Incidental Mutation 'IGL00694:Coq2'
| ID |
9852 |
| 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 # |
IGL00694
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
5 |
| Chromosomal Location |
100802589-100822154 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 100803180 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Asparagine
at position 370
(S370N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000031262
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000031262]
[ENSMUST00000126981]
[ENSMUST00000135801]
|
| AlphaFold |
Q66JT7 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000031262
AA Change: S370N
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000031262
Gene: ENSMUSG00000029319
AA Change: S370N
| 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 |
probably benign
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: ENSMUST00000135146
|
| SMART Domains |
Protein: ENSMUSP00000122631
Gene: ENSMUSG00000029319
| 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: 25 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgrl4 |
T |
C |
3: 151,145,033 (GRCm39) |
|
probably benign |
Het |
| Aqr |
A |
T |
2: 113,982,006 (GRCm39) |
D259E |
probably damaging |
Het |
| Arl14ep |
A |
T |
2: 106,797,537 (GRCm39) |
F153L |
probably damaging |
Het |
| Asb15 |
G |
T |
6: 24,570,663 (GRCm39) |
R547L |
possibly damaging |
Het |
| Chd8 |
A |
C |
14: 52,455,427 (GRCm39) |
V1020G |
probably damaging |
Het |
| Crebl2 |
T |
A |
6: 134,826,158 (GRCm39) |
S36R |
probably damaging |
Het |
| Cyp2c29 |
A |
T |
19: 39,310,079 (GRCm39) |
T263S |
possibly damaging |
Het |
| Edem1 |
T |
C |
6: 108,818,562 (GRCm39) |
I190T |
possibly damaging |
Het |
| Fbn2 |
T |
G |
18: 58,170,881 (GRCm39) |
E2170A |
possibly damaging |
Het |
| Gak |
T |
G |
5: 108,761,500 (GRCm39) |
*129C |
probably null |
Het |
| Hc |
T |
C |
2: 34,881,641 (GRCm39) |
I1436V |
probably benign |
Het |
| Kmt2c |
A |
T |
5: 25,498,159 (GRCm39) |
F534I |
probably damaging |
Het |
| Mfhas1 |
G |
A |
8: 36,057,925 (GRCm39) |
R800Q |
probably benign |
Het |
| Npat |
A |
G |
9: 53,474,817 (GRCm39) |
T870A |
probably benign |
Het |
| Pde8a |
T |
C |
7: 80,956,456 (GRCm39) |
V285A |
possibly damaging |
Het |
| Potegl |
A |
T |
2: 23,120,180 (GRCm39) |
Q192L |
probably damaging |
Het |
| Pramel28 |
G |
T |
4: 143,692,392 (GRCm39) |
P203Q |
possibly damaging |
Het |
| Slc25a26 |
T |
A |
6: 94,511,204 (GRCm39) |
I127N |
probably damaging |
Het |
| Spag1 |
A |
T |
15: 36,227,317 (GRCm39) |
E658V |
possibly damaging |
Het |
| St3gal2 |
A |
T |
8: 111,696,213 (GRCm39) |
H266L |
probably damaging |
Het |
| Sult6b2 |
A |
G |
6: 142,736,015 (GRCm39) |
I193T |
possibly damaging |
Het |
| Tas2r120 |
T |
C |
6: 132,634,238 (GRCm39) |
F107L |
probably benign |
Het |
| Thoc1 |
A |
G |
18: 9,989,744 (GRCm39) |
D475G |
possibly damaging |
Het |
| Tpo |
T |
A |
12: 30,155,993 (GRCm39) |
R169S |
probably damaging |
Het |
| Zhx2 |
A |
G |
15: 57,685,156 (GRCm39) |
N175S |
probably benign |
Het |
|
| Other mutations in Coq2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02987:Coq2
|
APN |
5 |
100,811,554 (GRCm39) |
nonsense |
probably null |
|
|
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 |
2012-12-06 |
Incidental Mutation