Incidental Mutation 'IGL00919:Coa7'
ID |
278068 |
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 # |
IGL00919
|
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: 24 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Arfgef1 |
A |
G |
1: 10,243,462 (GRCm39) |
V1029A |
probably damaging |
Het |
Arhgap9 |
T |
C |
10: 127,163,762 (GRCm39) |
|
probably benign |
Het |
Ccdc63 |
T |
C |
5: 122,262,982 (GRCm39) |
|
probably benign |
Het |
Cfap206 |
C |
T |
4: 34,721,562 (GRCm39) |
S162N |
probably damaging |
Het |
Ctps1 |
A |
G |
4: 120,424,545 (GRCm39) |
V23A |
probably benign |
Het |
Ehd4 |
T |
C |
2: 119,927,535 (GRCm39) |
E333G |
possibly damaging |
Het |
Espl1 |
T |
C |
15: 102,207,064 (GRCm39) |
V176A |
probably benign |
Het |
Fbxo41 |
A |
G |
6: 85,455,552 (GRCm39) |
I544T |
probably damaging |
Het |
Fut9 |
A |
G |
4: 25,620,316 (GRCm39) |
V166A |
possibly damaging |
Het |
Kirrel3 |
A |
G |
9: 34,926,549 (GRCm39) |
|
probably null |
Het |
Nell2 |
T |
A |
15: 95,281,608 (GRCm39) |
D366V |
possibly damaging |
Het |
Neurod4 |
A |
T |
10: 130,106,683 (GRCm39) |
I197N |
probably damaging |
Het |
Nlrp9c |
A |
T |
7: 26,093,481 (GRCm39) |
Y61* |
probably null |
Het |
Or4c121 |
T |
G |
2: 89,023,848 (GRCm39) |
M177L |
probably benign |
Het |
Pcdh1 |
T |
A |
18: 38,335,865 (GRCm39) |
K118* |
probably null |
Het |
Phf12 |
T |
A |
11: 77,874,166 (GRCm39) |
I10N |
probably damaging |
Het |
Ptprc |
A |
T |
1: 138,041,380 (GRCm39) |
C250S |
probably damaging |
Het |
Rtl8c |
A |
G |
X: 52,610,187 (GRCm39) |
T59A |
possibly damaging |
Het |
Serpine1 |
A |
G |
5: 137,092,376 (GRCm39) |
I377T |
probably benign |
Het |
Shank2 |
A |
T |
7: 143,965,008 (GRCm39) |
D865V |
probably damaging |
Het |
Ski |
A |
T |
4: 155,306,799 (GRCm39) |
V60E |
possibly damaging |
Het |
St7l |
T |
A |
3: 104,833,782 (GRCm39) |
L481H |
probably damaging |
Het |
Tmpo |
A |
G |
10: 90,998,662 (GRCm39) |
I375T |
probably damaging |
Het |
Ubr5 |
T |
C |
15: 38,041,086 (GRCm39) |
D266G |
probably damaging |
Het |
|
Other mutations in Coa7 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00920: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 |