Mutagenetix > Incidental Mutation

Incidental Mutation 'R8163:Echs1'

633622

Institutional Source

Beutler Lab

Gene Symbol

Echs1

Ensembl Gene

ENSMUSG00000025465

Gene Name

enoyl Coenzyme A hydratase, short chain, 1, mitochondrial

Synonyms

MMRRC Submission

067589-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.912) question?

Stock #

R8163 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

139685623-139696334 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 139692357 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 130 (V130A)

Ref Sequence

ENSEMBL: ENSMUSP00000026538 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000026538] [ENSMUST00000211757]

AlphaFold

Q8BH95

Predicted Effect

possibly damaging
Transcript: ENSMUST00000026538
AA Change: V130A

PolyPhen 2 Score 0.953 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000026538
Gene: ENSMUSG00000025465
AA Change: V130A

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: 99.9%
10x: 99.4%
20x: 98.2%

Validation Efficiency

100% (53/53)

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: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9930022D16Rik	A	G	11: 109,304,883 (GRCm39)	I11V	unknown	Het
Ago3	G	T	4: 126,262,377 (GRCm39)	T391K	probably benign	Het
Asap1	A	G	15: 63,963,899 (GRCm39)	W1100R	probably damaging	Het
Bbof1	T	C	12: 84,473,536 (GRCm39)	S289P	possibly damaging	Het
Cd3d	T	C	9: 44,896,952 (GRCm39)	F109L	probably benign	Het
Cebpd	A	T	16: 15,705,841 (GRCm39)	E218V	probably damaging	Het
Cfl1	T	C	19: 5,543,528 (GRCm39)		probably benign	Het
Cpa2	A	C	6: 30,564,350 (GRCm39)	I394L	probably damaging	Het
Ddx50	C	A	10: 62,475,678 (GRCm39)	V348F	possibly damaging	Het
Dnajc28	G	A	16: 91,413,795 (GRCm39)	R150*	probably null	Het
Eif2s2	A	G	2: 154,734,621 (GRCm39)	S2P	probably benign	Het
Fastk	A	G	5: 24,649,273 (GRCm39)	I38T	probably benign	Het
Fat3	G	A	9: 15,871,055 (GRCm39)	R3779C	probably damaging	Het
Fat4	A	T	3: 39,033,881 (GRCm39)	N2511I	possibly damaging	Het
Fbxw13	G	A	9: 109,012,122 (GRCm39)	T315I	probably benign	Het
Fzd5	A	T	1: 64,774,352 (GRCm39)	Y470N	probably damaging	Het
G530012D18Rik	C	G	1: 85,504,935 (GRCm39)	D113E	unknown	Het
Gpr25	T	C	1: 136,187,596 (GRCm39)	D339G	probably damaging	Het
Igsf9b	T	A	9: 27,233,907 (GRCm39)		probably null	Het
Il5	T	A	11: 53,614,813 (GRCm39)	M125K	possibly damaging	Het
Iqub	G	A	6: 24,449,714 (GRCm39)	T717I	probably benign	Het
Katnb1	T	C	8: 95,823,014 (GRCm39)	F403S	probably damaging	Het
Krt26	T	C	11: 99,220,498 (GRCm39)	I451V	probably benign	Het
Krt88	T	C	15: 101,351,389 (GRCm39)	L132P	probably damaging	Het
Kynu	G	T	2: 43,518,966 (GRCm39)	G245V	probably damaging	Het
Lap3	C	T	5: 45,669,389 (GRCm39)	R513*	probably null	Het
Lin9	C	T	1: 180,486,691 (GRCm39)	R126W	probably damaging	Het
Lrrc37	A	T	11: 103,506,688 (GRCm39)	I1760K	unknown	Het
Lrrtm2	C	T	18: 35,346,777 (GRCm39)	R175H	probably damaging	Het
N4bp2l2	A	G	5: 150,584,774 (GRCm39)	L60P	probably damaging	Het
Ncr1	T	C	7: 4,343,828 (GRCm39)	F142S	probably damaging	Het
Nktr	TAGAAG	TAG	9: 121,579,929 (GRCm39)		probably benign	Het
Or5b95	A	G	19: 12,657,552 (GRCm39)	I27V	probably benign	Het
Parp16	T	A	9: 65,137,231 (GRCm39)	H152Q	probably damaging	Het
Plaa	C	G	4: 94,457,640 (GRCm39)	V777L	probably benign	Het
Prnp	A	G	2: 131,778,908 (GRCm39)	T187A	probably benign	Het
Pzp	T	G	6: 128,489,157 (GRCm39)	I485L	probably benign	Het
Rc3h1	T	A	1: 160,782,629 (GRCm39)	Y703N	probably damaging	Het
Rngtt	G	A	4: 33,325,109 (GRCm39)	C110Y	probably damaging	Het
Rps10	G	A	17: 27,853,085 (GRCm39)	R95C	probably benign	Het
Scn9a	T	A	2: 66,314,745 (GRCm39)	I1658F	probably damaging	Het
Sec16a	A	T	2: 26,306,433 (GRCm39)	W702R		Het
Taf6	G	T	5: 138,180,238 (GRCm39)	Q339K	possibly damaging	Het
Tbcd	C	T	11: 121,384,711 (GRCm39)	T315M	probably benign	Het
Tmem198	C	T	1: 75,459,671 (GRCm39)	P209S	possibly damaging	Het
Vmn2r78	G	A	7: 86,603,660 (GRCm39)	A613T	probably damaging	Het
Vps13c	G	A	9: 67,857,720 (GRCm39)	E2651K	probably benign	Het
Wdfy4	C	T	14: 32,873,545 (GRCm39)	V255I		Het
Zfhx3	A	G	8: 109,675,925 (GRCm39)	D2325G	probably damaging	Het
Zfp36l2	T	C	17: 84,494,551 (GRCm39)	N29D	possibly damaging	Het
Zfp692	T	A	11: 58,201,199 (GRCm39)		probably null	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
R7826:Echs1	UTSW	7	139,696,349 (GRCm39)	intron	probably benign
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'- GCCTTCACACAAGTAGCTTAGC -3'
(R):5'- GTTGGTCCATGTCTCAGCTG -3'

Sequencing Primer
(F):5'- AGTAGCTTAGCCACTGCAGC -3'
(R):5'- CCACTGTGGAGGGAAGTGC -3'

Posted On

2020-07-13