Incidental Mutation 'IGL00909:Coq9'
ID |
27998 |
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 # |
IGL00909
|
Quality Score |
|
Status
|
|
Chromosome |
8 |
Chromosomal Location |
95565041-95581523 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 95578530 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Leucine to Phenylalanine
at position 215
(L215F)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000034234
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000034234]
[ENSMUST00000159871]
|
AlphaFold |
Q8K1Z0 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000034234
AA Change: L215F
PolyPhen 2
Score 0.943 (Sensitivity: 0.80; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000034234 Gene: ENSMUSG00000031782 AA Change: L215F
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 benign
Transcript: ENSMUST00000159871
|
SMART Domains |
Protein: ENSMUSP00000124695 Gene: ENSMUSG00000031782
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: 35 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4931429L15Rik |
T |
A |
9: 46,220,250 (GRCm39) |
D94V |
possibly damaging |
Het |
Adamts20 |
T |
C |
15: 94,277,694 (GRCm39) |
Y256C |
probably damaging |
Het |
Ajm1 |
A |
G |
2: 25,469,419 (GRCm39) |
L164P |
probably damaging |
Het |
Ampd1 |
A |
C |
3: 102,995,744 (GRCm39) |
D218A |
probably benign |
Het |
Arcn1 |
T |
C |
9: 44,662,651 (GRCm39) |
N332D |
probably damaging |
Het |
Arpp21 |
T |
A |
9: 112,005,191 (GRCm39) |
I219F |
probably damaging |
Het |
Bicra |
A |
T |
7: 15,730,502 (GRCm39) |
D5E |
possibly damaging |
Het |
Birc2 |
A |
C |
9: 7,833,666 (GRCm39) |
W272G |
probably damaging |
Het |
Cd2ap |
A |
T |
17: 43,141,005 (GRCm39) |
|
probably benign |
Het |
Celsr1 |
G |
A |
15: 85,806,436 (GRCm39) |
R974W |
probably damaging |
Het |
Col4a2 |
A |
C |
8: 11,498,167 (GRCm39) |
T1659P |
possibly damaging |
Het |
Cped1 |
A |
G |
6: 22,122,426 (GRCm39) |
|
probably benign |
Het |
Elapor2 |
A |
T |
5: 9,430,282 (GRCm39) |
D64V |
probably damaging |
Het |
Gga3 |
T |
A |
11: 115,482,567 (GRCm39) |
R105W |
probably damaging |
Het |
Hmcn1 |
C |
T |
1: 150,514,620 (GRCm39) |
R3584Q |
probably benign |
Het |
Hs6st3 |
T |
A |
14: 119,376,446 (GRCm39) |
L207Q |
probably damaging |
Het |
Ift43 |
A |
G |
12: 86,208,807 (GRCm39) |
E141G |
probably damaging |
Het |
Mrps31 |
T |
G |
8: 22,917,841 (GRCm39) |
F287V |
probably damaging |
Het |
Naca |
A |
G |
10: 127,877,551 (GRCm39) |
|
probably benign |
Het |
Nrf1 |
C |
T |
6: 30,098,477 (GRCm39) |
T135M |
probably damaging |
Het |
Or5p81 |
A |
G |
7: 108,266,907 (GRCm39) |
I95V |
possibly damaging |
Het |
Pfas |
A |
T |
11: 68,894,640 (GRCm39) |
Y8* |
probably null |
Het |
Ppip5k1 |
G |
A |
2: 121,177,839 (GRCm39) |
R323W |
probably damaging |
Het |
Rasal1 |
A |
G |
5: 120,802,872 (GRCm39) |
E376G |
probably damaging |
Het |
Rfc1 |
A |
G |
5: 65,437,042 (GRCm39) |
L546P |
probably benign |
Het |
Rheb |
A |
T |
5: 25,012,073 (GRCm39) |
I129N |
probably damaging |
Het |
Scpep1 |
A |
T |
11: 88,843,303 (GRCm39) |
F52I |
probably damaging |
Het |
Six2 |
A |
T |
17: 85,995,319 (GRCm39) |
L21Q |
probably damaging |
Het |
Slit1 |
G |
T |
19: 41,590,694 (GRCm39) |
T1326K |
possibly damaging |
Het |
Spata2l |
T |
C |
8: 123,960,716 (GRCm39) |
D191G |
possibly damaging |
Het |
Susd4 |
C |
A |
1: 182,719,552 (GRCm39) |
A389D |
probably damaging |
Het |
Tcaf2 |
A |
T |
6: 42,601,510 (GRCm39) |
F850I |
probably damaging |
Het |
Teddm1b |
T |
C |
1: 153,750,391 (GRCm39) |
S67P |
probably damaging |
Het |
Tiparp |
T |
A |
3: 65,439,530 (GRCm39) |
V100D |
probably damaging |
Het |
Zdhhc14 |
A |
G |
17: 5,803,067 (GRCm39) |
H390R |
probably benign |
Het |
|
Other mutations in Coq9 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00391:Coq9
|
APN |
8 |
95,577,145 (GRCm39) |
missense |
probably damaging |
1.00 |
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 |
2013-04-17 |