Incidental Mutation 'IGL00919:Coa7'
ID 278068
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 # IGL00919
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: 24 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Arfgef1 A G 1: 10,243,462 (GRCm39) V1029A probably damaging Het
Arhgap9 T C 10: 127,163,762 (GRCm39) probably benign Het
Ccdc63 T C 5: 122,262,982 (GRCm39) probably benign Het
Cfap206 C T 4: 34,721,562 (GRCm39) S162N probably damaging Het
Ctps1 A G 4: 120,424,545 (GRCm39) V23A probably benign Het
Ehd4 T C 2: 119,927,535 (GRCm39) E333G possibly damaging Het
Espl1 T C 15: 102,207,064 (GRCm39) V176A probably benign Het
Fbxo41 A G 6: 85,455,552 (GRCm39) I544T probably damaging Het
Fut9 A G 4: 25,620,316 (GRCm39) V166A possibly damaging Het
Kirrel3 A G 9: 34,926,549 (GRCm39) probably null Het
Nell2 T A 15: 95,281,608 (GRCm39) D366V possibly damaging Het
Neurod4 A T 10: 130,106,683 (GRCm39) I197N probably damaging Het
Nlrp9c A T 7: 26,093,481 (GRCm39) Y61* probably null Het
Or4c121 T G 2: 89,023,848 (GRCm39) M177L probably benign Het
Pcdh1 T A 18: 38,335,865 (GRCm39) K118* probably null Het
Phf12 T A 11: 77,874,166 (GRCm39) I10N probably damaging Het
Ptprc A T 1: 138,041,380 (GRCm39) C250S probably damaging Het
Rtl8c A G X: 52,610,187 (GRCm39) T59A possibly damaging Het
Serpine1 A G 5: 137,092,376 (GRCm39) I377T probably benign Het
Shank2 A T 7: 143,965,008 (GRCm39) D865V probably damaging Het
Ski A T 4: 155,306,799 (GRCm39) V60E possibly damaging Het
St7l T A 3: 104,833,782 (GRCm39) L481H probably damaging Het
Tmpo A G 10: 90,998,662 (GRCm39) I375T probably damaging Het
Ubr5 T C 15: 38,041,086 (GRCm39) D266G probably damaging Het
Other mutations in Coa7
AlleleSourceChrCoordTypePredicted EffectPPH Score
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
IGL00924: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