Incidental Mutation 'R6530:Coq7'
| ID |
522273 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Coq7
|
| Ensembl Gene |
ENSMUSG00000030652 |
| Gene Name |
demethyl-Q 7 |
| Synonyms |
clk-1 |
| MMRRC Submission |
044656-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R6530 (G1)
|
| Quality Score |
209.009 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
118108881-118132529 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 118124558 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 203
(T203A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000146797
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000032887]
[ENSMUST00000098090]
[ENSMUST00000209146]
|
| AlphaFold |
P97478 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000032887
|
| SMART Domains |
Protein: ENSMUSP00000032887
Gene: ENSMUSG00000030652
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
3 |
10 |
N/A |
INTRINSIC |
|
Pfam:COQ7
|
48 |
217 |
3.5e-78 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000098090
|
| SMART Domains |
Protein: ENSMUSP00000095695
Gene: ENSMUSG00000030652
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
3 |
10 |
N/A |
INTRINSIC |
|
Pfam:COQ7
|
48 |
210 |
5.9e-69 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000127700
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000207046
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000209146
AA Change: T203A
PolyPhen 2
Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.5%
- 20x: 92.1%
|
| Validation Efficiency |
100% (36/36) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is similar to a mitochondrial di-iron containing hydroxylase in Saccharomyces cerevisiae that is involved with ubiquinone biosynthesis. Mutations in the yeast gene lead to slower development and longer life span. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jul 2010]
PHENOTYPE: Mice homozygous for null mutations in this gene are embryonic lethal during mid-gestation with aborted neurogenesis and abnormal mitochondria. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 36 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acox3 |
T |
C |
5: 35,746,039 (GRCm39) |
L74P |
possibly damaging |
Het |
| Adamtsl4 |
T |
C |
3: 95,588,364 (GRCm39) |
T575A |
probably benign |
Het |
| Adck5 |
T |
G |
15: 76,478,047 (GRCm39) |
D224E |
probably benign |
Het |
| Asic4 |
A |
G |
1: 75,448,979 (GRCm39) |
N376S |
probably damaging |
Het |
| Atl3 |
T |
A |
19: 7,499,499 (GRCm39) |
D254E |
probably benign |
Het |
| Cacnb2 |
G |
T |
2: 14,979,978 (GRCm39) |
A274S |
probably damaging |
Het |
| Car2 |
T |
C |
3: 14,961,791 (GRCm39) |
V159A |
probably benign |
Het |
| Ccdc138 |
G |
C |
10: 58,380,790 (GRCm39) |
G474R |
probably damaging |
Het |
| Dnah12 |
T |
C |
14: 26,456,865 (GRCm39) |
I877T |
probably damaging |
Het |
| Dnah7a |
C |
T |
1: 53,542,856 (GRCm39) |
R2438H |
probably benign |
Het |
| Efhc1 |
T |
A |
1: 21,031,366 (GRCm39) |
|
probably null |
Het |
| Fbn1 |
G |
A |
2: 125,231,190 (GRCm39) |
R459C |
probably damaging |
Het |
| Fer1l4 |
A |
G |
2: 155,889,785 (GRCm39) |
|
probably null |
Het |
| Gm5114 |
G |
A |
7: 39,057,514 (GRCm39) |
P702S |
probably damaging |
Het |
| Inpp5f |
T |
A |
7: 128,265,802 (GRCm39) |
Y182* |
probably null |
Het |
| Irf6 |
C |
T |
1: 192,839,657 (GRCm39) |
T44M |
probably damaging |
Het |
| Loxhd1 |
A |
G |
18: 77,499,847 (GRCm39) |
N87S |
probably benign |
Het |
| Mtrf1 |
A |
T |
14: 79,640,331 (GRCm39) |
Q162L |
possibly damaging |
Het |
| Myoz3 |
G |
T |
18: 60,712,592 (GRCm39) |
|
probably null |
