Incidental Mutation 'R6396:Ech1'
ID 516003
Institutional Source Beutler Lab
Gene Symbol Ech1
Ensembl Gene ENSMUSG00000053898
Gene Name enoyl coenzyme A hydratase 1, peroxisomal
Synonyms dienoyl-CoA isomerase
MMRRC Submission 044544-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6396 (G1)
Quality Score 129.008
Status Validated
Chromosome 7
Chromosomal Location 28524763-28531664 bp(+) (GRCm39)
Type of Mutation splice site (60 bp from exon)
DNA Base Change (assembly) C to T at 28529763 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000116992 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000066264] [ENSMUST00000066723] [ENSMUST00000132376] [ENSMUST00000151547] [ENSMUST00000208971]
AlphaFold O35459
Predicted Effect probably null
Transcript: ENSMUST00000066264
SMART Domains Protein: ENSMUSP00000066092
Gene: ENSMUSG00000053898

DomainStartEndE-ValueType
Pfam:ECH_1 61 321 7.2e-50 PFAM
Pfam:ECH_2 66 258 9.6e-29 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000066723
SMART Domains Protein: ENSMUSP00000066461
Gene: ENSMUSG00000053964

DomainStartEndE-ValueType
GLECT 17 150 1.24e-59 SMART
Gal-bind_lectin 23 149 1.49e-59 SMART
low complexity region 151 162 N/A INTRINSIC
GLECT 196 326 1.49e-53 SMART
Gal-bind_lectin 202 326 2.02e-56 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000124017
Predicted Effect noncoding transcript
Transcript: ENSMUST00000125155
Predicted Effect noncoding transcript
Transcript: ENSMUST00000127093
Predicted Effect noncoding transcript
Transcript: ENSMUST00000127590
Predicted Effect probably null
Transcript: ENSMUST00000132376
SMART Domains Protein: ENSMUSP00000116992
Gene: ENSMUSG00000053898

DomainStartEndE-ValueType
Pfam:ECH 26 166 2.1e-23 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000137834
Predicted Effect probably benign
Transcript: ENSMUST00000151547
SMART Domains Protein: ENSMUSP00000141005
Gene: ENSMUSG00000053964

