Incidental Mutation 'R7771:Eci1'
ID 598604
Institutional Source Beutler Lab
Gene Symbol Eci1
Ensembl Gene ENSMUSG00000024132
Gene Name enoyl-Coenzyme A delta isomerase 1
Synonyms eci, Dci
MMRRC Submission 045827-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.114) question?
Stock # R7771 (G1)
Quality Score 225.009
Status Validated
Chromosome 17
Chromosomal Location 24645657-24658290 bp(+) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) T to A at 24652125 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Stop codon at position 49 (L49*)
Ref Sequence ENSEMBL: ENSMUSP00000024946 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000024946]
AlphaFold P42125
Predicted Effect probably null
Transcript: ENSMUST00000024946
AA Change: L49*
SMART Domains Protein: ENSMUSP00000024946
Gene: ENSMUSG00000024132
AA Change: L49*

DomainStartEndE-ValueType
low complexity region 2 20 N/A INTRINSIC
Pfam:ECH_1 39 288 3.2e-96 PFAM
Pfam:ECH_2 44 289 5.1e-14 PFAM
Meta Mutation Damage Score 0.9755 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.3%
Validation Efficiency 100% (56/56)
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, May 2010]
PHENOTYPE: Mice homozygous for disruption of this gene are normal until stressed. Starvation results in increased accumulation of triglycerides and unsaturated fatty acids in the liver and kidney. Secretion of fatty acid metabolites in the urine is greatly increased. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 57 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb11 C T 2: 69,069,535 (GRCm39) A1287T probably damaging Het
Ahnak A G 19: 8,992,411 (GRCm39) K4565R probably damaging Het
Asb13 A G 13: 3,699,463 (GRCm39) Y221C probably damaging Het
BB014433 C T 8: 15,092,395 (GRCm39) V153M probably damaging Het
Brip1 T C 11: 85,952,850 (GRCm39) E977G probably benign Het
C3 T A 17: 57,522,797 (GRCm39) D1029V probably damaging Het
Ccdc116 T C 16: 16,957,455 (GRCm39) E568G probably benign Het
Cdhr2 T C 13: 54,866,088 (GRCm39) V296A probably damaging Het
Cenpe A G 3: 134,946,702 (GRCm39) probably null Het
Cnot1 A G 8: 96,491,753 (GRCm39) V357A probably damaging Het
Coa3 A T 11: 101,169,641 (GRCm39) M38K possibly damaging Het
Cyp2d26 T C 15: 82,675,947 (GRCm39) N255S probably benign Het
Cysrt1 T C 2: 25,129,237 (GRCm39) S92G probably benign Het
D030056L22Rik A G 19: 18,690,842 (GRCm39) E52G possibly damaging Het
Derl1 T C 15: 57,743,436 (GRCm39) D97G probably damaging Het
Ebf3 A G 7: 136,911,092 (GRCm39) Y141H probably damaging Het
Gzma C T 13: 113,234,829 (GRCm39) C54Y probably damaging Het
Hydin A G 8: 111,291,717 (GRCm39) N3403S probably damaging Het
Ide T C 19: 37,275,525 (GRCm39) N495D Het
Ighv1-23 T A 12: 114,728,356 (GRCm39) Q22L probably benign Het
Itgb2l A G 16: 96,228,172 (GRCm39) C444R probably damaging Het
Kcnj3 C A 2: 55,336,949 (GRCm39) H272N probably damaging Het
Lrp6 C T 6: 134,439,579 (GRCm39) C1218Y probably damaging Het
Lrrd1 T C 5: 3,916,476 (GRCm39) M831T possibly damaging Het
