Incidental Mutation 'R5342:Eci2'
ID |
422402 |
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 |
042921-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.106)
|
Stock # |
R5342 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
13 |
Chromosomal Location |
35161731-35211079 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 35162707 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamic Acid to Lysine
at position 283
(E283K)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000137411
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000021854]
[ENSMUST00000110251]
[ENSMUST00000171229]
[ENSMUST00000178421]
|
AlphaFold |
Q9WUR2 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000021854
AA Change: E283K
PolyPhen 2
Score 0.307 (Sensitivity: 0.90; Specificity: 0.89)
|
SMART Domains |
Protein: ENSMUSP00000021854 Gene: ENSMUSG00000021417 AA Change: E283K
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: E303K
PolyPhen 2
Score 0.060 (Sensitivity: 0.94; Specificity: 0.84)
|
SMART Domains |
Protein: ENSMUSP00000105880 Gene: ENSMUSG00000021417 AA Change: E303K
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 |
noncoding transcript
Transcript: ENSMUST00000164421
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000166109
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000170747
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000171079
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000171229
AA Change: E316K
PolyPhen 2
Score 0.307 (Sensitivity: 0.90; Specificity: 0.89)
|
SMART Domains |
Protein: ENSMUSP00000131735 Gene: ENSMUSG00000021417 AA Change: E316K
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: E283K
PolyPhen 2
Score 0.307 (Sensitivity: 0.90; Specificity: 0.89)
|
SMART Domains |
Protein: ENSMUSP00000137411 Gene: ENSMUSG00000021417 AA Change: E283K
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: 99.3%
- 3x: 98.8%
- 10x: 97.6%
- 20x: 96.1%
|
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: 48 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adrb3 |
A |
C |
8: 27,716,809 (GRCm39) |
Y392* |
probably null |
Het |
Arap1 |
G |
A |
7: 101,054,167 (GRCm39) |
E1330K |
probably benign |
Het |
Atg2b |
G |
T |
12: 105,625,175 (GRCm39) |
D600E |
possibly damaging |
Het |
Atp1b2 |
C |
T |
11: 69,493,654 (GRCm39) |
V142I |
probably damaging |
Het |
AW551984 |
A |
T |
9: 39,505,847 (GRCm39) |
M450K |
probably damaging |
Het |
Bcar3 |
A |
G |
3: 122,220,298 (GRCm39) |
D65G |
probably damaging |
Het |
Ccnt2 |
T |
C |
1: 127,719,470 (GRCm39) |
|
silent |
Het |
Cdca7l |
A |
G |
12: 117,840,768 (GRCm39) |
Y430C |
probably damaging |
Het |
Ces4a |
A |
G |
8: 105,872,775 (GRCm39) |
T343A |
probably benign |
Het |
Clec2g |
C |
T |
6: 128,925,714 (GRCm39) |
A41V |
probably benign |
Het |
Crybg3 |
A |
T |
16: 59,342,512 (GRCm39) |
Y2708N |
probably damaging |
Het |
Cspg4b |
T |
C |
13: 113,502,803 (GRCm39) |
|
probably null |
Het |
Dmxl1 |
A |
