Incidental Mutation 'R1144:Coq9'
ID 102284
Institutional Source Beutler Lab
Gene Symbol Coq9
Ensembl Gene ENSMUSG00000031782
Gene Name coenzyme Q9
Synonyms 2310005O14Rik
MMRRC Submission 039217-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.202) question?
Stock # R1144 (G1)
Quality Score 225
Status Validated
Chromosome 8
Chromosomal Location 95565041-95581523 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 95569251 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Serine at position 28 (R28S)
Ref Sequence ENSEMBL: ENSMUSP00000124695 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034233] [ENSMUST00000034234] [ENSMUST00000159871] [ENSMUST00000162538]
AlphaFold Q8K1Z0
Predicted Effect probably benign
Transcript: ENSMUST00000034233
SMART Domains Protein: ENSMUSP00000034233
Gene: ENSMUSG00000031781

DomainStartEndE-ValueType
Pfam:Methyltransf_11 18 95 4.7e-6 PFAM
Pfam:CIAPIN1 228 270 8e-8 PFAM
Pfam:CIAPIN1 262 301 3.3e-19 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000034234
AA Change: R28S

PolyPhen 2 Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)
SMART Domains Protein: ENSMUSP00000034234
Gene: ENSMUSG00000031782
AA Change: R28S

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: ENSMUST00000159377
Predicted Effect noncoding transcript
Transcript: ENSMUST00000159424
Predicted Effect noncoding transcript
Transcript: ENSMUST00000159638
Predicted Effect probably benign
Transcript: ENSMUST00000159871
AA Change: R28S

PolyPhen 2 Score 0.030 (Sensitivity: 0.95; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000124695
Gene: ENSMUSG00000031782
AA Change: R28S

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: ENSMUST00000162589
Predicted Effect noncoding transcript
Transcript: ENSMUST00000160998
Predicted Effect probably benign
Transcript: ENSMUST00000162538
SMART Domains Protein: ENSMUSP00000125451
Gene: ENSMUSG00000031781

