Incidental Mutation 'R3704:Eci2'
| ID |
258670 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Eci2
|
| Ensembl Gene |
ENSMUSG00000021417 |
| Gene Name |
enoyl-Coenzyme A delta isomerase 2 |
| Synonyms |
Peci, ACBD2, DRS1, HCA88 |
| MMRRC Submission |
040697-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.106)
|
| Stock # |
R3704 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
13 |
| Chromosomal Location |
35161731-35211079 bp(-) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
A to G
at 35177216 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000137411
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000021854]
[ENSMUST00000110251]
[ENSMUST00000163280]
[ENSMUST00000171229]
[ENSMUST00000170538]
[ENSMUST00000178421]
[ENSMUST00000170989]
[ENSMUST00000171258]
[ENSMUST00000169759]
[ENSMUST00000167036]
|
| AlphaFold |
Q9WUR2 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000021854
|
| SMART Domains |
Protein: ENSMUSP00000021854
Gene: ENSMUSG00000021417
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:ACBP
|
4 |
88 |
2.2e-33 |
PFAM |
|
Pfam:ECH
|
108 |
354 |
1.4e-42 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000084345
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000110251
|
| SMART Domains |
Protein: ENSMUSP00000105880
Gene: ENSMUSG00000021417
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:ACBP
|
24 |
108 |
1.7e-33 |
PFAM |
|
Pfam:ECH
|
128 |
374 |
1.2e-42 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000130003
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000163280
|
| SMART Domains |
Protein: ENSMUSP00000126500
Gene: ENSMUSG00000021417
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:ACBP
|
4 |
88 |
8e-34 |
PFAM |
|
Pfam:ECH
|
108 |
213 |
1.6e-18 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000164421
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000166109
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000171229
|
| SMART Domains |
Protein: ENSMUSP00000131735
Gene: ENSMUSG00000021417
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:ACBP
|
38 |
118 |
3e-32 |
PFAM |
|
Pfam:ECH_1
|
143 |
390 |
3.8e-42 |
PFAM |
|
Pfam:ECH_2
|
148 |
389 |
6e-21 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000170538
|
| SMART Domains |
Protein: ENSMUSP00000129428
Gene: ENSMUSG00000021417
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:ACBP
|
4 |
88 |
9.1e-34 |
PFAM |
|
Pfam:ECH
|
108 |
228 |
1.2e-18 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000178421
|
| SMART Domains |
Protein: ENSMUSP00000137411
Gene: ENSMUSG00000021417
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:ACBP
|
4 |
88 |
2.2e-33 |
PFAM |
|
Pfam:ECH
|
108 |
354 |
1.4e-42 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000170989
|
| SMART Domains |
Protein: ENSMUSP00000129477
Gene: ENSMUSG00000021417
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:ACBP
|
4 |
88 |
6.9e-34 |
PFAM |
|
Pfam:ECH
|
108 |
202 |
1.2e-13 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000171079
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000171258
|
| SMART Domains |
Protein: ENSMUSP00000129164
Gene: ENSMUSG00000021417
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:ACBP
