Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02351:Ehhadh'

289472

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Ehhadh

Ensembl Gene

ENSMUSG00000022853

Gene Name

enoyl-Coenzyme A, hydratase/3-hydroxyacyl Coenzyme A dehydrogenase

Synonyms

L-PBE, MFP1, L-bifunctional enzyme, MFP, 1300002P22Rik, HD

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL02351

Quality Score

Status

Chromosome

Chromosomal Location

21580037-21606557 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 21581620 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Phenylalanine at position 457 (L457F)

Ref Sequence

ENSEMBL: ENSMUSP00000023559 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000023559]

AlphaFold

Q9DBM2

Predicted Effect

probably damaging
Transcript: ENSMUST00000023559
AA Change: L457F

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

SMART Domains

Protein: ENSMUSP00000023559
Gene: ENSMUSG00000022853
AA Change: L457F

Domain	Start	End	E-Value	Type
Pfam:ECH_1	6	203	2.4e-41	PFAM
Pfam:ECH_2	11	254	3.2e-26	PFAM
Pfam:3HCDH_N	297	471	1e-55	PFAM
Pfam:3HCDH	473	577	2.7e-29	PFAM
Pfam:3HCDH	614	710	5.3e-10	PFAM

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a bifunctional enzyme and is one of the four enzymes of the peroxisomal beta-oxidation pathway. The N-terminal region of the encoded protein contains enoyl-CoA hydratase activity while the C-terminal region contains 3-hydroxyacyl-CoA dehydrogenase activity. Defects in this gene are a cause of peroxisomal disorders such as Zellweger syndrome. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2009]
PHENOTYPE: Mice homozygous for disruption of this gene display a normal phenotype. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abi3bp	A	G	16: 56,474,418 (GRCm39)	T448A	possibly damaging	Het
Adamtsl1	T	A	4: 86,075,110 (GRCm39)		probably null	Het
Adgra3	A	G	5: 50,215,900 (GRCm39)	V73A	probably benign	Het
Aggf1	T	C	13: 95,489,358 (GRCm39)		probably benign	Het
Aktip	C	T	8: 91,853,520 (GRCm39)	V96I	possibly damaging	Het
Atm	A	G	9: 53,433,476 (GRCm39)	I258T	probably benign	Het
Baz1b	C	T	5: 135,273,160 (GRCm39)	T1428I	probably damaging	Het
C3ar1	A	T	6: 122,826,934 (GRCm39)	Y428N	probably damaging	Het
Cadps	A	G	14: 12,597,380 (GRCm38)	S437P	probably damaging	Het
Car4	C	T	11: 84,856,593 (GRCm39)	P294S	probably damaging	Het
Cenpq	A	G	17: 41,235,223 (GRCm39)	L213P	probably damaging	Het
Cept1	A	G	3: 106,446,504 (GRCm39)		probably null	Het
Cln6	A	G	9: 62,754,407 (GRCm39)	I150V	probably benign	Het
Cyb5r3	T	C	15: 83,045,136 (GRCm39)	T94A	probably benign	Het
Cyp2c67	A	G	19: 39,605,861 (GRCm39)	M345T	probably damaging	Het
Dapk2	T	A	9: 66,153,805 (GRCm39)	I187N	probably damaging	Het
Dkk2	A	G	3: 131,883,673 (GRCm39)	D191G	probably benign	Het
Dnah8	T	A	17: 30,986,785 (GRCm39)	F3145I	probably damaging	Het
Dock1	A	C	7: 134,710,548 (GRCm39)	D1190A	possibly damaging	Het
Ercc6l2	T	C	13: 64,001,497 (GRCm39)	L552P	probably damaging	Het
Ghrhr	T	G	6: 55,361,138 (GRCm39)	I284S	probably damaging	Het
Gm10288	A	T	3: 146,544,954 (GRCm39)		noncoding transcript	Het
Gp6	T	G	7: 4,397,507 (GRCm39)	I19L	probably benign	Het
Gria4	G	A	9: 4,456,206 (GRCm39)	S698L	possibly damaging	Het
Ifng	A	T	10: 118,278,410 (GRCm39)	I53F	possibly damaging	Het
Kazn	A	C	4: 141,874,327 (GRCm39)		probably null	Het
Khk	A	T	5: 31,085,848 (GRCm39)	I136F	probably damaging	Het
Lnx1	T	A	5: 74,788,027 (GRCm39)	N98Y	probably damaging	Het
Lsp1	T	C	7: 142,042,679 (GRCm39)		probably null	Het
Lta4h	A	T	10: 93,314,329 (GRCm39)	N467I	probably benign	Het
Mcmbp	C	A	7: 128,311,505 (GRCm39)		probably null	Het
Me2	A	T	18: 73,931,038 (GRCm39)	I85K	probably benign	Het
Muc4	C	T	16: 32,569,804 (GRCm39)	T288I	possibly damaging	Het
Nadsyn1	A	T	7: 143,353,649 (GRCm39)	Y525N	probably damaging	Het
Nt5e	G	A	9: 88,209,946 (GRCm39)	V70M	probably damaging	Het
Or52e4	G	A	7: 104,706,182 (GRCm39)	G243D	probably damaging	Het
Or8b36	A	T	9: 37,937,332 (GRCm39)	I77L	possibly damaging	Het
Or9k7	T	G	10: 130,046,603 (GRCm39)	Y132S	probably damaging	Het
Pkd1l3	A	G	8: 110,373,129 (GRCm39)		probably benign	Het
Ppm1d	A	T	11: 85,236,541 (GRCm39)	E440V	probably damaging	Het
Pramel32	A	T	4: 88,546,127 (GRCm39)	I405N	probably damaging	Het
Ripor2	A	T	13: 24,915,572 (GRCm39)	E1047D	probably damaging	Het
Rwdd2b	G	A	16: 87,234,336 (GRCm39)	A18V	probably benign	Het
Serpina5	G	T	12: 104,068,384 (GRCm39)	K148N	probably damaging	Het
Setx	A	G	2: 29,036,976 (GRCm39)	K1154E	probably benign	Het
Skap1	T	A	11: 96,599,382 (GRCm39)		probably null	Het
Spcs2	T	C	7: 99,498,241 (GRCm39)	K81R	probably damaging	Het
Stt3b	T	A	9: 115,079,975 (GRCm39)	M646L	possibly damaging	Het
Suco	T	C	1: 161,646,195 (GRCm39)	T1169A	probably benign	Het
Susd1	A	T	4: 59,427,985 (GRCm39)	Y66*	probably null	Het
Trim34a	T	A	7: 103,910,441 (GRCm39)	C414*	probably null	Het
Trim58	G	A	11: 58,542,176 (GRCm39)	G379S	probably damaging	Het
Vmn2r50	T	A	7: 9,787,002 (GRCm39)	Q35L	probably benign	Het
Zfp418	T	C	7: 7,177,690 (GRCm39)		probably benign	Het
Zfp57	G	A	17: 37,320,919 (GRCm39)	V258I	probably benign	Het
Zng1	A	T	19: 24,909,026 (GRCm39)		probably null	Het

