Incidental Mutation 'R6608:Coq6'
| ID |
526429 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Coq6
|
| Ensembl Gene |
ENSMUSG00000021235 |
| Gene Name |
coenzyme Q6 monooxygenase |
| Synonyms |
5930427M12Rik |
| MMRRC Submission |
044731-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R6608 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
12 |
| Chromosomal Location |
84408530-84420570 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 84418922 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Isoleucine
at position 309
(V309I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000105907
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000021661]
[ENSMUST00000021662]
[ENSMUST00000072061]
[ENSMUST00000110272]
[ENSMUST00000110276]
[ENSMUST00000110278]
[ENSMUST00000117286]
[ENSMUST00000152913]
[ENSMUST00000120942]
[ENSMUST00000122194]
|
| AlphaFold |
Q8R1S0 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000021661
AA Change: V309I
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000021661
Gene: ENSMUSG00000021235
AA Change: V309I
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
20 |
N/A |
INTRINSIC |
|
low complexity region
|
46 |
56 |
N/A |
INTRINSIC |
|
Pfam:FAD_binding_3
|
195 |
328 |
3.9e-8 |
PFAM |
|
Pfam:FAD_binding_3
|
334 |
435 |
1.3e-11 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000021662
|
| SMART Domains |
Protein: ENSMUSP00000021662
Gene: ENSMUSG00000021236
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
18 |
N/A |
INTRINSIC |
|
Pfam:GDA1_CD39
|
41 |
426 |
3.5e-76 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000072061
|
| SMART Domains |
Protein: ENSMUSP00000071939
Gene: ENSMUSG00000021236
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
27 |
46 |
N/A |
INTRINSIC |
|
Pfam:GDA1_CD39
|
65 |
451 |
1.9e-77 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000110272
|
| SMART Domains |
Protein: ENSMUSP00000105901
Gene: ENSMUSG00000021236
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
18 |
N/A |
INTRINSIC |
|
Pfam:GDA1_CD39
|
41 |
426 |
3.5e-76 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000110276
AA Change: V309I
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000105905
Gene: ENSMUSG00000021235
AA Change: V309I
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
20 |
N/A |
INTRINSIC |
|
low complexity region
|
46 |
56 |
N/A |
INTRINSIC |
|
Pfam:FAD_binding_3
|
195 |
328 |
5.1e-8 |
PFAM |
|
Pfam:FAD_binding_3
|
334 |
435 |
1.7e-11 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000110278
AA Change: V309I
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000105907
Gene: ENSMUSG00000021235
AA Change: V309I
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
20 |
N/A |
INTRINSIC |
|
low complexity region
|
46 |
56 |
N/A |
INTRINSIC |
|
Pfam:FAD_binding_3
|
195 |
328 |
6.8e-8 |
PFAM |
|
Pfam:FAD_binding_3
|
334 |
410 |
1.1e-9 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000117286
|
| SMART Domains |
Protein: ENSMUSP00000114011
Gene: ENSMUSG00000021236
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
18 |
N/A |
INTRINSIC |
|
Pfam:GDA1_CD39
|
41 |
426 |
3.5e-76 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000124257
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000150391
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000126913
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000152913
|
| SMART Domains |
Protein: ENSMUSP00000115676
Gene: ENSMUSG00000021235
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
20 |
N/A |
INTRINSIC |
|
SCOP:d1foha5
|
39 |
269 |
1e-10 |
SMART |
|
PDB:4K22|B
|
94 |
274 |
1e-20 |
PDB |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000140961
