Incidental Mutation 'IGL00391:Coq9'
ID6213
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Coq9
Ensembl Gene ENSMUSG00000031782
Gene Namecoenzyme Q9
Synonyms2310005O14Rik
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.210) question?
Stock #IGL00391
Quality Score
Status
Chromosome8
Chromosomal Location94838321-94854895 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 94850517 bp
ZygosityHeterozygous
Amino Acid Change Lysine to Methionine at position 170 (K170M)
Ref Sequence ENSEMBL: ENSMUSP00000124695 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034234] [ENSMUST00000159871]
Predicted Effect possibly damaging
Transcript: ENSMUST00000034234
AA Change: K170M

PolyPhen 2 Score 0.914 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000034234
Gene: ENSMUSG00000031782
AA Change: K170M

DomainStartEndE-ValueType
low complexity region 9 24 N/A INTRINSIC
low complexity region 46 66 N/A INTRINSIC
low complexity region 83 92 N/A INTRINSIC
low complexity region 117 135 N/A INTRINSIC
Pfam:COQ9 205 281 1.6e-39 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000159424
Predicted Effect noncoding transcript
Transcript: ENSMUST00000159638
Predicted Effect probably damaging
Transcript: ENSMUST00000159871
AA Change: K170M

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000124695
Gene: ENSMUSG00000031782
AA Change: K170M

DomainStartEndE-ValueType
low complexity region 9 24 N/A INTRINSIC
low complexity region 46 66 N/A INTRINSIC
low complexity region 83 92 N/A INTRINSIC
low complexity region 117 135 N/A INTRINSIC
Pfam:COQ9 196 246 1.3e-20 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000160364
Predicted Effect noncoding transcript
Transcript: ENSMUST00000160779
Predicted Effect noncoding transcript
Transcript: ENSMUST00000161208
Predicted Effect probably benign
Transcript: ENSMUST00000211859
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This locus represents a mitochondrial ubiquinone biosynthesis gene. The encoded protein is likely necessary for biosynthesis of coenzyme Q10, as mutations at this locus have been associated with autosomal-recessive neonatal-onset primary coenzyme Q10 deficiency.[provided by RefSeq, Sep 2010]
PHENOTYPE: Mice homozygous for a knock-in allele exhibit premature death, encephalomyopathy, hair loss, weight loss, demyelination, cardiac fibrosis and abnromal mitochondrial function. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 25 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrl3 G A 5: 81,724,224 V990M probably damaging Het
Ap4b1 A G 3: 103,821,542 T499A probably benign Het
Cacna2d4 T C 6: 119,337,933 probably benign Het
Ccr5 T A 9: 124,124,406 D15E possibly damaging Het
Clca4b A G 3: 144,915,561 V584A possibly damaging Het
Cmtr1 T C 17: 29,674,262 M85T probably damaging Het
Col6a3 T A 1: 90,828,255 H104L probably damaging Het
Elmod1 A G 9: 53,924,398 probably null Het
Fam47e A C 5: 92,579,663 E143D probably damaging Het
Faxc A G 4: 21,948,725 K146E probably damaging Het
Gm5346 A T 8: 43,625,629 F519L probably damaging Het
Hrasls5 A T 19: 7,619,266 probably benign Het
Myo7b A C 18: 32,021,556 probably benign Het
Nmur1 G A 1: 86,386,471 R381C probably damaging Het
Nsd2 T G 5: 33,855,733 D469E probably damaging Het
Osbpl6 G A 2: 76,590,439 C786Y probably damaging Het
Osgin2 T C 4: 16,006,439 Y85C probably damaging Het
Otof A G 5: 30,375,623 C1587R probably damaging Het
Plekha2 A G 8: 25,057,327 V247A probably damaging Het
Plppr5 A T 3: 117,671,943 N281I possibly damaging Het
Popdc3 A G 10: 45,317,826 probably null Het
Ppp1r12a A G 10: 108,198,848 N85D probably damaging Het
Serpinb8 A G 1: 107,606,984 S262G probably benign Het
Sspo G A 6: 48,497,386 G4780R probably damaging Het
Ush2a A G 1: 188,916,061 E4621G probably damaging Het
Other mutations in Coq9
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00909:Coq9 APN 8 94851902 missense possibly damaging 0.94
R1144:Coq9 UTSW 8 94842623 missense probably benign 0.03
R2897:Coq9 UTSW 8 94853124 missense probably damaging 1.00
R2898:Coq9 UTSW 8 94853124 missense probably damaging 1.00
R4436:Coq9 UTSW 8 94853115 missense probably benign 0.00
R4578:Coq9 UTSW 8 94853606 missense probably benign 0.03
R4884:Coq9 UTSW 8 94853194 missense probably benign 0.14
R6268:Coq9 UTSW 8 94850234 missense probably benign 0.22
R6460:Coq9 UTSW 8 94853186 missense probably damaging 0.99
R6902:Coq9 UTSW 8 94850552 missense probably benign 0.02
R7767:Coq9 UTSW 8 94850586 missense probably benign 0.05
Posted On2012-04-20