Incidental Mutation 'R5769:Coq8a'
| ID |
446413 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Coq8a
|
| Ensembl Gene |
ENSMUSG00000026489 |
| Gene Name |
coenzyme Q8A |
| Synonyms |
Cabc1, Adck3, 4632432J16Rik |
| MMRRC Submission |
043369-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.797)
|
| Stock # |
R5769 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
179992803-180023585 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 180006681 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Histidine
at position 69
(Y69H)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000124481
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000027766]
[ENSMUST00000159914]
[ENSMUST00000160102]
[ENSMUST00000160121]
[ENSMUST00000160169]
[ENSMUST00000160482]
[ENSMUST00000161814]
[ENSMUST00000161632]
[ENSMUST00000170472]
[ENSMUST00000162769]
[ENSMUST00000161379]
[ENSMUST00000161743]
[ENSMUST00000160879]
[ENSMUST00000161746]
[ENSMUST00000162725]
[ENSMUST00000161300]
|
| AlphaFold |
Q60936 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000027766
AA Change: Y116H
PolyPhen 2
Score 0.956 (Sensitivity: 0.79; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000027766
Gene: ENSMUSG00000026489
AA Change: Y116H
| 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 |
noncoding transcript
Transcript: ENSMUST00000159591
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000159914
|
| SMART Domains |
Protein: ENSMUSP00000123720
Gene: ENSMUSG00000026489
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
30 |
43 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000160102
|
| SMART Domains |
Protein: ENSMUSP00000124289
Gene: ENSMUSG00000026489
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
30 |
43 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000160121
|
| SMART Domains |
Protein: ENSMUSP00000124208
Gene: ENSMUSG00000026489
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
30 |
43 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000160169
AA Change: Y116H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000125089
Gene: ENSMUSG00000026489
AA Change: Y116H
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
30 |
43 |
N/A |
INTRINSIC |
|
low complexity region
|
91 |
110 |
N/A |
INTRINSIC |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000160482
AA Change: Y116H
PolyPhen 2
Score 0.956 (Sensitivity: 0.79; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000124329
Gene: ENSMUSG00000026489
AA Change: Y116H
| 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 damaging
Transcript: ENSMUST00000161814
AA Change: Y116H
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000125071
Gene: ENSMUSG00000026489
AA Change: Y116H
| 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 damaging
Transcript: ENSMUST00000161632
AA Change: Y69H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000124481
Gene: ENSMUSG00000026489
AA Change: Y69H
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
44 |
63 |
N/A |
INTRINSIC |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000170472
AA Change: Y116H
PolyPhen 2
Score 0.956 (Sensitivity: 0.79; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000128290
Gene: ENSMUSG00000026489
AA Change: Y116H
| 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: ENSMUST00000162769
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000161379
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000161743
|
| SMART Domains |
Protein: ENSMUSP00000123905
Gene: ENSMUSG00000026489
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
30 |
43 |
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: ENSMUST00000161746
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000162725
|
| SMART Domains |
Protein: ENSMUSP00000125024
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 |
|
| Meta Mutation Damage Score |
0.0694 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.8%
|
| Validation Efficiency |
98% (65/66) |
| 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: 58 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A430033K04Rik |
T |
A |
5: 138,644,595 (GRCm39) |
V160E |
possibly damaging |
Het |
| Abcb1a |
A |
C |
5: 8,733,426 (GRCm39) |
E106A |
probably benign |
Het |
| Acap3 |
A |
T |
4: 155,986,857 (GRCm39) |
D371V |
probably damaging |
Het |
| Ahi1 |
T |
C |
10: 20,835,981 (GRCm39) |
|
probably null |
Het |
| Defb33 |
