Incidental Mutation 'R1614:Cox7c'
ID 177016
Institutional Source Beutler Lab
Gene Symbol Cox7c
Ensembl Gene ENSMUSG00000017778
Gene Name cytochrome c oxidase subunit 7C
Synonyms Cox7c1, COXVIIc
MMRRC Submission 039651-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R1614 (G1)
Quality Score 225
Status Validated
Chromosome 13
Chromosomal Location 86192917-86194914 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 86193904 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Leucine at position 40 (F40L)
Ref Sequence ENSEMBL: ENSMUSP00000117385 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000078764] [ENSMUST00000131011] [ENSMUST00000132233]
AlphaFold P17665
Predicted Effect noncoding transcript
Transcript: ENSMUST00000017922
Predicted Effect probably benign
Transcript: ENSMUST00000078764
AA Change: F15L

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000082983
Predicted Effect probably benign
Transcript: ENSMUST00000131011
AA Change: F54L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000115419
Gene: ENSMUSG00000017778
AA Change: F54L

DomainStartEndE-ValueType
Pfam:COX7C 1 62 1.1e-28 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000132233
AA Change: F40L

PolyPhen 2 Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.0%
  • 3x: 98.1%
  • 10x: 95.4%
  • 20x: 89.4%
Validation Efficiency 100% (53/53)
Allele List at MGI
Other mutations in this stock
Total: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Arl9 A G 5: 77,158,412 (GRCm39) T165A probably benign Het
Atpaf1 A T 4: 115,653,954 (GRCm39) K201N possibly damaging Het
Cacna1b G T 2: 24,580,819 (GRCm39) Q676K possibly damaging Het
Ccdc88c A T 12: 100,879,243 (GRCm39) H1959Q probably benign Het
Cep162 T C 9: 87,094,985 (GRCm39) D808G probably damaging Het
Chct1 T G 11: 85,063,690 (GRCm39) S28A possibly damaging Het
Chtf18 A G 17: 25,946,064 (GRCm39) L42P probably benign Het
Dock7 C T 4: 98,949,517 (GRCm39) V442I probably benign Het
Dst T C 1: 34,314,344 (GRCm39) F4198S probably damaging Het
Fam13a T A 6: 58,917,169 (GRCm39) D569V probably damaging Het
Gm6741 T A 17: 91,544,424 (GRCm39) H62Q probably benign Het
Gnptab A G 10: 88,250,451 (GRCm39) T172A probably benign Het
Greb1 A G 12: 16,751,172 (GRCm39) S1013P probably damaging Het
Insl5 A T 4: 102,883,846 (GRCm39) L25* probably null Het
Ipo13 A G 4: 117,761,815 (GRCm39) S462P probably benign Het
Itgb1 G A 8: 129,446,546 (GRCm39) C401Y probably damaging Het
Kcnh7 G T 2: 62,680,948 (GRCm39) A213E probably benign Het
Kcnv1 G A 15: 44,977,840 (GRCm39) T66M probably damaging Het
Mesp2 T C 7: 79,461,367 (GRCm39) S231P probably benign Het
Nabp1 T C 1: 51,510,511 (GRCm39) N164D possibly damaging Het
Nop53 A G 7: 15,679,890 (GRCm39) V30A probably benign Het
Or1j17 T G 2: 36,578,321 (GRCm39) Y102* probably null Het
Or4a73 T A 2: 89,421,040 (GRCm39) I140L possibly damaging Het
Or4f54 T A 2: 111,123,411 (GRCm39) V266E probably damaging Het
Or4f62 T A 2: 111,986,862 (GRCm39) C189S probably damaging Het
Pcsk5 G A 19: 17,492,620 (GRCm39) R918C probably damaging Het
Pecam1 T C 11: 106,571,905 (GRCm39) D554G probably benign Het
Polr2a T C 11: 69,634,199 (GRCm39) I744V possibly damaging Het
Pop1 C A 15: 34,530,356 (GRCm39) A918D possibly damaging Het
Ppp2r5e C G 12: 75,516,341 (GRCm39) A239P probably damaging Het
Prmt3 A T 7: 49,476,467 (GRCm39) I359F possibly damaging Het
Proz G A 8: 13,116,904 (GRCm39) C152Y probably damaging Het
Ptgfr A C 3: 151,507,416 (GRCm39) Y316D probably benign Het
Ralgapa2 G T 2: 146,230,532 (GRCm39) S1011Y probably damaging Het
Rnf43 C T 11: 87,622,485 (GRCm39) R529* probably null Het
Slc17a6 G A 7: 51,296,025 (GRCm39) probably benign Het
Slc25a19 A T 11: 115,507,449 (GRCm39) C224* probably null Het
Smarcd3 A G 5: 24,799,874 (GRCm39) S299P possibly damaging Het
Stard9 T C 2: 120,528,156 (GRCm39) F1471S possibly damaging Het
Strada A C 11: 106,059,145 (GRCm39) V211G probably damaging Het
Tom1l1 T C 11: 90,574,080 (GRCm39) E68G probably damaging Het
Vmn2r27 T G 6: 124,200,893 (GRCm39) I355L probably benign Het
Vmn2r68 A T 7: 84,870,946 (GRCm39) M779K possibly damaging Het
Zbtb18 T C 1: 177,274,736 (GRCm39) L23P probably damaging Het
Zfp112 G T 7: 23,826,024 (GRCm39) C664F probably damaging Het
Zfp955a A T 17: 33,461,306 (GRCm39) N275K possibly damaging Het
Other mutations in Cox7c
AlleleSourceChrCoordTypePredicted EffectPPH Score
R1667:Cox7c UTSW 13 86,194,003 (GRCm39) missense probably benign 0.01
R5374:Cox7c UTSW 13 86,194,739 (GRCm39) missense probably benign 0.00
R5981:Cox7c UTSW 13 86,194,780 (GRCm39) missense possibly damaging 0.80
R8848:Cox7c UTSW 13 86,193,900 (GRCm39) missense possibly damaging 0.49
R9112:Cox7c UTSW 13 86,194,837 (GRCm39) unclassified probably benign
Predicted Primers PCR Primer
(F):5'- TGTCAAAGGTTGGCTATCCTTAGTGC -3'
(R):5'- AGACCCTTACACTTAATAGGGCCTACC -3'

Sequencing Primer
(F):5'- GAACAAGATTATCCTCTGTAGGAACC -3'
(R):5'- ATAGGGCCTACCAACTGGTATTC -3'
Posted On 2014-04-24