Incidental Mutation 'R6917:Echs1'
ID 539397
Institutional Source Beutler Lab
Gene Symbol Echs1
Ensembl Gene ENSMUSG00000025465
Gene Name enoyl Coenzyme A hydratase, short chain, 1, mitochondrial
Synonyms
MMRRC Submission 045038-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.897) question?
Stock # R6917 (G1)
Quality Score 225.009
Status Validated
Chromosome 7
Chromosomal Location 139685623-139696334 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to G at 139689924 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Leucine at position 239 (M239L)
Ref Sequence ENSEMBL: ENSMUSP00000026538 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000026538]
AlphaFold Q8BH95
Predicted Effect probably benign
Transcript: ENSMUST00000026538
AA Change: M239L

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000026538
Gene: ENSMUSG00000025465
AA Change: M239L

DomainStartEndE-ValueType
Pfam:ECH_1 42 290 3.1e-104 PFAM
Pfam:ECH_2 47 223 3.8e-39 PFAM
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 98.6%
  • 20x: 95.6%
Validation Efficiency 96% (45/47)
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: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abi3bp A G 16: 56,437,684 (GRCm39) probably null Het
Adcy2 A T 13: 68,768,876 (GRCm39) M1084K possibly damaging Het
Ak1 A G 2: 32,521,164 (GRCm39) Y95C possibly damaging Het
Akap6 A G 12: 53,115,951 (GRCm39) E1018G probably null Het
Ccdc175 A G 12: 72,231,679 (GRCm39) S27P probably damaging Het
Ddx31 C T 2: 28,782,421 (GRCm39) T588I probably damaging Het
Dmxl1 T C 18: 49,997,215 (GRCm39) W504R probably damaging Het
Eno1b A G 18: 48,180,656 (GRCm39) D278G probably benign Het
Eno3 A G 11: 70,552,262 (GRCm39) T305A probably benign Het
Gm5591 T A 7: 38,221,614 (GRCm39) S152C probably damaging Het
Gngt1 A G 6: 3,996,680 (GRCm39) D42G probably benign Het
Gpatch2l G A 12: 86,290,958 (GRCm39) R47H probably damaging Het
H2-Aa T C 17: 34,502,681 (GRCm39) T79A probably damaging Het
Ice1 A T 13: 70,743,013 (GRCm39) Y2116N probably damaging Het
Kdm6b A G 11: 69,297,419 (GRCm39) M311T probably benign Het
L1td1 T C 4: 98,622,268 (GRCm39) F277L probably benign Het
Lamp1 T C 8: 13,222,563 (GRCm39) I249T probably damaging Het
Ldb3 G A 14: 34,277,321 (GRCm39) A351V probably null Het
Lmo7 A G 14: 102,155,446 (GRCm39) E996G probably damaging Het
Lsr T C 7: 30,657,721 (GRCm39) D413G possibly damaging Het
Magel2 CCCTCCTCCTCCTCCTCCTCCT CCCTCCTCCTCCTCCTCCT 7: 62,027,592 (GRCm39) probably benign Het
Myo7a T C 7: 97,744,970 (GRCm39) E290G possibly damaging Het
Nos2 C T 11: 78,842,053 (GRCm39) T735M possibly damaging Het
Or10ak12 A T 4: 118,666,326 (GRCm39) L245H probably damaging Het
Or11h6 A G 14: 50,880,680 (GRCm39) K314R possibly damaging Het
Or8g36 T A 9: 39,422,495 (GRCm39) I174L probably damaging Het
Pik3c2g T C 6: 139,841,899 (GRCm39) L768P probably benign Het
Plod2 T A 9: 92,475,823 (GRCm39) V302D possibly damaging Het
Ptgdr A T 14: 45,096,067 (GRCm39) V215E possibly damaging Het
Rad51d C T 11: 82,770,159 (GRCm39) R199Q probably damaging Het
Rsrc1 C T 3: 66,901,982 (GRCm39) P44L unknown Het
Rtel1 ATT ATTTT 2: 180,980,070 (GRCm39) probably null Het
Sgip1 A G 4: 102,825,388 (GRCm39) R772G probably damaging Het
Slc19a2 C A 1: 164,088,578 (GRCm39) T141N probably damaging Het
Sp4 G T 12: 118,262,908 (GRCm39) N379K probably damaging Het
Thrap3 A G 4: 126,074,285 (GRCm39) probably benign Het
Thumpd2 T G 17: 81,351,543 (GRCm39) I293L probably benign Het
Tjp1 A G 7: 64,949,436 (GRCm39) S1649P probably damaging Het
Tssk4 A G 14: 55,889,864 (GRCm39) S326G probably benign Het
Txndc9 A C 1: 38,034,887 (GRCm39) S6A probably benign Het
Uhrf1 T C 17: 56,616,574 (GRCm39) Y131H probably damaging Het
Vnn3 A G 10: 23,741,832 (GRCm39) D379G possibly damaging Het
Vsig2 T A 9: 37,452,745 (GRCm39) S105T probably benign Het
Zfp445 A T 9: 122,691,359 (GRCm39) probably null Het
Zfp654 A T 16: 64,606,834 (GRCm39) M456K probably damaging 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
R5747:Echs1 UTSW 7 139,691,725 (GRCm39) unclassified probably benign
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
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'- CCTTGGGTCCTGGTATAAAGAG -3'
(R):5'- CTTGTTAAGGACCCAGGGAAC -3'

Sequencing Primer
(F):5'- TGGGTCCTGGTATAAAGAGATACTC -3'
(R):5'- GAACTGGCCTCTCGATGTCAC -3'
Posted On 2018-11-06