Gene ENSMUSG00000042148
Gene Name heme A:farnesyltransferase cytochrome c oxidase assembly factor 10
Synonyms 2410004F01Rik
MMRRC Submission
Accession Numbers
Essential gene? Probably essential (E-score: 0.959) question?
Stock # R9684 (G1)
Quality Score 225.009
Status Not validated
Chromosome 11
Chromosomal Location 63853453-63970294 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 63855207 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Histidine at position 358 (R358H)
Ref Sequence ENSEMBL: ENSMUSP00000040138 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000049091]
AlphaFold Q8CFY5
Predicted Effect probably damaging
Transcript: ENSMUST00000049091
AA Change: R358H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000040138
Gene: ENSMUSG00000042148
AA Change: R358H

DomainStartEndE-ValueType
Pfam:UbiA 168 418 5e-58 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.0%
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 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
Total: 53 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca13 A T 11: 9,283,307 (GRCm39) D3243V probably damaging Het
Acot3 T C 12: 84,105,650 (GRCm39) L281P probably benign Het
Asb4 A C 6: 5,398,296 (GRCm39) H87P probably damaging Het
Ccnt1 A T 15: 98,446,566 (GRCm39) Y175N probably damaging Het
Cdh11 A G 8: 103,391,327 (GRCm39) V303A probably benign Het
Cdk19 T A 10: 40,351,594 (GRCm39) M297K probably damaging Het
Ces2c A C 8: 105,574,699 (GRCm39) D52A probably benign Het
Cryzl1 A G 16: 91,487,634 (GRCm39) I302T probably benign Het
Def6 T C 17: 28,436,044 (GRCm39) Y68H probably damaging Het
Dolpp1 A G 2: 30,285,748 (GRCm39) I49V possibly damaging Het
Ehmt1 T C 2: 24,753,329 (GRCm39) D357G possibly damaging Het
Ermp1 G T 19: 29,594,106 (GRCm39) T688N probably benign Het
F830016B08Rik T C 18: 60,433,043 (GRCm39) I42T probably damaging Het
Gbp7 A G 3: 142,240,327 (GRCm39) E15G possibly damaging Het
Ghdc A G 11: 100,661,091 (GRCm39) S25P probably benign Het
Gm45861 A G 8: 28,014,601 (GRCm39) N613S unknown Het
Grip1 G A 10: 119,874,569 (GRCm39) E778K possibly damaging Het
Gzmf T A 14: 56,444,444 (GRCm39) D43V probably benign Het
Hdac10 C A 15: 89,011,402 (GRCm39) D172Y probably damaging Het
Krt32 T A 11: 99,977,308 (GRCm39) R197S probably damaging Het
Lama5 T C 2: 179,849,038 (GRCm39) D215G probably damaging Het
M1ap C A 6: 82,945,094 (GRCm39) H129Q probably benign Het
Mfsd3 A G 15: 76,587,183 (GRCm39) D312G probably benign Het
Muc5ac A G 7: 141,364,798 (GRCm39) D2628G probably benign Het
Myoz3 T C 18: 60,712,026 (GRCm39) D184G possibly damaging Het
Ncor2 A G 5: 125,102,139 (GRCm39) L1217P Het
Nepn T C 10: 52,276,801 (GRCm39) V179A probably benign Het
Niban1 T A 1: 151,593,538 (GRCm39) I741N possibly damaging Het
Npr2 T C 4: 43,632,491 (GRCm39) Y103H probably damaging Het
Oosp3 A T 19: 11,682,806 (GRCm39) K158M probably benign Het
Or51i1 C A 7: 103,671,079 (GRCm39) G149C probably damaging Het
