Mutagenetix > Incidental Mutation

Incidental Mutation 'R4698:Ech1'

355835

Institutional Source

Beutler Lab

Gene Symbol

Ech1

Ensembl Gene

ENSMUSG00000053898

Gene Name

enoyl coenzyme A hydratase 1, peroxisomal

Synonyms

dienoyl-CoA isomerase

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4698 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

28524763-28531664 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 28531478 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 310 (V310A)

Ref Sequence

ENSEMBL: ENSMUSP00000066092 (fasta)

Gene Model

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

AlphaFold

O35459

Predicted Effect

probably benign
Transcript: ENSMUST00000066264
AA Change: V310A

PolyPhen 2 Score 0.033 (Sensitivity: 0.95; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000066092
Gene: ENSMUSG00000053898
AA Change: V310A

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 benign
Transcript: ENSMUST00000132376
AA Change: V160A

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000116992
Gene: ENSMUSG00000053898
AA Change: V160A

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

probably benign
Transcript: ENSMUST00000208971

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000154839

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: 99.2%
3x: 98.5%
10x: 96.9%
20x: 94.3%

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: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700122O11Rik	A	G	17: 48,349,049 (GRCm39)	V11A	possibly damaging	Het
6030452D12Rik	T	C	8: 107,230,979 (GRCm39)	I55T	unknown	Het
Aadacl2	A	G	3: 59,932,460 (GRCm39)	D325G	probably benign	Het
Adh1	A	G	3: 137,988,274 (GRCm39)	S113G	probably benign	Het
Agxt2	T	C	15: 10,392,130 (GRCm39)		probably null	Het
Aicda	C	T	6: 122,530,847 (GRCm39)		probably benign	Het
Aifm2	T	C	10: 61,563,535 (GRCm39)	M135T	probably benign	Het
Asah2	T	C	19: 32,031,871 (GRCm39)		probably null	Het
Btbd17	T	C	11: 114,682,543 (GRCm39)	R390G	probably damaging	Het
Cadps	T	C	14: 12,705,654 (GRCm38)	E247G	possibly damaging	Het
Cds2	T	C	2: 132,146,873 (GRCm39)	I383T	probably damaging	Het
Celf3	T	A	3: 94,392,174 (GRCm39)		probably null	Het
Crhr2	T	C	6: 55,079,852 (GRCm39)	S162G	possibly damaging	Het
Dapl1	A	T	2: 59,335,118 (GRCm39)	K91*	probably null	Het
Ddx60	A	C	8: 62,465,458 (GRCm39)	M1372L	probably benign	Het
Dnah2	A	T	11: 69,389,358 (GRCm39)	F845I	probably damaging	Het
Dscam	T	C	16: 96,411,524 (GRCm39)	D1784G	probably damaging	Het
Eef1g	A	G	19: 8,955,330 (GRCm39)	D393G	possibly damaging	Het
Eif3k	T	C	7: 28,671,969 (GRCm39)	I172V	possibly damaging	Het
Foxd4	A	G	19: 24,877,625 (GRCm39)	F192L	probably damaging	Het
Gpr153	T	A	4: 152,366,240 (GRCm39)	S268R	probably damaging	Het
H3c13	C	A	3: 96,176,394 (GRCm39)	R129S	probably damaging	Het
Ivl	T	C	3: 92,478,698 (GRCm39)	K456E	unknown	Het
Kif20b	A	T	19: 34,928,944 (GRCm39)	D1190V	probably damaging	Het
Kif21a	T	A	15: 90,840,508 (GRCm39)	I1223L	possibly damaging	Het
Lmf1	T	C	17: 25,798,324 (GRCm39)	V55A	probably damaging	Het
Loxhd1	A	G	18: 77,459,987 (GRCm39)	E659G	possibly damaging	Het
Lrrc37a	T	C	11: 103,394,930 (GRCm39)	E165G	possibly damaging	Het
Mios	T	C	6: 8,228,113 (GRCm39)	Y677H	possibly damaging	Het
Mnx1	T	A	5: 29,679,057 (GRCm39)	K342M	unknown	Het
Mtpap	A	T	18: 4,375,724 (GRCm39)	T35S	possibly damaging	Het
Ndc1	C	G	4: 107,268,334 (GRCm39)	D623E	probably benign	Het
Nedd4l	A	G	18: 65,336,951 (GRCm39)	Y666C	probably damaging	Het
Or52s6	T	A	7: 103,091,842 (GRCm39)	I163F	possibly damaging	Het
Or5ac22	T	C	16: 59,135,720 (GRCm39)	T17A	probably damaging	Het
Or5b12b	T	G	19: 12,861,985 (GRCm39)	F247V	probably benign	Het
Or5m10b	A	G	2: 85,699,596 (GRCm39)	Y220C	possibly damaging	Het
Papss1	G	T	3: 131,313,092 (GRCm39)	V369F	probably damaging	Het
Pcdhac2	T	A	18: 37,278,822 (GRCm39)	Y601N	probably damaging	Het
Pde7a	C	T	3: 19,365,095 (GRCm39)	R24Q	probably damaging	Het
Phf21a	A	G	2: 92,187,297 (GRCm39)	D445G	probably damaging	Het
Plekho1	T	A	3: 95,902,964 (GRCm39)	N15I	possibly damaging	Het
Pprc1	T	C	19: 46,057,634 (GRCm39)		probably benign	Het
Ralgapa1	A	T	12: 55,724,061 (GRCm39)		probably null	Het
Rrp12	T	C	19: 41,861,481 (GRCm39)	E942G	probably benign	Het
Skor1	T	C	9: 63,051,830 (GRCm39)	D685G	probably benign	Het
Smim23	A	T	11: 32,774,510 (GRCm39)	I3N	possibly damaging	Het
Spata7	A	T	12: 98,630,536 (GRCm39)	I333F	probably damaging	Het
Sppl2c	T	C	11: 104,079,141 (GRCm39)	I647T	probably benign	Het
Srgap1	C	A	10: 121,628,392 (GRCm39)	R837L	probably benign	Het
Stpg2	C	A	3: 139,014,990 (GRCm39)	P385H	probably damaging	Het
Tmem238	C	A	7: 4,792,016 (GRCm39)	E19*	probably null	Het
Top2b	A	T	14: 16,387,331 (GRCm38)	K140*	probably null	Het
Trp53	T	A	11: 69,479,248 (GRCm39)	L142*	probably null	Het
Tyro3	A	T	2: 119,633,751 (GRCm39)	D133V	probably damaging	Het
Virma	T	A	4: 11,528,636 (GRCm39)	I1291N	probably damaging	Het
Vmn1r213	A	G	13: 23,195,507 (GRCm39)		probably benign	Het
Zbtb10	T	C	3: 9,329,610 (GRCm39)	S323P	possibly damaging	Het
Zfp521	A	T	18: 13,978,660 (GRCm39)	N584K	probably damaging	Het
Zfp944	A	G	17: 22,558,180 (GRCm39)	C356R	probably damaging	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
R1797:Ech1	UTSW	7	28,531,288 (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
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'- CTACTCCCGAGACCATTCTGTG -3'
(R):5'- CAGTGAAGATAAGGCCCCAG -3'

Sequencing Primer
(F):5'- CTTGACTACATGGTAAGGCCCTG -3'
(R):5'- GCCCCAGGAAATGAAGAACTAAGTC -3'

Posted On

2015-10-21