Incidental Mutation 'IGL02987:Coq2'
ID |
406766 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Coq2
|
Ensembl Gene |
ENSMUSG00000029319 |
Gene Name |
coenzyme Q2 4-hydroxybenzoate polyprenyltransferase |
Synonyms |
2310002F18Rik |
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
IGL02987
|
Quality Score |
|
Status
|
|
Chromosome |
5 |
Chromosomal Location |
100802589-100822154 bp(-) (GRCm39) |
Type of Mutation |
nonsense |
DNA Base Change (assembly) |
G to A
at 100811554 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamine to Stop codon
at position 103
(Q103*)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000031262]
[ENSMUST00000126981]
[ENSMUST00000127811]
[ENSMUST00000135801]
|
AlphaFold |
Q66JT7 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000031262
AA Change: A145V
PolyPhen 2
Score 0.816 (Sensitivity: 0.84; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000031262 Gene: ENSMUSG00000029319 AA Change: A145V
Domain | Start | End | E-Value | Type |
low complexity region
|
2 |
15 |
N/A |
INTRINSIC |
low complexity region
|
55 |
67 |
N/A |
INTRINSIC |
Pfam:UbiA
|
89 |
348 |
2.1e-52 |
PFAM |
low complexity region
|
354 |
365 |
N/A |
INTRINSIC |
|
Predicted Effect |
silent
Transcript: ENSMUST00000126981
|
SMART Domains |
Protein: ENSMUSP00000122296 Gene: ENSMUSG00000029319
Domain | Start | End | E-Value | Type |
low complexity region
|
2 |
15 |
N/A |
INTRINSIC |
low complexity region
|
55 |
67 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000127811
|
Predicted Effect |
probably null
Transcript: ENSMUST00000135146
AA Change: Q103*
|
SMART Domains |
Protein: ENSMUSP00000122631 Gene: ENSMUSG00000029319 AA Change: Q103*
Domain | Start | End | E-Value | Type |
low complexity region
|
27 |
39 |
N/A |
INTRINSIC |
low complexity region
|
115 |
121 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000135801
|
SMART Domains |
Protein: ENSMUSP00000119410 Gene: ENSMUSG00000029319
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
39 |
N/A |
INTRINSIC |
transmembrane domain
|
47 |
69 |
N/A |
INTRINSIC |
|
Coding Region Coverage |
|
Validation Efficiency |
|
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes an enzyme that functions in the final steps in the biosynthesis of CoQ (ubiquinone), a redox carrier in the mitochondrial respiratory chain and a lipid-soluble antioxidant. This enzyme, which is part of the coenzyme Q10 pathway, catalyzes the prenylation of parahydroxybenzoate with an all-trans polyprenyl group. Mutations in this gene cause coenzyme Q10 deficiency, a mitochondrial encephalomyopathy, and also COQ2 nephropathy, an inherited form of mitochondriopathy with primary renal involvement. [provided by RefSeq, Oct 2009]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 35 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Akr1e1 |
T |
C |
13: 4,643,591 (GRCm39) |
D222G |
probably damaging |
Het |
Apbb1ip |
T |
A |
2: 22,757,649 (GRCm39) |
Y422* |
probably null |
Het |
Asf1a |
T |
C |
10: 53,473,367 (GRCm39) |
F28L |
probably damaging |
Het |
Atp6v1c1 |
T |
A |
15: 38,690,806 (GRCm39) |
M319K |
possibly damaging |
Het |
Bsn |
A |
G |
9: 108,003,503 (GRCm39) |
S301P |
probably benign |
Het |
Cds1 |
A |
G |
5: 101,960,391 (GRCm39) |
I281V |
possibly damaging |
Het |
Col4a4 |
T |
C |
1: 82,476,646 (GRCm39) |
|
probably benign |
Het |
Dgkh |
A |
G |
14: 78,827,312 (GRCm39) |
|
probably null |
Het |
Dnah9 |
A |
G |
11: 65,746,098 (GRCm39) |
I4005T |
probably damaging |
Het |
Dnah9 |
C |
A |
11: 65,732,099 (GRCm39) |
R4269L |
probably benign |
Het |
F2rl1 |
T |
A |
13: 95,650,741 (GRCm39) |
