Incidental Mutation 'IGL01567:Cox18'
ID 91010
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Cox18
Ensembl Gene ENSMUSG00000035505
Gene Name cytochrome c oxidase assembly protein 18
Synonyms
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.376) question?
Stock # IGL01567
Quality Score
Status
Chromosome 5
Chromosomal Location 90362583-90371860 bp(-) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) G to A at 90365447 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamine to Stop codon at position 251 (Q251*)
Ref Sequence ENSEMBL: ENSMUSP00000113353 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000048363] [ENSMUST00000118816] [ENSMUST00000148480]
AlphaFold Q8VC74
Predicted Effect probably null
Transcript: ENSMUST00000048363
AA Change: Q250*
SMART Domains Protein: ENSMUSP00000044144
Gene: ENSMUSG00000035505
AA Change: Q250*

DomainStartEndE-ValueType
low complexity region 19 30 N/A INTRINSIC
low complexity region 32 51 N/A INTRINSIC
Pfam:60KD_IMP 78 298 1.3e-38 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000118816
AA Change: Q251*
SMART Domains Protein: ENSMUSP00000113353
Gene: ENSMUSG00000035505
AA Change: Q251*

DomainStartEndE-ValueType
low complexity region 19 30 N/A INTRINSIC
low complexity region 32 51 N/A INTRINSIC
Pfam:60KD_IMP 79 296 5.1e-21 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000131068
Predicted Effect noncoding transcript
Transcript: ENSMUST00000133905
Predicted Effect noncoding transcript
Transcript: ENSMUST00000144898
Predicted Effect probably benign
Transcript: ENSMUST00000148480
SMART Domains Protein: ENSMUSP00000116430
Gene: ENSMUSG00000035505

DomainStartEndE-ValueType
low complexity region 19 30 N/A INTRINSIC
low complexity region 32 51 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000200475
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a cytochrome c oxidase assembly protein. The encoded protein is essential for integral membrane protein insertion into the mitochondrial inner membrane. It is also required for cytochrome c oxidase assembly and activity. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2014]
Allele List at MGI
Other mutations in this stock
Total: 30 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Agbl1 A G 7: 76,071,628 (GRCm39) S317G probably benign Het
Akna T C 4: 63,300,087 (GRCm39) T652A probably benign Het
Anxa9 G A 3: 95,209,743 (GRCm39) probably benign Het
Bpifb4 T A 2: 153,789,198 (GRCm39) probably benign Het
Bptf A G 11: 106,949,600 (GRCm39) S2125P probably damaging Het
Capns2 C A 8: 93,628,634 (GRCm39) H174Q probably benign Het
Cd200 A C 16: 45,215,054 (GRCm39) L199R probably damaging Het
Clasp2 T C 9: 113,709,164 (GRCm39) V651A probably damaging Het
Depdc1a T C 3: 159,232,183 (GRCm39) S645P probably damaging Het
Dio3 T A 12: 110,245,861 (GRCm39) C66S possibly damaging Het
Dock9 A T 14: 121,890,496 (GRCm39) L258Q probably damaging Het
Ghrhr A G 6: 55,361,108 (GRCm39) D274G probably damaging Het
Gm5129 A G 5: 29,940,862 (GRCm39) probably benign Het
Grb7 A G 11: 98,345,776 (GRCm39) N518S probably damaging Het
Kdm5b G A 1: 134,530,278 (GRCm39) A430T probably damaging Het
Map10 C A 8: 126,398,232 (GRCm39) Q542K probably benign Het
Metap1 T C 3: 138,168,150 (GRCm39) T325A probably damaging Het
Ncan A T 8: 70,560,984 (GRCm39) M661K probably benign Het
Or2f1b T C 6: 42,739,661 (GRCm39) I225T probably benign Het
Or51h5 A G 7: 102,577,623 (GRCm39) I263V probably benign Het
Otog T C 7: 45,926,039 (GRCm39) probably benign Het
Pip4k2b T C 11: 97,620,387 (GRCm39) D116G probably damaging Het
Rps15 T A 10: 80,129,643 (GRCm39) L86Q probably benign Het
Sfxn4 G T 19: 60,842,336 (GRCm39) T122K probably damaging Het
Slc4a3 T C 1: 75,527,526 (GRCm39) V165A probably damaging Het
Spmip7 A G 11: 11,465,015 (GRCm39) H122R possibly damaging Het
Synm A G 7: 67,384,980 (GRCm39) V452A probably damaging Het
Tdpoz1 T C 3: 93,578,013 (GRCm39) H257R possibly damaging Het
Tmem26 A G 10: 68,587,061 (GRCm39) T170A probably damaging Het
Wdfy4 T G 14: 32,873,618 (GRCm39) E230D probably benign Het
Other mutations in Cox18
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02260:Cox18 APN 5 90,365,384 (GRCm39) missense possibly damaging 0.94
PIT4585001:Cox18 UTSW 5 90,365,434 (GRCm39) missense possibly damaging 0.69
R0399:Cox18 UTSW 5 90,362,887 (GRCm39) missense probably benign 0.00
R6457:Cox18 UTSW 5 90,371,548 (GRCm39) missense probably benign 0.36
R7309:Cox18 UTSW 5 90,362,917 (GRCm39) missense possibly damaging 0.95
R8006:Cox18 UTSW 5 90,371,672 (GRCm39) missense probably damaging 0.99
R8536:Cox18 UTSW 5 90,362,877 (GRCm39) missense probably damaging 0.96
Posted On 2013-12-09