Incidental Mutation 'R1148:Coq8a'
| ID |
165186 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Coq8a
|
| Ensembl Gene |
ENSMUSG00000026489 |
| Gene Name |
coenzyme Q8A |
| Synonyms |
Cabc1, Adck3, 4632432J16Rik |
| MMRRC Submission |
039221-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.797)
|
| Stock # |
R1148 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
1 |
| Chromosomal Location |
179992803-180023585 bp(-) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
G to A
at 179996968 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000128290
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000027766]
[ENSMUST00000111117]
[ENSMUST00000160169]
[ENSMUST00000160879]
[ENSMUST00000161300]
[ENSMUST00000170472]
[ENSMUST00000161632]
[ENSMUST00000162769]
|
| AlphaFold |
Q60936 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000027766
|
| SMART Domains |
Protein: ENSMUSP00000027766
Gene: ENSMUSG00000026489
| 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 |
noncoding transcript
Transcript: ENSMUST00000159591
|
| 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 benign
Transcript: ENSMUST00000161300
|
| SMART Domains |
Protein: ENSMUSP00000125002
Gene: ENSMUSG00000026489
| 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: ENSMUST00000170472
|
| SMART Domains |
Protein: ENSMUSP00000128290
Gene: ENSMUSG00000026489
| 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 |
|
| 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
|
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.5%
- 10x: 96.7%
- 20x: 93.7%
|
| Validation Efficiency |
100% (42/42) |
| 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: 45 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2810021J22Rik |
T |
C |
11: 58,767,544 (GRCm39) |
S14P |
probably damaging |
Het |
| Ablim2 |
T |
C |
5: 35,966,605 (GRCm39) |
F178S |
probably damaging |
Het |
| AC149051.1 |
A |
G |
8: 64,379,889 (GRCm39) |
L981P |
probably damaging |
Het |
| Alg10b |
T |
C |
15: 90,112,068 (GRCm39) |
F304S |
possibly damaging |
Het |
| Ank3 |
C |
T |
10: 69,718,369 (GRCm39) |
S540F |
probably damaging |
Het |
| Arhgef16 |
T |
C |
4: 154,365,346 (GRCm39) |
N590D |
probably benign |
Het |
| Arsi |
G |
A |
18: 61,049,723 (GRCm39) |
G202E |
probably benign |
Het |
| Bbs9 |
T |
C |
9: 22,486,396 (GRCm39) |
|
probably benign |
Het |
| Cfap58 |
C |
T |
19: 47,976,943 (GRCm39) |
H731Y |
probably damaging |
Het |
| Cilp |
T |
A |
9: 65,187,598 (GRCm39) |
L1231Q |
possibly damaging |
Het |
| Cyp4x1 |
A |
G |
4: 114,983,752 (GRCm39) |
|
probably benign |
Het |
| Dars1 |
T |
C |
1: 128,294,646 (GRCm39) |
|
probably benign |
Het |
| Disp2 |
G |
A |
2: 118,636,899 (GRCm39) |
|
probably null |
Het |
| Dnah5 |
T |
C |
15: 28,421,836 (GRCm39) |
L3896P |
probably damaging |
Het |
| Dpp8 |
T |
C |
9: 64,961,114 (GRCm39) |
|
probably null |
Het |
| Esp4 |
A |
C |
17: 40,913,262 (GRCm39) |
N43T |
probably benign |
Het |
| Fat3 |
T |
C |
9: 15,908,070 (GRCm39) |
D2644G |
probably damaging |
Het |
| Fgd5 |
A |
G |
6: 91,964,612 (GRCm39) |
K124E |
probably benign |
Het |
| Folh1 |
T |
C |
7: 86,410,938 (GRCm39) |
D268G |
probably damaging |
Het |
| Gm10608 |
CAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA |
CAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA |
9: 118,989,784 (GRCm39) |
|
probably null |
Homo |
| Hexd |
A |
G |
11: 121,112,093 (GRCm39) |
I438V |
probably benign |
Het |
| Lonp2 |
A |
G |
8: 87,363,168 (GRCm39) |
E262G |
probably benign |
Het |
| Ly6h |
G |
T |
15: 75,437,021 (GRCm39) |
S118R |
unknown |
Het |
| Mapk12 |
T |
C |
15: 89,018,826 (GRCm39) |
Y203C |
probably damaging |
Het |
| Mapk15 |
A |
G |
15: 75,870,004 (GRCm39) |
T375A |
probably benign |
Het |
| Morc2a |
A |
G |
11: 3,628,557 (GRCm39) |
N337D |
probably benign |
Het |
| Nsd3 |
A |
G |
8: 26,203,407 (GRCm39) |
D1307G |
probably benign |
Het |
| Or5g9 |
C |
A |
2: 85,552,620 (GRCm39) |
Y290* |
probably null |
Het |
| Osbpl11 |
T |
C |
16: 33,047,582 (GRCm39) |
F515S |
probably damaging |
Het |
| Pcdh15 |
T |
C |
10: 74,006,392 (GRCm39) |
V90A |
probably damaging |
Het |
| Ptpn4 |
T |
A |
1: 119,603,439 (GRCm39) |
|
probably benign |
Het |
| Ptpn4 |
T |
C |
1: 119,612,270 (GRCm39) |
D41G |
probably damaging |
Het |
| Rbm4b |
A |
G |
19: 4,807,527 (GRCm39) |
H81R |
probably damaging |
Het |
| Ric1 |
T |
C |
19: 29,557,249 (GRCm39) |
Y445H |
probably benign |
Het |
| Sez6l2 |
C |
A |
7: 126,560,984 (GRCm39) |
P483Q |
probably damaging |
Het |
| Sh3d19 |
A |
G |
3: 86,014,634 (GRCm39) |
D475G |
possibly damaging |
Het |
| Shprh |
T |
C |
10: 11,089,226 (GRCm39) |
S1655P |
possibly damaging |
Het |
| Slc25a12 |
G |
A |
2: 71,142,912 (GRCm39) |
|
probably benign |
Het |
| Strc |
A |
G |
2: 121,202,558 (GRCm39) |
|
probably benign |
Het |
| Trp53rka |
C |
A |
2: 165,334,961 (GRCm39) |
|
probably benign |
Het |
| Ttc22 |
G |
A |
4: 106,480,228 (GRCm39) |
V161M |
probably damaging |
Het |
| Unc79 |
T |
C |
12: 103,078,926 (GRCm39) |
L1504P |
probably damaging |
Het |
| Vldlr |
A |
G |
19: 27,218,691 (GRCm39) |
N514S |
probably benign |
Het |
| Wnk1 |
A |
G |
6: 119,928,967 (GRCm39) |
|
probably benign |
Het |
| Wsb2 |
T |
C |
5: 117,508,742 (GRCm39) |
|
probably benign |
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 |
|
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 |
|
R7125:Coq8a
|
UTSW |
1 |
179,996,366 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
|
| Posted On |
2014-03-28 |
Incidental Mutation