Incidental Mutation 'IGL00920:Coa7'
| ID |
278071 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Coa7
|
| Ensembl Gene |
ENSMUSG00000048351 |
| Gene Name |
cytochrome c oxidase assembly factor 7 |
| Synonyms |
D4Ertd796e, 2010305A19Rik, Selrc1 |
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.883)
|
| Stock # |
IGL00920
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
4 |
| Chromosomal Location |
108185349-108197915 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 108195505 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glycine to Cysteine
at position 145
(G145C)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000114906
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000131656]
|
| AlphaFold |
Q921H9 |
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000073764
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000131656
AA Change: G145C
PolyPhen 2
Score 0.880 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000114906
Gene: ENSMUSG00000048351
AA Change: G145C
| Domain | Start | End | E-Value | Type |
|---|
|
SEL1
|
34 |
66 |
2.16e2 |
SMART |
|
SEL1
|
68 |
104 |
2.56e-3 |
SMART |
|
SEL1
|
108 |
146 |
1.18e-2 |
SMART |
|
SEL1
|
147 |
183 |
6.49e-5 |
SMART |
|
SEL1
|
184 |
219 |
1.09e1 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000134394
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000141423
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 25 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Cd209e |
T |
C |
8: 3,899,187 (GRCm39) |
D175G |
probably damaging |
Het |
| Cep78 |
T |
C |
19: 15,958,850 (GRCm39) |
I165V |
probably benign |
Het |
| Dpp9 |
T |
C |
17: 56,507,599 (GRCm39) |
T357A |
probably benign |
Het |
| Gm42416 |
T |
A |
18: 37,085,820 (GRCm39) |
M1K |
probably null |
Het |
| Hnrnpm |
C |
A |
17: 33,868,876 (GRCm39) |
R517L |
probably damaging |
Het |
| Kcnh5 |
A |
T |
12: 75,023,267 (GRCm39) |
D600E |
probably damaging |
Het |
| Msantd5f1 |
T |
A |
4: 73,605,679 (GRCm39) |
|
probably benign |
Het |
| Ndst4 |
A |
G |
3: 125,231,860 (GRCm39) |
D143G |
probably damaging |
Het |
| Nrros |
A |
G |
16: 31,966,438 (GRCm39) |
F14S |
probably benign |
Het |
| Or5g9 |
A |
T |
2: 85,552,583 (GRCm39) |
Y278F |
probably damaging |
Het |
| Or8g2b |
T |
C |
9: 39,751,230 (GRCm39) |
F167L |
probably benign |
Het |
| Pcdh7 |
A |
T |
5: 57,877,473 (GRCm39) |
I343F |
probably damaging |
Het |
| Piwil4 |
C |
T |
9: 14,638,733 (GRCm39) |
R264H |
probably damaging |
Het |
| Pnpt1 |
A |
G |
11: 29,107,087 (GRCm39) |
|
probably benign |
Het |
| Pycr2 |
T |
A |
1: 180,733,958 (GRCm39) |
|
probably benign |
Het |
| Rfx7 |
T |
A |
9: 72,500,638 (GRCm39) |
Y133N |
probably damaging |
Het |
| Slc17a3 |
A |
G |
13: 24,040,464 (GRCm39) |
I263V |
probably benign |
Het |
| Spink5 |
A |
T |
18: 44,136,276 (GRCm39) |
E562D |
probably damaging |
Het |
| Spty2d1 |
T |
C |
7: 46,648,735 (GRCm39) |
R65G |
probably damaging |
Het |
| Thbs1 |
C |
T |
2: 117,943,682 (GRCm39) |
T100I |
probably damaging |
Het |
| Triml1 |
T |
C |
8: 43,591,719 (GRCm39) |
N213S |
probably damaging |
Het |
| Trp53bp2 |
T |
C |
1: 182,272,219 (GRCm39) |
|
probably benign |
Het |
| Vmn2r9 |
T |
C |
5: 108,995,890 (GRCm39) |
I253V |
possibly damaging |
Het |
| Zan |
C |
T |
5: 137,462,786 (GRCm39) |
V798I |
unknown |
Het |
| Zfp608 |
C |
T |
18: 55,022,903 (GRCm39) |
M1504I |
probably benign |
Het |
|
| Other mutations in Coa7 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00919:Coa7
|
APN |
4 |
108,195,505 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
IGL00922:Coa7
|
APN |
4 |
108,195,505 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
IGL00924:Coa7
|
APN |
4 |
108,195,505 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
IGL03328:Coa7
|
APN |
4 |
108,195,479 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL03342:Coa7
|
APN |
4 |
108,189,426 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0103:Coa7
|
UTSW |
4 |
108,195,338 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
R0103:Coa7
|
UTSW |
4 |
108,195,338 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
R0890:Coa7
|
UTSW |
4 |
108,195,583 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9310:Coa7
|
UTSW |
4 |
108,195,510 (GRCm39) |
nonsense |
probably null |
|
|
R9315:Coa7
|
UTSW |
4 |
108,195,581 (GRCm39) |
missense |
probably benign |
0.02 |
|
| Posted On |
2015-04-16 |
Incidental Mutation