Incidental Mutation 'IGL02154:Cox20'
ID 282172
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Cox20
Ensembl Gene ENSMUSG00000026500
Gene Name cytochrome c oxidase assembly protein 20
Synonyms Fam36a, 2310005N03Rik
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL02154
Quality Score
Status
Chromosome 1
Chromosomal Location 178146695-178150258 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 178150119 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Valine at position 98 (I98V)
Ref Sequence ENSEMBL: ENSMUSP00000027781 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000027781] [ENSMUST00000037748] [ENSMUST00000161769]
AlphaFold Q9D7J4
Predicted Effect probably benign
Transcript: ENSMUST00000027781
AA Change: I98V

PolyPhen 2 Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)
SMART Domains Protein: ENSMUSP00000027781
Gene: ENSMUSG00000026500
AA Change: I98V

DomainStartEndE-ValueType
Pfam:DUF3767 9 104 5.4e-15 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000037748
SMART Domains Protein: ENSMUSP00000047571
Gene: ENSMUSG00000039630

DomainStartEndE-ValueType
SAP 8 42 3.57e-11 SMART
low complexity region 70 96 N/A INTRINSIC
low complexity region 101 154 N/A INTRINSIC
low complexity region 155 171 N/A INTRINSIC
low complexity region 173 184 N/A INTRINSIC
low complexity region 194 207 N/A INTRINSIC
SPRY 307 439 2.35e-34 SMART
Pfam:AAA_33 475 619 2e-30 PFAM
coiled coil region 626 653 N/A INTRINSIC
low complexity region 657 675 N/A INTRINSIC
low complexity region 676 732 N/A INTRINSIC
low complexity region 736 750 N/A INTRINSIC
low complexity region 753 791 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000141846
Predicted Effect noncoding transcript
Transcript: ENSMUST00000154437
Predicted Effect noncoding transcript
Transcript: ENSMUST00000159117
Predicted Effect probably benign
Transcript: ENSMUST00000161769
SMART Domains Protein: ENSMUSP00000124147
Gene: ENSMUSG00000039630

DomainStartEndE-ValueType
SAP 8 42 3.57e-11 SMART
low complexity region 70 96 N/A INTRINSIC
low complexity region 101 154 N/A INTRINSIC
low complexity region 155 171 N/A INTRINSIC
low complexity region 173 184 N/A INTRINSIC
low complexity region 194 207 N/A INTRINSIC
SPRY 307 439 2.35e-34 SMART
Pfam:AAA_33 475 619 6.7e-31 PFAM
coiled coil region 626 653 N/A INTRINSIC
low complexity region 657 675 N/A INTRINSIC
low complexity region 676 732 N/A INTRINSIC
low complexity region 736 750 N/A INTRINSIC
low complexity region 753 773 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000162916
Predicted Effect probably benign
Transcript: ENSMUST00000189450
Predicted Effect probably benign
Transcript: ENSMUST00000188044
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 protein that plays a role in the assembly of cytochrome C oxidase, an important component of the respiratory pathway. It contains two transmembrane helices and localizes to the mitochondrial membrane. Mutations in this gene can cause mitochondrial complex IV deficiency, which results in ataxia and muscle hypotonia. There are multiple pseudogenes for this gene. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2015]
Allele List at MGI
Other mutations in this stock
Total: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Armc3 G A 2: 19,290,948 (GRCm39) probably null Het
Armh4 G A 14: 50,010,399 (GRCm39) T436I possibly damaging Het
AW551984 G A 9: 39,500,398 (GRCm39) R787C possibly damaging Het
Cadm1 A T 9: 47,725,201 (GRCm39) I321L probably benign Het
Cfap57 A G 4: 118,470,214 (GRCm39) L222P probably damaging Het
Dmrta1 A G 4: 89,580,150 (GRCm39) N370S probably benign Het
Dnah17 A G 11: 118,015,087 (GRCm39) F386L probably benign Het
Fam135b T C 15: 71,320,559 (GRCm39) I1323V probably benign Het
Fndc3b A G 3: 27,592,266 (GRCm39) S211P probably damaging Het
Galnt10 T G 11: 57,675,531 (GRCm39) L597V probably damaging Het
Gtf2e2 T C 8: 34,245,989 (GRCm39) probably null Het
Inpp4b T A 8: 82,696,130 (GRCm39) probably benign Het
Irag2 T G 6: 145,083,967 (GRCm39) M44R possibly damaging Het
Lacc1 A G 14: 77,270,727 (GRCm39) V269A probably benign Het
Mdn1 A G 4: 32,740,395 (GRCm39) D3750G probably benign Het
Mme A T 3: 63,250,976 (GRCm39) Q339L probably benign Het
Mmp3 A T 9: 7,453,662 (GRCm39) I428L probably benign Het
Myrf A T 19: 10,193,482 (GRCm39) I558N probably damaging Het
Or52e8 C T 7: 104,625,188 (GRCm39) M1I probably null Het
Phb1 A G 11: 95,565,997 (GRCm39) I94V possibly damaging Het
Prg4 T A 1: 150,330,613 (GRCm39) probably benign Het
Sirpb1a T C 3: 15,475,504 (GRCm39) T344A probably damaging Het
Skap2 T C 6: 51,989,308 (GRCm39) probably benign Het
Slc29a1 A G 17: 45,897,089 (GRCm39) I399T probably damaging Het
Sorl1 C T 9: 41,915,330 (GRCm39) V1300I probably benign Het
Tas2r117 T C 6: 132,780,678 (GRCm39) V272A probably benign Het
Tctn2 C A 5: 124,746,624 (GRCm39) noncoding transcript Het
Tmem51 T C 4: 141,759,089 (GRCm39) N220D probably damaging Het
Trak2 T C 1: 58,947,888 (GRCm39) D584G probably damaging Het
Vmn1r78 A G 7: 11,886,472 (GRCm39) I28V probably benign Het
Vmn2r95 A C 17: 18,672,248 (GRCm39) I662L probably benign Het
Vwa8 C A 14: 79,086,733 (GRCm39) R4S possibly damaging Het
Other mutations in Cox20
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02318:Cox20 APN 1 178,150,043 (GRCm39) splice site probably null
R2128:Cox20 UTSW 1 178,149,512 (GRCm39) missense probably benign 0.00
R4551:Cox20 UTSW 1 178,150,114 (GRCm39) missense probably benign 0.15
R5344:Cox20 UTSW 1 178,149,598 (GRCm39) unclassified probably benign
R6155:Cox20 UTSW 1 178,149,362 (GRCm39) missense possibly damaging 0.67
R7653:Cox20 UTSW 1 178,150,164 (GRCm39) missense probably benign 0.05
R7780:Cox20 UTSW 1 178,149,566 (GRCm39) missense probably benign 0.20
R7840:Cox20 UTSW 1 178,150,126 (GRCm39) missense probably benign 0.04
R9332:Cox20 UTSW 1 178,146,771 (GRCm39) nonsense probably null
Posted On 2015-04-16