Incidental Mutation 'IGL02260:Cox18'
ID 286706
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 # IGL02260
Quality Score
Status
Chromosome 5
Chromosomal Location 90362583-90371860 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 90365384 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Isoleucine at position 272 (V272I)
Ref Sequence ENSEMBL: ENSMUSP00000113353 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000048363] [ENSMUST00000118816] [ENSMUST00000148480]
AlphaFold Q8VC74
Predicted Effect possibly damaging
Transcript: ENSMUST00000048363
AA Change: V271I

PolyPhen 2 Score 0.941 (Sensitivity: 0.80; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000044144
Gene: ENSMUSG00000035505
AA Change: V271I

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 possibly damaging
Transcript: ENSMUST00000118816
AA Change: V272I

PolyPhen 2 Score 0.941 (Sensitivity: 0.80; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000113353
Gene: ENSMUSG00000035505
AA Change: V272I

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: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgre1 C T 17: 57,754,891 (GRCm39) A663V probably benign Het
Atg2b A T 12: 105,602,699 (GRCm39) probably benign Het
B4galt6 T C 18: 20,833,804 (GRCm39) I194V probably benign Het
Caprin1 T C 2: 103,609,714 (GRCm39) Y188C probably damaging Het
Ccdc85a A G 11: 28,526,672 (GRCm39) F284S possibly damaging Het
Ccdc88b A T 19: 6,832,717 (GRCm39) probably benign Het
Dars1 A T 1: 128,299,898 (GRCm39) M362K probably benign Het
Ddi1 A T 9: 6,265,760 (GRCm39) M203K probably benign Het
Dlg4 G A 11: 69,933,093 (GRCm39) G500R probably damaging Het
Ebf3 G A 7: 136,807,919 (GRCm39) P375S probably damaging Het
Eif5b T A 1: 38,084,537 (GRCm39) L842M possibly damaging Het
Fhdc1 G A 3: 84,352,042 (GRCm39) A1061V possibly damaging Het
Gm5581 T C 6: 131,144,909 (GRCm39) noncoding transcript Het
Mapk10 A T 5: 103,186,534 (GRCm39) D29E probably benign Het
Mib2 C T 4: 155,745,628 (GRCm39) R61H probably damaging Het
Mki67 A G 7: 135,303,697 (GRCm39) S724P probably benign Het
Mtor T C 4: 148,622,758 (GRCm39) I1946T probably damaging Het
Myh14 A G 7: 44,260,995 (GRCm39) L1873P probably damaging Het
Myom1 C T 17: 71,415,310 (GRCm39) Q1226* probably null Het
Neb A G 2: 52,095,668 (GRCm39) L4858P probably damaging Het
Or51f5 A T 7: 102,424,114 (GRCm39) I128F probably damaging Het
Or5m9b C A 2: 85,905,816 (GRCm39) T244K possibly damaging Het
Or5p76 T C 7: 108,122,492 (GRCm39) I222V probably benign Het
Pcdhb14 C T 18: 37,583,086 (GRCm39) H731Y probably benign Het
Prdm16 T C 4: 154,412,744 (GRCm39) N1087S probably benign Het
Prdm2 C T 4: 142,861,157 (GRCm39) G711D probably damaging Het
Proser1 G A 3: 53,386,365 (GRCm39) G749D probably damaging Het
Ptch1 A T 13: 63,713,166 (GRCm39) probably benign Het
Pus10 A T 11: 23,657,548 (GRCm39) K233* probably null Het
Rasa2 A G 9: 96,426,372 (GRCm39) Y825H probably benign Het
Tbcd T C 11: 121,494,104 (GRCm39) F969S probably damaging Het
Tbp T A 17: 15,724,878 (GRCm39) S133T probably damaging Het
Tnks C T 8: 35,310,137 (GRCm39) G1062D probably damaging Het
Tnrc6b T A 15: 80,764,372 (GRCm39) S625T probably damaging Het
Triobp T C 15: 78,850,562 (GRCm39) S239P probably benign Het
Ubiad1 T C 4: 148,528,564 (GRCm39) D115G probably benign Het
Uckl1 A G 2: 181,211,381 (GRCm39) S483P probably damaging Het
Vill A G 9: 118,887,509 (GRCm39) D91G probably benign Het
Wdr62 C A 7: 29,970,207 (GRCm39) C200F probably damaging Het
Zfp341 G A 2: 154,483,969 (GRCm39) C586Y possibly damaging Het
Zfp687 G A 3: 94,918,575 (GRCm39) T399I possibly damaging Het
Zp1 G T 19: 10,894,078 (GRCm39) probably benign Het
Zzz3 T A 3: 152,157,720 (GRCm39) D263E probably benign Het
Other mutations in Cox18
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01567:Cox18 APN 5 90,365,447 (GRCm39) nonsense probably null
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 2015-04-16