Mutagenetix > Incidental Mutation

Incidental Mutation 'R6244:Echs1'

505454

Institutional Source

Beutler Lab

Gene Symbol

Echs1

Ensembl Gene

ENSMUSG00000025465

Gene Name

enoyl Coenzyme A hydratase, short chain, 1, mitochondrial

Synonyms

MMRRC Submission

044435-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.912) question?

Stock #

R6244 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

139685623-139696334 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 139692982 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Histidine at position 51 (Q51H)

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: Q51H

PolyPhen 2 Score 0.809 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000026538
Gene: ENSMUSG00000025465
AA Change: Q51H

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

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

Meta Mutation Damage Score

0.1795

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.3%
20x: 95.1%

Validation Efficiency

96% (82/85)

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: 84 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
6430550D23Rik	T	C	2: 155,845,150 (GRCm39)	H113R	possibly damaging	Het
Adgrf3	A	T	5: 30,402,531 (GRCm39)	M499K	probably benign	Het
Adgrv1	G	A	13: 81,255,050 (GRCm39)	T211I	probably damaging	Het
Adss2	C	T	1: 177,604,395 (GRCm39)	E153K	probably benign	Het
Ago4	C	A	4: 126,405,280 (GRCm39)	G431V	possibly damaging	Het
Araf	G	T	X: 20,726,339 (GRCm39)	R601L	probably damaging	Homo
Atp2b4	T	A	1: 133,654,299 (GRCm39)	I769F	probably damaging	Het
Atp9a	T	C	2: 168,531,272 (GRCm39)		probably null	Het
Bltp1	T	C	3: 37,011,148 (GRCm39)	V1782A	probably benign	Het
Brap	C	A	5: 121,803,372 (GRCm39)	D173E	probably benign	Het
Brca2	G	T	5: 150,490,443 (GRCm39)	R3035L	probably benign	Het
Ccdc8	C	A	7: 16,730,176 (GRCm39)	P555Q	probably benign	Het
Ccser2	A	G	14: 36,662,675 (GRCm39)	S170P	probably benign	Het
Celsr2	T	C	3: 108,300,444 (GRCm39)	H860R	probably damaging	Het
Cenpc1	C	A	5: 86,194,244 (GRCm39)	R174M	probably damaging	Het
Cfap57	T	G	4: 118,436,607 (GRCm39)	I930L	probably damaging	Het
Cx3cr1	C	T	9: 119,880,760 (GRCm39)	R214H	probably damaging	Het
Cyp4f14	T	A	17: 33,125,291 (GRCm39)	H429L	probably benign	Het
D5Ertd579e	A	G	5: 36,772,620 (GRCm39)	F592L	probably damaging	Het
Ddb1	A	G	19: 10,603,287 (GRCm39)	E865G	probably damaging	Het
Ddx50	A	T	10: 62,457,345 (GRCm39)		probably null	Het
Dpp6	A	G	5: 27,254,626 (GRCm39)	T14A	probably damaging	Het
Ecm2	A	T	13: 49,683,783 (GRCm39)	D587V	probably damaging	Het
Ect2l	A	T	10: 18,016,145 (GRCm39)	Y666N	possibly damaging	Het
Epha2	G	A	4: 141,044,223 (GRCm39)	G342S	probably benign	Het
Fbxo33	C	A	12: 59,252,865 (GRCm39)	K211N	probably benign	Het
Fchsd2	A	G	7: 100,908,983 (GRCm39)		probably null	Het
Fen1	A	G	19: 10,178,051 (GRCm39)	V131A	probably damaging	Het
Fetub	C	T	16: 22,751,081 (GRCm39)	R143C	probably damaging	Het
Flnb	A	G	14: 7,892,092 (GRCm38)	E587G	probably damaging	Het
Foxd3	A	G	4: 99,545,477 (GRCm39)	T206A	possibly damaging	Het
Fut1	A	G	7: 45,268,730 (GRCm39)	E228G	possibly damaging	Het
Galnt13	T	C	2: 54,823,560 (GRCm39)	F379L	probably damaging	Het
Gcnt2	A	C	13: 41,014,717 (GRCm39)	E296A	probably damaging	Het
Gm7145	T	A	1: 117,913,870 (GRCm39)	C251S	probably damaging	Het
