Incidental Mutation 'IGL02932:Coq3'
ID 364162
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Coq3
Ensembl Gene ENSMUSG00000028247
Gene Name coenzyme Q3 methyltransferase
Synonyms C77934
Accession Numbers
Essential gene? Probably essential (E-score: 0.932) question?
Stock # IGL02932
Quality Score
Status
Chromosome 4
Chromosomal Location 21879673-21912162 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 21900430 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Alanine to Valine at position 219 (A219V)
Ref Sequence ENSEMBL: ENSMUSP00000029909 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029909]
AlphaFold Q8BMS4
Predicted Effect probably benign
Transcript: ENSMUST00000029909
AA Change: A219V

PolyPhen 2 Score 0.368 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000029909
Gene: ENSMUSG00000028247
AA Change: A219V

DomainStartEndE-ValueType
low complexity region 3 15 N/A INTRINSIC
Pfam:Ubie_methyltran 116 278 2.2e-8 PFAM
Pfam:Methyltransf_23 122 305 1.4e-24 PFAM
Pfam:PrmA 143 262 2.4e-7 PFAM
Pfam:CMAS 144 338 3.9e-12 PFAM
Pfam:Methyltransf_31 145 305 4.3e-16 PFAM
Pfam:Methyltransf_18 147 254 8.3e-16 PFAM
Pfam:Methyltransf_25 151 247 5e-10 PFAM
Pfam:Methyltransf_12 152 249 1.2e-15 PFAM
Pfam:Methyltransf_11 152 251 1.6e-21 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000142244
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Ubiquinone, also known as coenzyme Q, or Q, is a critical component of the electron transport pathways of both eukaryotes and prokaryotes (Jonassen and Clarke, 2000 [PubMed 10777520]). This lipid consists of a hydrophobic isoprenoid tail and a quinone head group. The tail varies in length depending on the organism, but its purpose is to anchor coenzyme Q to the membrane. The quinone head group is responsible for the activity of coenzyme Q in the respiratory chain. The S. cerevisiae COQ3 gene encodes an O-methyltransferase required for 2 steps in the biosynthetic pathway of coenzyme Q. This enzyme methylates an early coenzyme Q intermediate, 3,4-dihydroxy-5-polyprenylbenzoic acid, as well as the final intermediate in the pathway, converting demethyl-ubiquinone to coenzyme Q. The COQ3 gene product is also capable of methylating the distinct prokaryotic early intermediate 2-hydroxy-6-polyprenyl phenol.[supplied by OMIM, Mar 2008]
Allele List at MGI
Other mutations in this stock
Total: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Arhgap42 T A 9: 9,115,709 (GRCm39) E122D probably damaging Het
Asb3 G A 11: 30,979,067 (GRCm39) probably null Het
Avl9 T C 6: 56,713,536 (GRCm39) S265P probably benign Het
Cep44 C T 8: 57,000,459 (GRCm39) R18Q probably damaging Het
Clec10a T C 11: 70,060,554 (GRCm39) probably benign Het
Cog4 A G 8: 111,579,065 (GRCm39) I115V probably benign Het
Cry2 G A 2: 92,243,462 (GRCm39) R460* probably null Het
Ddx39b A G 17: 35,472,337 (GRCm39) probably benign Het
Dhx40 G A 11: 86,662,755 (GRCm39) R646C probably damaging Het
Ears2 G A 7: 121,662,284 (GRCm39) R55C probably damaging Het
Eif3m C T 2: 104,845,214 (GRCm39) G26R probably damaging Het
Exo5 A G 4: 120,779,742 (GRCm39) L41P probably benign Het
Fut10 A G 8: 31,749,965 (GRCm39) H417R probably damaging Het
Gars1 T A 6: 55,037,929 (GRCm39) L296Q probably damaging Het
Gpr143 A T X: 151,576,439 (GRCm39) probably benign Het
Htr1b C A 9: 81,513,689 (GRCm39) R306L probably damaging Het
Lama3 G A 18: 12,661,858 (GRCm39) A2185T probably damaging Het
Mbd5 C A 2: 49,169,460 (GRCm39) Q1544K possibly damaging Het
Mccc1 T C 3: 36,014,178 (GRCm39) E713G possibly damaging Het
Mttp A G 3: 137,817,505 (GRCm39) F415S probably benign Het
Mug1 A G 6: 121,864,386 (GRCm39) T1428A probably benign Het
Mup6 A C 4: 60,006,009 (GRCm39) D159A probably damaging Het
Nsd2 T C 5: 34,037,472 (GRCm39) L698P probably damaging Het
Or2w6 A T 13: 21,843,001 (GRCm39) M164K probably damaging Het
Or4p22 G T 2: 88,317,519 (GRCm39) V148F probably benign Het
Or5p70 A G 7: 107,994,720 (GRCm39) N131S probably benign Het
Or6c217 A T 10: 129,738,287 (GRCm39) C97* probably null Het
Osgepl1 G A 1: 53,360,675 (GRCm39) R372H probably benign Het
Pias2 C T 18: 77,232,799 (GRCm39) H537Y probably damaging Het
Slc38a7 A C 8: 96,572,783 (GRCm39) I149M probably damaging Het
Smn1 A G 13: 100,264,472 (GRCm39) T68A probably benign Het
Syde2 A G 3: 145,707,231 (GRCm39) K657R possibly damaging Het
Tdrd5 A T 1: 156,098,190 (GRCm39) H625Q possibly damaging Het
Tead3 T C 17: 28,560,325 (GRCm39) Y2C probably damaging Het
Tmem255a T A X: 37,296,940 (GRCm39) T280S probably benign Het
Ttpa A G 4: 20,021,215 (GRCm39) T128A possibly damaging Het
Wdhd1 A G 14: 47,509,591 (GRCm39) probably null Het
Other mutations in Coq3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02067:Coq3 APN 4 21,900,397 (GRCm39) missense probably benign 0.25
IGL02811:Coq3 APN 4 21,900,273 (GRCm39) missense probably damaging 1.00
IGL03324:Coq3 APN 4 21,900,361 (GRCm39) missense probably benign 0.01
R1484:Coq3 UTSW 4 21,900,291 (GRCm39) missense probably benign 0.01
R1903:Coq3 UTSW 4 21,910,466 (GRCm39) missense probably damaging 0.99
R2129:Coq3 UTSW 4 21,900,342 (GRCm39) missense probably benign 0.00
R3726:Coq3 UTSW 4 21,892,941 (GRCm39) splice site probably benign
R6376:Coq3 UTSW 4 21,900,486 (GRCm39) missense probably benign 0.07
R6627:Coq3 UTSW 4 21,908,607 (GRCm39) missense possibly damaging 0.95
R9015:Coq3 UTSW 4 21,899,107 (GRCm39) missense probably benign 0.08
Z1176:Coq3 UTSW 4 21,899,102 (GRCm39) missense probably damaging 0.98
Posted On 2015-12-18