Q47L |
probably benign |
Het |
Fhod3 |
T |
C |
18: 25,246,610 (GRCm39) |
V1272A |
possibly damaging |
Het |
Gdpd4 |
T |
C |
7: 97,610,758 (GRCm39) |
|
probably benign |
Het |
Gfral |
A |
G |
9: 76,104,583 (GRCm39) |
V143A |
possibly damaging |
Het |
Gltp |
A |
C |
5: 114,812,243 (GRCm39) |
F88V |
probably benign |
Het |
Hectd1 |
T |
G |
12: 51,791,550 (GRCm39) |
K2565T |
probably damaging |
Het |
Jade2 |
A |
G |
11: 51,721,308 (GRCm39) |
S207P |
probably damaging |
Het |
Khdc3 |
A |
G |
9: 73,009,948 (GRCm39) |
I53V |
possibly damaging |
Het |
Lce1a1 |
T |
C |
3: 92,554,409 (GRCm39) |
T22A |
unknown |
Het |
Lgals9 |
A |
T |
11: 78,858,303 (GRCm39) |
H196Q |
possibly damaging |
Het |
Lrrc37a |
A |
T |
11: 103,391,239 (GRCm39) |
N1395K |
probably benign |
Het |
Mast1 |
C |
T |
8: 85,652,348 (GRCm39) |
V268I |
possibly damaging |
Het |
Myh11 |
T |
G |
16: 14,050,396 (GRCm39) |
E523A |
probably damaging |
Het |
Napb |
T |
C |
2: 148,539,431 (GRCm39) |
|
probably null |
Het |
Nlrp4e |
G |
A |
7: 23,000,858 (GRCm39) |
R51H |
probably damaging |
Het |
Ola1 |
T |
C |
2: 72,987,242 (GRCm39) |
D130G |
probably benign |
Het |
Or8c13 |
A |
T |
9: 38,091,919 (GRCm39) |
S67T |
possibly damaging |
Het |
Pard3 |
G |
A |
8: 128,115,972 (GRCm39) |
C687Y |
probably damaging |
Het |
Rassf9 |
A |
G |
10: 102,381,109 (GRCm39) |
T164A |
possibly damaging |
Het |
Sema3a |
A |
G |
5: 13,615,863 (GRCm39) |
Y429C |
probably damaging |
Het |
Slc25a54 |
T |
C |
3: 109,023,653 (GRCm39) |
V416A |
probably benign |
Het |
Slc30a5 |
T |
C |
13: 100,940,423 (GRCm39) |
T631A |
probably damaging |
Het |
Sorl1 |
A |
T |
9: 41,952,349 (GRCm39) |
C736S |
probably damaging |
Het |
Tet3 |
A |
T |
6: 83,345,074 (GRCm39) |
S1788T |
probably damaging |
Het |
Trim42 |
A |
G |
9: 97,247,868 (GRCm39) |
V276A |
probably benign |
Het |
|
Other mutations in Coq2 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00694:Coq2
|
APN |
5 |
100,803,180 (GRCm39) |
missense |
probably benign |
0.00 |
R0051:Coq2
|
UTSW |
5 |
100,811,551 (GRCm39) |
missense |
probably benign |
0.00 |
R0051:Coq2
|
UTSW |
5 |
100,811,551 (GRCm39) |
missense |
probably benign |
0.00 |
R0538:Coq2
|
UTSW |
5 |
100,815,889 (GRCm39) |
missense |
possibly damaging |
0.89 |
R1056:Coq2
|
UTSW |
5 |
100,805,813 (GRCm39) |
missense |
probably benign |
0.01 |
R1934:Coq2
|
UTSW |
5 |
100,809,731 (GRCm39) |
missense |
probably damaging |
1.00 |
R4788:Coq2
|
UTSW |
5 |
100,805,775 (GRCm39) |
missense |
probably damaging |
0.96 |
R5071:Coq2
|
UTSW |
5 |
100,815,816 (GRCm39) |
missense |
probably damaging |
1.00 |
R5221:Coq2
|
UTSW |
5 |
100,805,698 (GRCm39) |
missense |
possibly damaging |
0.83 |
R5232:Coq2
|
UTSW |
5 |
100,805,698 (GRCm39) |
missense |
possibly damaging |
0.83 |
R5233:Coq2
|
UTSW |
5 |
100,805,698 (GRCm39) |
missense |
possibly damaging |
0.83 |
R6301:Coq2
|
UTSW |
5 |
100,809,729 (GRCm39) |
missense |
possibly damaging |
0.90 |
R6450:Coq2
|
UTSW |
5 |
100,809,770 (GRCm39) |
utr 3 prime |
probably benign |
|
R7096:Coq2
|
UTSW |
5 |
100,811,586 (GRCm39) |
utr 5 prime |
probably benign |
|
R7265:Coq2
|
UTSW |
5 |
100,808,136 (GRCm39) |
missense |
possibly damaging |
0.89 |
R7453:Coq2
|
UTSW |
5 |
100,811,452 (GRCm39) |
missense |
probably benign |
0.01 |
R7530:Coq2
|
UTSW |
5 |
100,822,008 (GRCm39) |
missense |
probably benign |
|
R7645:Coq2
|
UTSW |
5 |
100,808,116 (GRCm39) |
missense |
probably damaging |
1.00 |
R7920:Coq2
|
UTSW |
5 |
100,811,741 (GRCm39) |
start gained |
probably benign |
|
R8903:Coq2
|
UTSW |
5 |
100,811,656 (GRCm39) |
utr 5 prime |
probably benign |
|
|
Posted On |
2016-08-02 |