Incidental Mutation 'IGL02318:Echs1'
ID288142
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Echs1
Ensembl Gene ENSMUSG00000025465
Gene Nameenoyl Coenzyme A hydratase, short chain, 1, mitochondrial
Synonyms
Accession Numbers
Is this an essential gene? Possibly essential (E-score: 0.609) question?
Stock #IGL02318
Quality Score
Status
Chromosome7
Chromosomal Location140105710-140116476 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 140111710 bp
ZygosityHeterozygous
Amino Acid Change Leucine to Glutamine at position 167 (L167Q)
Ref Sequence ENSEMBL: ENSMUSP00000026538 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000026538] [ENSMUST00000211757]
Predicted Effect probably damaging
Transcript: ENSMUST00000026538
AA Change: L167Q

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000026538
Gene: ENSMUSG00000025465
AA Change: L167Q

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
Coding Region Coverage
Validation Efficiency
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: 59 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700123K08Rik A G 5: 138,563,576 F116S probably damaging Het
2410089E03Rik A G 15: 8,175,025 K96E probably damaging Het
4930467E23Rik T C 8: 19,747,799 probably null Het
Abhd18 G A 3: 40,930,227 probably null Het
Akr1c6 G T 13: 4,438,497 C34F probably benign Het
Ankef1 T A 2: 136,544,775 I180N possibly damaging Het
Ap1b1 G A 11: 5,019,294 V217I probably benign Het
Arhgap27 T C 11: 103,333,163 Q608R probably benign Het
Arhgap32 A G 9: 32,259,331 T1136A probably benign Het
Ascc3 T A 10: 50,728,154 Y1323* probably null Het
Bsx A C 9: 40,874,221 Q15P probably benign Het
Cdh20 A G 1: 104,954,039 I410V probably null Het
Col20a1 A G 2: 181,007,159 D945G probably damaging Het
Cox20 A G 1: 178,322,478 probably null Het
Cpne9 A G 6: 113,293,738 D305G possibly damaging Het
Cyp2d12 A G 15: 82,555,243 T33A probably benign Het
Dvl3 A G 16: 20,523,743 R149G possibly damaging Het
Dysf A G 6: 84,186,464 I1624V possibly damaging Het
Ect2 A T 3: 27,138,719 N358K probably benign Het
Eml4 A G 17: 83,441,366 I230V probably benign Het
Fut10 A G 8: 31,236,258 Y347C probably damaging Het
Gfm2 C A 13: 97,162,975 N401K probably damaging Het
Gm4788 T A 1: 139,781,097 E24D probably benign Het
Gm4795 C T 10: 45,006,639 noncoding transcript Het
Gm5592 C A 7: 41,286,788 T238N probably benign Het
Gm9892 T C 8: 52,196,225 noncoding transcript Het
Greb1l G T 18: 10,469,388 M134I possibly damaging Het
Grk3 A G 5: 112,937,803 Y314H probably damaging Het
Hrh2 T C 13: 54,214,650 I215T probably damaging Het
Ilkap A G 1: 91,385,238 probably null Het
Inpp4a T C 1: 37,368,303 Y233H probably damaging Het
Itgb4 G A 11: 115,988,926 V635I probably damaging Het
Lmo7 C T 14: 101,900,066 probably benign Het
Luc7l3 C T 11: 94,292,993 R440Q probably benign Het
Mis18bp1 A C 12: 65,158,741 I219S probably benign Het
Myo9b G A 8: 71,354,124 E1581K probably damaging Het
Nfs1 T A 2: 156,124,271 Q458L probably damaging Het
Numb A T 12: 83,831,918 probably null Het
Nxf1 G A 19: 8,764,150 probably null Het
Olfr134 G T 17: 38,175,686 V201L probably benign Het
Olfr67 A G 7: 103,788,268 V3A probably benign Het
Pde2a A T 7: 101,503,343 Y371F possibly damaging Het
Phlpp2 G T 8: 109,939,873 L1011F probably benign Het
Prss27 G T 17: 24,045,597 V245L probably benign Het
Rbm7 T C 9: 48,494,111 N56S probably damaging Het
Rftn1 T C 17: 50,036,970 I97V possibly damaging Het
Ric3 T C 7: 109,048,080 T178A probably damaging Het
Rock1 A G 18: 10,104,323 probably benign Het
Sall2 T C 14: 52,315,565 T56A probably damaging Het
Sgk1 T C 10: 21,995,541 S60P probably damaging Het
Smarcad1 G A 6: 65,073,239 A281T probably damaging Het
Spta1 A G 1: 174,174,463 H53R possibly damaging Het
Thbs4 T C 13: 92,763,584 D468G probably damaging Het
Tmem108 A T 9: 103,499,782 V156E probably benign Het
Tmem206 A G 1: 191,348,408 E275G possibly damaging Het
Tnfaip3 T G 10: 19,004,467 R617S probably benign Het
Traf3 A G 12: 111,237,597 M7V probably benign Het
Ubr3 T A 2: 69,979,397 I1237N probably damaging Het
Vmn2r23 T C 6: 123,741,836 V716A probably benign Het
Other mutations in Echs1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL03342:Echs1 APN 7 140110113 splice site probably benign
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
R6474:Echs1 UTSW 7 140108142 missense probably benign 0.44
R6917:Echs1 UTSW 7 140110011 missense probably benign 0.00
R6943:Echs1 UTSW 7 140108094 missense probably damaging 0.99
Posted On2015-04-16