Incidental Mutation 'IGL02932:Coq3'
ID364162
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Coq3
Ensembl Gene ENSMUSG00000028247
Gene Namecoenzyme Q3 methyltransferase
SynonymsC77934
Accession Numbers
Is this an essential gene? Probably essential (E-score: 0.929) question?
Stock #IGL02932
Quality Score
Status
Chromosome4
Chromosomal Location21879673-21912162 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to T at 21900430 bp
ZygosityHeterozygous
Amino Acid Change Alanine to Valine at position 219 (A219V)
Ref Sequence ENSEMBL: ENSMUSP00000029909 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029909]
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: 9,115,708 E122D probably damaging Het
Asb3 G A 11: 31,029,067 probably null Het
Avl9 T C 6: 56,736,551 S265P probably benign Het
Cep44 C T 8: 56,547,424 R18Q probably damaging Het
Clec10a T C 11: 70,169,728 probably benign Het
Cog4 A G 8: 110,852,433 I115V probably benign Het
Cry2 G A 2: 92,413,117 R460* probably null Het
Ddx39b A G 17: 35,253,361 probably benign Het
Dhx40 G A 11: 86,771,929 R646C probably damaging Het
Ears2 G A 7: 122,063,061 R55C probably damaging Het
Eif3m C T 2: 105,014,869 G26R probably damaging Het
Exo5 A G 4: 120,922,545 L41P probably benign Het
Fut10 A G 8: 31,259,937 H417R probably damaging Het
Gars T A 6: 55,060,944 L296Q probably damaging Het
Gpr143 A T X: 152,793,443 probably benign Het
Htr1b C A 9: 81,631,636 R306L probably damaging Het
Lama3 G A 18: 12,528,801 A2185T probably damaging Het
Mbd5 C A 2: 49,279,448 Q1544K possibly damaging Het
Mccc1 T C 3: 35,960,029 E713G possibly damaging Het
Mttp A G 3: 138,111,744 F415S probably benign Het
Mug1 A G 6: 121,887,427 T1428A probably benign Het
Mup6 A C 4: 60,006,009 D159A probably damaging Het
Nsd2 T C 5: 33,880,128 L698P probably damaging Het
Olfr1184 G T 2: 88,487,175 V148F probably benign Het
Olfr1361 A T 13: 21,658,831 M164K probably damaging Het
Olfr495 A G 7: 108,395,513 N131S probably benign Het
Olfr815 A T 10: 129,902,418 C97* probably null Het
Osgepl1 G A 1: 53,321,516 R372H probably benign Het
Pias2 C T 18: 77,145,103 H537Y probably damaging Het
Slc38a7 A C 8: 95,846,155 I149M probably damaging Het
Smn1 A G 13: 100,127,964 T68A probably benign Het
Syde2 A G 3: 146,001,476 K657R possibly damaging Het
Tdrd5 A T 1: 156,270,620 H625Q possibly damaging Het
Tead3 T C 17: 28,341,351 Y2C probably damaging Het
Tmem255a T A X: 38,208,063 T280S probably benign Het
Ttpa A G 4: 20,021,215 T128A possibly damaging Het
Wdhd1 A G 14: 47,272,134 probably null Het
Other mutations in Coq3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02067:Coq3 APN 4 21900397 missense probably benign 0.25
IGL02811:Coq3 APN 4 21900273 missense probably damaging 1.00
IGL03324:Coq3 APN 4 21900361 missense probably benign 0.01
R1484:Coq3 UTSW 4 21900291 missense probably benign 0.01
R1903:Coq3 UTSW 4 21910466 missense probably damaging 0.99
R2129:Coq3 UTSW 4 21900342 missense probably benign 0.00
R3726:Coq3 UTSW 4 21892941 splice site probably benign
R6376:Coq3 UTSW 4 21900486 missense probably benign 0.07
R6627:Coq3 UTSW 4 21908607 missense possibly damaging 0.95
Z1176:Coq3 UTSW 4 21899102 missense probably damaging 0.98
Posted On2015-12-18