Map3k11 A G 19: 5,740,636 (GRCm39) E121G probably damaging Het
Mzt1 A T 14: 99,278,012 (GRCm39) I52N probably damaging Het
Or1j11 T C 2: 36,312,156 (GRCm39) S249P possibly damaging Het
Or52z12 A G 7: 103,233,297 (GRCm39) I23V probably benign Het
Or7e166 T A 9: 19,624,767 (GRCm39) F215I probably benign Het
Pcdhb17 A C 18: 37,619,962 (GRCm39) Y584S possibly damaging Het
Per3 A T 4: 151,110,657 (GRCm39) D380E probably damaging Het
Per3 A T 4: 151,125,902 (GRCm39) L139Q probably damaging Het
Pgap6 T C 17: 26,341,047 (GRCm39) Y717H probably damaging Het
Pik3cg T C 12: 32,254,013 (GRCm39) H658R probably benign Het
Pitpnm3 G A 11: 71,952,314 (GRCm39) Q626* probably null Het
Polr3e T C 7: 120,539,801 (GRCm39) V542A probably benign Het
Rgs22 T A 15: 36,050,224 (GRCm39) H866L possibly damaging Het
Rnf150 A G 8: 83,590,832 (GRCm39) E65G probably benign Het
Sema3f C A 9: 107,569,625 (GRCm39) R100L possibly damaging Het
Skic3 A G 13: 76,283,149 (GRCm39) H792R probably benign Het
Smim18 T C 8: 34,232,370 (GRCm39) D83G possibly damaging Het
Snx13 T A 12: 35,174,527 (GRCm39) D685E probably benign Het
Stat5a A C 11: 100,754,045 (GRCm39) N125T probably benign Het
Stk24 T C 14: 121,575,045 (GRCm39) E21G probably damaging Het
Tasor A G 14: 27,189,516 (GRCm39) T923A probably damaging Het
Tlr3 C T 8: 45,856,076 (GRCm39) V35I probably benign Het
Tmprss11b A T 5: 86,809,554 (GRCm39) probably null Het
Trpm2 T C 10: 77,768,013 (GRCm39) I829V probably benign Het
Ttc39a T C 4: 109,288,647 (GRCm39) Y276H probably damaging Het
Vmn2r98 T A 17: 19,287,460 (GRCm39) probably null Het
Wdr73 G A 7: 80,542,975 (GRCm39) A211V probably benign Het
Zc3h4 T C 7: 16,163,824 (GRCm39) V673A unknown Het
Zfp382 A G 7: 29,832,760 (GRCm39) H137R probably damaging Het
Zp2 T G 7: 119,742,865 (GRCm39) D89A probably damaging Het
Zpld2 A T 4: 133,922,754 (GRCm39) N526K probably benign Het
Zranb3 A C 1: 127,960,605 (GRCm39) Y220D probably damaging Het
Zswim8 G A 14: 20,763,048 (GRCm39) V316I probably damaging Het
Other mutations in Eci1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL03123:Eci1 APN 17 24,655,300 (GRCm39) critical splice donor site probably null
R0391:Eci1 UTSW 17 24,652,234 (GRCm39) splice site probably null
R1535:Eci1 UTSW 17 24,658,064 (GRCm39) missense probably benign 0.32
R1749:Eci1 UTSW 17 24,645,721 (GRCm39) splice site probably null
R2286:Eci1 UTSW 17 24,652,203 (GRCm39) missense probably damaging 0.99
R4179:Eci1 UTSW 17 24,655,251 (GRCm39) missense probably damaging 1.00
R5656:Eci1 UTSW 17 24,656,283 (GRCm39) missense probably damaging 1.00
R6508:Eci1 UTSW 17 24,656,283 (GRCm39) missense probably damaging 1.00
R7062:Eci1 UTSW 17 24,645,714 (GRCm39) unclassified probably benign
R9632:Eci1 UTSW 17 24,645,859 (GRCm39) missense probably damaging 0.99
Predicted Primers PCR Primer
(F):5'- TGCCAGCTCCTATCTGAACAG -3'
(R):5'- TAGAGGGCTCCAGATCTTCC -3'

Sequencing Primer
(F):5'- AACTATCTCTGTAGACCAGGTTGGC -3'
(R):5'- GGGCTCCAGATCTTCCAGGTTC -3'
Posted On 2019-11-26