Incidental Mutation 'R5747:Echs1'
ID 445820
Institutional Source Beutler Lab
Gene Symbol Echs1
Ensembl Gene ENSMUSG00000025465
Gene Name enoyl Coenzyme A hydratase, short chain, 1, mitochondrial
Synonyms
MMRRC Submission 043354-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.897) question?
Stock # R5747 (G1)
Quality Score 225
Status Validated
Chromosome 7
Chromosomal Location 139685623-139696334 bp(-) (GRCm39)
Type of Mutation unclassified
DNA Base Change (assembly) T to C at 139691725 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000147545 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000026538] [ENSMUST00000211757]
AlphaFold Q8BH95
Predicted Effect probably benign
Transcript: ENSMUST00000026538
SMART Domains Protein: ENSMUSP00000026538
Gene: ENSMUSG00000025465

DomainStartEndE-ValueType
Pfam:ECH_1 42 290 3.1e-104 PFAM
Pfam:ECH_2 47 223 3.8e-39 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000125337
Predicted Effect noncoding transcript
Transcript: ENSMUST00000147643
Predicted Effect noncoding transcript
Transcript: ENSMUST00000151505
Predicted Effect noncoding transcript
Transcript: ENSMUST00000155647
Predicted Effect probably benign
Transcript: ENSMUST00000209908
Predicted Effect noncoding transcript
Transcript: ENSMUST00000210240
Predicted Effect noncoding transcript
Transcript: ENSMUST00000211120
Predicted Effect probably benign
Transcript: ENSMUST00000211757
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.5%
  • 20x: 95.9%
Validation Efficiency 100% (54/54)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene functions in the second step of the mitochondrial fatty acid beta-oxidation pathway. It catalyzes the hydration of 2-trans-enoyl-coenzyme A (CoA) intermediates to L-3-hydroxyacyl-CoAs. The gene product is a member of the hydratase/isomerase superfamily. It localizes to the mitochondrial matrix. Transcript variants utilizing alternative transcription initiation sites have been described in the literature. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrb3 A T 1: 25,865,643 (GRCm39) Y67N probably damaging Het
Akap8l T C 17: 32,564,352 (GRCm39) T12A probably damaging Het
Anapc1 A G 2: 128,466,836 (GRCm39) V1620A probably benign Het
Ank2 A G 3: 126,735,400 (GRCm39) probably benign Het
Ankrd34c C T 9: 89,611,814 (GRCm39) V176M possibly damaging Het
Arhgap39 C T 15: 76,625,735 (GRCm39) D190N possibly damaging Het
Cbl A G 9: 44,112,416 (GRCm39) L93P probably damaging Het
Crebl2 C T 6: 134,828,103 (GRCm39) L92F probably damaging Het
Dclre1a A G 19: 56,529,964 (GRCm39) V791A probably damaging Het
Dzip1l T A 9: 99,521,862 (GRCm39) probably null Het
Eif1ad16 C T 12: 87,985,366 (GRCm39) C59Y possibly damaging Het
Epha4 A G 1: 77,483,520 (GRCm39) I163T probably damaging Het
Fdft1 A G 14: 63,384,288 (GRCm39) S388P probably damaging Het
Gbx2 A G 1: 89,856,437 (GRCm39) S318P probably damaging Het
Gkn1 T A 6: 87,323,319 (GRCm39) T165S probably benign Het
Gm10549 C A 18: 33,597,358 (GRCm39) probably benign Het
Gm10801 G C 2: 98,494,352 (GRCm39) R143T possibly damaging Het
Gm5093 T G 17: 46,750,916 (GRCm39) E37A possibly damaging Het
Gm527 A T 12: 64,967,620 (GRCm39) N14I probably damaging Het
Gnaz C T 10: 74,827,235 (GRCm39) probably benign Het
