Mutagenetix > Incidental Mutation

Incidental Mutation 'R1797:Ech1'

202371

Institutional Source

Beutler Lab

Gene Symbol

Ech1

Ensembl Gene

ENSMUSG00000053898

Gene Name

enoyl coenzyme A hydratase 1, peroxisomal

Synonyms

dienoyl-CoA isomerase

MMRRC Submission

039827-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1797 (G1)

Quality Score

191

Status

Not validated

Chromosome

Chromosomal Location

28524763-28531664 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 28531288 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 292 (Y292C)

Ref Sequence

ENSEMBL: ENSMUSP00000066092 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000066264] [ENSMUST00000066723] [ENSMUST00000132376] [ENSMUST00000208971] [ENSMUST00000151547]

AlphaFold

O35459

Predicted Effect

probably damaging
Transcript: ENSMUST00000066264
AA Change: Y292C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000066092
Gene: ENSMUSG00000053898
AA Change: Y292C

Domain	Start	End	E-Value	Type
Pfam:ECH_1	61	321	7.2e-50	PFAM
Pfam:ECH_2	66	258	9.6e-29	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000066723

SMART Domains

Protein: ENSMUSP00000066461
Gene: ENSMUSG00000053964

Domain	Start	End	E-Value	Type
GLECT	17	150	1.24e-59	SMART
Gal-bind_lectin	23	149	1.49e-59	SMART
low complexity region	151	162	N/A	INTRINSIC
GLECT	196	326	1.49e-53	SMART
Gal-bind_lectin	202	326	2.02e-56	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000124017

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000125155

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000126603

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000127093

Predicted Effect

probably damaging
Transcript: ENSMUST00000132376
AA Change: Y142C

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000116992
Gene: ENSMUSG00000053898
AA Change: Y142C

Domain	Start	End	E-Value	Type
Pfam:ECH	26	166	2.1e-23	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000137834

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000143708

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000154839

Predicted Effect

probably benign
Transcript: ENSMUST00000208971

Predicted Effect

probably benign
Transcript: ENSMUST00000151547

SMART Domains

Protein: ENSMUSP00000141005
Gene: ENSMUSG00000053964

Domain	Start	End	E-Value	Type
Gal-bind_lectin	1	109	4e-45	SMART
GLECT	1	110	2.3e-38	SMART
low complexity region	111	122	N/A	INTRINSIC

