Incidental Mutation 'R4545:Coq8b'
| ID |
333716 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Coq8b
|
| Ensembl Gene |
ENSMUSG00000003762 |
| Gene Name |
coenzyme Q8B |
| Synonyms |
0610012P18Rik, Adck4 |
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R4545 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
26932448-26957375 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 26932930 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Cysteine to Phenylalanine
at position 13
(C13F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000123309
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000003850]
[ENSMUST00000003860]
[ENSMUST00000108378]
[ENSMUST00000128090]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000003850
|
| SMART Domains |
Protein: ENSMUSP00000003850
Gene: ENSMUSG00000003752
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
28 |
59 |
N/A |
INTRINSIC |
|
low complexity region
|
346 |
363 |
N/A |
INTRINSIC |
|
Pfam:IPK
|
462 |
673 |
3.7e-42 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000003860
AA Change: C13F
PolyPhen 2
Score 0.316 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000003860
Gene: ENSMUSG00000003762
AA Change: C13F
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
93 |
109 |
N/A |
INTRINSIC |
|
Pfam:ABC1
|
198 |
314 |
4.9e-34 |
PFAM |
|
low complexity region
|
348 |
364 |
N/A |
INTRINSIC |
|
low complexity region
|
474 |
483 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000108378
AA Change: C13F
PolyPhen 2
Score 0.316 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000104015
Gene: ENSMUSG00000003762
AA Change: C13F
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
93 |
109 |
N/A |
INTRINSIC |
|
Pfam:ABC1
|
198 |
314 |
4.4e-34 |
PFAM |
|
low complexity region
|
348 |
364 |
N/A |
INTRINSIC |
|
low complexity region
|
474 |
483 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000128090
AA Change: C13F
PolyPhen 2
Score 0.452 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000123309
Gene: ENSMUSG00000003762
AA Change: C13F
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
93 |
109 |
N/A |
INTRINSIC |
|
Pfam:ABC1
|
198 |
304 |
3.4e-32 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000206441
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 97.1%
- 20x: 94.7%
|
| Validation Efficiency |
98% (41/42) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein with two copies of a domain found in protein kinases. The encoded protein has a complete protein kinase catalytic domain, and a truncated domain that contains only the active and binding sites of the protein kinase domain, however, it is not known whether the protein has any kinase activity. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2011]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Akr1c20 |
A |
C |
13: 4,557,843 (GRCm39) |
V201G |
probably damaging |
Het |
| Atf7 |
A |
G |
15: 102,442,762 (GRCm39) |
V449A |
probably benign |
Het |
| Ccr1 |
G |
A |
9: 123,764,437 (GRCm39) |
A31V |
probably benign |
Het |
| Chrna6 |
A |
T |
8: 27,896,711 (GRCm39) |
S389T |
probably benign |
Het |
| Clic6 |
C |
T |
16: 92,289,045 (GRCm39) |
|
probably benign |
Het |
| Cmya5 |
G |
A |
13: 93,228,426 (GRCm39) |
R2221* |
probably null |
Het |
| Cspg4 |
T |
A |
9: 56,795,913 (GRCm39) |
L1216Q |
possibly damaging |
Het |
| Decr1 |
C |
A |
4: 15,930,979 (GRCm39) |
V118F |
probably damaging |
Het |
| Dlec1 |
A |
T |
9: 118,957,146 (GRCm39) |
I796F |
probably damaging |
Het |
| Dnajc11 |
T |
A |
4: 152,064,398 (GRCm39) |
D516E |
probably damaging |
Het |
| Dock8 |
G |
A |
19: 25,165,722 (GRCm39) |
V1869M |
probably damaging |
Het |
| Dst |
A |
G |
1: 34,227,819 (GRCm39) |
D1982G |
probably damaging |
Het |
| Gnptab |
G |
A |
10: 88,250,457 (GRCm39) |
D190N |
probably benign |
Het |
| Golga4 |
A |
G |
9: 118,385,913 (GRCm39) |
K22E |
probably damaging |
Het |
| Hecw2 |
T |
C |
1: 53,852,381 (GRCm39) |
*1579W |
probably null |
Het |
| Ica1l |
A |
G |
1: 60,052,977 (GRCm39) |
|
probably null |
Het |
| Ift122 |
T |
A |
6: 115,867,549 (GRCm39) |
L433Q |
probably damaging |
Het |
| Iqgap1 |
T |
C |
7: 80,412,315 (GRCm39) |
|
probably null |
Het |
| Klra13-ps |
T |
C |
