Incidental Mutation 'IGL00919:Coa7'
ID278068
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Coa7
Ensembl Gene ENSMUSG00000048351
Gene Namecytochrome c oxidase assembly factor 7
SynonymsD4Ertd796e, Selrc1, 2010305A19Rik
Accession Numbers
Is this an essential gene? Possibly essential (E-score: 0.577) question?
Stock #IGL00919
Quality Score
Status
Chromosome4
Chromosomal Location108328140-108341544 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to T at 108338308 bp
ZygosityHeterozygous
Amino Acid Change Glycine to Cysteine at position 145 (G145C)
Ref Sequence ENSEMBL: ENSMUSP00000114906 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000131656]
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: 10,173,237 V1029A probably damaging Het
Arhgap9 T C 10: 127,327,893 probably benign Het
Ccdc63 T C 5: 122,124,919 probably benign Het
Cfap206 C T 4: 34,721,562 S162N probably damaging Het
Ctps A G 4: 120,567,348 V23A probably benign Het
Ehd4 T C 2: 120,097,054 E333G possibly damaging Het
Espl1 T C 15: 102,298,629 V176A probably benign Het
Fbxo41 A G 6: 85,478,570 I544T probably damaging Het
Fut9 A G 4: 25,620,316 V166A possibly damaging Het
Kirrel3 A G 9: 35,015,253 probably null Het
Nell2 T A 15: 95,383,727 D366V possibly damaging Het
Neurod4 A T 10: 130,270,814 I197N probably damaging Het
Nlrp9c A T 7: 26,394,056 Y61* probably null Het
Olfr1226 T G 2: 89,193,504 M177L probably benign Het
Pcdh1 T A 18: 38,202,812 K118* probably null Het
Phf12 T A 11: 77,983,340 I10N probably damaging Het
Ptprc A T 1: 138,113,642 C250S probably damaging Het
Rtl8c A G X: 53,608,220 T59A possibly damaging Het
Serpine1 A G 5: 137,063,522 I377T probably benign Het
Shank2 A T 7: 144,411,271 D865V probably damaging Het
Ski A T 4: 155,222,342 V60E possibly damaging Het
St7l T A 3: 104,926,466 L481H probably damaging Het
Tmpo A G 10: 91,162,800 I375T probably damaging Het
Ubr5 T C 15: 38,040,842 D266G probably damaging Het
Other mutations in Coa7
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00920:Coa7 APN 4 108338308 missense possibly damaging 0.88
IGL00922:Coa7 APN 4 108338308 missense possibly damaging 0.88
IGL00924:Coa7 APN 4 108338308 missense possibly damaging 0.88
IGL03328:Coa7 APN 4 108338282 missense probably damaging 0.98
IGL03342:Coa7 APN 4 108332229 missense probably damaging 1.00
R0103:Coa7 UTSW 4 108338141 missense possibly damaging 0.50
R0103:Coa7 UTSW 4 108338141 missense possibly damaging 0.50
R0890:Coa7 UTSW 4 108338386 missense probably damaging 0.99
Posted On2015-04-16