Het |
| Ncbp2 |
CGTCTGGATG |
CG |
16: 31,775,161 (GRCm39) |
|
probably null |
Het |
| Nkd2 |
C |
T |
13: 73,970,809 (GRCm39) |
G258R |
probably null |
Het |
| Or8k27 |
A |
C |
2: 86,275,826 (GRCm39) |
S167A |
probably benign |
Het |
| Parg |
T |
C |
14: 31,931,156 (GRCm39) |
S176P |
probably damaging |
Het |
| Prdm2 |
A |
C |
4: 142,860,617 (GRCm39) |
V891G |
probably benign |
Het |
| Rasl10a |
T |
A |
11: 5,008,367 (GRCm39) |
I21N |
probably damaging |
Het |
| Reg4 |
T |
C |
3: 98,132,148 (GRCm39) |
V20A |
probably benign |
Het |
| Shprh |
T |
A |
10: 11,070,011 (GRCm39) |
S1462R |
probably benign |
Het |
| Spmip1 |
G |
A |
6: 29,471,950 (GRCm39) |
|
probably null |
Het |
| Sult1e1 |
T |
C |
5: 87,724,147 (GRCm39) |
E270G |
probably benign |
Het |
| Trpm7 |
A |
C |
2: 126,654,631 (GRCm39) |
F1436V |
probably damaging |
Het |
| Ttc33 |
A |
G |
15: 5,241,603 (GRCm39) |
|
probably null |
Het |
| Ucp2 |
A |
T |
7: 100,147,430 (GRCm39) |
E161D |
probably benign |
Het |
| Vmn2r79 |
T |
C |
7: 86,651,252 (GRCm39) |
F217S |
possibly damaging |
Het |
| Wdr93 |
G |
A |
7: 79,405,741 (GRCm39) |
A207T |
probably damaging |
Het |
| Zbed6 |
A |
G |
1: 133,586,939 (GRCm39) |
S133P |
probably damaging |
Het |
| Zfp949 |
T |
C |
9: 88,449,340 (GRCm39) |
|
probably null |
Het |
|
| Other mutations in Coq7 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01639:Coq7
|
APN |
7 |
118,124,527 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R0309:Coq7
|
UTSW |
7 |
118,128,940 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R0628:Coq7
|
UTSW |
7 |
118,128,867 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1459:Coq7
|
UTSW |
7 |
118,109,260 (GRCm39) |
missense |
unknown |
|
|
R1535:Coq7
|
UTSW |
7 |
118,128,897 (GRCm39) |
missense |
possibly damaging |
0.48 |
|
R1612:Coq7
|
UTSW |
7 |
118,109,134 (GRCm39) |
missense |
unknown |
|
|
R2519:Coq7
|
UTSW |
7 |
118,109,371 (GRCm39) |
missense |
unknown |
|
|
R4095:Coq7
|
UTSW |
7 |
118,126,701 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R4516:Coq7
|
UTSW |
7 |
118,109,130 (GRCm39) |
missense |
unknown |
|
|
R4972:Coq7
|
UTSW |
7 |
118,109,340 (GRCm39) |
missense |
unknown |
|
|
R5183:Coq7
|
UTSW |
7 |
118,127,490 (GRCm39) |
intron |
probably benign |
|
|
R5579:Coq7
|
UTSW |
7 |
118,116,558 (GRCm39) |
missense |
unknown |
|
|
R5619:Coq7
|
UTSW |
7 |
118,126,709 (GRCm39) |
splice site |
probably benign |
|
|
R5789:Coq7
|
UTSW |
7 |
118,128,929 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
R6911:Coq7
|
UTSW |
7 |
118,109,385 (GRCm39) |
missense |
unknown |
|
|
R7212:Coq7
|
UTSW |
7 |
118,109,271 (GRCm39) |
missense |
unknown |
|
|
R7248:Coq7
|
UTSW |
7 |
118,128,897 (GRCm39) |
missense |
probably benign |
0.42 |
|
R7361:Coq7
|
UTSW |
7 |
118,128,798 (GRCm39) |
missense |
probably benign |
0.15 |
|
R7781:Coq7
|
UTSW |
7 |
118,125,111 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8039:Coq7
|
UTSW |
7 |
118,132,469 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R8796:Coq7
|
UTSW |
7 |
118,126,640 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R9166:Coq7
|
UTSW |
7 |
118,109,365 (GRCm39) |
missense |
unknown |
|
|
RF001:Coq7
|
UTSW |
7 |
118,132,405 (GRCm39) |
missense |
probably benign |
0.05 |
|
Z1177:Coq7
|
UTSW |
7 |
118,109,372 (GRCm39) |
missense |
unknown |
|
|
| Predicted Primers |
PCR Primer
(F):5'- CGGCCTCTTGTATTAACAAAACAC -3'
(R):5'- TGAGTCCAGGTCTGACATCTG -3'
Sequencing Primer
(F):5'- AGTGATAACTGTACAGCTCCTC -3'
(R):5'- GTCCAGGTCTGACATCTGAAAATAG -3'
|
| Posted On |
2018-06-06 |
Incidental Mutation