|
4 |
88 |
4.5e-34 |
PFAM |
|
Pfam:ECH
|
108 |
170 |
2e-12 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000169759
|
| SMART Domains |
Protein: ENSMUSP00000130283
Gene: ENSMUSG00000021417
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:ACBP
|
4 |
88 |
1.7e-34 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000167036
|
| SMART Domains |
Protein: ENSMUSP00000130076
Gene: ENSMUSG00000021417
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:ACBP
|
4 |
88 |
6.6e-34 |
PFAM |
|
Pfam:ECH
|
108 |
191 |
2.2e-13 |
PFAM |
|
| Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.3%
- 10x: 96.4%
- 20x: 91.8%
|
| Validation Efficiency |
100% (49/49) |
| 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 protein encoded is a key mitochondrial enzyme involved in beta-oxidation of unsaturated fatty acids. It catalyzes the transformation of 3-cis and 3-trans-enoyl-CoA esters arising during the stepwise degradation of cis-, mono-, and polyunsaturated fatty acids to the 2-trans-enoyl-CoA intermediates. Alternatively spliced transcript variants have been described. [provided by RefSeq, Aug 2011]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 42 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 9930111J21Rik1 |
T |
C |
11: 48,838,803 (GRCm39) |
T595A |
possibly damaging |
Het |
| Akap13 |
T |
C |
7: 75,316,298 (GRCm39) |
C585R |
probably damaging |
Het |
| Akr1b10 |
G |
T |
6: 34,371,689 (GRCm39) |
D285Y |
probably damaging |
Het |
| Akr1b10 |
A |
G |
6: 34,371,690 (GRCm39) |
D257G |
probably benign |
Het |
| Ankrd17 |
A |
T |
5: 90,391,828 (GRCm39) |
N1838K |
possibly damaging |
Het |
| Asap3 |
TGAGGAGGAGGAGGAGGA |
TGAGGAGGAGGAGGAGGAGGA |
4: 135,968,552 (GRCm39) |
|
probably benign |
Het |
| Bcap29 |
T |
C |
12: 31,667,151 (GRCm39) |
H170R |
probably benign |
Het |
| Brwd3 |
A |
G |
X: 107,804,021 (GRCm39) |
|
probably benign |
Het |
| Capn1 |
T |
C |
19: 6,057,401 (GRCm39) |
E349G |
probably damaging |
Het |
| Cd27 |
C |
T |
6: 125,210,361 (GRCm39) |
C222Y |
probably damaging |
Het |
| Cdh12 |
C |
A |
15: 21,583,912 (GRCm39) |
T584K |
probably damaging |
Het |
| Col13a1 |
A |
G |
10: 61,703,608 (GRCm39) |
|
probably null |
Het |
| Col22a1 |
T |
C |
15: 71,842,156 (GRCm39) |
T443A |
probably damaging |
Het |
| Crisp3 |
A |
G |
17: 40,546,848 (GRCm39) |
|
probably benign |
Het |
| Cubn |
T |
A |
2: 13,355,754 (GRCm39) |
H1826L |
probably damaging |
Het |
| Fat2 |
A |
C |
11: 55,200,476 (GRCm39) |
F866C |
probably damaging |
Het |
| Fbxl7 |
C |
A |
15: 26,543,841 (GRCm39) |
G269C |
probably damaging |
Het |
| Hjurp |
G |
C |
1: 88,204,937 (GRCm39) |
|
probably benign |
Het |
| Ifi35 |
G |
A |
11: 101,339,430 (GRCm39) |
M1I |
probably null |
Het |
| Jarid2 |
A |
G |
13: 45,055,831 (GRCm39) |
T308A |
probably benign |
Het |
| Kcnq3 |
A |
G |
15: 65,893,588 (GRCm39) |
|
probably null |
Het |
| Kcnt2 |
C |
T |
1: 140,461,706 (GRCm39) |
T819M |
probably damaging |
Het |
| Kifc3 |
G |
A |
8: 95,830,656 (GRCm39) |
|
probably benign |
Het |
| Mill1 |
A |
G |
7: 17,996,978 (GRCm39) |
T190A |
possibly damaging |
Het |
| Mosmo |
A |
G |
7: 120,329,828 (GRCm39) |
I150V |
probably damaging |
Het |
| Nemf |
C |
A |