Other mutations in Ehhadh

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00843:Ehhadh	APN	16	21,581,379 (GRCm39)	missense	possibly damaging	0.46
IGL02358:Ehhadh	APN	16	21,581,620 (GRCm39)	missense	probably damaging	1.00
IGL02946:Ehhadh	APN	16	21,581,672 (GRCm39)	missense	probably damaging	1.00
IGL03028:Ehhadh	APN	16	21,581,144 (GRCm39)	missense	probably damaging	1.00
IGL03274:Ehhadh	APN	16	21,582,090 (GRCm39)	splice site	probably benign
IGL03097:Ehhadh	UTSW	16	21,581,520 (GRCm39)	missense	probably benign
R0201:Ehhadh	UTSW	16	21,592,243 (GRCm39)	critical splice donor site	probably null
R0846:Ehhadh	UTSW	16	21,592,247 (GRCm39)	nonsense	probably null
R1194:Ehhadh	UTSW	16	21,580,841 (GRCm39)	missense	probably benign	0.10
R1601:Ehhadh	UTSW	16	21,585,158 (GRCm39)	missense	probably benign
R1739:Ehhadh	UTSW	16	21,581,003 (GRCm39)	missense	probably benign
R1829:Ehhadh	UTSW	16	21,580,928 (GRCm39)	missense	probably damaging	0.99
R4073:Ehhadh	UTSW	16	21,585,257 (GRCm39)	missense	probably benign	0.00
R4120:Ehhadh	UTSW	16	21,581,934 (GRCm39)	missense	probably benign
R4239:Ehhadh	UTSW	16	21,581,438 (GRCm39)	missense	probably damaging	1.00
R4303:Ehhadh	UTSW	16	21,581,602 (GRCm39)	missense	probably damaging	1.00
R4727:Ehhadh	UTSW	16	21,581,181 (GRCm39)	missense	probably benign	0.11
R4838:Ehhadh	UTSW	16	21,581,952 (GRCm39)	missense	possibly damaging	0.45
R5157:Ehhadh	UTSW	16	21,585,261 (GRCm39)	missense	probably benign	0.00
R5284:Ehhadh	UTSW	16	21,582,094 (GRCm39)	splice site	probably null
R5307:Ehhadh	UTSW	16	21,581,442 (GRCm39)	missense	probably benign	0.09
R5346:Ehhadh	UTSW	16	21,581,540 (GRCm39)	missense	probably damaging	1.00
R5872:Ehhadh	UTSW	16	21,585,305 (GRCm39)	missense	probably benign	0.01
R6762:Ehhadh	UTSW	16	21,581,209 (GRCm39)	missense	probably benign	0.01
R6960:Ehhadh	UTSW	16	21,581,028 (GRCm39)	missense	probably benign
R7153:Ehhadh	UTSW	16	21,585,071 (GRCm39)	missense	probably damaging	1.00
R7714:Ehhadh	UTSW	16	21,585,140 (GRCm39)	missense	probably damaging	0.98
R8022:Ehhadh	UTSW	16	21,596,570 (GRCm39)	missense	probably benign	0.01
R8054:Ehhadh	UTSW	16	21,592,243 (GRCm39)	critical splice donor site	probably null
R8221:Ehhadh	UTSW	16	21,581,373 (GRCm39)	missense	possibly damaging	0.77
R8263:Ehhadh	UTSW	16	21,592,295 (GRCm39)	missense	probably damaging	1.00
R8316:Ehhadh	UTSW	16	21,585,053 (GRCm39)	missense	probably benign	0.02
R8549:Ehhadh	UTSW	16	21,585,168 (GRCm39)	missense	probably benign	0.01
R8873:Ehhadh	UTSW	16	21,581,598 (GRCm39)	missense	probably damaging	1.00
R9320:Ehhadh	UTSW	16	21,592,281 (GRCm39)	missense	probably benign
R9747:Ehhadh	UTSW	16	21,585,138 (GRCm39)	missense	probably benign	0.00
R9774:Ehhadh	UTSW	16	21,581,976 (GRCm39)	missense	probably benign	0.00
X0018:Ehhadh	UTSW	16	21,581,198 (GRCm39)	missense	probably benign	0.28
Z1177:Ehhadh	UTSW	16	21,581,038 (GRCm39)	missense	probably damaging	1.00

Posted On

2015-04-16