Incidental Mutation 'IGL03034:Cox7a1'
ID 408598
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 # IGL03034
Quality Score
Status
Chromosome 7
Chromosomal Location 29883596-29885455 bp(+) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) A to G at 29884693 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000146960 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000001845] [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: ENSMUST00000098594
SMART Domains Protein: ENSMUSP00000096193
Gene: ENSMUSG00000074218

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 probably benign
Transcript: ENSMUST00000208441
Predicted Effect noncoding transcript
Transcript: ENSMUST00000209028
Predicted Effect noncoding transcript
Transcript: ENSMUST00000207082
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: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
5530401A14Rik C T 11: 81,780,908 (GRCm39) probably benign Het
Ablim2 A G 5: 35,985,509 (GRCm39) T269A probably benign Het
Asgr2 G T 11: 69,989,089 (GRCm39) G178W probably damaging Het
Chtf18 A G 17: 25,946,320 (GRCm39) probably benign Het
Cnmd C T 14: 79,879,368 (GRCm39) A257T probably benign Het
Cpox C T 16: 58,495,718 (GRCm39) T345M probably damaging Het
Crisp1 T C 17: 40,618,619 (GRCm39) T81A probably benign Het
Dcc T A 18: 71,708,214 (GRCm39) R501* probably null Het
Dlx6 A C 6: 6,863,807 (GRCm39) Q143P probably benign Het
Dpp10 T A 1: 123,269,348 (GRCm39) Y687F probably damaging Het
Eif2b1 A G 5: 124,709,894 (GRCm39) V228A probably benign Het
Enpep T C 3: 129,092,599 (GRCm39) D528G probably damaging Het
Fbxo6 G A 4: 148,230,579 (GRCm39) Q228* probably null Het
Iars1 T A 13: 49,843,965 (GRCm39) N146K possibly damaging Het
Kctd9 T A 14: 67,971,728 (GRCm39) S268T probably benign Het
Kifap3 G A 1: 163,715,846 (GRCm39) V749M probably benign Het
Mdm4 T C 1: 132,938,809 (GRCm39) D94G probably damaging Het
Mllt10 T G 2: 18,069,847 (GRCm39) M1R probably null Het
Mtcl1 T C 17: 66,651,193 (GRCm39) Y1424C probably damaging Het
Mybpc2 A T 7: 44,161,321 (GRCm39) I549N possibly damaging Het
Myocd T C 11: 65,109,511 (GRCm39) T87A probably benign Het
Nr3c2 T G 8: 77,914,267 (GRCm39) Y824* probably null Het
Omg T A 11: 79,392,947 (GRCm39) T304S possibly damaging Het
Or4b1 A G 2: 89,980,177 (GRCm39) Y58H probably damaging Het
Or52p2 G A 7: 102,237,147 (GRCm39) H268Y probably benign Het
Or5an1b T C 19: 12,300,018 (GRCm39) T58A possibly damaging Het
Or5b97 T C 19: 12,879,121 (GRCm39) T8A possibly damaging Het
Or6c2 A T 10: 129,362,527 (GRCm39) I144F probably benign Het
Pde3a G A 6: 141,438,126 (GRCm39) probably benign Het
Phf20l1 A G 15: 66,469,252 (GRCm39) K129E probably damaging Het
Phka2 G T X: 159,360,546 (GRCm39) E858* probably null Het
Pp2d1 T C 17: 53,815,081 (GRCm39) T548A possibly damaging Het
Prr14l G A 5: 32,984,782 (GRCm39) A1571V possibly damaging Het
Rbms3 A G 9: 117,080,879 (GRCm39) probably benign Het
Sparcl1 T C 5: 104,241,103 (GRCm39) E107G probably damaging Het
Stra6l A G 4: 45,885,392 (GRCm39) D620G probably benign Het
Traf3ip2 A T 10: 39,502,215 (GRCm39) K121I probably damaging Het
Ttc34 T C 4: 154,945,640 (GRCm39) S734P probably damaging Het
Zfp953 C T 13: 67,491,526 (GRCm39) C142Y probably damaging Het
Zfp955b T A 17: 33,521,142 (GRCm39) C204S probably benign Het
Other mutations in Cox7a1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02650:Cox7a1 APN 7 29,884,562 (GRCm39) missense possibly damaging 0.87
R9629:Cox7a1 UTSW 7 29,884,583 (GRCm39) missense probably damaging 1.00
Posted On 2016-08-02