Incidental Mutation 'R8410:Eci2'
| ID |
652639 |
| 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 |
067880-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.090)
|
| Stock # |
R8410 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
13 |
| Chromosomal Location |
35161731-35211079 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 35162018 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Arginine
at position 351
(K351R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000131735
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000021854]
[ENSMUST00000110251]
[ENSMUST00000171229]
[ENSMUST00000178421]
|
| AlphaFold |
Q9WUR2 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000021854
AA Change: K318R
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000021854
Gene: ENSMUSG00000021417
AA Change: K318R
| 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: ENSMUST00000110251
AA Change: K338R
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000105880
Gene: ENSMUSG00000021417
AA Change: K338R
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:ACBP
|
24 |
108 |
1.7e-33 |
PFAM |
|
Pfam:ECH
|
128 |
374 |
1.2e-42 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000171229
AA Change: K351R
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000131735
Gene: ENSMUSG00000021417
AA Change: K351R
| 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: ENSMUST00000178421
AA Change: K318R
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000137411
Gene: ENSMUSG00000021417
AA Change: K318R
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:ACBP
|
4 |
88 |
2.2e-33 |
PFAM |
|
Pfam:ECH
|
108 |
354 |
1.4e-42 |
PFAM |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.0%
|
| Validation Efficiency |
95% (40/42) |
| 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 |
|---|
| 1700001K19Rik |
A |
T |
12: 110,635,145 (GRCm39) |
M131K |
probably benign |
Het |
| Alox15 |
T |
C |
11: 70,235,753 (GRCm39) |
T569A |
probably benign |
Het |
| Arfgef1 |
A |
G |
1: 10,229,867 (GRCm39) |
V1278A |
possibly damaging |
Het |
| Armc5 |
C |
T |
7: 127,839,323 (GRCm39) |
R214C |
probably damaging |
Het |
| Asl |
A |
G |
5: 130,042,351 (GRCm39) |
F242L |
possibly damaging |
Het |
| Atoh1 |
G |
A |
6: 64,706,634 (GRCm39) |
G110S |
probably benign |
Het |
| Caskin1 |
T |
C |
17: 24,721,123 (GRCm39) |
F488L |
possibly damaging |
Het |
| Chsy1 |
T |
A |
7: 65,775,211 (GRCm39) |
L180Q |
probably damaging |
Het |
| D1Pas1 |
A |
T |
1: 186,700,512 (GRCm39) |
Q147L |
probably benign |
Het |
| D930020B18Rik |
A |
G |
10: 121,521,435 (GRCm39) |
|
probably benign |
Het |
| Dnah7b |
T |
A |
1: 46,395,819 (GRCm39) |
|
probably null |
Het |
| Dsp |
A |
G |
13: 38,380,791 (GRCm39) |
E2512G |
possibly damaging |
Het |
| Frem2 |
A |
G |
3: 53,446,598 (GRCm39) |
V2390A |
possibly damaging |
Het |
| Frmpd2 |
G |
A |
14: 33,217,624 (GRCm39) |
A40T |
probably damaging |
Het |
| Gapdhs |
G |
A |
7: 30,437,335 (GRCm39) |
P77S |
unknown |
Het |
| Heatr5a |
T |
A |
12: 51,984,903 (GRCm39) |
I637F |
probably benign |
Het |
| Jakmip1 |
G |
A |
5: 37,274,828 (GRCm39) |
V449M |
possibly damaging |
Het |
| Myh14 |
G |
T |
7: 44,282,907 (GRCm39) |
F737L |
probably damaging |
Het |
| Nbea |
A |
G |
3: 55,944,684 (GRCm39) |
V560A |
probably damaging |
Het |
| Or13n4 |
T |
A |
7: 106,423,745 (GRCm39) |
|
probably benign |
Het |
| Or2v2 |
A |
T |
11: 49,004,511 (GRCm39) |
I14N |
possibly damaging |
Het |
| Or4f4-ps1 |
T |
A |
2: 111,330,047 (GRCm39) |
M150K |
probably damaging |
Het |
| Or6x1 |
C |
T |
9: 40,098,732 (GRCm39) |
T107I |
possibly damaging |
Het |
| Prex2 |
G |
T |
1: 11,223,881 (GRCm39) |
R735L |
possibly damaging |
Het |
| Rrm2 |
T |
C |
12: 24,758,622 (GRCm39) |
S55P |
probably benign |
Het |
| Rsf1 |
CGGCGGCGG |
CGGCGGCGGGGGCGGCGG |
7: 97,229,124 (GRCm39) |
|
probably benign |
Het |
| Ruvbl2 |
T |
C |
7: 45,080,756 (GRCm39) |
I19V |
probably benign |
Het |
| Sall3 |
G |
A |
18: 81,016,969 (GRCm39) |
P320S |
probably benign |
Het |
| Slc15a5 |
A |
T |
6: 137,989,153 (GRCm39) |
M147K |
|
Het |
| St3gal5 |
A |
G |
6: 72,119,281 (GRCm39) |
D158G |
probably benign |
Het |
| Stac3 |
G |
A |
10: 127,339,199 (GRCm39) |
D103N |
probably damaging |
Het |
| Syt2 |
G |
A |
1: 134,674,602 (GRCm39) |
E347K |
possibly damaging |
Het |
| Tent5b |
A |
G |
4: 133,214,362 (GRCm39) |
Q411R |
possibly damaging |
Het |
| Ticrr |
A |
G |
7: 79,317,423 (GRCm39) |
E319G |
probably damaging |
Het |
| Ttn |
A |
G |
2: 76,539,985 (GRCm39) |
S34334P |
probably damaging |
Het |
| Uqcrb |
C |
A |
13: 67,048,850 (GRCm39) |
R100L |
unknown |
Het |
| Usp43 |
T |
G |
11: 67,747,146 (GRCm39) |
T854P |
probably damaging |
Het |
| Vmn2r102 |
T |
C |
17: 19,898,196 (GRCm39) |
Y404H |
possibly damaging |
Het |
| Wrn |
C |
T |
8: 33,759,048 (GRCm39) |
G970D |
probably damaging |
Het |
| Zfp456 |
A |
G |
13: 67,520,915 (GRCm39) |
Y27H |
probably damaging |
Het |
| Zfp516 |
G |
T |
18: 82,974,458 (GRCm39) |
G219C |
probably damaging |
Het |
| Zyx |
A |
T |
6: 42,333,384 (GRCm39) |
N437Y |
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 |
|
|
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 |
|
|
R8783:Eci2
|
UTSW |
13 |
35,174,180 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGTCCTCGAAACTGGACCTC -3'
(R):5'- AAGGCACAATAGCAGACCTG -3'
Sequencing Primer
(F):5'- TGGACCTCCCAGCCCATG -3'
(R):5'- ACACCTACTATGGTTATCTCTGTG -3'
|
| Posted On |
2020-10-20 |
Incidental Mutation