T |
18: 50,084,302 (GRCm39) |
E2758V |
probably damaging |
Het |
Edrf1 |
T |
A |
7: 133,253,639 (GRCm39) |
|
probably null |
Het |
Eif3b |
T |
C |
5: 140,411,035 (GRCm39) |
L162P |
probably damaging |
Het |
Ercc3 |
A |
G |
18: 32,378,648 (GRCm39) |
I210V |
probably benign |
Het |
Exoc1 |
A |
G |
5: 76,714,861 (GRCm39) |
N739S |
probably damaging |
Het |
Gm7334 |
A |
G |
17: 51,005,782 (GRCm39) |
K23E |
probably benign |
Het |
Gm7356 |
T |
G |
17: 14,221,360 (GRCm39) |
D223A |
possibly damaging |
Het |
Klhl26 |
A |
G |
8: 70,908,215 (GRCm39) |
L47P |
probably damaging |
Het |
Klhl42 |
C |
T |
6: 146,993,784 (GRCm39) |
T252I |
possibly damaging |
Het |
Morc1 |
G |
T |
16: 48,438,872 (GRCm39) |
G756W |
probably damaging |
Het |
Mroh2b |
G |
T |
15: 4,943,615 (GRCm39) |
E384* |
probably null |
Het |
Nol10 |
G |
A |
12: 17,419,621 (GRCm39) |
|
probably null |
Het |
Nxpe5 |
T |
C |
5: 138,237,503 (GRCm39) |
L9P |
probably damaging |
Het |
Or2r3 |
A |
G |
6: 42,448,836 (GRCm39) |
I92T |
probably damaging |
Het |
Or52z12 |
C |
T |
7: 103,234,035 (GRCm39) |
R269C |
probably benign |
Het |
Or7e166 |
A |
G |
9: 19,624,333 (GRCm39) |
D70G |
probably damaging |
Het |
Pak2 |
T |
C |
16: 31,863,306 (GRCm39) |
E94G |
probably damaging |
Het |
Pcdha7 |
A |
G |
18: 37,107,724 (GRCm39) |
K250E |
possibly damaging |
Het |
Pde8b |
T |
C |
13: 95,178,498 (GRCm39) |
T541A |
probably damaging |
Het |
Peg3 |
A |
T |
7: 6,712,969 (GRCm39) |
I751N |
probably damaging |
Het |
Prpsap2 |
T |
C |
11: 61,622,396 (GRCm39) |
D269G |
probably damaging |
Het |
Raver2 |
C |
A |
4: 100,959,889 (GRCm39) |
T123K |
possibly damaging |
Het |
Rpgrip1 |
G |
A |
14: 52,382,666 (GRCm39) |
D600N |
possibly damaging |
Het |
Scn2b |
A |
G |
9: 45,036,816 (GRCm39) |
Y108C |
probably damaging |
Het |
Sdr16c6 |
T |
C |
4: 4,069,923 (GRCm39) |
E139G |
probably damaging |
Het |
Sgpp2 |
A |
G |
1: 78,336,825 (GRCm39) |
I68V |
probably benign |
Het |
Sorbs2 |
T |
A |
8: 46,249,050 (GRCm39) |
I687N |
probably damaging |
Het |
Sorcs3 |
G |
A |
19: 48,784,911 (GRCm39) |
|
probably null |
Het |
Stk16 |
T |
A |
1: 75,189,609 (GRCm39) |
C174S |
probably benign |
Het |
Styxl2 |
T |
C |
1: 165,937,819 (GRCm39) |
E80G |
probably benign |
Het |
Ttll9 |
C |
A |
2: 152,833,572 (GRCm39) |
N198K |
possibly damaging |
Het |
Unc13c |
A |
T |
9: 73,838,105 (GRCm39) |
D915E |
probably benign |
Het |
Unc5b |
T |
A |
10: 60,614,046 (GRCm39) |
K268* |
probably null |
Het |
Vim |
T |
A |
2: 13,584,824 (GRCm39) |
|
probably null |
Het |
Xirp2 |
T |
A |
2: 67,343,805 (GRCm39) |
N2015K |
probably damaging |
Het |
Zfp160 |
T |
G |
17: 21,240,995 (GRCm39) |
M21R |
possibly damaging |
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 |
|
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'- TCCAGATGTCCTTTAAGCCAAC -3'
(R):5'- CAGCTTCCCCATTCCTGTGAAAG -3'
Sequencing Primer
(F):5'- CAGATGTCCTTTAAGCCAACTAGAG -3'
(R):5'- TTCCCCATTCCTGTGAAAGACAAG -3'
|
Posted On |
2016-08-04 |