Incidental Mutation 'IGL03149:Eci2'
| ID |
411005 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Eci2
|
| Ensembl Gene |
ENSMUSG00000021417 |
| Gene Name |
enoyl-Coenzyme A delta isomerase 2 |
| Synonyms |
Peci, ACBD2, DRS1, HCA88 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.106)
|
| Stock # |
IGL03149
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
13 |
| Chromosomal Location |
35161731-35211079 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 35172296 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 146
(T146A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000129477
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000021854]
[ENSMUST00000110251]
[ENSMUST00000163280]
[ENSMUST00000170989]
[ENSMUST00000171258]
[ENSMUST00000171229]
[ENSMUST00000167036]
[ENSMUST00000170538]
[ENSMUST00000178421]
[ENSMUST00000169759]
|
| AlphaFold |
Q9WUR2 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000021854
AA Change: T146A
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
| SMART Domains |
Protein: ENSMUSP00000021854
Gene: ENSMUSG00000021417
AA Change: T146A
| 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
AA Change: T166A
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000105880
Gene: ENSMUSG00000021417
AA Change: T166A
| 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
AA Change: T146A
PolyPhen 2
Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
|
| SMART Domains |
Protein: ENSMUSP00000126500
Gene: ENSMUSG00000021417
AA Change: T146A
| 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: ENSMUST00000170989
AA Change: T146A
PolyPhen 2
Score 0.406 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000129477
Gene: ENSMUSG00000021417
AA Change: T146A
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:ACBP
|
4 |
88 |
6.9e-34 |
PFAM |
|
Pfam:ECH
|
108 |
202 |
1.2e-13 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000171258
AA Change: T146A
PolyPhen 2
Score 0.057 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000129164
Gene: ENSMUSG00000021417
AA Change: T146A
| 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: ENSMUST00000171229
AA Change: T179A
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
| SMART Domains |
Protein: ENSMUSP00000131735
Gene: ENSMUSG00000021417
AA Change: T179A
| 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: ENSMUST00000167036
AA Change: T146A
PolyPhen 2
Score 0.286 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000130076
Gene: ENSMUSG00000021417
AA Change: T146A
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:ACBP
|
4 |
88 |
6.6e-34 |
PFAM |
|
Pfam:ECH
|
108 |
191 |
2.2e-13 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000170538
AA Change: T146A
PolyPhen 2
Score 0.406 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000129428
Gene: ENSMUSG00000021417
AA Change: T146A
| 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
AA Change: T146A
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
| SMART Domains |
Protein: ENSMUSP00000137411
Gene: ENSMUSG00000021417
AA Change: T146A
| 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: ENSMUST00000171079
|
| 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 |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| 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: 56 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Arhgap10 |
A |
G |
8: 78,136,167 (GRCm39) |
|
probably benign |
Het |
| Arhgap42 |
A |
G |
9: 9,008,085 (GRCm39) |
I546T |
possibly damaging |
Het |
| Arsj |
A |
T |
3: 126,233,053 (GRCm39) |
|
probably benign |
Het |
| Ash2l |
A |
G |
8: 26,308,650 (GRCm39) |
V543A |
probably benign |
Het |
| B4galnt3 |
A |
G |
6: 120,208,555 (GRCm39) |
|
probably benign |
Het |
| Blvra |
T |
A |
2: 126,924,871 (GRCm39) |
V11E |
probably damaging |
Het |
| Calcb |
T |
C |
7: 114,319,371 (GRCm39) |
L51P |
probably damaging |
Het |
| Cd36 |
T |
A |
5: 18,025,563 (GRCm39) |
K52N |
probably benign |