12: 69,377,904 (GRCm39) |
D566Y |
probably damaging |
Het |
| Nisch |
A |
G |
14: 30,898,702 (GRCm39) |
|
probably benign |
Het |
| Or8b101 |
T |
A |
9: 38,020,299 (GRCm39) |
F106I |
possibly damaging |
Het |
| Paip2 |
A |
G |
18: 35,743,974 (GRCm39) |
T9A |
probably benign |
Het |
| Pde5a |
T |
C |
3: 122,572,668 (GRCm39) |
S318P |
probably benign |
Het |
| Plcd1 |
T |
C |
9: 118,905,277 (GRCm39) |
I145V |
possibly damaging |
Het |
| Prl2c2 |
C |
T |
13: 13,176,810 (GRCm39) |
R37H |
probably damaging |
Het |
| Raet1e |
A |
G |
10: 22,056,744 (GRCm39) |
T107A |
probably benign |
Het |
| Reps1 |
T |
G |
10: 17,983,428 (GRCm39) |
F424V |
probably damaging |
Het |
| Skint6 |
A |
T |
4: 112,993,669 (GRCm39) |
V401D |
possibly damaging |
Het |
| Srgn |
T |
C |
10: 62,333,609 (GRCm39) |
D56G |
probably damaging |
Het |
| Tmem63a |
G |
A |
1: 180,790,679 (GRCm39) |
D446N |
possibly damaging |
Het |
| Ttn |
A |
T |
2: 76,662,124 (GRCm39) |
|
probably benign |
Het |
| Ugt2b37 |
A |
T |
5: 87,390,846 (GRCm39) |
F340L |
possibly damaging |
Het |
| Xirp1 |
T |
A |
9: 120,016,907 (GRCm38) |
Q970L |
probably benign |
Het |
| Zfr2 |
T |
G |
10: 81,081,913 (GRCm39) |
V493G |
probably benign |
Het |
| Zmat4 |
A |
G |
8: 24,287,430 (GRCm39) |
R59G |
probably benign |
Het |
|
| Other mutations in Eci2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01012:Eci2
|
APN |
13 |
35,174,312 (GRCm39) |
nonsense |
probably null |
|
|
IGL02057:Eci2
|
APN |
13 |
35,174,759 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02141:Eci2
|
APN |
13 |
35,162,656 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL03149:Eci2
|
APN |
13 |
35,172,296 (GRCm39) |
missense |
probably benign |
0.41 |
|
BB001:Eci2
|
UTSW |
13 |
35,177,053 (GRCm39) |
nonsense |
probably null |
|
|
BB011:Eci2
|
UTSW |
13 |
35,177,053 (GRCm39) |
nonsense |
probably null |
|
|
R1175:Eci2
|
UTSW |
13 |
35,177,087 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1488:Eci2
|
UTSW |
13 |
35,161,916 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2110:Eci2
|
UTSW |
13 |
35,174,699 (GRCm39) |
critical splice donor site |
probably null |
|
|
R2111:Eci2
|
UTSW |
13 |
35,174,699 (GRCm39) |
critical splice donor site |
probably null |
|
|
R5342:Eci2
|
UTSW |
13 |
35,162,707 (GRCm39) |
missense |
probably benign |
0.31 |
|
R5701:Eci2
|
UTSW |
13 |
35,174,250 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R6027:Eci2
|
UTSW |
13 |
35,169,930 (GRCm39) |
splice site |
probably null |
|
|
R6218:Eci2
|
UTSW |
13 |
35,177,048 (GRCm39) |
splice site |
probably null |
|
|
R6246:Eci2
|
UTSW |
13 |
35,174,181 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6357:Eci2
|
UTSW |
13 |
35,177,082 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R7924:Eci2
|
UTSW |
13 |
35,177,053 (GRCm39) |
nonsense |
probably null |
|
|
R8410:Eci2
|
UTSW |
13 |
35,162,018 (GRCm39) |
missense |
probably benign |
|
|
R8783:Eci2
|
UTSW |
13 |
35,174,180 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- TACCTGCTTGTACAGTGCATAG -3'
(R):5'- GGGAAGTTGCTTACTTAGGGAAAC -3'
Sequencing Primer
(F):5'- CAGTGCATAGAGTCTTAGCTTCAC -3'
(R):5'- CGAGACAGGGTTTCTCTGTATAGCC -3'
|
| Posted On |
2015-01-23 |
Incidental Mutation