Gpam	G	A	19: 55,059,417 (GRCm39)	P810L	probably damaging	Het
Il1rl2	T	A	1: 40,366,726 (GRCm39)	L87M	possibly damaging	Het
Itgae	A	G	11: 73,036,427 (GRCm39)	S1122G	probably damaging	Het
Kcnh7	T	A	2: 63,012,570 (GRCm39)	D46V	probably damaging	Het
Kcnn3	T	G	3: 89,552,830 (GRCm39)	Y511*	probably null	Het
Kdm3b	T	A	18: 34,926,058 (GRCm39)	I66N	probably damaging	Het
Klk1b27	A	T	7: 43,703,974 (GRCm39)	H39L	probably benign	Het
Kmo	C	T	1: 175,487,261 (GRCm39)	T404I	possibly damaging	Het
Krt222	C	T	11: 99,125,884 (GRCm39)		probably null	Het
Magi3	G	C	3: 103,923,013 (GRCm39)	H1235D	probably benign	Het
Mapk8ip1	C	A	2: 92,219,589 (GRCm39)	G81C	probably damaging	Het
Med15	G	A	16: 17,470,609 (GRCm39)	Q583*	probably null	Het
Mroh2a	T	C	1: 88,184,476 (GRCm39)	V1453A	probably benign	Het
Myh13	A	G	11: 67,253,327 (GRCm39)	M1488V	probably benign	Het
Naip2	A	T	13: 100,288,645 (GRCm39)	F1193L	probably damaging	Het
Nop58	T	A	1: 59,742,014 (GRCm39)	M181K	probably damaging	Het
Npepps	A	T	11: 97,104,616 (GRCm39)	V796D	probably damaging	Het
Nr1d1	A	G	11: 98,661,363 (GRCm39)	F301S	probably damaging	Het
Nynrin	G	A	14: 56,105,485 (GRCm39)	V832I	probably damaging	Het
Or13a28	C	A	7: 140,218,346 (GRCm39)	S244Y	probably damaging	Het
Or1j14	T	A	2: 36,418,353 (GRCm39)	C310S	probably benign	Het
Or2ak7	A	T	11: 58,574,830 (GRCm39)	T44S	possibly damaging	Het
Or4e1	T	A	14: 52,701,352 (GRCm39)	Y38F	probably damaging	Het
Or8k1	T	A	2: 86,047,566 (GRCm39)	T163S	possibly damaging	Het
Phrf1	T	A	7: 140,817,586 (GRCm39)	C132S	probably damaging	Het
Plekhn1	T	C	4: 156,315,015 (GRCm39)		probably null	Het
Polr2a	G	A	11: 69,635,052 (GRCm39)	T569M	probably damaging	Het
Prr29	A	G	11: 106,267,458 (GRCm39)		probably null	Het
Rsf1	CG	CGACGGCGGAG	7: 97,229,115 (GRCm39)		probably benign	Homo
Sc5d	T	C	9: 42,166,717 (GRCm39)	E274G	probably benign	Het
Serpina1d	A	T	12: 103,731,087 (GRCm39)		probably null	Het
Serpinb11	T	A	1: 107,299,972 (GRCm39)	I106N	probably damaging	Het
Setd2	G	A	9: 110,377,733 (GRCm39)	R516K	probably damaging	Het
Sirt2	G	T	7: 28,487,222 (GRCm39)	C291F	probably damaging	Het
Stac3	T	C	10: 127,344,044 (GRCm39)	V314A	probably damaging	Het
Stat6	C	T	10: 127,493,581 (GRCm39)		probably null	Het
Strn3	A	G	12: 51,656,890 (GRCm39)	V712A	probably damaging	Het
Tmc5	G	T	7: 118,233,437 (GRCm39)	G84C	possibly damaging	Het
Tnik	C	A	3: 28,704,328 (GRCm39)	L996I	probably damaging	Het
Trim30d	G	T	7: 104,136,817 (GRCm39)	T129K	probably damaging	Het
Triml1	G	T	8: 43,591,793 (GRCm39)	Y188*	probably null	Het
Trpc7	A	G	13: 56,921,705 (GRCm39)	Y760H	probably damaging	Het
Uaca	G	A	9: 60,777,326 (GRCm39)	R571Q	probably damaging	Het
Ubash3a	A	T	17: 31,458,246 (GRCm39)	Q575L	possibly damaging	Het
Usp49	T	A	17: 47,983,827 (GRCm39)	C61*	probably null	Het
Vmn2r18	A	T	5: 151,508,116 (GRCm39)	V336E	probably damaging	Het
Vwa8	T	C	14: 79,324,102 (GRCm39)	V1135A	probably benign	Het
Zcchc4	T	C	5: 52,940,503 (GRCm39)	V24A	probably benign	Het
Zfp354c	A	G	11: 50,705,798 (GRCm39)	Y426H	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
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
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'- GAAACTGGTCCATTTTGCTGC -3'
(R):5'- AGAAAGTCTTCCACAGGTAAGG -3'

Sequencing Primer
(F):5'- TGCTTCCCACAGGCCCTAG -3'
(R):5'- AAGTCTTCCACAGGTAAGGCTTGG -3'

Posted On

2018-02-28