Het |
| Cebpz |
T |
C |
17: 79,229,982 (GRCm39) |
N857S |
probably benign |
Het |
| Ces1b |
A |
G |
8: 93,791,502 (GRCm39) |
|
probably benign |
Het |
| Clspn |
T |
C |
4: 126,470,295 (GRCm39) |
|
probably benign |
Het |
| Cr2 |
A |
T |
1: 194,848,674 (GRCm39) |
L283H |
probably damaging |
Het |
| Ctc1 |
T |
C |
11: 68,921,987 (GRCm39) |
V811A |
possibly damaging |
Het |
| Ctsk |
T |
C |
3: 95,408,730 (GRCm39) |
S65P |
possibly damaging |
Het |
| Ddx51 |
A |
G |
5: 110,801,600 (GRCm39) |
N83D |
probably benign |
Het |
| Erbin |
T |
C |
13: 103,977,671 (GRCm39) |
N629D |
possibly damaging |
Het |
| Etfbkmt |
A |
G |
6: 149,045,781 (GRCm39) |
E45G |
probably damaging |
Het |
| Fat4 |
A |
G |
3: 39,045,834 (GRCm39) |
N3951S |
probably damaging |
Het |
| Fktn |
T |
C |
4: 53,744,653 (GRCm39) |
V311A |
probably benign |
Het |
| Garem1 |
G |
T |
18: 21,264,523 (GRCm39) |
P534T |
probably damaging |
Het |
| Gm8237 |
A |
G |
14: 5,864,451 (GRCm38) |
I37T |
probably benign |
Het |
| Ikzf5 |
T |
C |
7: 130,998,494 (GRCm39) |
K13E |
probably damaging |
Het |
| Kl |
T |
A |
5: 150,906,200 (GRCm39) |
C523* |
probably null |
Het |
| Klhl7 |
G |
A |
5: 24,364,687 (GRCm39) |
V574I |
probably benign |
Het |
| Lyst |
T |
C |
13: 13,856,029 (GRCm39) |
V2450A |
probably benign |
Het |
| Map3k6 |
A |
T |
4: 132,976,999 (GRCm39) |
I819F |
probably damaging |
Het |
| Mphosph9 |
T |
C |
5: 124,401,074 (GRCm39) |
E891G |
probably damaging |
Het |
| Myo7b |
A |
G |
18: 32,147,355 (GRCm39) |
S63P |
probably damaging |
Het |
| Ndufaf7 |
C |
T |
17: 79,252,439 (GRCm39) |
R283C |
possibly damaging |
Het |
| Nepro |
G |
T |
16: 44,547,462 (GRCm39) |
A60S |
probably damaging |
Het |
| Nop56 |
T |
C |
2: 130,119,445 (GRCm39) |
S354P |
probably damaging |
Het |
| Nwd2 |
T |
A |
5: 63,963,338 (GRCm39) |
L974H |
probably damaging |
Het |
| Or4a80 |
T |
C |
2: 89,583,172 (GRCm39) |
|
probably null |
Het |
| Or52ad1 |
A |
T |
7: 102,996,056 (GRCm39) |
H26Q |
probably benign |
Het |
| Pacsin3 |
T |
A |
2: 91,091,852 (GRCm39) |
|
probably benign |
Het |
| Parp12 |
C |
T |
6: 39,091,165 (GRCm39) |
D142N |
probably benign |
Het |
| Pcdh15 |
G |
A |
10: 74,466,527 (GRCm39) |
D1449N |
probably damaging |
Het |
| Pcsk7 |
C |
T |
9: 45,820,778 (GRCm39) |
T70M |
probably benign |
Het |
| Pld4 |
T |
C |
12: 112,733,263 (GRCm39) |
F280L |
probably benign |
Het |
| Ppm1k |
C |
A |
6: 57,501,759 (GRCm39) |
A135S |
probably damaging |
Het |
| Prkcq |
A |
T |
2: 11,237,356 (GRCm39) |
Y45F |
probably benign |
Het |
| Prom1 |
T |
A |
5: 44,187,076 (GRCm39) |
I385F |
probably damaging |
Het |
| Prss12 |
A |
G |
3: 123,299,036 (GRCm39) |
N603D |
probably benign |
Het |
| Ptbp2 |
G |
T |
3: 119,514,074 (GRCm39) |
T501K |
possibly damaging |
Het |
| Ranbp17 |
C |
A |
11: 33,193,183 (GRCm39) |
R957L |
possibly damaging |
Het |
| Rasl10a |
T |
C |
11: 5,008,429 (GRCm39) |
Y42H |
possibly damaging |
Het |
| Serpina9 |
G |
A |
12: 103,974,869 (GRCm39) |
Q95* |
probably null |
Het |
| Serpinb1b |
C |
A |
13: 33,269,275 (GRCm39) |
Q3K |
possibly damaging |
Het |
| Sgo2b |
T |
A |
8: 64,379,617 (GRCm39) |
M1072L |
probably benign |
Het |
| Slc1a5 |
T |
C |
7: 16,523,745 (GRCm39) |
V250A |
probably damaging |
Het |
| Slc30a6 |
T |
C |
17: 74,730,018 (GRCm39) |
S303P |
probably damaging |
Het |
| Tbc1d2 |
A |
T |
4: 46,637,619 (GRCm39) |
I209N |
probably benign |
Het |
| Tmc4 |
T |
A |
7: 3,670,177 (GRCm39) |
I484L |
probably benign |
Het |
| Ttll5 |
G |
A |
12: 85,965,758 (GRCm39) |
E36K |
probably damaging |
Het |
| Unc93b1 |
A |
G |
19: 3,994,041 (GRCm39) |
M391V |
probably benign |
Het |
| Xpo5 |
T |
A |
17: 46,526,740 (GRCm39) |
|
probably null |
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 |
|
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 |
|
|
R3704:Eci2
|
UTSW |
13 |
35,177,216 (GRCm39) |
splice site |
probably benign |
|
|
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 |
|
| Posted On |
2016-08-02 |
Incidental Mutation