Incidental Mutation 'R4517:Echs1'
| ID |
332951 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Echs1
|
| Ensembl Gene |
ENSMUSG00000025465 |
| Gene Name |
enoyl Coenzyme A hydratase, short chain, 1, mitochondrial |
| Synonyms |
|
| MMRRC Submission |
041761-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.912)
|
| Stock # |
R4517 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
139685623-139696334 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 139692409 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 113
(S113P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000026538
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000026538]
[ENSMUST00000211757]
|
| AlphaFold |
Q8BH95 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000026538
AA Change: S113P
PolyPhen 2
Score 0.925 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000026538
Gene: ENSMUSG00000025465
AA Change: S113P
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:ECH_1
|
42 |
290 |
3.1e-104 |
PFAM |
|
Pfam:ECH_2
|
47 |
223 |
3.8e-39 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000125337
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000147643
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000151505
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000155647
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000209908
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000210240
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000211757
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000211120
|
| Meta Mutation Damage Score |
0.0775 |
| Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.5%
- 10x: 96.7%
- 20x: 93.6%
|
| Validation Efficiency |
95% (39/41) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene functions in the second step of the mitochondrial fatty acid beta-oxidation pathway. It catalyzes the hydration of 2-trans-enoyl-coenzyme A (CoA) intermediates to L-3-hydroxyacyl-CoAs. The gene product is a member of the hydratase/isomerase superfamily. It localizes to the mitochondrial matrix. Transcript variants utilizing alternative transcription initiation sites have been described in the literature. [provided by RefSeq, Jul 2008]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 32 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ank |
A |
G |
15: 27,562,835 (GRCm39) |
H181R |
possibly damaging |
Het |
| B4galnt4 |
A |
G |
7: 140,647,635 (GRCm39) |
K408E |
probably damaging |
Het |
| Cd209a |
T |
A |
8: 3,795,525 (GRCm39) |
D123V |
probably damaging |
Het |
| Cyp4f37 |
A |
G |
17: 32,850,566 (GRCm39) |
I340V |
probably benign |
Het |
| Fap |
T |
C |
2: 62,361,059 (GRCm39) |
I391V |
probably benign |
Het |
| Glb1l |
C |
T |
1: 75,185,347 (GRCm39) |
C121Y |
probably damaging |
Het |
| Glod4 |
T |
A |
11: 76,134,397 (GRCm39) |
D25V |
probably damaging |
Het |
| Gpc5 |
T |
A |
14: 115,789,651 (GRCm39) |
N508K |
possibly damaging |
Het |
| H2-M10.3 |
C |
T |
17: 36,678,722 (GRCm39) |
|
probably null |
Het |
| Ibsp |
C |
A |
5: 104,453,863 (GRCm39) |
S67* |
probably null |
Het |
| Ifit1bl2 |
C |
T |
19: 34,607,164 (GRCm39) |
|
probably benign |
Het |
| Iqgap2 |
A |
G |
13: 95,800,569 (GRCm39) |
|
probably null |
Het |
| Kcnma1 |
A |
G |
14: 23,387,097 (GRCm39) |
S982P |
probably damaging |
Het |
| Kif5b |
T |
C |
18: 6,213,272 (GRCm39) |
S707G |
probably benign |
Het |
| Lrrk2 |
A |
G |
15: 91,589,323 (GRCm39) |
I437V |
probably benign |
Het |
| Mapkbp1 |
T |
C |
2: 119,855,545 (GRCm39) |
|
probably benign |
Het |
| Mcu |
T |
C |
10: 59,303,456 (GRCm39) |
Y127C |
probably damaging |
Het |
| Mlst8 |
T |
C |
17: 24,695,031 (GRCm39) |
Y284C |
probably damaging |
Het |
| Nr2f2 |
T |
G |
7: 70,007,870 (GRCm39) |
N204T |
probably benign |
Het |
| Or13a26 |
A |
G |
7: 140,285,004 (GRCm39) |
Y280C |
probably damaging |
Het |
| Or7a42 |
T |
A |
10: 78,791,877 (GRCm39) |
Y279* |
probably null |
Het |
| Pabir3 |
G |
A |
X: 52,382,376 (GRCm39) |
R94H |
possibly damaging |
Het |
| Pcf11 |
T |
C |
7: 92,295,696 (GRCm39) |
Y1451C |
probably damaging |
Het |
| Plekhn1 |
T |
C |
4: 156,309,988 (GRCm39) |
S109G |
probably damaging |
Het |
| Rttn |
T |
C |
18: 89,047,097 (GRCm39) |
S920P |
probably damaging |
Het |
| Rufy4 |
T |
C |
1: 74,186,822 (GRCm39) |
C537R |
probably damaging |
Het |
| Tas2r135 |
A |
T |
6: 42,383,013 (GRCm39) |
H184L |
probably benign |
Het |
| Tmem38a |
C |
T |
8: 73,326,005 (GRCm39) |
P20S |
possibly damaging |
Het |
| Ubqlnl |
C |
T |
7: 103,798,925 (GRCm39) |
V191M |
probably benign |
Het |
| Vmn2r102 |
A |
G |
17: 19,901,475 (GRCm39) |
Y534C |
probably damaging |
Het |
| Wdr62 |
A |
G |
7: 29,969,683 (GRCm39) |
V259A |
probably damaging |
Het |
| Whrn |
A |
G |
4: 63,379,517 (GRCm39) |
|
probably null |
Het |
|
| Other mutations in Echs1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02318:Echs1
|
APN |
7 |
139,691,623 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03342:Echs1
|
APN |
7 |
139,690,026 (GRCm39) |
splice site |
probably benign |
|
|
geistlische
|
UTSW |
7 |
139,692,982 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R2397:Echs1
|
UTSW |
7 |
139,692,390 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R4723:Echs1
|
UTSW |
7 |
139,690,561 (GRCm39) |
splice site |
probably benign |
|
|
R4858:Echs1
|
UTSW |
7 |
139,692,499 (GRCm39) |
unclassified |
probably benign |
|
|
R5523:Echs1
|
UTSW |
7 |
139,692,426 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5747:Echs1
|
UTSW |
7 |
139,691,725 (GRCm39) |
unclassified |
probably benign |
|
|
R6244:Echs1
|
UTSW |
7 |
139,692,982 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R6474:Echs1
|
UTSW |
7 |
139,688,055 (GRCm39) |
missense |
probably benign |
0.44 |
|
R6917:Echs1
|
UTSW |
7 |
139,689,924 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6943:Echs1
|
UTSW |
7 |
139,688,007 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7761:Echs1
|
UTSW |
7 |
139,692,378 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7826:Echs1
|
UTSW |
7 |
139,696,349 (GRCm39) |
intron |
probably benign |
|
|
R8163:Echs1
|
UTSW |
7 |
139,692,357 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R8680:Echs1
|
UTSW |
7 |
139,690,499 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8889:Echs1
|
UTSW |
7 |
139,688,031 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8892:Echs1
|
UTSW |
7 |
139,688,031 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8902:Echs1
|
UTSW |
7 |
139,690,499 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- TCACTAAGGCATCTGGGAACTC -3'
(R):5'- TGCCTGACACAGTCCTCAAC -3'
Sequencing Primer
(F):5'- ATCTGGGAACTCGCCAACG -3'
(R):5'- CCTTCTTAAAACAGATGGCTTGGTG -3'
|
| Posted On |
2015-08-18 |
Incidental Mutation