Or56a3 A G 7: 104,735,589 (GRCm39) Y222C Het
Orc3 G A 4: 34,607,135 (GRCm39) T65I probably benign Het
Pcdhga7 T C 18: 37,848,667 (GRCm39) S225P probably damaging Het
Pcsk9 G T 4: 106,307,386 (GRCm39) L286I probably benign Het
Pkd1l3 GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA 8: 110,350,827 (GRCm39) probably benign Het
Pnma1 T C 12: 84,193,941 (GRCm39) Y254C probably benign Het
Ppm1k T A 6: 57,487,762 (GRCm39) N354Y probably damaging Het
Ralgapa1 T C 12: 55,659,485 (GRCm39) T2012A possibly damaging Het
Selp T A 1: 163,953,858 (GRCm39) W53R probably damaging Het
Slc10a7 T A 8: 79,456,304 (GRCm39) V302E possibly damaging Het
Slc25a32 T C 15: 38,969,339 (GRCm39) I65V probably benign Het
Spesp1 A G 9: 62,180,545 (GRCm39) F121S probably damaging Het
Syncrip T C 9: 88,361,671 (GRCm39) T110A probably benign Het
Tc2n T C 12: 101,660,818 (GRCm39) D138G probably benign Het
Tnfrsf9 C T 4: 151,018,865 (GRCm39) P179S probably benign Het
Ube2r2 A G 4: 41,183,329 (GRCm39) T117A probably benign Het
Ush2a A C 1: 188,132,078 (GRCm39) K767Q possibly damaging Het
Vdr A G 15: 97,767,285 (GRCm39) V161A probably benign Het
Vmn1r33 T C 6: 66,589,075 (GRCm39) T160A possibly damaging Het
Vmn1r63 A G 7: 5,805,913 (GRCm39) S240P probably benign Het
Vmp1 T C 11: 86,476,156 (GRCm39) N400S probably benign Het
Zfp599 G A 9: 22,160,824 (GRCm39) T447I probably damaging Het
Other mutations in Cox10
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02746:Cox10 APN 11 63,855,357 (GRCm39) splice site probably benign
PIT4504001:Cox10 UTSW 11 63,855,042 (GRCm39) missense possibly damaging 0.66
R0548:Cox10 UTSW 11 63,867,178 (GRCm39) missense probably damaging 1.00
R0811:Cox10 UTSW 11 63,962,539 (GRCm39) missense probably benign
R0812:Cox10 UTSW 11 63,962,539 (GRCm39) missense probably benign
R2175:Cox10 UTSW 11 63,962,475 (GRCm39) missense probably benign 0.01
R4290:Cox10 UTSW 11 63,855,081 (GRCm39) missense probably benign 0.00
R4681:Cox10 UTSW 11 63,867,277 (GRCm39) missense possibly damaging 0.94
R4770:Cox10 UTSW 11 63,854,989 (GRCm39) missense probably benign 0.00
R5873:Cox10 UTSW 11 63,962,512 (GRCm39) missense probably benign 0.00
R6457:Cox10 UTSW 11 63,855,198 (GRCm39) missense probably damaging 0.99
R7955:Cox10 UTSW 11 63,884,750 (GRCm39) missense probably benign 0.25
R8731:Cox10 UTSW 11 63,855,045 (GRCm39) missense probably damaging 1.00
R8821:Cox10 UTSW 11 63,855,306 (GRCm39) missense probably damaging 1.00
R8831:Cox10 UTSW 11 63,855,306 (GRCm39) missense probably damaging 1.00
R8883:Cox10 UTSW 11 63,884,775 (GRCm39) missense probably damaging 1.00
X0064:Cox10 UTSW 11 63,884,783 (GRCm39) critical splice acceptor site probably null
Z1177:Cox10 UTSW 11 63,867,296 (GRCm39) missense possibly damaging 0.88
Predicted Primers PCR Primer
(F):5'- AGGTGTCTGCTCTCATGTTC -3'
(R):5'- GCTGACACCTAACTGTTCCC -3'

Sequencing Primer
(F):5'- TGCTTACAGGTGAGCATGAGC -3'
(R):5'- GCTGACACCTAACTGTTCCCTTTTC -3'
Posted On 2022-10-06