Incidental Mutation 'R6627:Coq3'
| ID |
524848 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Coq3
|
| Ensembl Gene |
ENSMUSG00000028247 |
| Gene Name |
coenzyme Q3 methyltransferase |
| Synonyms |
C77934 |
| MMRRC Submission |
044749-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.932)
|
| Stock # |
R6627 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
4 |
| Chromosomal Location |
21879673-21912162 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 21908607 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 286
(V286A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000029909
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029909]
|
| AlphaFold |
Q8BMS4 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000029909
AA Change: V286A
PolyPhen 2
Score 0.947 (Sensitivity: 0.79; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000029909
Gene: ENSMUSG00000028247
AA Change: V286A
| 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 |
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.6%
- 20x: 92.1%
|
| 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: 25 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ankrd29 |
T |
C |
18: 12,395,221 (GRCm39) |
N224S |
probably benign |
Het |
| Ccdc162 |
A |
G |
10: 41,539,181 (GRCm39) |
S396P |
probably damaging |
Het |
| Cd9 |
A |
G |
6: 125,439,375 (GRCm39) |
L119P |
possibly damaging |
Het |
| Cdk17 |
A |
C |
10: 93,068,274 (GRCm39) |
T311P |
probably damaging |
Het |
| Cep89 |
A |
G |
7: 35,127,172 (GRCm39) |
D511G |
possibly damaging |
Het |
| Cyp2j13 |
G |
A |
4: 95,947,343 (GRCm39) |
T236I |
probably damaging |
Het |
| Ddx46 |
T |
C |
13: 55,800,748 (GRCm39) |
V301A |
probably benign |
Het |
| Dnah10 |
A |
T |
5: 124,907,097 (GRCm39) |
I4209F |
probably damaging |
Het |
| E2f5 |
G |
A |
3: 14,668,917 (GRCm39) |
E270K |
probably benign |
Het |
| Elp1 |
A |
T |
4: 56,784,647 (GRCm39) |
|
probably null |
Het |
| Esp24 |
C |
T |
17: 39,350,952 (GRCm39) |
Q51* |
probably null |
Het |
| Fam168b |
C |
A |
1: 34,875,822 (GRCm39) |
G21V |
probably damaging |
Het |
| Fasn |
G |
T |
11: 120,709,753 (GRCm39) |
Q435K |
probably benign |
Het |
| Gpr17 |
T |
C |
18: 32,080,949 (GRCm39) |
Y38C |
probably damaging |
Het |
| Lfng |
T |
C |
5: 140,593,523 (GRCm39) |
V118A |
probably damaging |
Het |
| Maco1 |
A |
G |
4: 134,563,654 (GRCm39) |
V110A |
probably damaging |
Het |
| Muc5ac |
T |
C |
7: 141,362,427 (GRCm39) |
|
probably benign |
Het |
| Myh1 |
T |
G |
11: 67,105,835 (GRCm39) |
L1150R |
probably damaging |
Het |
| Plod3 |
T |
G |
5: 137,017,310 (GRCm39) |
I111S |
probably damaging |
Het |
| Sh2d4a |
T |
A |
8: 68,746,970 (GRCm39) |
V66D |
probably damaging |
Het |
| Simc1 |
T |
G |
13: 54,694,887 (GRCm39) |
L323V |
probably damaging |
Het |
| Thnsl2 |
A |
G |
6: 71,111,199 (GRCm39) |
I223T |
possibly damaging |
Het |
| Tmem203 |
T |
C |
2: 25,145,785 (GRCm39) |
|
probably null |
Het |
| Tmppe |
A |
G |
9: 114,234,553 (GRCm39) |
D284G |
probably damaging |
Het |
| Ube2s |
C |
T |
7: 4,813,581 (GRCm39) |
R61H |
possibly damaging |
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 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- GCGTTGATACTTCACGTCCAC -3'
(R):5'- TGGAATCCACCCTGACATAGTTAAG -3'
Sequencing Primer
(F):5'- ACGTCCACTGTTTTACATGTGTATAC -3'
(R):5'- CCACCTGTAATGGGATCAGATGTC -3'
|
| Posted On |
2018-06-22 |
Incidental Mutation