DomainStartEndE-ValueType
Gal-bind_lectin 1 109 4e-45 SMART
GLECT 1 110 2.3e-38 SMART
low complexity region 111 122 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000143708
Predicted Effect probably benign
Transcript: ENSMUST00000208971
Predicted Effect noncoding transcript
Transcript: ENSMUST00000154839
Meta Mutation Damage Score 0.9755 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.5%
  • 20x: 97.9%
Validation Efficiency 100% (36/36)
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 gene product shows high sequence similarity to enoyl-coenzyme A (CoA) hydratases of several species, particularly within a conserved domain characteristic of these proteins. The encoded protein, which contains a C-terminal peroxisomal targeting sequence, localizes to the peroxisome. The rat ortholog, which localizes to the matrix of both the peroxisome and mitochondria, can isomerize 3-trans,5-cis-dienoyl-CoA to 2-trans,4-trans-dienoyl-CoA, indicating that it is a delta3,5-delta2,4-dienoyl-CoA isomerase. This enzyme functions in the auxiliary step of the fatty acid beta-oxidation pathway. Expression of the rat gene is induced by peroxisome proliferators. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 35 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Arhgap35 A T 7: 16,296,224 (GRCm39) I947K probably damaging Het
B3galnt2 A T 13: 14,170,333 (GRCm39) I447F probably damaging Het
Cacna2d3 C A 14: 29,118,522 (GRCm39) V134L probably benign Het
Clcn4 C T 7: 7,297,024 (GRCm39) G145S probably damaging Het
Cndp1 A T 18: 84,650,135 (GRCm39) M186K probably benign Het
Cntn6 A G 6: 104,627,461 (GRCm39) Y98C probably damaging Het
Ctsb T C 14: 63,375,550 (GRCm39) V172A probably benign Het
Dnase1l1 C T X: 73,320,644 (GRCm39) probably null Homo
Dyrk1a C A 16: 94,472,299 (GRCm39) Q230K probably damaging Het
Fam81b T A 13: 76,399,968 (GRCm39) R97W probably damaging Het
Heatr1 A G 13: 12,420,978 (GRCm39) E423G possibly damaging Het
Hydin A T 8: 111,233,521 (GRCm39) K1786N probably damaging Het
Igf2r T C 17: 12,932,977 (GRCm39) I848M probably benign Het
Igkv10-96 G A 6: 68,608,969 (GRCm39) Q109* probably null Het
Mup6 T C 4: 60,004,837 (GRCm39) I76T possibly damaging Het
Nmt2 A G 2: 3,315,738 (GRCm39) R243G probably benign Het
Nsd1 G A 13: 55,386,602 (GRCm39) G119D probably damaging Het
Or1ad8 A G 11: 50,898,312 (GRCm39) H171R possibly damaging Het
Or4c113 A G 2: 88,885,641 (GRCm39) I43T probably benign Het
Or4c120 T G 2: 89,001,034 (GRCm39) D174A probably damaging Het
Or51ab3 C T 7: 103,201,888 (GRCm39) Q299* probably null Het
Otx1 C A 11: 21,947,037 (GRCm39) A91S probably damaging Het
Pank3 T C 11: 35,669,516 (GRCm39) V250A probably damaging Het
Pcdh10 A G 3: 45,334,495 (GRCm39) I270V possibly damaging Het
Pnp2 T A 14: 51,200,616 (GRCm39) V94E probably damaging Het
Prdm10 T C 9: 31,229,842 (GRCm39) V86A possibly damaging Het
Resf1 A G 6: 149,229,417 (GRCm39) D821G probably damaging Het
Riox1 G A 12: 83,998,087 (GRCm39) D208N possibly damaging Het
Rrp15 A G 1: 186,469,783 (GRCm39) probably null Het
Skor1 G T 9: 63,052,232 (GRCm39) P579Q probably damaging Het
Slc44a4 T A 17: 35,147,860 (GRCm39) Y481* probably null Het
Smg7 A T 1: 152,724,351 (GRCm39) V610E probably benign Het
Tlx1 A G 19: 45,144,491 (GRCm39) Q71R probably damaging Het
Vmn2r27 A T 6: 124,201,125 (GRCm39) Y277* probably null Het
Zswim2 T A 2: 83,754,062 (GRCm39) R199S probably damaging Het
Other mutations in Ech1
AlleleSourceChrCoordTypePredicted EffectPPH Score
pudgy UTSW 7 28,529,763 (GRCm39) splice site probably null
R1640:Ech1 UTSW 7 28,531,264 (GRCm39) missense probably damaging 1.00
R1797:Ech1 UTSW 7 28,531,288 (GRCm39) missense probably damaging 1.00
R3612:Ech1 UTSW 7 28,529,668 (GRCm39) missense probably damaging 1.00
R4395:Ech1 UTSW 7 28,525,671 (GRCm39) missense probably damaging 1.00
R4698:Ech1 UTSW 7 28,531,478 (GRCm39) missense probably benign 0.03
R6217:Ech1 UTSW 7 28,531,261 (GRCm39) missense possibly damaging 0.91
R6427:Ech1 UTSW 7 28,525,310 (GRCm39) missense probably benign 0.00
R6514:Ech1 UTSW 7 28,525,440 (GRCm39) missense possibly damaging 0.91
R6681:Ech1 UTSW 7 28,529,763 (GRCm39) splice site probably null
R6999:Ech1 UTSW 7 28,529,689 (GRCm39) missense probably benign 0.28
R7448:Ech1 UTSW 7 28,525,623 (GRCm39) missense probably damaging 1.00
R7544:Ech1 UTSW 7 28,525,392 (GRCm39) missense probably benign
R8104:Ech1 UTSW 7 28,524,728 (GRCm39) unclassified probably benign
R8334:Ech1 UTSW 7 28,531,248 (GRCm39) missense probably benign 0.00
R9195:Ech1 UTSW 7 28,525,446 (GRCm39) missense probably damaging 1.00
R9338:Ech1 UTSW 7 28,525,427 (GRCm39) missense probably null 0.08
Predicted Primers PCR Primer
(F):5'- TTGGGAGGACAGATTGGTTCC -3'
(R):5'- ACGGTCTTACTACTTAGCTCAGGT -3'

Sequencing Primer
(F):5'- AGGACAGATTGGTTCCTGTCC -3'
(R):5'- TATCTAGAGACCAGCCTCTGTGAG -3'
Posted On 2018-05-04