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000156592
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000145522
|
| SMART Domains |
Protein: ENSMUSP00000117609
Gene: ENSMUSG00000021235
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
19 |
N/A |
INTRINSIC |
|
SCOP:d1foha5
|
35 |
167 |
2e-6 |
SMART |
|
PDB:4K22|B
|
90 |
156 |
3e-8 |
PDB |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000120942
|
| SMART Domains |
Protein: ENSMUSP00000112516
Gene: ENSMUSG00000021236
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
18 |
N/A |
INTRINSIC |
|
Pfam:GDA1_CD39
|
41 |
426 |
3.5e-76 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000122194
|
| SMART Domains |
Protein: ENSMUSP00000113106
Gene: ENSMUSG00000021236
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
18 |
N/A |
INTRINSIC |
|
Pfam:GDA1_CD39
|
41 |
426 |
3.5e-76 |
PFAM |
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.1%
- 20x: 94.2%
|
| Validation Efficiency |
98% (43/44) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene belongs to the ubiH/COQ6 family. It is an evolutionarily conserved monooxygenase required for the biosynthesis of coenzyme Q10 (or ubiquinone), which is an essential component of the mitochondrial electron transport chain, and one of the most potent lipophilic antioxidants implicated in the protection of cell damage by reactive oxygen species. Knockdown of this gene in mouse and zebrafish results in decreased growth due to increased apoptosis. Mutations in this gene are associated with autosomal recessive coenzyme Q10 deficiency-6 (COQ10D6), which manifests as nephrotic syndrome with sensorineural deafness. Alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Jun 2012]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 43 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acad10 |
T |
C |
5: 121,770,555 (GRCm39) |
T571A |
probably benign |
Het |
| Adamts18 |
A |
T |
8: 114,501,911 (GRCm39) |
Y317N |
probably damaging |
Het |
| Adgrg5 |
T |
C |
8: 95,668,348 (GRCm39) |
F470S |
probably damaging |
Het |
| AK157302 |
T |
C |
13: 21,679,794 (GRCm39) |
S107P |
probably damaging |
Het |
| Ankrd31 |
A |
G |
13: 96,969,288 (GRCm39) |
Y975C |
probably damaging |
Het |
| Ankrd37 |
C |
T |
8: 46,452,891 (GRCm39) |
|
probably benign |
Het |
| Aox1 |
T |
C |
1: 58,096,705 (GRCm39) |
Y267H |
probably benign |
Het |
| Cdan1 |
A |
C |
2: 120,557,161 (GRCm39) |
I555R |
possibly damaging |
Het |
| Clns1a |
A |
G |
7: 97,365,675 (GRCm39) |
T226A |
probably benign |
Het |
| Col18a1 |
C |
T |
10: 76,948,628 (GRCm39) |
|
probably benign |
Het |
| Col5a3 |
C |
A |
9: 20,685,315 (GRCm39) |
V1454L |
unknown |
Het |
| Decr2 |
C |
T |
17: 26,302,858 (GRCm39) |
V173M |
probably benign |
Het |
| Dmgdh |
G |
A |
13: 93,843,252 (GRCm39) |
G363S |
possibly damaging |
Het |
| Dnah7a |
A |
T |
1: 53,564,277 (GRCm39) |
D1927E |
probably benign |
Het |
| Dnah8 |
G |
A |
17: 30,967,542 (GRCm39) |
D2585N |
probably benign |
Het |
| Epm2a |
T |
C |
10: 11,266,731 (GRCm39) |
|
probably null |
Het |
| Gm1979 |
T |
A |
5: 26,206,094 (GRCm39) |
H162L |
probably benign |
Het |
| Irag1 |
A |
T |
7: 110,487,758 (GRCm39) |
S486T |
probably damaging |
Het |
| Knl1 |
A |
G |
2: 118,917,093 (GRCm39) |
N1759D |
probably damaging |
Het |
| Man1b1 |
T |
A |
2: 25,233,263 (GRCm39) |
V212E |
probably damaging |
Het |
| Marf1 |
A |
G |
16: 13,950,578 (GRCm39) |
L936S |
probably damaging |
Het |
| Mki67 |
G |
A |
7: 135,300,090 (GRCm39) |
T1648I |
probably benign |
Het |
| Or2n1c |
T |
C |
17: 38,519,370 (GRCm39) |
V78A |
probably damaging |
Het |
| Or3a1b |
T |
C |
11: 74,012,454 (GRCm39) |
V113A |
probably benign |
Het |
| Or5d40 |
A |
