Incidental Mutation 'R7125:Coq8a'
| ID |
552248 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Coq8a
|
| Ensembl Gene |
ENSMUSG00000026489 |
| Gene Name |
coenzyme Q8A |
| Synonyms |
Cabc1, Adck3, 4632432J16Rik |
| MMRRC Submission |
045327-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.797)
|
| Stock # |
R7125 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
179992803-180023585 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 179996366 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Isoleucine
at position 490
(N490I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000027766
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000027766]
[ENSMUST00000111117]
[ENSMUST00000160169]
[ENSMUST00000160879]
[ENSMUST00000161300]
[ENSMUST00000161632]
[ENSMUST00000162769]
[ENSMUST00000170472]
|
| AlphaFold |
Q60936 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000027766
AA Change: N490I
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000027766
Gene: ENSMUSG00000026489
AA Change: N490I
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
30 |
43 |
N/A |
INTRINSIC |
|
low complexity region
|
91 |
110 |
N/A |
INTRINSIC |
|
low complexity region
|
215 |
227 |
N/A |
INTRINSIC |
|
Pfam:ABC1
|
315 |
431 |
5.4e-35 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000111117
|
| SMART Domains |
Protein: ENSMUSP00000106746
Gene: ENSMUSG00000026490
| Domain | Start | End | E-Value | Type |
|---|
|
S_TKc
|
77 |
343 |
1.06e-86 |
SMART |
|
S_TK_X
|
344 |
406 |
1.18e-15 |
SMART |
|
low complexity region
|
484 |
499 |
N/A |
INTRINSIC |
|
Pfam:KELK
|
529 |
608 |
1.1e-32 |
PFAM |
|
coiled coil region
|
713 |
816 |
N/A |
INTRINSIC |
|
Pfam:DMPK_coil
|
881 |
941 |
2.6e-29 |
PFAM |
|
C1
|
1013 |
1062 |
4.09e-7 |
SMART |
|
PH
|
1083 |
1203 |
6.02e-8 |
SMART |
|
CNH
|
1228 |
1505 |
3.37e-17 |
SMART |
|
low complexity region
|
1550 |
1562 |
N/A |
INTRINSIC |
|
PBD
|
1571 |
1606 |
2.05e-10 |
SMART |
|
low complexity region
|
1625 |
1640 |
N/A |
INTRINSIC |
|
low complexity region
|
1661 |
1674 |
N/A |
INTRINSIC |
|
low complexity region
|
1700 |
1714 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000143176
|
| SMART Domains |
Protein: ENSMUSP00000115261
Gene: ENSMUSG00000026490
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DMPK_coil
|
84 |
144 |
1.3e-29 |
PFAM |
|
C1
|
203 |
252 |
4.09e-7 |
SMART |
|
PH
|
273 |
393 |
6.02e-8 |
SMART |
|
CNH
|
418 |
695 |
3.37e-17 |
SMART |
|
low complexity region
|
740 |
752 |
N/A |
INTRINSIC |
|
PBD
|
761 |
796 |
1.02e-5 |
SMART |
|
PBD
|
802 |
839 |
2.21e-1 |
SMART |
|
low complexity region
|
877 |
892 |
N/A |
INTRINSIC |
|
low complexity region
|
913 |
926 |
N/A |
INTRINSIC |
|
low complexity region
|
952 |
966 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000160169
|
| SMART Domains |
Protein: ENSMUSP00000125089
Gene: ENSMUSG00000026489
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
30 |
43 |
N/A |
INTRINSIC |
|
low complexity region
|
91 |
110 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000160879
|
| SMART Domains |
Protein: ENSMUSP00000141948
Gene: ENSMUSG00000026489
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
30 |
43 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000161300
AA Change: N246I
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000125002
Gene: ENSMUSG00000026489
AA Change: N246I
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
13 |
30 |
N/A |
INTRINSIC |
|
Pfam:ABC1
|
93 |
187 |
5.8e-16 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000161632
|
