Incidental Mutation 'IGL02067:Coq3'
ID185704
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: 0.905) question?
Stock #IGL02067
Quality Score
Status
Chromosome4
Chromosomal Location21879673-21912162 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 21900397 bp
ZygosityHeterozygous
Amino Acid Change Glutamic Acid to Glycine at position 208 (E208G)
Ref Sequence ENSEMBL: ENSMUSP00000029909 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029909]
Predicted Effect probably benign
Transcript: ENSMUST00000029909
AA Change: E208G

PolyPhen 2 Score 0.248 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000029909
Gene: ENSMUSG00000028247
AA Change: E208G

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: 27 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700028K03Rik C T 5: 107,543,950 R36* probably null Het
Aplp2 T A 9: 31,150,895 K688N probably damaging Het
Arhgef28 G T 13: 98,077,317 Q13K probably damaging Het
Brd8 C T 18: 34,602,727 S899N probably damaging Het
Chrna6 A G 8: 27,404,396 S494P probably damaging Het
Clcc1 T A 3: 108,668,721 L195H probably damaging Het
Dock4 T G 12: 40,834,385 S1684A probably damaging Het
Duoxa2 G A 2: 122,300,591 V78M possibly damaging Het
Fam189b C T 3: 89,188,596 R545* probably null Het
Fam8a1 G T 13: 46,669,848 R88L possibly damaging Het
Ganc A G 2: 120,406,304 D23G probably benign Het
Gm14305 A T 2: 176,719,317 E53D probably damaging Het
Ing5 T A 1: 93,811,926 L58Q probably damaging Het
Klrb1-ps1 A G 6: 129,129,388 D164G probably damaging Het
Lama2 G A 10: 27,176,796 T1389M probably benign Het
Lrp6 A T 6: 134,480,396 I815K probably damaging Het
Nek10 A G 14: 14,861,639 D565G probably benign Het
Opa1 A G 16: 29,616,655 E641G probably damaging Het
Rbm44 T C 1: 91,152,845 S252P probably damaging Het
Sbf1 A G 15: 89,289,044 V1810A probably damaging Het
Sh3pxd2b T C 11: 32,423,095 V754A probably benign Het
Slc27a6 A G 18: 58,612,191 T566A probably benign Het
Stxbp6 C T 12: 44,861,298 R179Q probably damaging Het
Supt6 T A 11: 78,231,157 Y223F probably benign Het
Tdrd6 T C 17: 43,628,209 I649M probably damaging Het
Tecrl A T 5: 83,284,275 C258S probably benign Het
Zfp128 T C 7: 12,885,050 I74T possibly damaging Het
Other mutations in Coq3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02811:Coq3 APN 4 21900273 missense probably damaging 1.00
IGL02932:Coq3 APN 4 21900430 missense probably benign 0.37
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 On2014-05-07