Incidental Mutation 'R6515:Cox17'
ID 520631
Institutional Source Beutler Lab
Gene Symbol Cox17
Ensembl Gene ENSMUSG00000046516
Gene Name cytochrome c oxidase assembly protein 17, copper chaperone
Synonyms COX17
MMRRC Submission 044642-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R6515 (G1)
Quality Score 167.009
Status Validated
Chromosome 16
Chromosomal Location 38167353-38173125 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 38167557 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Alanine to Glutamic Acid at position 32 (A32E)
Ref Sequence ENSEMBL: ENSMUSP00000113430 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000050273] [ENSMUST00000119704] [ENSMUST00000120495]
AlphaFold P56394
Predicted Effect probably damaging
Transcript: ENSMUST00000050273
AA Change: A32E

PolyPhen 2 Score 0.966 (Sensitivity: 0.77; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000054086
Gene: ENSMUSG00000046516
AA Change: A32E

DomainStartEndE-ValueType
Pfam:COX17 15 63 7.3e-28 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000119704
AA Change: A32E

PolyPhen 2 Score 0.966 (Sensitivity: 0.77; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000112386
Gene: ENSMUSG00000095464
AA Change: A32E

DomainStartEndE-ValueType
Pfam:COX17 18 63 3.4e-25 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000120495
AA Change: A32E

PolyPhen 2 Score 0.966 (Sensitivity: 0.77; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000113430
Gene: ENSMUSG00000046516
AA Change: A32E

DomainStartEndE-ValueType
Pfam:COX17 15 63 7.3e-28 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000134709
Predicted Effect noncoding transcript
Transcript: ENSMUST00000144812
Predicted Effect noncoding transcript
Transcript: ENSMUST00000152868
Predicted Effect noncoding transcript
Transcript: ENSMUST00000156026
Meta Mutation Damage Score 0.1180 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 97.8%
  • 20x: 93.1%
Validation Efficiency 100% (41/41)
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 a protein which is not a structural subunit, but may be involved in the recruitment of copper to mitochondria for incorporation into the COX apoenzyme. This protein shares 92% amino acid sequence identity with mouse and rat Cox17 proteins. This gene is no longer considered to be a candidate gene for COX deficiency. A pseudogene COX17P has been found on chromosome 13. [provided by RefSeq, Jul 2008]
PHENOTYPE: Embryos homozygous for a targeted null mutation are growth retarded and die between E8.5 and E10, with severe reductions in cytochrome c oxidase activity at E6.5. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ap1s3 T C 1: 79,592,044 (GRCm39) D102G probably damaging Het
Apcdd1 T A 18: 63,084,910 (GRCm39) M369K probably damaging Het
Atp4a A G 7: 30,411,903 (GRCm39) K46R possibly damaging Het
Bcl9l A G 9: 44,419,171 (GRCm39) probably null Het
Cabyr A G 18: 12,887,340 (GRCm39) S324G possibly damaging Het
Casp8ap2 A G 4: 32,646,423 (GRCm39) D1832G possibly damaging Het
Cdk4 C T 10: 126,902,052 (GRCm39) P256S probably null Het
Cnot6l C A 5: 96,309,537 (GRCm39) probably benign Het
Cyp27b1 G T 10: 126,884,119 (GRCm39) probably benign Het
Enpp2 T A 15: 54,723,489 (GRCm39) N628I possibly damaging Het
Ggcx T C 6: 72,402,815 (GRCm39) C258R probably benign Het
Hbb-bh1 T C 7: 103,491,974 (GRCm39) D80G probably damaging Het
Hoxb5 A T 11: 96,195,908 (GRCm39) D252V probably damaging Het
Hspa4l A G 3: 40,736,014 (GRCm39) D545G possibly damaging Het
Hspa5 T A 2: 34,662,416 (GRCm39) V28E probably benign Het
Ifit1bl1 T C 19: 34,571,899 (GRCm39) Y186C probably damaging Het
Itpr3 C T 17: 27,310,344 (GRCm39) A403V probably benign Het
Kif19b T C 5: 140,480,779 (GRCm39) S970P possibly damaging Het
Klra17 A T 6: 129,808,462 (GRCm39) I257N probably damaging Het
Megf6 C T 4: 154,343,376 (GRCm39) H662Y possibly damaging Het
Mfsd6 T C 1: 52,700,120 (GRCm39) K676R probably damaging Het
Nutm1 A C 2: 112,086,665 (GRCm39) L22R probably benign Het
Oas1f T C 5: 120,986,497 (GRCm39) V150A probably damaging Het
Or10ak13 T C 4: 118,639,467 (GRCm39) Y105C probably benign Het
Or4f62 T C 2: 111,986,710 (GRCm39) L138P probably benign Het
Pik3ap1 A G 19: 41,364,585 (GRCm39) Y45H probably benign Het
Pnlip T C 19: 58,661,547 (GRCm39) S79P probably damaging Het
Ppfia3 T C 7: 44,989,657 (GRCm39) D1185G possibly damaging Het
Pphln1-ps1 G A 16: 13,494,820 (GRCm39) probably benign Het
Rbm34 A T 8: 127,688,682 (GRCm39) S217T possibly damaging Het
Rbm44 T C 1: 91,092,860 (GRCm39) I820T probably damaging Het
Rnf151 A T 17: 24,935,391 (GRCm39) L180Q probably benign Het
Sec24d G A 3: 123,136,719 (GRCm39) R484Q possibly damaging Het
Spop C A 11: 95,376,761 (GRCm39) D271E possibly damaging Het
Svep1 C T 4: 58,088,280 (GRCm39) G1723D probably damaging Het
Tenm3 G C 8: 48,870,257 (GRCm39) Q179E probably benign Het
Thap12 A G 7: 98,356,302 (GRCm39) E63G probably damaging Het
Thsd7a T A 6: 12,501,085 (GRCm39) T441S possibly damaging Het
Tle6 G A 10: 81,427,810 (GRCm39) H482Y probably damaging Het
Tmem184a A G 5: 139,794,193 (GRCm39) F177L probably benign Het
Uggt2 A T 14: 119,315,131 (GRCm39) S313T possibly damaging Het
Unc13a A G 8: 72,100,584 (GRCm39) I1068T probably benign Het
Xirp1 T C 9: 119,845,983 (GRCm39) R967G probably benign Het
Other mutations in Cox17
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0010:Cox17 UTSW 16 38,167,532 (GRCm39) missense possibly damaging 0.71
R0226:Cox17 UTSW 16 38,169,638 (GRCm39) missense probably damaging 0.98
R2088:Cox17 UTSW 16 38,167,542 (GRCm39) missense probably damaging 0.99
Predicted Primers PCR Primer
(F):5'- ACTTACTTCCGTCCGGAGAG -3'
(R):5'- TGGGATCAATGTAACCTCTTGC -3'

Sequencing Primer
(F):5'- CCTTCGATTGACTGCGGAAG -3'
(R):5'- GATCAATGTAACCTCTTGCCCTCTC -3'
Posted On 2018-06-06