Incidental Mutation 'R6474:Echs1'
Institutional Source Beutler Lab
Gene Symbol Echs1
Ensembl Gene ENSMUSG00000025465
Gene Nameenoyl Coenzyme A hydratase, short chain, 1, mitochondrial
MMRRC Submission
Accession Numbers
Is this an essential gene? Probably essential (E-score: 0.804) question?
Stock #R6474 (G1)
Quality Score225.009
Status Validated
Chromosomal Location140105710-140116476 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 140108142 bp
Amino Acid Change Methionine to Lysine at position 250 (M250K)
Ref Sequence ENSEMBL: ENSMUSP00000026538 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000026538]
Predicted Effect probably benign
Transcript: ENSMUST00000026538
AA Change: M250K

PolyPhen 2 Score 0.439 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000026538
Gene: ENSMUSG00000025465
AA Change: M250K

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
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.5%
  • 10x: 97.5%
  • 20x: 92.0%
Validation Efficiency 100% (35/35)
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: 34 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abhd8 T A 8: 71,461,715 N90Y probably damaging Het
Alkal1 T C 1: 6,389,446 V82A probably damaging Het
Ascc3 T C 10: 50,748,836 S1607P probably benign Het
Ccny A T 18: 9,345,427 L149H probably damaging Het
Clptm1 T C 7: 19,635,837 N383D possibly damaging Het
Clrn2 T A 5: 45,463,732 M156K probably benign Het
Coro2b T A 9: 62,426,628 H328L probably benign Het
Ecsit A G 9: 22,074,685 V145A possibly damaging Het
Fas G A 19: 34,316,569 G108D probably damaging Het
Folh1 A G 7: 86,775,756 W2R probably damaging Het
Gba C T 3: 89,204,081 P51L probably benign Het
Grik2 C T 10: 49,132,680 M770I probably benign Het
Hcst T C 7: 30,417,825 N74S probably damaging Het
Hdac9 T A 12: 34,431,991 probably null Het
Hsfy2 T A 1: 56,636,991 D129V probably damaging Het
Htt T C 5: 34,824,895 V941A probably benign Het
Naip5 A G 13: 100,214,663 V1279A possibly damaging Het
Neb T A 2: 52,280,612 M1683L probably benign Het
Nudt21 C T 8: 94,019,654 V139I probably benign Het
Olfr513 T C 7: 108,755,029 Y58H probably damaging Het
Pex2 A G 3: 5,561,131 F206S probably damaging Het
Plek2 C A 12: 78,896,291 R77L probably benign Het
Ppfia1 A T 7: 144,506,205 D623E possibly damaging Het
Ppm1l T A 3: 69,553,041 I317N probably damaging Het
Prkacb T A 3: 146,755,724 T36S probably damaging Het
Sphkap T A 1: 83,278,823 I115F probably damaging Het
Sprtn G T 8: 124,899,134 E95* probably null Het
St3gal1 A G 15: 67,111,346 V187A possibly damaging Het
Tcap C A 11: 98,384,177 Q46K probably benign Het
Thada T C 17: 84,443,911 I546V possibly damaging Het
Tubal3 T A 13: 3,933,107 S296T probably benign Het
Ube3a A G 7: 59,287,024 N683D probably damaging Het
Vmn2r82 T G 10: 79,379,037 L285V possibly damaging Het
Zfp871 T C 17: 32,775,673 D157G possibly damaging Het
Other mutations in Echs1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02318:Echs1 APN 7 140111710 missense probably damaging 1.00
IGL03342:Echs1 APN 7 140110113 splice site probably benign
geistlische UTSW 7 140113069 missense possibly damaging 0.81
R2397:Echs1 UTSW 7 140112477 missense possibly damaging 0.86
R4517:Echs1 UTSW 7 140112496 missense possibly damaging 0.93
R4723:Echs1 UTSW 7 140110648 splice site probably benign
R4858:Echs1 UTSW 7 140112586 unclassified probably benign
R5523:Echs1 UTSW 7 140112513 missense probably benign 0.01
R5747:Echs1 UTSW 7 140111812 unclassified probably benign
R6244:Echs1 UTSW 7 140113069 missense possibly damaging 0.81
R6917:Echs1 UTSW 7 140110011 missense probably benign 0.00
R6943:Echs1 UTSW 7 140108094 missense probably damaging 0.99
R7761:Echs1 UTSW 7 140112465 missense probably damaging 1.00
R7826:Echs1 UTSW 7 140116436 intron probably benign
R8163:Echs1 UTSW 7 140112444 missense possibly damaging 0.95
Predicted Primers PCR Primer

Sequencing Primer
Posted On2018-05-21