Incidental Mutation 'IGL03324:Coq3'
| ID |
416584 |
| 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)
|
| Stock # |
IGL03324
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
4 |
| Chromosomal Location |
21879673-21912162 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 21900361 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 196
(D196G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000029909
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029909]
|
| AlphaFold |
Q8BMS4 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000029909
AA Change: D196G
PolyPhen 2
Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)
|
| SMART Domains |
Protein: ENSMUSP00000029909
Gene: ENSMUSG00000028247
AA Change: D196G
| Domain | Start | End | E-Value | Type |
|---|
|
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: 30 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700018F24Rik |
A |
G |
5: 144,982,261 (GRCm39) |
E282G |
probably benign |
Het |
| Abca12 |
T |
A |
1: 71,353,167 (GRCm39) |
K758N |
probably benign |
Het |
| Acacb |
A |
T |
5: 114,363,915 (GRCm39) |
R1459* |
probably null |
Het |
| Aco1 |
A |
G |
4: 40,186,363 (GRCm39) |
T592A |
probably benign |
Het |
| Aldh2 |
C |
T |
5: 121,713,188 (GRCm39) |
G256D |
probably benign |
Het |
| Apbb2 |
A |
T |
5: 66,469,500 (GRCm39) |
|
probably null |
Het |
| Apoe |
A |
T |
7: 19,430,462 (GRCm39) |
I260K |
probably benign |
Het |
| Cep89 |
G |
A |
7: 35,124,078 (GRCm39) |
|
probably benign |
Het |
| Crispld2 |
C |
T |
8: 120,742,110 (GRCm39) |
R153W |
probably damaging |
Het |
| Enox1 |
A |
G |
14: 77,852,925 (GRCm39) |
E397G |
probably damaging |
Het |
| Gpatch1 |
A |
G |
7: 34,998,705 (GRCm39) |
Y342H |
probably damaging |
Het |
| Gpatch1 |
T |
A |
7: 34,993,120 (GRCm39) |
E575V |
possibly damaging |
Het |
| Grid2 |
T |
C |
6: 64,406,806 (GRCm39) |
V722A |
possibly damaging |
Het |
| Hsh2d |
T |
C |
8: 72,947,356 (GRCm39) |
F18L |
probably damaging |
Het |
| Htra2 |
C |
T |
6: 83,030,737 (GRCm39) |
D190N |
probably damaging |
Het |
| Lrfn2 |
A |
G |
17: 49,377,915 (GRCm39) |
N332S |
probably damaging |
Het |
| Naa10 |
C |
T |
X: 72,963,568 (GRCm39) |
|
probably null |
Het |
| Nlrp4f |
T |
C |
13: 65,343,042 (GRCm39) |
E179G |
possibly damaging |
Het |
| Or13p10 |
T |
A |
4: 118,523,069 (GRCm39) |
F118L |
probably benign |
Het |
| Or14j1 |
G |
A |
17: 38,146,165 (GRCm39) |
G92S |
probably benign |
Het |
| Or4c111 |
A |
T |
2: 88,843,903 (GRCm39) |
C168* |
probably null |
Het |
| Prss46 |
T |
A |
9: 110,678,747 (GRCm39) |
N46K |
probably benign |
Het |
| Rep15 |
A |
C |
6: 146,934,163 (GRCm39) |
M1L |
possibly damaging |
Het |
| Slc10a4 |
G |
T |
5: 73,169,286 (GRCm39) |
A105S |
probably damaging |
Het |
| Slc26a9 |
A |
T |
1: 131,691,748 (GRCm39) |
T664S |
probably damaging |
Het |
| Stxbp3-ps |
A |
T |
19: 9,535,714 (GRCm39) |
|
noncoding transcript |
Het |
| Tmf1 |
C |
A |
6: 97,140,614 (GRCm39) |
R754L |
probably damaging |
Het |
| Xcr1 |
T |
A |
9: 123,685,549 (GRCm39) |
Y71F |
probably benign |
Het |
| Yars1 |
C |
T |
4: 129,104,328 (GRCm39) |
T324I |
probably benign |
Het |
| Zfp106 |
A |
G |
2: 120,365,868 (GRCm39) |
S180P |
probably benign |
Het |
|
| Other mutations in Coq3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH 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 |
|
IGL02932:Coq3
|
APN |
4 |
21,900,430 (GRCm39) |
missense |
probably benign |
0.37 |
|
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 |
2016-08-02 |
Incidental Mutation