G |
2: 88,016,049 (GRCm39) |
Y276C |
possibly damaging |
Het |
| Or6n2 |
A |
G |
1: 173,897,295 (GRCm39) |
M144V |
probably benign |
Het |
| Parp11 |
A |
G |
6: 127,454,811 (GRCm39) |
I110V |
possibly damaging |
Het |
| Pcdhb5 |
A |
G |
18: 37,454,876 (GRCm39) |
T419A |
probably damaging |
Het |
| Pitpnm1 |
A |
G |
19: 4,160,875 (GRCm39) |
D838G |
probably damaging |
Het |
| Rbm26 |
T |
A |
14: 105,389,934 (GRCm39) |
N230I |
probably damaging |
Het |
| Rnf20 |
C |
T |
4: 49,650,051 (GRCm39) |
S540F |
probably benign |
Het |
| Rsad1 |
T |
C |
11: 94,433,435 (GRCm39) |
D417G |
probably damaging |
Het |
| Serpina3c |
A |
T |
12: 104,115,883 (GRCm39) |
N220K |
probably benign |
Het |
| Slc6a19 |
A |
G |
13: 73,832,091 (GRCm39) |
L495P |
probably damaging |
Het |
| Stard7 |
A |
T |
2: 127,132,715 (GRCm39) |
K194N |
probably damaging |
Het |
| Tinagl1 |
A |
G |
4: 130,066,782 (GRCm39) |
M105T |
probably benign |
Het |
| Ttn |
G |
A |
2: 76,579,673 (GRCm39) |
T23740M |
probably damaging |
Het |
| Tyk2 |
G |
T |
9: 21,019,312 (GRCm39) |
Q1014K |
probably benign |
Het |
| Usp10 |
C |
T |
8: 120,675,161 (GRCm39) |
R461W |
probably benign |
Het |
| Wsb1 |
C |
T |
11: 79,131,188 (GRCm39) |
E403K |
probably benign |
Het |
| Ylpm1 |
C |
G |
12: 85,062,051 (GRCm39) |
P651A |
unknown |
Het |
| Zp1 |
C |
T |
19: 10,896,344 (GRCm39) |
C127Y |
possibly damaging |
Het |
| Zzef1 |
T |
A |
11: 72,803,652 (GRCm39) |
F2466L |
probably damaging |
Het |
|
| Other mutations in Coq6 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
R0508:Coq6
|
UTSW |
12 |
84,414,913 (GRCm39) |
splice site |
probably benign |
|
|
R0607:Coq6
|
UTSW |
12 |
84,415,412 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R1221:Coq6
|
UTSW |
12 |
84,418,301 (GRCm39) |
missense |
possibly damaging |
0.96 |
|
R1885:Coq6
|
UTSW |
12 |
84,419,238 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1898:Coq6
|
UTSW |
12 |
84,413,737 (GRCm39) |
missense |
probably benign |
0.38 |
|
R3153:Coq6
|
UTSW |
12 |
84,418,309 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3824:Coq6
|
UTSW |
12 |
84,419,189 (GRCm39) |
splice site |
probably benign |
|
|
R4015:Coq6
|
UTSW |
12 |
84,413,671 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4241:Coq6
|
UTSW |
12 |
84,420,563 (GRCm39) |
utr 3 prime |
probably benign |
|
|
R4285:Coq6
|
UTSW |
12 |
84,417,178 (GRCm39) |
intron |
probably benign |
|
|
R4353:Coq6
|
UTSW |
12 |
84,414,923 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4598:Coq6
|
UTSW |
12 |
84,408,913 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4599:Coq6
|
UTSW |
12 |
84,408,913 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4868:Coq6
|
UTSW |
12 |
84,417,726 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4887:Coq6
|
UTSW |
12 |
84,419,070 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5567:Coq6
|
UTSW |
12 |
84,415,413 (GRCm39) |
missense |
probably benign |
0.10 |
|
R5570:Coq6
|
UTSW |
12 |
84,415,413 (GRCm39) |
missense |
probably benign |
0.10 |
|
R5715:Coq6
|
UTSW |
12 |
84,413,681 (GRCm39) |
missense |
probably benign |
0.10 |
|
R7035:Coq6
|
UTSW |
12 |
84,415,415 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7096:Coq6
|
UTSW |
12 |
84,408,595 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7851:Coq6
|
UTSW |
12 |
84,418,929 (GRCm39) |
missense |
possibly damaging |
0.57 |
|
R7908:Coq6
|
UTSW |
12 |
84,417,940 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9432:Coq6
|
UTSW |
12 |
84,420,464 (GRCm39) |
missense |
probably benign |
0.01 |
|
Z1176:Coq6
|
UTSW |
12 |
84,417,737 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
| Predicted Primers |
|
| Posted On |
2018-06-25 |
Incidental Mutation