Incidental Mutation 'IGL00391:Coq9'
ID 6213
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Coq9
Ensembl Gene ENSMUSG00000031782
Gene Name coenzyme Q9
Synonyms 2310005O14Rik
Accession Numbers
Essential gene? Probably non essential (E-score: 0.202) question?
Stock # IGL00391
Quality Score
Status
Chromosome 8
Chromosomal Location 95565041-95581523 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 95577145 bp (GRCm39)
Zygosity Heterozygous
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]
AlphaFold Q8K1Z0
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 probably benign
Transcript: ENSMUST00000211859
Predicted Effect noncoding transcript
Transcript: ENSMUST00000161208
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
Adam34l A T 8: 44,078,666 (GRCm39) F519L probably damaging Het
Adgrl3 G A 5: 81,872,071 (GRCm39) V990M probably damaging Het
Ap4b1 A G 3: 103,728,858 (GRCm39) T499A probably benign Het
Cacna2d4 T C 6: 119,314,894 (GRCm39) probably benign Het
Ccr5 T A 9: 123,924,443 (GRCm39) D15E possibly damaging Het
Clca4b A G 3: 144,621,322 (GRCm39) V584A possibly damaging Het
Cmtr1 T C 17: 29,893,236 (GRCm39) M85T probably damaging Het
Col6a3 T A 1: 90,755,977 (GRCm39) H104L probably damaging Het
Elmod1 A G 9: 53,831,682 (GRCm39) probably null Het
Fam47e A C 5: 92,727,522 (GRCm39) E143D probably damaging Het
Faxc A G 4: 21,948,725 (GRCm39) K146E probably damaging Het
Myo7b A C 18: 32,154,609 (GRCm39) probably benign Het
Nmur1 G A 1: 86,314,193 (GRCm39) R381C probably damaging Het
Nsd2 T G 5: 34,013,077 (GRCm39) D469E probably damaging Het
Osbpl6 G A 2: 76,420,783 (GRCm39) C786Y probably damaging Het
Osgin2 T C 4: 16,006,439 (GRCm39) Y85C probably damaging Het
Otof A G 5: 30,532,967 (GRCm39) C1587R probably damaging Het
Plaat5 A T 19: 7,596,631 (GRCm39) probably benign Het
Plekha2 A G 8: 25,547,343 (GRCm39) V247A probably damaging Het
Plppr5 A T 3: 117,465,592 (GRCm39) N281I possibly damaging Het
Popdc3 A G 10: 45,193,922 (GRCm39) probably null Het
Ppp1r12a A G 10: 108,034,709 (GRCm39) N85D probably damaging Het
Serpinb8 A G 1: 107,534,714 (GRCm39) S262G probably benign Het
Sspo G A 6: 48,474,320 (GRCm39) G4780R probably damaging Het
Ush2a A G 1: 188,648,258 (GRCm39) E4621G probably damaging Het
Other mutations in Coq9
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00909:Coq9 APN 8 95,578,530 (GRCm39) missense possibly damaging 0.94
R1144:Coq9 UTSW 8 95,569,251 (GRCm39) missense probably benign 0.03
R2897:Coq9 UTSW 8 95,579,752 (GRCm39) missense probably damaging 1.00
R2898:Coq9 UTSW 8 95,579,752 (GRCm39) missense probably damaging 1.00
R4436:Coq9 UTSW 8 95,579,743 (GRCm39) missense probably benign 0.00
R4578:Coq9 UTSW 8 95,580,234 (GRCm39) missense probably benign 0.03
R4884:Coq9 UTSW 8 95,579,822 (GRCm39) missense probably benign 0.14
R6268:Coq9 UTSW 8 95,576,862 (GRCm39) missense probably benign 0.22
R6460:Coq9 UTSW 8 95,579,814 (GRCm39) missense probably damaging 0.99
R6902:Coq9 UTSW 8 95,577,180 (GRCm39) missense probably benign 0.02
R7767:Coq9 UTSW 8 95,577,214 (GRCm39) missense probably benign 0.05
R7981:Coq9 UTSW 8 95,569,285 (GRCm39) missense probably benign
R7994:Coq9 UTSW 8 95,579,785 (GRCm39) missense probably benign 0.18
R8956:Coq9 UTSW 8 95,576,886 (GRCm39) missense probably benign 0.02
Posted On 2012-04-20