Incidental Mutation 'IGL00391:Coq9'
ID |
6213 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Coq9
|
Ensembl Gene |
ENSMUSG00000031782 |
Gene Name |
coenzyme Q9 |
Synonyms |
2310005O14Rik |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.202)
|
Stock # |
IGL00391
|
Quality Score |
|
Status
|
|
Chromosome |
8 |
Chromosomal Location |
95565041-95581523 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 95577145 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Lysine to Methionine
at position 170
(K170M)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000124695
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000034234]
[ENSMUST00000159871]
|
AlphaFold |
Q8K1Z0 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000034234
AA Change: K170M
PolyPhen 2
Score 0.914 (Sensitivity: 0.81; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000034234 Gene: ENSMUSG00000031782 AA Change: K170M
Domain | Start | End | E-Value | Type |
low complexity region
|
9 |
24 |
N/A |
INTRINSIC |
low complexity region
|
46 |
66 |
N/A |
INTRINSIC |
low complexity region
|
83 |
92 |
N/A |
INTRINSIC |
low complexity region
|
117 |
135 |
N/A |
INTRINSIC |
Pfam:COQ9
|
205 |
281 |
1.6e-39 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000159424
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000159638
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000159871
AA Change: K170M
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
SMART Domains |
Protein: ENSMUSP00000124695 Gene: ENSMUSG00000031782 AA Change: K170M
Domain | Start | End | E-Value | Type |
low complexity region
|
9 |
24 |
N/A |
INTRINSIC |
low complexity region
|
46 |
66 |
N/A |
INTRINSIC |
low complexity region
|
83 |
92 |
N/A |
INTRINSIC |
low complexity region
|
117 |
135 |
N/A |
INTRINSIC |
Pfam:COQ9
|
196 |
246 |
1.3e-20 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000160364
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000160779
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000161208
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000211859
|
Coding Region Coverage |
|
Validation Efficiency |
|
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This locus represents a mitochondrial ubiquinone biosynthesis gene. The encoded protein is likely necessary for biosynthesis of coenzyme Q10, as mutations at this locus have been associated with autosomal-recessive neonatal-onset primary coenzyme Q10 deficiency.[provided by RefSeq, Sep 2010] PHENOTYPE: Mice homozygous for a knock-in allele exhibit premature death, encephalomyopathy, hair loss, weight loss, demyelination, cardiac fibrosis and abnromal mitochondrial function. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 25 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adam34l |
A |
T |
8: 44,078,666 (GRCm39) |
F519L |
probably damaging |
Het |
Adgrl3 |
G |
A |
5: 81,872,071 (GRCm39) |
V990M |
probably damaging |
Het |
Ap4b1 |
A |
G |
3: 103,728,858 (GRCm39) |
T499A |
probably benign |
Het |
Cacna2d4 |
T |
C |
6: 119,314,894 (GRCm39) |
|
probably benign |
Het |
Ccr5 |
T |
A |
9: 123,924,443 (GRCm39) |
D15E |
possibly damaging |
Het |
Clca4b |
A |
G |
3: 144,621,322 (GRCm39) |
V584A |
possibly damaging |
Het |
Cmtr1 |
T |
C |
17: 29,893,236 (GRCm39) |
M85T |
probably damaging |
Het |
Col6a3 |
T |
A |
1: 90,755,977 (GRCm39) |
H104L |
probably damaging |
Het |
Elmod1 |
A |
G |
9: 53,831,682 (GRCm39) |
|
probably null |
Het |
Fam47e |
A |
C |
5: 92,727,522 (GRCm39) |
E143D |
probably damaging |
Het |
Faxc |
A |
G |
4: 21,948,725 (GRCm39) |
K146E |
probably damaging |
Het |
Myo7b |
A |
C |
18: 32,154,609 (GRCm39) |
|
probably benign |
Het |
Nmur1 |
G |
A |
1: 86,314,193 (GRCm39) |
R381C |
probably damaging |
Het |
Nsd2 |
T |
G |
5: 34,013,077 (GRCm39) |
D469E |
probably damaging |
Het |
Osbpl6 |
G |
A |
2: 76,420,783 (GRCm39) |
C786Y |
probably damaging |
Het |
Osgin2 |
T |
C |
4: 16,006,439 (GRCm39) |
Y85C |
probably damaging |
Het |
Otof |
A |
G |
5: 30,532,967 (GRCm39) |
C1587R |
probably damaging |
Het |
Plaat5 |
A |
T |
19: 7,596,631 (GRCm39) |
|
probably benign |
Het |
Plekha2 |
A |
G |
8: 25,547,343 (GRCm39) |
V247A |
probably damaging |
Het |
Plppr5 |
A |
T |
3: 117,465,592 (GRCm39) |
N281I |
possibly damaging |
Het |
Popdc3 |
A |
G |
10: 45,193,922 (GRCm39) |
|
probably null |
Het |
Ppp1r12a |
A |
G |
10: 108,034,709 (GRCm39) |
N85D |
probably damaging |
Het |
Serpinb8 |
A |
G |
1: 107,534,714 (GRCm39) |
S262G |
probably benign |
Het |
Sspo |
G |
A |
6: 48,474,320 (GRCm39) |
G4780R |
probably damaging |
Het |
Ush2a |
A |
G |
1: 188,648,258 (GRCm39) |
E4621G |
probably damaging |
Het |
|
Other mutations in Coq9 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00909:Coq9
|
APN |
8 |
95,578,530 (GRCm39) |
missense |
possibly damaging |
0.94 |
R1144:Coq9
|
UTSW |
8 |
95,569,251 (GRCm39) |
missense |
probably benign |
0.03 |
R2897:Coq9
|
UTSW |
8 |
95,579,752 (GRCm39) |
missense |
probably damaging |
1.00 |
R2898:Coq9
|
UTSW |
8 |
95,579,752 (GRCm39) |
missense |
probably damaging |
1.00 |
R4436:Coq9
|
UTSW |
8 |
95,579,743 (GRCm39) |
missense |
probably benign |
0.00 |
R4578:Coq9
|
UTSW |
8 |
95,580,234 (GRCm39) |
missense |
probably benign |
0.03 |
R4884:Coq9
|
UTSW |
8 |
95,579,822 (GRCm39) |
missense |
probably benign |
0.14 |
R6268:Coq9
|
UTSW |
8 |
95,576,862 (GRCm39) |
missense |
probably benign |
0.22 |
R6460:Coq9
|
UTSW |
8 |
95,579,814 (GRCm39) |
missense |
probably damaging |
0.99 |
R6902:Coq9
|
UTSW |
8 |
95,577,180 (GRCm39) |
missense |
probably benign |
0.02 |
R7767:Coq9
|
UTSW |
8 |
95,577,214 (GRCm39) |
missense |
probably benign |
0.05 |
R7981:Coq9
|
UTSW |
8 |
95,569,285 (GRCm39) |
missense |
probably benign |
|
R7994:Coq9
|
UTSW |
8 |
95,579,785 (GRCm39) |
missense |
probably benign |
0.18 |
R8956:Coq9
|
UTSW |
8 |
95,576,886 (GRCm39) |
missense |
probably benign |
0.02 |
|
Posted On |
2012-04-20 |