Coding Region Coverage

1x: 97.5%
3x: 96.9%
10x: 95.3%
20x: 92.6%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the hydratase/isomerase superfamily. The gene product shows high sequence similarity to enoyl-coenzyme A (CoA) hydratases of several species, particularly within a conserved domain characteristic of these proteins. The encoded protein, which contains a C-terminal peroxisomal targeting sequence, localizes to the peroxisome. The rat ortholog, which localizes to the matrix of both the peroxisome and mitochondria, can isomerize 3-trans,5-cis-dienoyl-CoA to 2-trans,4-trans-dienoyl-CoA, indicating that it is a delta3,5-delta2,4-dienoyl-CoA isomerase. This enzyme functions in the auxiliary step of the fatty acid beta-oxidation pathway. Expression of the rat gene is induced by peroxisome proliferators. [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 81 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933427D14Rik	T	C	11: 72,089,285 (GRCm39)	K200E	possibly damaging	Het
Abcc2	A	G	19: 43,803,225 (GRCm39)	E687G	possibly damaging	Het
Abcc2	A	T	19: 43,822,426 (GRCm39)	Q1421H	probably damaging	Het
Abcg3	C	T	5: 105,087,030 (GRCm39)	S534N	possibly damaging	Het
Acp1	A	G	12: 30,946,113 (GRCm39)		probably null	Het
Adam12	C	A	7: 133,569,590 (GRCm39)	R295L	probably benign	Het
Albfm1	A	T	5: 90,727,460 (GRCm39)	E359D	probably damaging	Het
Alg1	C	A	16: 5,057,007 (GRCm39)	H213Q	probably benign	Het
Ap4b1	T	A	3: 103,726,149 (GRCm39)	W410R	possibly damaging	Het
As3mt	A	G	19: 46,713,373 (GRCm39)	T307A	possibly damaging	Het
Cdc14a	T	C	3: 116,115,843 (GRCm39)	I289V	probably damaging	Het
Cdk17	A	G	10: 93,044,114 (GRCm39)	I18V	possibly damaging	Het
Cep131	C	T	11: 119,964,562 (GRCm39)		probably null	Het
Clca3a2	A	G	3: 144,503,398 (GRCm39)	Y851H	probably benign	Het
Cnih2	T	C	19: 5,144,314 (GRCm39)	K66E	probably benign	Het
Cpsf3	T	A	12: 21,356,851 (GRCm39)	N491K	probably benign	Het
Cux1	C	T	5: 136,304,169 (GRCm39)	E1253K	probably benign	Het
Dcc	A	C	18: 71,500,232 (GRCm39)	L1005R	probably damaging	Het
Ddx19b	A	T	8: 111,739,439 (GRCm39)	M200K	probably damaging	Het
Edc4	G	T	8: 106,617,717 (GRCm39)	A1121S	probably benign	Het
Eml6	T	A	11: 29,832,041 (GRCm39)	I210F	probably benign	Het
Fam135b	T	C	15: 71,324,290 (GRCm39)	T1226A	probably benign	Het
Flg2	C	T	3: 93,108,283 (GRCm39)	R104C	probably damaging	Het
Frzb	T	C	2: 80,276,872 (GRCm39)	I105V	possibly damaging	Het
Gli3	A	G	13: 15,888,097 (GRCm39)	D504G	probably damaging	Het
Gm42669	A	T	5: 107,655,683 (GRCm39)	K1161*	probably null	Het
Gm6665	T	C	18: 31,953,186 (GRCm39)	E63G	possibly damaging	Het
Gm9923	T	C	10: 72,145,593 (GRCm39)	V148A	probably benign	Het
Hoxc5	T	C	15: 102,922,866 (GRCm39)	I118T	probably benign	Het
Hsp90b1	A	G	10: 86,537,609 (GRCm39)	V232A	possibly damaging	Het
Impdh1	T	A	6: 29,207,168 (GRCm39)	I59F	probably damaging	Het
Iqch	G	A	9: 63,495,659 (GRCm39)	P111S	possibly damaging	Het
Itih1	G	T	14: 30,651,856 (GRCm39)	Q829K	probably damaging	Het
Kcnh2	C	T	5: 24,527,670 (GRCm39)	R894H	probably damaging	Het
Kmt5b	G	T	19: 3,864,833 (GRCm39)	E632D	probably benign	Het
L2hgdh	C	T	12: 69,746,340 (GRCm39)	M373I	probably benign	Het
Map3k4	C	T	17: 12,482,906 (GRCm39)	E604K	probably benign	Het
Mok	T	A	12: 110,774,479 (GRCm39)	Y420F	probably benign	Het
Nedd1	G	A	10: 92,534,601 (GRCm39)	T303I	possibly damaging	Het
Nipal4	T	A	11: 46,042,160 (GRCm39)	M174L	probably benign	Het
Or6c213	A	C	10: 129,574,578 (GRCm39)	I69M	probably benign	Het
Pag1	T	A	3: 9,758,946 (GRCm39)	T391S	probably benign	Het
Palm3	A	G	8: 84,755,432 (GRCm39)	R315G	probably benign	Het
Patj	C	T	4: 98,575,675 (GRCm39)	R1177W	probably damaging	Het
Pbld2	G	A	10: 62,910,903 (GRCm39)		probably null	Het
Phldb1	A	T	9: 44,627,842 (GRCm39)	M81K	probably damaging	Het
Pkn2	A	G	3: 142,515,289 (GRCm39)	F682L	probably damaging	Het
Plce1	T	C	19: 38,747,392 (GRCm39)		probably null	Het
Plekha8	T	A	6: 54,617,959 (GRCm39)	V518E	probably damaging	Het
Ppp1r3a	T	A	6: 14,717,981 (GRCm39)	M978L	probably benign	Het
Ppp4r4	T	A	12: 103,564,410 (GRCm39)	C592S	possibly damaging	Het
Prdx6b	T	A	2: 80,123,546 (GRCm39)	D118E	possibly damaging	Het
Ptprg	T	C	14: 12,199,743 (GRCm38)	V52A	probably damaging	Het
Rab27b	A	G	18: 70,122,617 (GRCm39)	M114T	probably damaging	Het
Ralgps1	A	G	2: 33,230,723 (GRCm39)		probably null	Het
Rasa3	G	A	8: 13,632,372 (GRCm39)	P506L	probably benign	Het
Rps6kb1	G	A	11: 86,393,634 (GRCm39)	R499*	probably null	Het
S1pr4	A	G	10: 81,335,024 (GRCm39)	M150T	probably damaging	Het
Scube2	T	C	7: 109,430,882 (GRCm39)	D439G	probably damaging	Het
Serpina1e	T	C	12: 103,917,150 (GRCm39)	K173R	probably benign	Het
Serpina3m	T	A	12: 104,355,774 (GRCm39)	I147N	probably damaging	Het
Sh3rf3	G	T	10: 58,922,489 (GRCm39)	G522*	probably null	Het
Smad1	A	T	8: 80,070,473 (GRCm39)	V355E	probably damaging	Het
Srsf11	A	G	3: 157,725,065 (GRCm39)	V211A	possibly damaging	Het
Stard9	C	A	2: 120,504,117 (GRCm39)	S221R	probably damaging	Het
Stt3a	C	T	9: 36,654,711 (GRCm39)		probably null	Het
Syne2	T	C	12: 76,010,557 (GRCm39)	V2488A	probably benign	Het
Tbc1d23	T	C	16: 56,993,463 (GRCm39)	T568A	possibly damaging	Het
Tnn	A	C	1: 159,968,258 (GRCm39)	V378G	probably damaging	Het
Trim50	T	C	5: 135,382,355 (GRCm39)	V69A	possibly damaging	Het
Ttll10	A	T	4: 156,132,024 (GRCm39)	D19E	probably damaging	Het
Ushbp1	G	A	8: 71,841,567 (GRCm39)	R421C	probably damaging	Het
Vmn2r2	T	C	3: 64,042,128 (GRCm39)	T196A	probably benign	Het
Wdr64	G	A	1: 175,639,585 (GRCm39)	S1028N	probably damaging	Het
Wwtr1	T	C	3: 57,369,996 (GRCm39)	Y373C	probably damaging	Het
Zeb1	A	T	18: 5,766,298 (GRCm39)	K216*	probably null	Het
Zfp39	T	C	11: 58,791,486 (GRCm39)	D67G	probably damaging	Het
Zfp40	A	G	17: 23,394,514 (GRCm39)	I691T	possibly damaging	Het
Zfp532	T	C	18: 65,758,215 (GRCm39)	V716A	probably benign	Het
Zfp616	T	A	11: 73,976,105 (GRCm39)	C791*	probably null	Het
Zfp932	G	A	5: 110,144,489 (GRCm39)		probably benign	Het

