Incidental Mutation 'R6457:Cox10'
ID 516540
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 044592-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.959) question?
Stock # R6457 (G1)
Quality Score 225.009
Status Validated
Chromosome 11
Chromosomal Location 63853453-63970294 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 63855198 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Proline at position 361 (L361P)
Ref Sequence ENSEMBL: ENSMUSP00000040138 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000049091]
AlphaFold Q8CFY5
Predicted Effect probably damaging
Transcript: ENSMUST00000049091
AA Change: L361P

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000040138
Gene: ENSMUSG00000042148
AA Change: L361P

DomainStartEndE-ValueType
Pfam:UbiA 168 418 5e-58 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000146915
Meta Mutation Damage Score 0.6098 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.1%
  • 20x: 94.3%
Validation Efficiency 97% (63/65)
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: 67 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1110002E22Rik T A 3: 137,772,383 (GRCm39) V524E probably damaging Het
Acer2 T A 4: 86,818,808 (GRCm39) M152K probably damaging Het
Actn3 T C 19: 4,921,876 (GRCm39) D130G probably damaging Het
Ank1 T A 8: 23,577,983 (GRCm39) F211Y probably damaging Het
Ankfn1 C T 11: 89,282,670 (GRCm39) A326T probably benign Het
Ankrd11 G A 8: 123,635,503 (GRCm39) R44C probably damaging Het
Ankrd46 A G 15: 36,484,217 (GRCm39) probably benign Het
Aurkb G A 11: 68,939,172 (GRCm39) E132K possibly damaging Het
Bsdc1 C T 4: 129,359,069 (GRCm39) T9I possibly damaging Het
Card14 C T 11: 119,230,428 (GRCm39) R767* probably null Het
Ccdc82 T A 9: 13,272,745 (GRCm39) F411L possibly damaging Het
Col12a1 C T 9: 79,552,973 (GRCm39) G2106D probably damaging Het
Col27a1 T A 4: 63,237,701 (GRCm39) probably benign Het
Cox18 A G 5: 90,371,548 (GRCm39) I84T probably benign Het
Dhrs3 T C 4: 144,646,522 (GRCm39) S125P probably damaging Het
Fbxl15 A G 19: 46,317,765 (GRCm39) H149R probably benign Het
Flg2 T A 3: 93,127,789 (GRCm39) S2234T unknown Het
Gtf2e1 A C 16: 37,356,698 (GRCm39) probably null Het
H2-Q7 A T 17: 35,658,655 (GRCm39) S98C probably damaging Het
Hcn2 G T 10: 79,569,607 (GRCm39) E536* probably null Het
Kat6b A T 14: 21,720,748 (GRCm39) H1700L probably damaging Het
Klhl3 C T 13: 58,248,192 (GRCm39) V35I probably benign Het
Krt34 A T 11: 99,930,916 (GRCm39) L162Q probably damaging Het
Ly9 A G 1: 171,416,663 (GRCm39) S644P probably damaging Het
Magi1 A T 6: 93,676,620 (GRCm39) V685E probably damaging Het
Malrd1 A G 2: 15,531,408 (GRCm39) probably benign Het
Malrd1 A T 2: 15,672,740 (GRCm39) H599L probably benign Het
Matn2 T A 15: 34,426,380 (GRCm39) C631S probably damaging Het
Megf8 A T 7: 25,049,120 (GRCm39) D1739V probably damaging Het
Mlf1 G A 3: 67,300,277 (GRCm39) R98Q probably benign Het
Mprip T A 11: 59,649,815 (GRCm39) I1173K possibly damaging Het
Mrc1 A G 2: 14,275,016 (GRCm39) D439G probably damaging Het
Mroh5 A T 15: 73,662,691 (GRCm39) W208R probably damaging Het
Ms4a5 T G 19: 11,256,646 (GRCm39) I84L probably benign Het
Myt1 G A 2: 181,405,218 (GRCm39) probably null Het
Nbea T A 3: 55,907,990 (GRCm39) H1374L probably damaging Het
Nbeal1 T A 1: 60,292,633 (GRCm39) I1095K probably benign Het
Nolc1 A G 19: 46,071,509 (GRCm39) probably benign Het
Nr5a2 A G 1: 136,887,976 (GRCm39) L18P probably benign Het
Nup188 G T 2: 30,212,199 (GRCm39) C562F probably damaging Het
Obscn A G 11: 58,971,597 (GRCm39) V2415A probably damaging Het
Pacsin2 A T 15: 83,263,879 (GRCm39) probably null Het
Pias3 A G 3: 96,606,839 (GRCm39) H34R possibly damaging Het
Ppfia2 T C 10: 106,729,361 (GRCm39) V903A probably damaging Het
Pramel1 T A 4: 143,123,275 (GRCm39) L84Q probably damaging Het
Pramel6 G A 2: 87,339,782 (GRCm39) C182Y probably damaging Het
Prdm4 A G 10: 85,743,896 (GRCm39) Y120H probably damaging Het
Prss28 A G 17: 25,530,331 (GRCm39) M212V probably benign Het
Rbp3 G T 14: 33,677,224 (GRCm39) G391* probably null Het
Rc3h2 C T 2: 37,301,151 (GRCm39) probably null Het
Ret A G 6: 118,150,582 (GRCm39) F645L probably benign Het
Saxo5 T C 8: 3,529,268 (GRCm39) L251P probably damaging Het
Sgsm2 A G 11: 74,755,995 (GRCm39) S402P possibly damaging Het
Shc3 T A 13: 51,636,915 (GRCm39) probably null Het
Slc25a16 A G 10: 62,776,938 (GRCm39) N246S probably benign Het
Snrpd1 T A 18: 10,623,694 (GRCm39) H26Q probably benign Het
Thsd1 A G 8: 22,733,363 (GRCm39) T137A probably damaging Het
Tnik A T 3: 28,593,597 (GRCm39) H151L probably damaging Het
Tns1 T A 1: 73,957,209 (GRCm39) K1725N probably damaging Het
Tomm40l T A 1: 171,048,161 (GRCm39) T147S probably damaging Het
Tomm6 G T 17: 47,998,932 (GRCm39) probably benign Het
Trp53 G A 11: 69,480,440 (GRCm39) C272Y probably damaging Het
Trpm7 A T 2: 126,649,214 (GRCm39) V1492E probably benign Het
Tsen2 G A 6: 115,536,592 (GRCm39) R116H probably benign Het
Uvrag A G 7: 98,555,726 (GRCm39) F456S probably damaging Het
Vmn1r86 A T 7: 12,836,279 (GRCm39) M199K possibly damaging Het
Vmn2r4 C T 3: 64,317,378 (GRCm39) C120Y 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
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
R9684:Cox10 UTSW 11 63,855,207 (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'- CTGAGAGAGCCTTGCTTTGG -3'

Sequencing Primer
(F):5'- TGCTTACAGGTGAGCATGAGC -3'
(R):5'- ATGGCCGCTGACACCTAACTG -3'
Posted On 2018-05-21