Mutagenetix > Incidental Mutation

Incidental Mutation 'R7826:Echs1'

602190

Institutional Source

Beutler Lab

Gene Symbol

Echs1

Ensembl Gene

ENSMUSG00000025465

Gene Name

enoyl Coenzyme A hydratase, short chain, 1, mitochondrial

Synonyms

MMRRC Submission

045880-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.897) question?

Stock #

R7826 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

139685623-139696334 bp(-) (GRCm39)

Type of Mutation

intron

DNA Base Change (assembly)

T to A at 139696349 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

Domain	Start	End	E-Value	Type
Pfam:ECH_1	42	290	3.1e-104	PFAM
Pfam:ECH_2	47	223	3.8e-39	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000209908

Predicted Effect

probably benign
Transcript: ENSMUST00000211757

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.4%

Validation Efficiency

100% (60/60)

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: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ajm1	C	A	2: 25,468,477 (GRCm39)	R478L	possibly damaging	Het
Arhgap27	T	C	11: 103,229,153 (GRCm39)	T521A	probably benign	Het
Bean1	CT	C	8: 104,908,664 (GRCm39)		probably null	Het
Btbd9	A	T	17: 30,553,301 (GRCm39)	I387N	probably benign	Het
Ccdc27	C	T	4: 154,123,958 (GRCm39)		probably null	Het
Ccdc88a	A	T	11: 29,453,563 (GRCm39)	H1642L	probably benign	Het
Cd300c2	C	T	11: 114,891,644 (GRCm39)	V77I	possibly damaging	Het
Chrnb2	A	T	3: 89,670,550 (GRCm39)	S63T	probably damaging	Het
Dlgap2	C	T	8: 14,793,410 (GRCm39)	P467L	probably benign	Het
Dnah5	C	T	15: 28,367,958 (GRCm39)	T2781M	probably damaging	Het
Donson	T	C	16: 91,485,344 (GRCm39)	D86G	possibly damaging	Het
Epha8	C	T	4: 136,663,498 (GRCm39)	M483I	probably benign	Het
Eprs1	T	G	1: 185,139,165 (GRCm39)	V850G	probably damaging	Het
Fbxw5	C	A	2: 25,392,561 (GRCm39)	C114*	probably null	Het
Gm5160	C	T	18: 14,558,129 (GRCm39)	R69C	probably benign	Het
Gpr75	A	G	11: 30,841,209 (GRCm39)	H38R	probably damaging	Het
Igsf9	T	C	1: 172,319,197 (GRCm39)	V230A	probably benign	Het
Lonp2	C	T	8: 87,435,641 (GRCm39)	P626S	probably damaging	Het
Lrrtm1	G	T	6: 77,221,095 (GRCm39)		probably null	Het
Man1a2	T	C	3: 100,489,455 (GRCm39)	E508G	probably damaging	Het
Mipep	C	A	14: 61,039,580 (GRCm39)	A203E	probably damaging	Het
Mrc1	T	A	2: 14,299,668 (GRCm39)	C753S	probably damaging	Het
Mthfr	A	G	4: 148,139,467 (GRCm39)	E568G	probably benign	Het
Naca	T	A	10: 127,879,479 (GRCm39)		probably benign	Het
Nek10	G	A	14: 14,860,846 (GRCm38)		probably null	Het
Nf2	T	C	11: 4,739,750 (GRCm39)	T419A	probably benign	Het
Npas3	A	G	12: 53,878,539 (GRCm39)	T164A	possibly damaging	Het
Nudcd3	T	A	11: 6,100,581 (GRCm39)	I124F	possibly damaging	Het
Or8g33	A	G	9: 39,337,423 (GRCm39)	*315Q	probably null	Het
Pappa2	A	T	1: 158,764,010 (GRCm39)	C500*	probably null	Het
Pcdhb18	T	A	18: 37,623,995 (GRCm39)	S442T	probably damaging	Het
Phactr4	T	C	4: 132,105,752 (GRCm39)	N105D	possibly damaging	Het
Polr1b	C	A	2: 128,967,464 (GRCm39)	F952L	probably damaging	Het
Ptprb	GAGACCCTCGGGAGCACTGCAAAGACCCTCGGGAGCACTGCAAAGACCCTCGGGAGCACTGCAAAGACCCTCGGGAGCACT	GAGACCCTCGGGAGCACTGCAAAGACCCTCGGGAGCACTGCAAAGACCCTCGGGAGCACT	10: 116,119,582 (GRCm39)		probably benign	Het
Pzp	T	C	6: 128,464,496 (GRCm39)	T1344A	probably benign	Het
Ranbp9	T	C	13: 43,573,097 (GRCm39)	I312V	possibly damaging	Het
Rsf1	A	G	7: 97,310,368 (GRCm39)		probably benign	Het
Slc6a4	A	T	11: 76,903,851 (GRCm39)	I150L	probably benign	Het
Smpd5	T	C	15: 76,180,496 (GRCm39)	S433P	probably benign	Het
Spats1	C	T	17: 45,763,644 (GRCm39)	D209N	probably damaging	Het
Spcs2	C	T	7: 99,488,984 (GRCm39)	G235R	probably damaging	Het
Sptlc3	T	C	2: 139,389,115 (GRCm39)	M165T	probably benign	Het
Synm	T	C	7: 67,385,337 (GRCm39)	D775G	probably damaging	Het
Tango6	A	G	8: 107,419,245 (GRCm39)	D264G	probably benign	Het
Tbc1d30	A	T	10: 121,132,710 (GRCm39)	L218H	probably damaging	Het
Tmem132d	A	G	5: 127,866,953 (GRCm39)	I649T	probably damaging	Het
Tmem145	T	C	7: 25,006,939 (GRCm39)	Y114H	probably damaging	Het
Triml1	A	T	8: 43,591,803 (GRCm39)	V185E	possibly damaging	Het
Ttll3	CAAAGTAA	CAAAGTAAAGTAA	6: 113,376,118 (GRCm39)		probably null	Het
Ttn	T	G	2: 76,715,220 (GRCm39)		probably benign	Het
Utrn	C	T	10: 12,277,050 (GRCm39)		probably null	Het
Uty	T	C	Y: 1,137,716 (GRCm39)	K887E	possibly damaging	Het
Zfand2b	T	C	1: 75,145,502 (GRCm39)	F3L	possibly damaging	Het
Zfp280d	C	A	9: 72,219,953 (GRCm39)	Q243K	possibly damaging	Het
Zfp418	T	C	7: 7,185,668 (GRCm39)	F544L	probably benign	Het

Other mutations in Echs1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH 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
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
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'- GATCAAGTGAGGATGCGTGC -3'
(R):5'- AGTCTGGCTTCGTAAACCGG -3'

Sequencing Primer
(F):5'- TGGAGAAACCACCCAACGTG -3'
(R):5'- GATGCAATTAACAGACTACTC -3'

Posted On

2019-12-03