Incidental Mutation 'R9195:Ech1'
| ID |
697899 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ech1
|
| Ensembl Gene |
ENSMUSG00000053898 |
| Gene Name |
enoyl coenzyme A hydratase 1, peroxisomal |
| Synonyms |
dienoyl-CoA isomerase |
| MMRRC Submission |
068954-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R9195 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
28524763-28531664 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 28525446 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Proline
at position 67
(L67P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000066092
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000038572]
[ENSMUST00000066264]
[ENSMUST00000132376]
[ENSMUST00000172529]
[ENSMUST00000174548]
[ENSMUST00000174882]
|
| AlphaFold |
O35459 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000038572
|
| SMART Domains |
Protein: ENSMUSP00000049407
Gene: ENSMUSG00000015165
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
3 |
57 |
N/A |
INTRINSIC |
|
low complexity region
|
71 |
86 |
N/A |
INTRINSIC |
|
RRM
|
100 |
169 |
9.8e-9 |
SMART |
|
RRM
|
191 |
261 |
4.75e-7 |
SMART |
|
low complexity region
|
314 |
339 |
N/A |
INTRINSIC |
|
low complexity region
|
356 |
374 |
N/A |
INTRINSIC |
|
RRM
|
380 |
449 |
5.09e-7 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000066264
AA Change: L67P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000066092
Gene: ENSMUSG00000053898
AA Change: L67P
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:ECH_1
|
61 |
321 |
7.2e-50 |
PFAM |
|
Pfam:ECH_2
|
66 |
258 |
9.6e-29 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000132376
|
| SMART Domains |
Protein: ENSMUSP00000116992
Gene: ENSMUSG00000053898
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:ECH
|
26 |
166 |
2.1e-23 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000172529
|
| SMART Domains |
Protein: ENSMUSP00000133932
Gene: ENSMUSG00000015165
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:RRM
|
1 |
39 |
9e-20 |
BLAST |
|
RRM
|
61 |
131 |
4.75e-7 |
SMART |
|
low complexity region
|
184 |
209 |
N/A |
INTRINSIC |
|
low complexity region
|
226 |
244 |
N/A |
INTRINSIC |
|
RRM
|
250 |
319 |
5.09e-7 |
SMART |
|
Blast:RRM_2
|
369 |
442 |
6e-17 |
BLAST |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000174477
|
| SMART Domains |
Protein: ENSMUSP00000134734
Gene: ENSMUSG00000015165
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
4 |
49 |
N/A |
INTRINSIC |
|
low complexity region
|
63 |
78 |
N/A |
INTRINSIC |
|
RRM
|
92 |
161 |
9.8e-9 |
SMART |
|
RRM
|
183 |
253 |
4.75e-7 |
SMART |
|
low complexity region
|
339 |
368 |
N/A |
INTRINSIC |
|
low complexity region
|
385 |
403 |
N/A |
INTRINSIC |
|
RRM
|
409 |
478 |
5.09e-7 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000174548
|
| SMART Domains |
Protein: ENSMUSP00000133728
Gene: ENSMUSG00000015165
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
3 |
57 |
N/A |
INTRINSIC |
|
low complexity region
|
71 |
86 |
N/A |
INTRINSIC |
|
RRM
|
100 |
169 |
9.8e-9 |
SMART |
|
RRM
|
191 |
261 |
4.75e-7 |
SMART |
|
low complexity region
|
314 |
339 |
N/A |
INTRINSIC |
|
low complexity region
|
356 |
374 |
N/A |
INTRINSIC |
|
RRM
|
380 |
449 |
5.09e-7 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000174882
|
| SMART Domains |
Protein: ENSMUSP00000133952
Gene: ENSMUSG00000015165
| Domain | Start | End | E-Value | Type |
|---|
|
RRM
|
1 |
61 |
5.18e-1 |
SMART |
|
RRM
|
83 |
153 |
4.75e-7 |
SMART |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 98.9%
|
| Validation Efficiency |
100% (39/39) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the hydratase/isomerase superfamily. The gene product shows high sequence similarity to enoyl-coenzyme A (CoA) hydratases of several species, particularly within a conserved domain characteristic of these proteins. The encoded protein, which contains a C-terminal peroxisomal targeting sequence, localizes to the peroxisome. The rat ortholog, which localizes to the matrix of both the peroxisome and mitochondria, can isomerize 3-trans,5-cis-dienoyl-CoA to 2-trans,4-trans-dienoyl-CoA, indicating that it is a delta3,5-delta2,4-dienoyl-CoA isomerase. This enzyme functions in the auxiliary step of the fatty acid beta-oxidation pathway. Expression of the rat gene is induced by peroxisome proliferators. [provided by RefSeq, Jul 2008]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acot10 |
G |
C |
15: 20,665,517 (GRCm39) |
T408R |
probably damaging |
Het |
