Incidental Mutation 'IGL02057:Eci2'
ID185252
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Eci2
Ensembl Gene ENSMUSG00000021417
Gene Nameenoyl-Coenzyme A delta isomerase 2
SynonymsDRS1, HCA88, ACBD2, Peci
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.131) question?
Stock #IGL02057
Quality Score
Status
Chromosome13
Chromosomal Location34977748-35027096 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 34990776 bp
ZygosityHeterozygous
Amino Acid Change Leucine to Proline at position 50 (L50P)
Ref Sequence ENSEMBL: ENSMUSP00000137411 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000021854] [ENSMUST00000110251] [ENSMUST00000163280] [ENSMUST00000167036] [ENSMUST00000169759] [ENSMUST00000170538] [ENSMUST00000170989] [ENSMUST00000171229] [ENSMUST00000171258] [ENSMUST00000178421]
Predicted Effect probably damaging
Transcript: ENSMUST00000021854
AA Change: L50P

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000021854
Gene: ENSMUSG00000021417
AA Change: L50P

DomainStartEndE-ValueType
Pfam:ACBP 4 88 2.2e-33 PFAM
Pfam:ECH 108 354 1.4e-42 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000084345
Predicted Effect possibly damaging
Transcript: ENSMUST00000110251
AA Change: L70P

PolyPhen 2 Score 0.939 (Sensitivity: 0.80; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000105880
Gene: ENSMUSG00000021417
AA Change: L70P

DomainStartEndE-ValueType
Pfam:ACBP 24 108 1.7e-33 PFAM
Pfam:ECH 128 374 1.2e-42 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000130003
Predicted Effect possibly damaging
Transcript: ENSMUST00000163280
AA Change: L50P

PolyPhen 2 Score 0.948 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000126500
Gene: ENSMUSG00000021417
AA Change: L50P

DomainStartEndE-ValueType
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 damaging
Transcript: ENSMUST00000167036
AA Change: L50P

PolyPhen 2 Score 0.975 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000130076
Gene: ENSMUSG00000021417
AA Change: L50P

DomainStartEndE-ValueType
Pfam:ACBP 4 88 6.6e-34 PFAM
Pfam:ECH 108 191 2.2e-13 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000169759
AA Change: L50P

PolyPhen 2 Score 0.939 (Sensitivity: 0.80; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000130283
Gene: ENSMUSG00000021417
AA Change: L50P

DomainStartEndE-ValueType
Pfam:ACBP 4 88 1.7e-34 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000170538
AA Change: L50P

PolyPhen 2 Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000129428
Gene: ENSMUSG00000021417
AA Change: L50P

DomainStartEndE-ValueType
Pfam:ACBP 4 88 9.1e-34 PFAM
Pfam:ECH 108 228 1.2e-18 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000170989
AA Change: L50P

PolyPhen 2 Score 0.975 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000129477
Gene: ENSMUSG00000021417
AA Change: L50P

DomainStartEndE-ValueType
Pfam:ACBP 4 88 6.9e-34 PFAM
Pfam:ECH 108 202 1.2e-13 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000171079
Predicted Effect possibly damaging
Transcript: ENSMUST00000171229
AA Change: L83P

PolyPhen 2 Score 0.939 (Sensitivity: 0.80; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000131735
Gene: ENSMUSG00000021417
AA Change: L83P

DomainStartEndE-ValueType
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 possibly damaging
Transcript: ENSMUST00000171258
AA Change: L50P

PolyPhen 2 Score 0.876 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000129164
Gene: ENSMUSG00000021417
AA Change: L50P

DomainStartEndE-ValueType
Pfam:ACBP 4 88 4.5e-34 PFAM
Pfam:ECH 108 170 2e-12 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000178421
AA Change: L50P

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000137411
Gene: ENSMUSG00000021417
AA Change: L50P

DomainStartEndE-ValueType
Pfam:ACBP 4 88 2.2e-33 PFAM
Pfam:ECH 108 354 1.4e-42 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: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ankk1 T C 9: 49,416,772 N369S probably damaging Het
Atp13a3 C T 16: 30,332,364 A1043T probably benign Het
AY358078 G A 14: 51,820,305 V287I unknown Het
Cemip T C 7: 83,987,453 E324G probably damaging Het
Ckap5 T A 2: 91,600,707 D1487E possibly damaging Het
Dscam G A 16: 96,716,073 Q879* probably null Het
Erp44 A T 4: 48,236,964 H65Q probably benign Het
Fahd1 A T 17: 24,849,596 I169N probably damaging Het
Galm T C 17: 80,181,567 I214T probably benign Het
Gipc3 T A 10: 81,343,134 N42Y probably damaging Het
Gm10696 T A 3: 94,176,355 S50C probably damaging Het
H2-Eb2 A T 17: 34,335,767 probably benign Het
Itgb3 A T 11: 104,632,348 I113F probably damaging Het
Lef1 T G 3: 131,200,402 Y342* probably null Het
Lilrb4a G A 10: 51,492,007 D168N possibly damaging Het
Olfr1023 T A 2: 85,886,931 F44I probably benign Het
Olfr623 T A 7: 103,660,653 Y199F probably damaging Het
Orc1 T G 4: 108,588,729 S15A possibly damaging Het
Pdk2 C T 11: 95,028,498 G317D probably benign Het
Rab37 T C 11: 115,160,717 S217P probably benign Het
Rere C T 4: 150,614,832 probably benign Het
Scn11a C T 9: 119,765,470 G1286S probably damaging Het
Sirt1 A G 10: 63,325,203 S357P probably damaging Het
Smpdl3b T A 4: 132,733,713 E351V probably benign Het
Sox6 C A 7: 115,550,075 G355W probably damaging Het
Srpk2 G T 5: 23,518,707 A502E probably damaging Het
Trim67 G A 8: 124,823,130 V500I probably benign Het
Ube2v2 A G 16: 15,577,058 V83A probably benign Het
Usp43 A T 11: 67,856,287 S865T probably benign Het
Vdac1 G A 11: 52,376,544 probably null Het
Vmn2r69 T A 7: 85,411,782 H198L possibly damaging Het
Vmn2r93 T C 17: 18,325,770 C635R probably damaging Het
Other mutations in Eci2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01012:Eci2 APN 13 34990329 nonsense probably null
IGL02141:Eci2 APN 13 34978673 missense probably benign 0.00
IGL03149:Eci2 APN 13 34988313 missense probably benign 0.41
R1175:Eci2 UTSW 13 34993104 missense probably damaging 1.00
R1488:Eci2 UTSW 13 34977933 missense probably benign 0.00
R2110:Eci2 UTSW 13 34990716 critical splice donor site probably null
R2111:Eci2 UTSW 13 34990716 critical splice donor site probably null
R3704:Eci2 UTSW 13 34993233 splice site probably benign
R5342:Eci2 UTSW 13 34978724 missense probably benign 0.31
R5701:Eci2 UTSW 13 34990267 missense possibly damaging 0.89
R6027:Eci2 UTSW 13 34985947 unclassified probably null
R6218:Eci2 UTSW 13 34993065 splice site probably null
R6246:Eci2 UTSW 13 34990198 missense probably damaging 1.00
R6357:Eci2 UTSW 13 34993099 missense possibly damaging 0.87
Posted On2014-05-07