| SMART Domains |
Protein: ENSMUSP00000124481
Gene: ENSMUSG00000026489
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
44 |
63 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000162769
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000170472
AA Change: N490I
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000128290
Gene: ENSMUSG00000026489
AA Change: N490I
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
30 |
43 |
N/A |
INTRINSIC |
|
low complexity region
|
91 |
110 |
N/A |
INTRINSIC |
|
low complexity region
|
215 |
227 |
N/A |
INTRINSIC |
|
Pfam:ABC1
|
315 |
431 |
5.1e-35 |
PFAM |
|
| Meta Mutation Damage Score |
0.9287 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.2%
|
| Validation Efficiency |
96% (48/50) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a mitochondrial protein similar to yeast ABC1, which functions in an electron-transferring membrane protein complex in the respiratory chain. It is not related to the family of ABC transporter proteins. Expression of this gene is induced by the tumor suppressor p53 and in response to DNA damage, and inhibiting its expression partially suppresses p53-induced apoptosis. Alternatively spliced transcript variants have been found; however, their full-length nature has not been determined. [provided by RefSeq, Jul 2008]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 50 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 5730455P16Rik |
A |
T |
11: 80,255,751 (GRCm39) |
C296S |
probably damaging |
Het |
| Ago3 |
T |
C |
4: 126,264,145 (GRCm39) |
I354V |
probably null |
Het |
| Aldh1l1 |
G |
A |
6: 90,553,761 (GRCm39) |
|
probably null |
Het |
| Ankrd49 |
TAA |
TA |
9: 14,693,836 (GRCm39) |
|
probably null |
Het |
| B3gnt7 |
A |
G |
1: 86,233,099 (GRCm39) |
Y115C |
probably damaging |
Het |
| Cacna1h |
A |
T |
17: 25,602,510 (GRCm39) |
M1506K |
probably damaging |
Het |
| Cars1 |
T |
C |
7: 143,138,510 (GRCm39) |
T226A |
probably benign |
Het |
| Ccdc28b |
T |
A |
4: 129,514,885 (GRCm39) |
T75S |
probably benign |
Het |
| Cdc42bpg |
A |
G |
19: 6,372,321 (GRCm39) |
I1436V |
probably damaging |
Het |
| Cep152 |
A |
T |
2: 125,408,593 (GRCm39) |
Y1320* |
probably null |
Het |
| Cntnap2 |
A |
T |
6: 46,965,580 (GRCm39) |
Y797F |
probably benign |
Het |
| Csmd2 |
T |
C |
4: 128,389,955 (GRCm39) |
L2230P |
|
Het |
| Cyp4a14 |
A |
T |
4: 115,348,358 (GRCm39) |
I373N |
probably damaging |
Het |
| Ddx1 |
A |
G |
12: 13,293,864 (GRCm39) |
S86P |
probably benign |
Het |
| Dennd3 |
A |
T |
15: 73,405,140 (GRCm39) |
I298F |
possibly damaging |
Het |
| Disp1 |
C |
A |
1: 182,869,030 (GRCm39) |
R1130L |
probably damaging |
Het |
| Dnah2 |
T |
C |
11: 69,327,008 (GRCm39) |
T3533A |
probably damaging |
Het |
| Fam53b |
T |
C |
7: 132,373,357 (GRCm39) |
H27R |
probably damaging |
Het |
| Firrm |
T |
C |
1: 163,789,631 (GRCm39) |
T635A |
probably benign |
Het |
| Fyb1 |
G |
A |
15: 6,674,337 (GRCm39) |
E658K |
possibly damaging |
Het |
| Gapvd1 |
T |
C |
2: 34,585,612 (GRCm39) |
S996G |
probably benign |
Het |
| Gm47959 |
G |
A |
1: 82,978,503 (GRCm39) |
G57S |
unknown |
Het |
| Golgb1 |
T |
A |
16: 36,738,325 (GRCm39) |
H2262Q |
possibly damaging |
Het |
| Gpam |
T |
C |
19: 55,064,767 (GRCm39) |
T646A |
probably benign |
Het |
| Gpt2 |
G |
A |
8: 86,244,681 (GRCm39) |
E325K |
probably benign |
Het |
| Hexd |
C |
T |
11: 121,095,496 (GRCm39) |
|
probably benign |
Het |
| Micu2 |
A |
T |
14: 58,209,238 (GRCm39) |
Y73* |
probably null |
Het |
| N4bp2l2 |
T |
C |
5: 150,573,894 (GRCm39) |
|
probably null |