| Ak9 |
A |
G |
10: 41,283,479 (GRCm39) |
Y1310C |
|
Het |
| Atp6v1c1 |
T |
A |
15: 38,674,198 (GRCm39) |
F64I |
probably damaging |
Het |
| Bahcc1 |
A |
G |
11: 120,167,337 (GRCm39) |
E1246G |
probably benign |
Het |
| Brca2 |
T |
A |
5: 150,463,418 (GRCm39) |
S1061T |
possibly damaging |
Het |
| Brd10 |
A |
G |
19: 29,763,703 (GRCm39) |
I124T |
|
Het |
| Cep83 |
A |
G |
10: 94,604,801 (GRCm39) |
R505G |
possibly damaging |
Het |
| Clasp2 |
A |
G |
9: 113,671,045 (GRCm39) |
E382G |
probably benign |
Het |
| Cnksr3 |
A |
T |
10: 7,088,379 (GRCm39) |
H235Q |
probably damaging |
Het |
| Ctsh |
A |
T |
9: 89,944,815 (GRCm39) |
H90L |
probably benign |
Het |
| Cybrd1 |
G |
A |
2: 70,968,742 (GRCm39) |
G205D |
probably damaging |
Het |
| Cyfip2 |
A |
T |
11: 46,161,455 (GRCm39) |
I345N |
probably damaging |
Het |
| Ect2l |
T |
C |
10: 18,018,836 (GRCm39) |
N612S |
probably benign |
Het |
| Gm8186 |
T |
A |
17: 26,318,092 (GRCm39) |
D35V |
probably damaging |
Het |
| Ighv1-15 |
T |
C |
12: 114,621,139 (GRCm39) |
H62R |
probably benign |
Het |
| Kcns1 |
A |
T |
2: 164,009,778 (GRCm39) |
L327Q |
probably damaging |
Het |
| Lbr |
T |
C |
1: 181,663,837 (GRCm39) |
K61R |
probably benign |
Het |
| Mrpl36 |
G |
A |
13: 73,479,498 (GRCm39) |
A3T |
unknown |
Het |
| Nectin3 |
G |
A |
16: 46,279,259 (GRCm39) |
R240* |
probably null |
Het |
| Nek10 |
T |
C |
14: 14,821,139 (GRCm38) |
L35P |
probably benign |
Het |
| Nr1d1 |
A |
G |
11: 98,659,883 (GRCm39) |
V547A |
possibly damaging |
Het |
| Obscn |
A |
T |
11: 58,942,040 (GRCm39) |
I4445N |
probably damaging |
Het |
| Or51i2 |
T |
C |
7: 103,689,345 (GRCm39) |
I114T |
probably damaging |
Het |
| Pcdhgb1 |
T |
G |
18: 37,814,157 (GRCm39) |
V216G |
probably damaging |
Het |
| Pklr |
T |
C |
3: 89,048,636 (GRCm39) |
S100P |
probably damaging |
Het |
| R3hdm1 |
T |
A |
1: 128,089,975 (GRCm39) |
S70T |
probably benign |
Het |
| Rec114 |
T |
G |
9: 58,567,534 (GRCm39) |
T151P |
probably benign |
Het |
| Riok3 |
TTTCATT |
TTT |
18: 12,282,642 (GRCm39) |
|
probably null |
Het |
| Slc33a1 |
A |
G |
3: 63,871,188 (GRCm39) |
S142P |
probably damaging |
Het |
| Slc4a4 |
T |
A |
5: 89,281,055 (GRCm39) |
N407K |
possibly damaging |
Het |
| Slc5a4b |
A |
G |
10: 75,898,149 (GRCm39) |
C522R |
probably damaging |
Het |
| Tcim |
A |
T |
8: 24,928,878 (GRCm39) |
M12K |
probably damaging |
Het |
| Tenm4 |
T |
A |
7: 96,542,126 (GRCm39) |
Y1917N |
probably damaging |
Het |
| Ttll1 |
A |
G |
15: 83,373,779 (GRCm39) |
Y345H |
probably benign |
Het |
| Urb1 |
A |
G |
16: 90,589,638 (GRCm39) |
V381A |
probably benign |
Het |
| Wnt16 |
T |
C |
6: 22,297,932 (GRCm39) |
M266T |
probably benign |
Het |
| Zfyve26 |
T |
C |
12: 79,311,168 (GRCm39) |
I1562V |
probably benign |
Het |
|
| Other mutations in Ech1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
pudgy
|
UTSW |
7 |
28,529,763 (GRCm39) |
splice site |
probably null |
|
|
R1640:Ech1
|
UTSW |
7 |
28,531,264 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1797:Ech1
|
UTSW |
7 |
28,531,288 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3612:Ech1
|
UTSW |
7 |
28,529,668 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4395:Ech1
|
UTSW |
7 |
28,525,671 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4698:Ech1
|
UTSW |
7 |
28,531,478 (GRCm39) |
missense |
probably benign |
0.03 |
|
R6217:Ech1
|
UTSW |
7 |
28,531,261 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R6396:Ech1
|
UTSW |
7 |
28,529,763 (GRCm39) |
splice site |
probably null |
|
|
R6427:Ech1
|
UTSW |
7 |
28,525,310 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6514:Ech1
|
UTSW |
7 |
28,525,440 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R6681:Ech1
|
UTSW |
7 |
28,529,763 (GRCm39) |
splice site |
probably null |
|
|
R6999:Ech1
|
UTSW |
7 |
28,529,689 (GRCm39) |
missense |
probably benign |
0.28 |
|
R7448:Ech1
|
UTSW |
7 |
28,525,623 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7544:Ech1
|
UTSW |
7 |
28,525,392 (GRCm39) |
missense |
probably benign |
|
|
R8104:Ech1
|
UTSW |
7 |
28,524,728 (GRCm39) |
unclassified |
probably benign |
|
|
R8334:Ech1
|
UTSW |
7 |
28,531,248 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9338:Ech1
|
UTSW |
7 |
28,525,427 (GRCm39) |
missense |
probably null |
0.08 |
|
| Predicted Primers |
PCR Primer
(F):5'- GTCCCCATTCTAGGCTCTCAAAG -3'
(R):5'- GCAGTCCGAGTCTTTGGATATC -3'
Sequencing Primer
(F):5'- AGGCTCTCAAAGTCTCTTCCTTG -3'
(R):5'- CTTTGGATATCTTTTGGAAGCATTC -3'
|
| Posted On |
2022-02-07 |
Incidental Mutation