Other mutations in Ech1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
pudgy	UTSW	7	28,529,763 (GRCm39)	splice site	probably null
R1640:Ech1	UTSW	7	28,531,264 (GRCm39)	missense	probably damaging	1.00
R3612:Ech1	UTSW	7	28,529,668 (GRCm39)	missense	probably damaging	1.00
R4395:Ech1	UTSW	7	28,525,671 (GRCm39)	missense	probably damaging	1.00
R4698:Ech1	UTSW	7	28,531,478 (GRCm39)	missense	probably benign	0.03
R6217:Ech1	UTSW	7	28,531,261 (GRCm39)	missense	possibly damaging	0.91
R6396:Ech1	UTSW	7	28,529,763 (GRCm39)	splice site	probably null
R6427:Ech1	UTSW	7	28,525,310 (GRCm39)	missense	probably benign	0.00
R6514:Ech1	UTSW	7	28,525,440 (GRCm39)	missense	possibly damaging	0.91
R6681:Ech1	UTSW	7	28,529,763 (GRCm39)	splice site	probably null
R6999:Ech1	UTSW	7	28,529,689 (GRCm39)	missense	probably benign	0.28
R7448:Ech1	UTSW	7	28,525,623 (GRCm39)	missense	probably damaging	1.00
R7544:Ech1	UTSW	7	28,525,392 (GRCm39)	missense	probably benign
R8104:Ech1	UTSW	7	28,524,728 (GRCm39)	unclassified	probably benign
R8334:Ech1	UTSW	7	28,531,248 (GRCm39)	missense	probably benign	0.00
R9195:Ech1	UTSW	7	28,525,446 (GRCm39)	missense	probably damaging	1.00
R9338:Ech1	UTSW	7	28,525,427 (GRCm39)	missense	probably null	0.08

Predicted Primers

PCR Primer
(F):5'- ATTTTCTCTGGGAGGCCACC -3'
(R):5'- CCTGGACTGATTTGATGATGTCC -3'

Sequencing Primer
(F):5'- TGGTCATCCACAGGGCAG -3'
(R):5'- TCCTGGGTCTGCAGCATG -3'

Posted On

2014-06-23