Incidental Mutation 'IGL02746:Cox10'
ID 306066
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Cox10
Ensembl Gene ENSMUSG00000042148
Gene Name heme A:farnesyltransferase cytochrome c oxidase assembly factor 10
Synonyms 2410004F01Rik
Accession Numbers
Essential gene? Probably essential (E-score: 0.959) question?
Stock # IGL02746
Quality Score
Status
Chromosome 11
Chromosomal Location 63853453-63970294 bp(-) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) G to A at 63855357 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000040138 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000049091]
AlphaFold Q8CFY5
Predicted Effect probably benign
Transcript: ENSMUST00000049091
SMART Domains Protein: ENSMUSP00000040138
Gene: ENSMUSG00000042148

DomainStartEndE-ValueType
Pfam:UbiA 168 418 5e-58 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000146915
Coding Region Coverage
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: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A2m G A 6: 121,646,462 (GRCm39) probably benign Het
Adck5 A T 15: 76,473,354 (GRCm39) M68L probably benign Het
Aox3 T C 1: 58,222,701 (GRCm39) S1165P possibly damaging Het
Arhgap23 A G 11: 97,345,030 (GRCm39) probably benign Het
Brdt T C 5: 107,518,190 (GRCm39) L771P probably benign Het
Ccdc134 T A 15: 82,015,938 (GRCm39) probably benign Het
Cdc42bpa T A 1: 179,939,312 (GRCm39) D41E possibly damaging Het
Cdkn2aipnl A G 11: 51,861,047 (GRCm39) T106A probably damaging Het
Cubn C A 2: 13,449,851 (GRCm39) C891F probably damaging Het
Cyb5rl A G 4: 106,925,836 (GRCm39) E6G probably benign Het
Dhrs2 T C 14: 55,478,628 (GRCm39) S258P probably damaging Het
Dnah10 T C 5: 124,807,150 (GRCm39) L145P possibly damaging Het
Epc1 A G 18: 6,454,317 (GRCm39) I129T probably benign Het
Gkn3 A G 6: 87,364,339 (GRCm39) probably benign Het
Gls2 A G 10: 128,036,825 (GRCm39) D202G probably damaging Het
Gm45844 A G 7: 7,243,178 (GRCm39) F24S probably damaging Het
Golph3 C T 15: 12,349,501 (GRCm39) R174W probably damaging Het
Gpatch4 A C 3: 87,961,698 (GRCm39) E119A possibly damaging Het
Hemgn A G 4: 46,400,740 (GRCm39) L40P probably damaging Het
Ifi27l2b A T 12: 103,417,493 (GRCm39) D231E unknown Het
Klf12 T C 14: 100,137,656 (GRCm39) I297V probably benign Het
Lzts3 T C 2: 130,478,261 (GRCm39) N165S probably damaging Het
Nlrp4e G A 7: 23,021,264 (GRCm39) V584I probably benign Het
Npas4 T C 19: 5,036,695 (GRCm39) T490A probably damaging Het
Pikfyve C A 1: 65,273,431 (GRCm39) H615Q probably damaging Het
Plce1 T A 19: 38,686,916 (GRCm39) L608Q probably damaging Het
Pou2f3 T G 9: 43,058,143 (GRCm39) Q67H probably benign Het
Rev3l T C 10: 39,700,585 (GRCm39) L1694P probably damaging Het
Rpl4 A G 9: 64,082,932 (GRCm39) T117A probably benign Het
Scn5a T C 9: 119,379,703 (GRCm39) N194D probably damaging Het
Sec16b T A 1: 157,373,859 (GRCm39) probably benign Het
Slc12a5 A T 2: 164,816,836 (GRCm39) M97L probably benign Het
Stard13 A G 5: 150,970,322 (GRCm39) probably benign Het
Stau1 A C 2: 166,796,818 (GRCm39) probably null Het
Thg1l A T 11: 45,839,054 (GRCm39) C219* probably null Het
Togaram1 G T 12: 65,013,270 (GRCm39) E174* probably null Het
Vmn1r237 T C 17: 21,534,480 (GRCm39) S68P possibly damaging Het
Vmn2r3 A T 3: 64,167,239 (GRCm39) S631T possibly damaging Het
Other mutations in Cox10
AlleleSourceChrCoordTypePredicted EffectPPH Score
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
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
Posted On 2015-04-16