DomainStartEndE-ValueType
Pfam:Methyltransf_11 18 95 4.7e-6 PFAM
Pfam:CIAPIN1 228 270 8e-8 PFAM
Pfam:CIAPIN1 262 301 3.3e-19 PFAM
Meta Mutation Damage Score 0.1388 question?
Coding Region Coverage
  • 1x: 99.0%
  • 3x: 98.2%
  • 10x: 95.9%
  • 20x: 91.2%
Validation Efficiency 100% (64/64)
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: 62 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca15 C T 7: 119,960,083 (GRCm39) probably benign Het
Abcc5 A T 16: 20,241,188 (GRCm39) probably benign Het
Acsl5 A C 19: 55,280,275 (GRCm39) D516A probably damaging Het
Adcy1 G A 11: 7,087,400 (GRCm39) A425T probably damaging Het
Aebp1 A G 11: 5,818,475 (GRCm39) T107A probably benign Het
Arhgef33 T C 17: 80,662,473 (GRCm39) S219P probably benign Het
Atm T G 9: 53,422,998 (GRCm39) probably benign Het
C1ql2 A C 1: 120,270,266 (GRCm39) Y276S probably damaging Het
Cacna2d1 T C 5: 16,527,595 (GRCm39) probably null Het
Cmbl A G 15: 31,582,020 (GRCm39) N6D probably benign Het
Cntn3 A G 6: 102,219,087 (GRCm39) V511A possibly damaging Het
Creld1 T C 6: 113,460,922 (GRCm39) F20S probably benign Het
Dcstamp A G 15: 39,623,764 (GRCm39) K404E possibly damaging Het
Dip2b T A 15: 100,052,131 (GRCm39) I244K probably benign Het
Dnhd1 G A 7: 105,362,238 (GRCm39) E3700K probably damaging Het
Dnmt3l T A 10: 77,887,739 (GRCm39) C110S probably damaging Het
Fabp3 C T 4: 130,206,180 (GRCm39) T57I probably benign Het
Fgfr1 T G 8: 26,048,159 (GRCm39) V172G probably damaging Het
Frem3 C A 8: 81,338,513 (GRCm39) Q269K probably benign Het
Frmd6 C A 12: 70,923,942 (GRCm39) H67N probably damaging Het
Fry A G 5: 150,341,929 (GRCm39) T1532A possibly damaging Het
Git2 G T 5: 114,891,375 (GRCm39) S243R probably benign Het
Grid1 A G 14: 35,284,633 (GRCm39) probably benign Het
Grp A G 18: 66,013,041 (GRCm39) D69G probably damaging Het
Hmbox1 A T 14: 65,063,132 (GRCm39) L347Q probably damaging Het
Hsh2d C T 8: 72,947,436 (GRCm39) probably benign Het
Itpr3 G A 17: 27,333,897 (GRCm39) S2018N probably benign Het
Kif13b T A 14: 64,951,566 (GRCm39) V69D probably benign Het
Kirrel1 C T 3: 86,996,458 (GRCm39) M380I probably null Het
Lmcd1 T A 6: 112,287,712 (GRCm39) probably benign Het
Megf9 C A 4: 70,452,861 (GRCm39) A67S probably benign Het
Myo5b G A 18: 74,758,658 (GRCm39) R213H probably damaging Het
Myo5c T A 9: 75,193,730 (GRCm39) Y1162N probably damaging Het
Nphs1 A G 7: 30,181,103 (GRCm39) probably benign Het
Ntrk1 G A 3: 87,688,849 (GRCm39) T568I probably damaging Het
Pcmtd1 A G 1: 7,190,705 (GRCm39) H58R probably damaging Het
Plaat5 A G 19: 7,590,695 (GRCm39) D74G probably benign Het
Plxna4 A T 6: 32,174,091 (GRCm39) I1168N possibly damaging Het
Ppm1h A G 10: 122,777,183 (GRCm39) D483G probably benign Het
Prdm15 G A 16: 97,609,908 (GRCm39) R579C probably damaging Het
Prickle1 T A 15: 93,410,342 (GRCm39) R41W probably damaging Het
Rbm19 A G 5: 120,261,081 (GRCm39) D235G possibly damaging Het
Smco2 A G 6: 146,772,638 (GRCm39) probably benign Het
Sned1 G C 1: 93,208,298 (GRCm39) G785R probably damaging Het
Stat4 A G 1: 52,123,288 (GRCm39) probably benign Het
Syne2 T A 12: 76,013,298 (GRCm39) F2830I probably benign Het
Tbc1d9 A G 8: 83,963,200 (GRCm39) D304G possibly damaging Het
Thsd7a G A 6: 12,471,026 (GRCm39) probably benign Het
Tmem63b T A 17: 45,977,353 (GRCm39) K383N probably benign Het
Trp53rka C A 2: 165,334,961 (GRCm39) probably benign Het
Trub1 G A 19: 57,473,563 (GRCm39) V207M probably benign Het
Ulk2 A T 11: 61,690,886 (GRCm39) C551S possibly damaging Het
Urb1 A T 16: 90,573,206 (GRCm39) probably null Het
Vmn1r219 C A 13: 23,347,383 (GRCm39) Q191K probably damaging Het
Vmn2r1 A T 3: 63,997,541 (GRCm39) D399V probably damaging Het
Vmn2r87 A G 10: 130,312,098 (GRCm39) probably benign Het
Wars1 A T 12: 108,854,291 (GRCm39) L41* probably null Het
Washc2 G A 6: 116,201,495 (GRCm39) E64K probably damaging Het
Washc4 G A 10: 83,416,194 (GRCm39) R828Q probably damaging Het
Wdr59 A T 8: 112,213,576 (GRCm39) M313K probably benign Het
Wscd2 G A 5: 113,699,151 (GRCm39) probably null Het
Zdhhc20 A C 14: 58,094,135 (GRCm39) L176V probably benign Het
Other mutations in Coq9
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00391:Coq9 APN 8 95,577,145 (GRCm39) missense probably damaging 1.00
IGL00909:Coq9 APN 8 95,578,530 (GRCm39) missense possibly damaging 0.94
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
Predicted Primers
Posted On 2014-01-15