Het |
| Or11h7 |
T |
C |
14: 50,891,041 (GRCm39) |
C116R |
possibly damaging |
Het |
| Or1e31 |
T |
C |
11: 73,689,990 (GRCm39) |
M198V |
probably benign |
Het |
| Or1m1 |
A |
T |
9: 18,666,174 (GRCm39) |
Y252* |
probably null |
Het |
| Or51t4 |
T |
C |
7: 102,598,386 (GRCm39) |
V238A |
probably damaging |
Het |
| Or5b112 |
A |
T |
19: 13,319,103 (GRCm39) |
|
probably null |
Het |
| P3r3urf |
A |
G |
4: 116,030,667 (GRCm39) |
M24V |
probably benign |
Het |
| Prkca |
A |
G |
11: 107,874,848 (GRCm39) |
Y365H |
probably damaging |
Het |
| Ptpre |
C |
T |
7: 135,255,744 (GRCm39) |
R155* |
probably null |
Het |
| Ryr2 |
T |
A |
13: 11,684,873 (GRCm39) |
N3023Y |
probably damaging |
Het |
| S100a7a |
A |
G |
3: 90,562,822 (GRCm39) |
D3G |
probably benign |
Het |
| Scn2a |
T |
C |
2: 65,594,277 (GRCm39) |
F1709L |
probably damaging |
Het |
| Slc15a2 |
T |
C |
16: 36,602,660 (GRCm39) |
E67G |
probably damaging |
Het |
| Slc25a22 |
A |
G |
7: 141,011,655 (GRCm39) |
L195P |
probably damaging |
Het |
| Sp140 |
TTTTTTTTTTTTT |
TTTTTTTTTTTTTTTTTT |
1: 85,572,290 (GRCm39) |
|
probably benign |
Het |
| Stim1 |
T |
A |
7: 102,084,741 (GRCm39) |
H564Q |
possibly damaging |
Het |
| Sulf2 |
C |
T |
2: 165,917,448 (GRCm39) |
W855* |
probably null |
Het |
| Tenm3 |
T |
C |
8: 49,127,588 (GRCm39) |
N30S |
probably benign |
Het |
| Trim59 |
T |
C |
3: 68,944,197 (GRCm39) |
D381G |
probably benign |
Het |
| Ttc21b |
T |
C |
2: 66,066,670 (GRCm39) |
T328A |
probably benign |
Het |
| Ttc6 |
C |
G |
12: 57,623,125 (GRCm39) |
Q175E |
probably benign |
Het |
| Vmn2r44 |
T |
C |
7: 8,370,941 (GRCm39) |
I702V |
probably damaging |
Het |
| Zfp768 |
A |
T |
7: 126,943,959 (GRCm39) |
F59L |
probably damaging |
Het |
|
| Other mutations in Coq8a |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00583:Coq8a
|
APN |
1 |
179,995,954 (GRCm39) |
missense |
probably benign |
0.11 |
|
IGL01797:Coq8a
|
APN |
1 |
179,997,284 (GRCm39) |
splice site |
probably null |
|
|
IGL01873:Coq8a
|
APN |
1 |
180,006,542 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1148:Coq8a
|
UTSW |
1 |
179,996,968 (GRCm39) |
splice site |
probably benign |
|
|
R1421:Coq8a
|
UTSW |
1 |
179,998,006 (GRCm39) |
splice site |
probably benign |
|
|
R1743:Coq8a
|
UTSW |
1 |
180,009,794 (GRCm39) |
missense |
probably benign |
0.14 |
|
R4678:Coq8a
|
UTSW |
1 |
179,997,646 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4827:Coq8a
|
UTSW |
1 |
179,994,903 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
R4904:Coq8a
|
UTSW |
1 |
180,006,168 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5716:Coq8a
|
UTSW |
1 |
180,006,825 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R5769:Coq8a
|
UTSW |
1 |
180,006,681 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6636:Coq8a
|
UTSW |
1 |
180,006,552 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6991:Coq8a
|
UTSW |
1 |
180,006,633 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7158:Coq8a
|
UTSW |
1 |
180,006,749 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7161:Coq8a
|
UTSW |
1 |
179,997,906 (GRCm39) |
critical splice donor site |
probably null |
|
|
R8794:Coq8a
|
UTSW |
1 |
180,006,773 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9277:Coq8a
|
UTSW |
1 |
180,006,776 (GRCm39) |
missense |
probably benign |
0.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGCCACCTACAGATGGAGAC -3'
(R):5'- AGAGACCCTAAGCCCTTCCTTG -3'
Sequencing Primer
(F):5'- TGGAGACACAACACTGAAGCTTC -3'
(R):5'- CAAGGGGTAGTGACTGCGTC -3'
|
| Posted On |
2019-05-15 |
Incidental Mutation