Incidental Mutation 'IGL02650:Cox7a1'
ID 302098
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Cox7a1
Ensembl Gene ENSMUSG00000074218
Gene Name cytochrome c oxidase subunit 7A1
Synonyms COX7AM, COX7AH, COX7A, COX7AH
Accession Numbers
Essential gene? Not available question?
Stock # IGL02650
Quality Score
Status
Chromosome 7
Chromosomal Location 29883596-29885455 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 29884562 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Valine at position 32 (E32V)
Ref Sequence ENSEMBL: ENSMUSP00000146960 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000001845] [ENSMUST00000085668] [ENSMUST00000098594] [ENSMUST00000108196] [ENSMUST00000126116] [ENSMUST00000208441]
AlphaFold P56392
Predicted Effect probably benign
Transcript: ENSMUST00000001845
SMART Domains Protein: ENSMUSP00000001845
Gene: ENSMUSG00000001794

DomainStartEndE-ValueType
low complexity region 10 64 N/A INTRINSIC
EFh 143 171 3.93e0 SMART
EFh 173 201 1.42e1 SMART
EFh 238 265 6.09e1 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000085668
SMART Domains Protein: ENSMUSP00000082811
Gene: ENSMUSG00000066647

DomainStartEndE-ValueType
internal_repeat_1 50 74 2.89e-6 PROSPERO
internal_repeat_1 106 130 2.89e-6 PROSPERO
Predicted Effect probably benign
Transcript: ENSMUST00000098594
AA Change: E23V

PolyPhen 2 Score 0.323 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000096193
Gene: ENSMUSG00000074218
AA Change: E23V

DomainStartEndE-ValueType
Pfam:COX7a 23 79 1.3e-34 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000108196
SMART Domains Protein: ENSMUSP00000103831
Gene: ENSMUSG00000001794

DomainStartEndE-ValueType
EFh 75 103 3.93e0 SMART
EFh 105 133 1.42e1 SMART
EFh 170 197 6.09e1 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000126116
SMART Domains Protein: ENSMUSP00000117951
Gene: ENSMUSG00000001794

DomainStartEndE-ValueType
low complexity region 10 64 N/A INTRINSIC
EFh 143 171 3.93e0 SMART
EFh 173 201 1.42e1 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000129761
Predicted Effect noncoding transcript
Transcript: ENSMUST00000141851
Predicted Effect noncoding transcript
Transcript: ENSMUST00000148973
Predicted Effect noncoding transcript
Transcript: ENSMUST00000207082
Predicted Effect possibly damaging
Transcript: ENSMUST00000208441
AA Change: E32V

PolyPhen 2 Score 0.872 (Sensitivity: 0.83; Specificity: 0.93)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000209028
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 polypeptide 1 (muscle isoform) of subunit VIIa and the polypeptide 1 is present only in muscle tissues. Other polypeptides of subunit VIIa are present in both muscle and nonmuscle tissues, and are encoded by different genes. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit some premature death and dilated cardiomyopathy. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 36 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4932414N04Rik A G 2: 68,571,881 (GRCm39) T586A probably benign Het
Acads G T 5: 115,250,874 (GRCm39) T141N probably benign Het
Ankmy1 C T 1: 92,808,745 (GRCm39) R721H probably damaging Het
Appl1 A G 14: 26,672,665 (GRCm39) V236A possibly damaging Het
Arhgef5 C T 6: 43,249,869 (GRCm39) Q207* probably null Het
Atp2a3 C A 11: 72,866,165 (GRCm39) H262N probably benign Het
Atp6v0a2 G T 5: 124,789,426 (GRCm39) probably benign Het
Cenpf T C 1: 189,384,670 (GRCm39) K2537E possibly damaging Het
Dis3 A T 14: 99,336,221 (GRCm39) M95K probably benign Het
Dnah5 A T 15: 28,289,193 (GRCm39) probably benign Het
Dock10 T A 1: 80,551,840 (GRCm39) Y665F probably damaging Het
Dynlt5 C A 4: 102,845,803 (GRCm39) Q12K probably benign Het
Ghsr A T 3: 27,429,004 (GRCm39) Q343L probably benign Het
Gm3252 T A 14: 4,746,353 (GRCm38) V215E probably damaging Het
Gm9979 A G 13: 40,859,225 (GRCm39) noncoding transcript Het
Grik2 A T 10: 48,977,331 (GRCm39) M867K probably benign Het
Grm7 A G 6: 111,335,919 (GRCm39) T777A probably damaging Het
Hc T A 2: 34,890,886 (GRCm39) Q1310L possibly damaging Het
Ifi44 A G 3: 151,451,492 (GRCm39) F205L probably damaging Het
Igkv4-86 T C 6: 68,887,617 (GRCm39) I40V probably benign Het
Jag1 T C 2: 136,957,505 (GRCm39) D69G possibly damaging Het
Lrch1 T C 14: 75,051,138 (GRCm39) D333G probably damaging Het
Mapre3 T A 5: 31,022,053 (GRCm39) I187N probably damaging Het
Myo15b T C 11: 115,777,337 (GRCm39) probably null Het
Nanos2 C T 7: 18,721,794 (GRCm39) P89S probably damaging Het
Or4c109 T A 2: 88,818,424 (GRCm39) M41L probably benign Het
Parp16 G A 9: 65,141,098 (GRCm39) V223I probably damaging Het
Rnf123 A G 9: 107,946,947 (GRCm39) M231T probably benign Het
Suco C A 1: 161,676,322 (GRCm39) probably benign Het
Synj1 G T 16: 90,773,584 (GRCm39) T459N probably benign Het
Taf4b C T 18: 14,975,040 (GRCm39) Q732* probably null Het
Tas2r102 A G 6: 132,739,173 (GRCm39) N27S probably null Het
Tll1 C T 8: 64,500,031 (GRCm39) probably benign Het
Vmn1r168 A G 7: 23,240,916 (GRCm39) I258V probably benign Het
Vmn2r71 T A 7: 85,273,535 (GRCm39) M783K probably damaging Het
Vmn2r98 G A 17: 19,301,223 (GRCm39) V742I probably benign Het
Other mutations in Cox7a1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL03034:Cox7a1 APN 7 29,884,693 (GRCm39) splice site probably benign
R9629:Cox7a1 UTSW 7 29,884,583 (GRCm39) missense probably damaging 1.00
Posted On 2015-04-16