T |
A |
8: 21,387,543 (GRCm39) |
F27I |
possibly damaging |
Het |
| Dhx29 |
T |
A |
13: 113,090,251 (GRCm39) |
L776Q |
probably damaging |
Het |
| Dnah3 |
G |
A |
7: 119,689,175 (GRCm39) |
R80* |
probably null |
Het |
| Dtna |
A |
T |
18: 23,784,611 (GRCm39) |
D646V |
probably benign |
Het |
| Eml5 |
T |
A |
12: 98,756,878 (GRCm39) |
D1964V |
probably damaging |
Het |
| Fbn2 |
A |
T |
18: 58,238,271 (GRCm39) |
N575K |
probably damaging |
Het |
| Fbxo38 |
G |
A |
18: 62,648,036 (GRCm39) |
P834L |
probably benign |
Het |
| Fyb2 |
G |
T |
4: 104,870,518 (GRCm39) |
K706N |
probably damaging |
Het |
| Fyb2 |
T |
A |
4: 104,872,841 (GRCm39) |
V738E |
probably damaging |
Het |
| Gcm1 |
A |
G |
9: 77,972,249 (GRCm39) |
T397A |
probably benign |
Het |
| Gins1 |
A |
T |
2: 150,767,918 (GRCm39) |
E149D |
probably damaging |
Het |
| Gm11595 |
G |
A |
11: 99,663,381 (GRCm39) |
R100C |
unknown |
Het |
| Grin2a |
C |
T |
16: 9,579,390 (GRCm39) |
R291K |
possibly damaging |
Het |
| Hdac10 |
T |
C |
15: 89,007,819 (GRCm39) |
M646V |
probably benign |
Het |
| Hes6 |
G |
T |
1: 91,340,671 (GRCm39) |
R38S |
probably damaging |
Het |
| Hipk3 |
G |
A |
2: 104,265,298 (GRCm39) |
P667S |
possibly damaging |
Het |
| Jrk |
T |
C |
15: 74,577,917 (GRCm39) |
Q456R |
probably benign |
Het |
| Klf18 |
A |
C |
4: 117,586,162 (GRCm39) |
|
probably benign |
Het |
| Loxl3 |
A |
G |
6: 83,027,581 (GRCm39) |
T708A |
probably damaging |
Het |
| Lyg1 |
T |
C |
1: 37,989,831 (GRCm39) |
S19G |
unknown |
Het |
| Magel2 |
T |
A |
7: 62,027,861 (GRCm39) |
M255K |
probably benign |
Het |
| Mctp1 |
A |
G |
13: 76,907,927 (GRCm39) |
D242G |
probably damaging |
Het |
| Med13 |
A |
T |
11: 86,236,829 (GRCm39) |
N109K |
probably benign |
Het |
| Mms19 |
A |
G |
19: 41,952,825 (GRCm39) |
F95L |
probably damaging |
Het |
| Nav1 |
A |
G |
1: 135,379,995 (GRCm39) |
L1569P |
probably damaging |
Het |
| Nup188 |
A |
G |
2: 30,220,747 (GRCm39) |
E940G |
probably benign |
Het |
| Oas1d |
T |
C |
5: 121,054,917 (GRCm39) |
F163S |
probably benign |
Het |
| Odf2l |
A |
G |
3: 144,841,492 (GRCm39) |
K304R |
possibly damaging |
Het |
| Otud3 |
T |
A |
4: 138,625,421 (GRCm39) |
N211I |
possibly damaging |
Het |
| Pabpc6 |
A |
T |
17: 9,886,772 (GRCm39) |
L593* |
probably null |
Het |
| Pdcd11 |
T |
A |
19: 47,091,076 (GRCm39) |
L350Q |
possibly damaging |
Het |
| Pdia4 |
A |
G |
6: 47,792,446 (GRCm39) |
|
probably benign |
Het |
| Pik3cb |
G |
A |
9: 98,975,212 (GRCm39) |
Q223* |
probably null |
Het |
| Plb1 |
G |
A |
5: 32,474,866 (GRCm39) |
V696M |
probably benign |
Het |
| Ppp2r5a |
T |
C |
1: 191,104,863 (GRCm39) |
D61G |
probably benign |
Het |
| Preb |
G |
T |
5: 31,115,635 (GRCm39) |
Y87* |
probably null |
Het |
| Rdh16f2 |
A |
T |
10: 127,712,758 (GRCm39) |
N252I |
probably benign |
Het |
| Rida |
T |
C |
15: 34,484,704 (GRCm39) |
|
probably benign |
Het |
| Rxrb |
T |
C |
17: 34,251,821 (GRCm39) |
|
probably benign |
Het |
| Sis |
T |
A |
3: 72,835,568 (GRCm39) |
K931N |
probably damaging |
Het |
| Srcap |
T |
A |
7: 127,158,994 (GRCm39) |
|
probably benign |
Het |
| Srp68 |
A |
G |
11: 116,137,495 (GRCm39) |
S525P |
probably damaging |
Het |
| Susd2 |
C |
T |
10: 75,473,853 (GRCm39) |
A581T |
probably damaging |
Het |
| Synj1 |
A |
G |
16: 90,735,141 (GRCm39) |
|
probably benign |
Het |
| Syt12 |
T |
C |
19: 4,501,072 (GRCm39) |
Y326C |
probably damaging |
Het |
| Tesk2 |
A |
G |
4: 116,659,512 (GRCm39) |
|
probably null |
Het |
| Tmem41b |
G |
A |
7: 109,577,945 (GRCm39) |
T113I |
possibly damaging |
Het |
| Tmtc2 |
T |
C |
10: 105,205,907 (GRCm39) |
I463V |
probably benign |
Het |
| Trak1 |
A |
T |
9: 121,277,904 (GRCm39) |
D320V |
probably damaging |
Het |
| Ushbp1 |
A |
T |
8: 71,838,863 (GRCm39) |
N570K |
probably benign |
Het |
| Vmn1r33 |
T |
A |
6: 66,588,817 (GRCm39) |
I246F |
possibly damaging |
Het |
| Vmn2r54 |
A |
C |
7: 12,349,209 (GRCm39) |
L791R |
possibly damaging |
Het |
| Washc1 |
A |
T |
17: 66,425,111 (GRCm39) |
T372S |
probably benign |
Het |
| Zfp1005 |
A |
G |
2: 150,110,198 (GRCm39) |
E296G |
possibly 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 |
|
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 |
PCR Primer
(F):5'- TTCAATGTCTTCAGCCGTGAG -3'
(R):5'- GGGCAGTCACATGCAAGTAC -3'
Sequencing Primer
(F):5'- CGTGAGGCCTCCCACGG -3'
(R):5'- GTCACATGCAAGTACCTCACCAG -3'
|
| Posted On |
2016-11-21 |
Incidental Mutation