Incidental Mutation 'IGL00924:Coa7'
ID 278077
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Coa7
Ensembl Gene ENSMUSG00000048351
Gene Name cytochrome c oxidase assembly factor 7
Synonyms D4Ertd796e, 2010305A19Rik, Selrc1
Accession Numbers
Essential gene? Probably essential (E-score: 0.883) question?
Stock # IGL00924
Quality Score
Status
Chromosome 4
Chromosomal Location 108185349-108197915 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 108195505 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glycine to Cysteine at position 145 (G145C)
Ref Sequence ENSEMBL: ENSMUSP00000114906 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000131656]
AlphaFold Q921H9
Predicted Effect noncoding transcript
Transcript: ENSMUST00000073764
Predicted Effect possibly damaging
Transcript: ENSMUST00000131656
AA Change: G145C

PolyPhen 2 Score 0.880 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000114906
Gene: ENSMUSG00000048351
AA Change: G145C

DomainStartEndE-ValueType
SEL1 34 66 2.16e2 SMART
SEL1 68 104 2.56e-3 SMART
SEL1 108 146 1.18e-2 SMART
SEL1 147 183 6.49e-5 SMART
SEL1 184 219 1.09e1 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000134394
Predicted Effect noncoding transcript
Transcript: ENSMUST00000141423
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Als2 A G 1: 59,255,021 (GRCm39) V112A probably benign Het
Atp1a4 T A 1: 172,074,339 (GRCm39) I305F probably damaging Het
AW209491 A G 13: 14,811,660 (GRCm39) N171S probably damaging Het
Bank1 G T 3: 135,953,395 (GRCm39) A120E probably damaging Het
Bdp1 T A 13: 100,234,087 (GRCm39) E206D possibly damaging Het
Brd1 T C 15: 88,613,612 (GRCm39) K428E possibly damaging Het
Ccdc42 A G 11: 68,485,447 (GRCm39) I191V probably benign Het
Cpm T G 10: 117,511,971 (GRCm39) I305S probably damaging Het
Cracd A G 5: 77,006,833 (GRCm39) T1065A unknown Het
Dlc1 A T 8: 37,405,368 (GRCm39) S140R probably benign Het
Dnajc14 A G 10: 128,653,188 (GRCm39) T674A probably benign Het
Dnajc7 A G 11: 100,475,111 (GRCm39) I437T possibly damaging Het
Entpd5 A T 12: 84,433,828 (GRCm39) V147E probably damaging Het
Gpr139 A G 7: 118,783,510 (GRCm39) C30R probably benign Het
Habp4 A G 13: 64,321,885 (GRCm39) D174G probably damaging Het
Has3 T C 8: 107,605,231 (GRCm39) F479S probably benign Het
Helb T A 10: 119,946,889 (GRCm39) K141N probably benign Het
Hnrnpm C A 17: 33,868,876 (GRCm39) R517L probably damaging Het
Kdm1b G A 13: 47,221,956 (GRCm39) R465H probably benign Het
Lrrc57 A T 2: 120,436,532 (GRCm39) M86K possibly damaging Het
Map7d1 A G 4: 126,132,398 (GRCm39) V258A probably damaging Het
Mtcl2 T G 2: 156,882,625 (GRCm39) M476L probably damaging Het
Mybbp1a T A 11: 72,334,393 (GRCm39) F216Y probably damaging Het
Ncan T A 8: 70,561,039 (GRCm39) M643L possibly damaging Het
Ngdn T C 14: 55,260,626 (GRCm39) I278T probably damaging Het
Or4c104 T C 2: 88,586,500 (GRCm39) D173G possibly damaging Het
Or9a4 C T 6: 40,548,388 (GRCm39) R23C probably benign Het
P4hb G T 11: 120,454,644 (GRCm39) Q245K probably benign Het
Pcx G A 19: 4,670,965 (GRCm39) V1089I probably benign Het
Phc3 A T 3: 30,990,624 (GRCm39) M498K probably damaging Het
Pkd1 T A 17: 24,790,601 (GRCm39) L1025* probably null Het
Sdhaf2 G A 19: 10,494,380 (GRCm39) P110S probably damaging Het
Slc22a20 T C 19: 6,020,544 (GRCm39) K538E probably benign Het
Spag11b T A 8: 19,192,656 (GRCm39) V78D probably damaging Het
Tgm3 T C 2: 129,880,294 (GRCm39) C367R probably damaging Het
Unc5a G A 13: 55,152,327 (GRCm39) E741K probably damaging Het
Vmn2r58 A T 7: 41,486,891 (GRCm39) L668H probably damaging Het
Wdr62 G A 7: 29,964,643 (GRCm39) T367I probably damaging Het
Wdr62 G A 7: 29,942,231 (GRCm39) P603S probably damaging Het
Xab2 G A 8: 3,661,723 (GRCm39) R577W probably damaging Het
Other mutations in Coa7
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00919:Coa7 APN 4 108,195,505 (GRCm39) missense possibly damaging 0.88
IGL00920:Coa7 APN 4 108,195,505 (GRCm39) missense possibly damaging 0.88
IGL00922:Coa7 APN 4 108,195,505 (GRCm39) missense possibly damaging 0.88
IGL03328:Coa7 APN 4 108,195,479 (GRCm39) missense probably damaging 0.98
IGL03342:Coa7 APN 4 108,189,426 (GRCm39) missense probably damaging 1.00
R0103:Coa7 UTSW 4 108,195,338 (GRCm39) missense possibly damaging 0.50
R0103:Coa7 UTSW 4 108,195,338 (GRCm39) missense possibly damaging 0.50
R0890:Coa7 UTSW 4 108,195,583 (GRCm39) missense probably damaging 0.99
R9310:Coa7 UTSW 4 108,195,510 (GRCm39) nonsense probably null
R9315:Coa7 UTSW 4 108,195,581 (GRCm39) missense probably benign 0.02
Posted On 2015-04-16