Grik2 T C 10: 49,399,870 (GRCm39) T287A probably benign Het
Gtf2h4 T C 17: 35,981,273 (GRCm39) Y220C possibly damaging Het
Igkv8-28 T C 6: 70,121,141 (GRCm39) E2G probably benign Het
Itgbl1 T A 14: 124,209,576 (GRCm39) Y318* probably null Het
Kcnh5 T C 12: 74,945,194 (GRCm39) E685G probably benign Het
Kctd18 A T 1: 58,001,183 (GRCm39) probably benign Het
Ldhal6b A C 17: 5,468,094 (GRCm39) V280G probably damaging Het
Ldhd T C 8: 112,355,703 (GRCm39) T182A probably damaging Het
Lman2l T C 1: 36,464,038 (GRCm39) D272G possibly damaging Het
Lrrc63 T C 14: 75,363,904 (GRCm39) T76A probably benign Het
Map3k3 A G 11: 106,041,236 (GRCm39) T402A probably benign Het
Mdga1 C T 17: 30,069,525 (GRCm39) D174N probably benign Het
Mob4 A G 1: 55,187,737 (GRCm39) M68V probably damaging Het
Or1j15 A T 2: 36,458,979 (GRCm39) Y123F probably damaging Het
Rassf8 A G 6: 145,761,541 (GRCm39) E289G probably benign Het
Rnf17 T C 14: 56,703,276 (GRCm39) probably null Het
Rp9 A G 9: 22,359,960 (GRCm39) probably benign Het
Rrm2b T C 15: 37,927,634 (GRCm39) Q92R probably benign Het
Sema6d C T 2: 124,506,867 (GRCm39) P879S probably damaging Het
Slc27a2 T A 2: 126,406,658 (GRCm39) M114K probably benign Het
Slc4a5 T A 6: 83,248,011 (GRCm39) Y521N probably damaging Het
Slc6a4 A T 11: 76,901,337 (GRCm39) N24I probably damaging Het
Spata13 T A 14: 60,984,952 (GRCm39) D815E probably benign Het
Spocd1 A G 4: 129,848,738 (GRCm39) D656G probably damaging Het
Susd1 T A 4: 59,424,108 (GRCm39) N39I probably damaging Het
Vps13d G A 4: 144,894,853 (GRCm39) T417I probably benign Het
Wdr31 C T 4: 62,381,637 (GRCm39) V65I probably damaging Het
Zfp783 T C 6: 47,925,829 (GRCm39) probably benign Het
Other mutations in Echs1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02318:Echs1 APN 7 139,691,623 (GRCm39) missense probably damaging 1.00
IGL03342:Echs1 APN 7 139,690,026 (GRCm39) splice site probably benign
geistlische UTSW 7 139,692,982 (GRCm39) missense possibly damaging 0.81
R2397:Echs1 UTSW 7 139,692,390 (GRCm39) missense possibly damaging 0.86
R4517:Echs1 UTSW 7 139,692,409 (GRCm39) missense possibly damaging 0.93
R4723:Echs1 UTSW 7 139,690,561 (GRCm39) splice site probably benign
R4858:Echs1 UTSW 7 139,692,499 (GRCm39) unclassified probably benign
R5523:Echs1 UTSW 7 139,692,426 (GRCm39) missense probably benign 0.01
R6244:Echs1 UTSW 7 139,692,982 (GRCm39) missense possibly damaging 0.81
R6474:Echs1 UTSW 7 139,688,055 (GRCm39) missense probably benign 0.44
R6917:Echs1 UTSW 7 139,689,924 (GRCm39) missense probably benign 0.00
R6943:Echs1 UTSW 7 139,688,007 (GRCm39) missense probably damaging 0.99
R7761:Echs1 UTSW 7 139,692,378 (GRCm39) missense probably damaging 1.00
R7826:Echs1 UTSW 7 139,696,349 (GRCm39) intron probably benign
R8163:Echs1 UTSW 7 139,692,357 (GRCm39) missense possibly damaging 0.95
R8680:Echs1 UTSW 7 139,690,499 (GRCm39) missense probably damaging 1.00
R8889:Echs1 UTSW 7 139,688,031 (GRCm39) missense probably damaging 1.00
R8892:Echs1 UTSW 7 139,688,031 (GRCm39) missense probably damaging 1.00
R8902:Echs1 UTSW 7 139,690,499 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- GCTAAGACTCAGGCTTCTCC -3'
(R):5'- AGGGGAGCAACATTACCCTTATG -3'

Sequencing Primer
(F):5'- TCGGATTTGAACTCAGGACC -3'
(R):5'- GGAGCAACATTACCCTTATGTTTATC -3'
Posted On 2016-11-21