Incidental Mutation 'IGL00818:Echdc1'
| ID |
10439 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Echdc1
|
| Ensembl Gene |
ENSMUSG00000019883 |
| Gene Name |
enoyl Coenzyme A hydratase domain containing 1 |
| Synonyms |
1700028A24Rik |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.143)
|
| Stock # |
IGL00818
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
10 |
| Chromosomal Location |
29189162-29223465 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 29193616 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Valine
at position 38
(I38V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000125553
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000020034]
[ENSMUST00000160399]
[ENSMUST00000161605]
|
| AlphaFold |
Q9D9V3 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000020034
AA Change: I61V
PolyPhen 2
Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
|
| SMART Domains |
Protein: ENSMUSP00000020034
Gene: ENSMUSG00000019883
AA Change: I61V
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:ECH_1
|
74 |
307 |
4.8e-39 |
PFAM |
|
Pfam:ECH_2
|
79 |
321 |
4.5e-24 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000160399
AA Change: I38V
PolyPhen 2
Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
|
| SMART Domains |
Protein: ENSMUSP00000125553
Gene: ENSMUSG00000019883
AA Change: I38V
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:ECH
|
49 |
293 |
1.6e-42 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000161426
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000161605
AA Change: I38V
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000125048
Gene: ENSMUSG00000019883
AA Change: I38V
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:ECH
|
49 |
165 |
4.4e-24 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000215448
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000215520
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 17 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Akap13 |
A |
G |
7: 75,259,475 (GRCm39) |
T700A |
probably benign |
Het |
| Brinp1 |
T |
A |
4: 68,681,084 (GRCm39) |
D482V |
probably damaging |
Het |
| Cmtr2 |
A |
T |
8: 110,949,732 (GRCm39) |
T681S |
probably benign |
Het |
| Dcc |
T |
A |
18: 72,088,083 (GRCm39) |
M52L |
probably benign |
Het |
| Gars1 |
G |
T |
6: 55,027,338 (GRCm39) |
G144V |
probably damaging |
Het |
| Gp2 |
T |
C |
7: 119,049,350 (GRCm39) |
T396A |
possibly damaging |
Het |
| Gpatch1 |
T |
C |
7: 34,976,238 (GRCm39) |
|
probably null |
Het |
| Mfap4 |
A |
T |
11: 61,378,607 (GRCm39) |
Q209L |
possibly damaging |
Het |
| Pdcd2l |
A |
T |
7: 33,884,158 (GRCm39) |
M348K |
possibly damaging |
Het |
| Prkdc |
A |
T |
16: 15,577,618 (GRCm39) |
T2391S |
possibly damaging |
Het |
| Rxrg |
C |
T |
1: 167,454,857 (GRCm39) |
|
probably benign |
Het |
| Serpinb2 |
A |
G |
1: 107,452,466 (GRCm39) |
D348G |
probably benign |
Het |
| Tbc1d30 |
G |
A |
10: 121,102,729 (GRCm39) |
|
probably benign |
Het |
| Tmtc3 |
T |
A |
10: 100,307,342 (GRCm39) |
T221S |
probably benign |
Het |
| Tro |
C |
T |
X: 149,431,357 (GRCm39) |
G1203D |
probably damaging |
Het |
| Ttn |
T |
A |
2: 76,552,092 (GRCm39) |
T31182S |
probably damaging |
Het |
| Zranb3 |
T |
C |
1: 127,960,604 (GRCm39) |
Y220C |
probably damaging |
Het |
|
| Other mutations in Echdc1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL03106:Echdc1
|
APN |
10 |
29,198,276 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03185:Echdc1
|
APN |
10 |
29,207,836 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R0016:Echdc1
|
UTSW |
10 |
29,198,417 (GRCm39) |
splice site |
probably benign |
|
|
R0016:Echdc1
|
UTSW |
10 |
29,198,417 (GRCm39) |
splice site |
probably benign |
|
|
R1325:Echdc1
|
UTSW |
10 |
29,193,544 (GRCm39) |
missense |
probably benign |
0.05 |
|
R1850:Echdc1
|
UTSW |
10 |
29,220,599 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3151:Echdc1
|
UTSW |
10 |
29,198,360 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R4540:Echdc1
|
UTSW |
10 |
29,220,578 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5310:Echdc1
|
UTSW |
10 |
29,210,204 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R6356:Echdc1
|
UTSW |
10 |
29,220,522 (GRCm39) |
splice site |
probably null |
|
|
R6569:Echdc1
|
UTSW |
10 |
29,198,280 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6606:Echdc1
|
UTSW |
10 |
29,189,711 (GRCm39) |
missense |
probably benign |
|
|
R8439:Echdc1
|
UTSW |
10 |
29,210,242 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9007:Echdc1
|
UTSW |
10 |
29,220,426 (GRCm39) |
missense |
probably damaging |
0.99 |
|
| Posted On |
2012-12-06 |
Incidental Mutation