Incidental Mutation 'IGL00909:Coq9'
ID 27998
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 # IGL00909
Quality Score
Status
Chromosome 8
Chromosomal Location 95565041-95581523 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 95578530 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Phenylalanine at position 215 (L215F)
Ref Sequence ENSEMBL: ENSMUSP00000034234 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034234] [ENSMUST00000159871]
AlphaFold Q8K1Z0
Predicted Effect possibly damaging
Transcript: ENSMUST00000034234
AA Change: L215F

PolyPhen 2 Score 0.943 (Sensitivity: 0.80; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000034234
Gene: ENSMUSG00000031782
AA Change: L215F

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 benign
Transcript: ENSMUST00000159871
SMART Domains Protein: ENSMUSP00000124695
Gene: ENSMUSG00000031782

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: 35 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4931429L15Rik T A 9: 46,220,250 (GRCm39) D94V possibly damaging Het
Adamts20 T C 15: 94,277,694 (GRCm39) Y256C probably damaging Het
Ajm1 A G 2: 25,469,419 (GRCm39) L164P probably damaging Het
Ampd1 A C 3: 102,995,744 (GRCm39) D218A probably benign Het
Arcn1 T C 9: 44,662,651 (GRCm39) N332D probably damaging Het
Arpp21 T A 9: 112,005,191 (GRCm39) I219F probably damaging Het
Bicra A T 7: 15,730,502 (GRCm39) D5E possibly damaging Het
Birc2 A C 9: 7,833,666 (GRCm39) W272G probably damaging Het
Cd2ap A T 17: 43,141,005 (GRCm39) probably benign Het
Celsr1 G A 15: 85,806,436 (GRCm39) R974W probably damaging Het
Col4a2 A C 8: 11,498,167 (GRCm39) T1659P possibly damaging Het
Cped1 A G 6: 22,122,426 (GRCm39) probably benign Het
Elapor2 A T 5: 9,430,282 (GRCm39) D64V probably damaging Het
Gga3 T A 11: 115,482,567 (GRCm39) R105W probably damaging Het
Hmcn1 C T 1: 150,514,620 (GRCm39) R3584Q probably benign Het
Hs6st3 T A 14: 119,376,446 (GRCm39) L207Q probably damaging Het
Ift43 A G 12: 86,208,807 (GRCm39) E141G probably damaging Het
Mrps31 T G 8: 22,917,841 (GRCm39) F287V probably damaging Het
Naca A G 10: 127,877,551 (GRCm39) probably benign Het
Nrf1 C T 6: 30,098,477 (GRCm39) T135M probably damaging Het
Or5p81 A G 7: 108,266,907 (GRCm39) I95V possibly damaging Het
Pfas A T 11: 68,894,640 (GRCm39) Y8* probably null Het
Ppip5k1 G A 2: 121,177,839 (GRCm39) R323W probably damaging Het
Rasal1 A G 5: 120,802,872 (GRCm39) E376G probably damaging Het
Rfc1 A G 5: 65,437,042 (GRCm39) L546P probably benign Het
Rheb A T 5: 25,012,073 (GRCm39) I129N probably damaging Het
Scpep1 A T 11: 88,843,303 (GRCm39) F52I probably damaging Het
Six2 A T 17: 85,995,319 (GRCm39) L21Q probably damaging Het
Slit1 G T 19: 41,590,694 (GRCm39) T1326K possibly damaging Het
Spata2l T C 8: 123,960,716 (GRCm39) D191G possibly damaging Het
Susd4 C A 1: 182,719,552 (GRCm39) A389D probably damaging Het
Tcaf2 A T 6: 42,601,510 (GRCm39) F850I probably damaging Het
Teddm1b T C 1: 153,750,391 (GRCm39) S67P probably damaging Het
Tiparp T A 3: 65,439,530 (GRCm39) V100D probably damaging Het
Zdhhc14 A G 17: 5,803,067 (GRCm39) H390R probably benign Het
Other mutations in Coq9
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00391:Coq9 APN 8 95,577,145 (GRCm39) missense probably damaging 1.00
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 2013-04-17