6: 130,268,232 (GRCm39) |
|
noncoding transcript |
Het |
| Mndal |
A |
T |
1: 173,703,230 (GRCm39) |
Y58* |
probably null |
Het |
| Mvb12b |
G |
C |
2: 33,717,712 (GRCm39) |
P172R |
possibly damaging |
Het |
| Ncapg |
T |
C |
5: 45,828,554 (GRCm39) |
F102L |
probably damaging |
Het |
| Or1e30 |
T |
C |
11: 73,677,992 (GRCm39) |
V76A |
probably damaging |
Het |
| Or5an11 |
T |
C |
19: 12,246,188 (GRCm39) |
V198A |
possibly damaging |
Het |
| Or5b97 |
T |
A |
19: 12,878,632 (GRCm39) |
K171* |
probably null |
Het |
| Pde8a |
A |
T |
7: 80,977,847 (GRCm39) |
R713S |
probably damaging |
Het |
| Rbks |
T |
C |
5: 31,781,912 (GRCm39) |
N296S |
probably benign |
Het |
| Sema3c |
G |
A |
5: 17,899,770 (GRCm39) |
V421I |
probably benign |
Het |
| Tm9sf1 |
A |
G |
14: 55,875,565 (GRCm39) |
V393A |
possibly damaging |
Het |
| Tubgcp2 |
G |
A |
7: 139,575,984 (GRCm39) |
P893L |
possibly damaging |
Het |
| Uba52rt |
C |
T |
4: 3,973,244 (GRCm39) |
R106H |
probably benign |
Het |
| Vnn3 |
G |
A |
10: 23,732,224 (GRCm39) |
R158H |
probably benign |
Het |
| Zfa-ps |
G |
T |
10: 52,421,032 (GRCm39) |
|
noncoding transcript |
Het |
| Zfp414 |
T |
C |
17: 33,850,622 (GRCm39) |
|
probably benign |
Het |
| Zfp810 |
G |
A |
9: 22,190,041 (GRCm39) |
T289I |
probably damaging |
Het |
| Zfp819 |
G |
T |
7: 43,267,209 (GRCm39) |
R488L |
probably damaging |
Het |
| Zfp942 |
C |
T |
17: 22,147,285 (GRCm39) |
G448D |
probably benign |
Het |
| Zscan12 |
A |
G |
13: 21,550,875 (GRCm39) |
K165E |
possibly damaging |
Het |
|
| Other mutations in Coq8b |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00490:Coq8b
|
APN |
7 |
26,956,902 (GRCm39) |
missense |
probably benign |
|
|
IGL01116:Coq8b
|
APN |
7 |
26,939,282 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
IGL01123:Coq8b
|
APN |
7 |
26,939,509 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02949:Coq8b
|
APN |
7 |
26,956,038 (GRCm39) |
missense |
possibly damaging |
0.70 |
|
R0067:Coq8b
|
UTSW |
7 |
26,932,906 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R0690:Coq8b
|
UTSW |
7 |
26,941,674 (GRCm39) |
missense |
probably benign |
0.15 |
|
R1307:Coq8b
|
UTSW |
7 |
26,950,016 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1470:Coq8b
|
UTSW |
7 |
26,951,734 (GRCm39) |
missense |
probably benign |
0.10 |
|
R1470:Coq8b
|
UTSW |
7 |
26,951,734 (GRCm39) |
missense |
probably benign |
0.10 |
|
R1551:Coq8b
|
UTSW |
7 |
26,956,907 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1682:Coq8b
|
UTSW |
7 |
26,939,549 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1895:Coq8b
|
UTSW |
7 |
26,939,299 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R1945:Coq8b
|
UTSW |
7 |
26,933,406 (GRCm39) |
small insertion |
probably benign |
|
|
R1945:Coq8b
|
UTSW |
7 |
26,933,405 (GRCm39) |
small insertion |
probably benign |
|
|
R1946:Coq8b
|
UTSW |
7 |
26,939,299 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R2069:Coq8b
|
UTSW |
7 |
26,956,802 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3758:Coq8b
|
UTSW |
7 |
26,941,652 (GRCm39) |
nonsense |
probably null |
|
|
R4838:Coq8b
|
UTSW |
7 |
26,950,016 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5181:Coq8b
|
UTSW |
7 |
26,951,747 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
R5345:Coq8b
|
UTSW |
7 |
26,949,773 (GRCm39) |
missense |
probably benign |
|
|
R5806:Coq8b
|
UTSW |
7 |
26,950,050 (GRCm39) |
nonsense |
probably null |
|
|
R5943:Coq8b
|
UTSW |
7 |
26,933,428 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6005:Coq8b
|
UTSW |
7 |
26,956,750 (GRCm39) |
nonsense |
probably null |
|
|
R7028:Coq8b
|
UTSW |
7 |
26,939,293 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7709:Coq8b
|
UTSW |
7 |
26,949,962 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R8300:Coq8b
|
UTSW |
7 |
26,941,671 (GRCm39) |
missense |
possibly damaging |
0.72 |
|
R9039:Coq8b
|
UTSW |
7 |
26,950,011 (GRCm39) |
missense |
probably benign |
0.19 |
|
R9310:Coq8b
|
UTSW |
7 |
26,941,486 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGTTCTTAGCAACGTGGGC -3'
(R):5'- GCCAAGCAACTCCTACATGG -3'
Sequencing Primer
(F):5'- CTTTTCCAACAAGAGCGC -3'
(R):5'- TACATGGCCCCTGCAGAGAAG -3'
|
| Posted On |
2015-08-18 |
Incidental Mutation