Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL00843:Ehhadh'

10455

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

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

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL00843

Quality Score

Status

Chromosome

Chromosomal Location

21761287-21787807 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 21762629 bp

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 538 (S538P)

Ref Sequence

ENSEMBL: ENSMUSP00000023559 (fasta)

Gene Model

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000023559
AA Change: S538P

PolyPhen 2 Score 0.460 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000023559
Gene: ENSMUSG00000022853
AA Change: S538P

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: 26 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Bglap	A	G	3: 88,384,350		probably null	Het
Clcn2	T	C	16: 20,703,641	T772A	probably benign	Het
Cldn18	A	T	9: 99,698,821	F125I	probably benign	Het
Ets2	T	G	16: 95,709,793	F32V	probably benign	Het
F5	G	A	1: 164,211,791	R1990Q	probably benign	Het
Fetub	A	G	16: 22,929,629		probably benign	Het
Hecw1	C	T	13: 14,247,573	E983K	probably benign	Het
Hemgn	A	G	4: 46,396,240	M332T	probably benign	Het
Hmcn1	A	G	1: 150,610,713	I4314T	possibly damaging	Het
Impad1	T	C	4: 4,776,308		probably benign	Het
Lonrf2	C	A	1: 38,812,535		probably benign	Het
Lrrc9	T	C	12: 72,463,417	I430T	possibly damaging	Het
Lrrk2	T	C	15: 91,757,058	V1606A	possibly damaging	Het
Oog2	G	T	4: 144,195,172	L217F	probably damaging	Het
Plxnc1	T	C	10: 94,847,549	H791R	probably benign	Het
Prdm2	G	A	4: 143,134,314	S802L	probably damaging	Het
Prss32	T	A	17: 23,857,362	L233Q	probably damaging	Het
Rapgef6	T	A	11: 54,691,273	V1337E	probably benign	Het
Slc15a3	T	A	19: 10,853,263	M326K	probably null	Het
Slc25a54	A	T	3: 109,112,860	T397S	possibly damaging	Het
Slfn3	C	T	11: 83,213,431	T376M	probably damaging	Het
Stradb	T	A	1: 58,994,409	D410E	probably benign	Het
Tdh	T	C	14: 63,495,764	T178A	probably damaging	Het
Tspan12	T	A	6: 21,851,082		probably benign	Het
Ube2b	A	T	11: 51,995,375	D50E	probably benign	Het
Zranb1	A	C	7: 132,949,893	H117P	probably benign	Het

Other mutations in Ehhadh

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02351:Ehhadh	APN	16	21762870	missense	probably damaging	1.00
IGL02358:Ehhadh	APN	16	21762870	missense	probably damaging	1.00
IGL02946:Ehhadh	APN	16	21762922	missense	probably damaging	1.00
IGL03028:Ehhadh	APN	16	21762394	missense	probably damaging	1.00
IGL03274:Ehhadh	APN	16	21763340	splice site	probably benign
IGL03097:Ehhadh	UTSW	16	21762770	missense	probably benign
R0201:Ehhadh	UTSW	16	21773493	critical splice donor site	probably null
R0846:Ehhadh	UTSW	16	21773497	nonsense	probably null
R1194:Ehhadh	UTSW	16	21762091	missense	probably benign	0.10
R1601:Ehhadh	UTSW	16	21766408	missense	probably benign
R1739:Ehhadh	UTSW	16	21762253	missense	probably benign
R1829:Ehhadh	UTSW	16	21762178	missense	probably damaging	0.99
R4073:Ehhadh	UTSW	16	21766507	missense	probably benign	0.00
R4120:Ehhadh	UTSW	16	21763184	missense	probably benign
R4239:Ehhadh	UTSW	16	21762688	missense	probably damaging	1.00
R4303:Ehhadh	UTSW	16	21762852	missense	probably damaging	1.00
R4727:Ehhadh	UTSW	16	21762431	missense	probably benign	0.11
R4838:Ehhadh	UTSW	16	21763202	missense	possibly damaging	0.45
R5157:Ehhadh	UTSW	16	21766511	missense	probably benign	0.00
R5284:Ehhadh	UTSW	16	21763344	splice site	probably null
R5307:Ehhadh	UTSW	16	21762692	missense	probably benign	0.09
R5346:Ehhadh	UTSW	16	21762790	missense	probably damaging	1.00
R5872:Ehhadh	UTSW	16	21766555	missense	probably benign	0.01
R6762:Ehhadh	UTSW	16	21762459	missense	probably benign	0.01
R6960:Ehhadh	UTSW	16	21762278	missense	probably benign
R7153:Ehhadh	UTSW	16	21766321	missense	probably damaging	1.00
R7714:Ehhadh	UTSW	16	21766390	missense	probably damaging	0.98
R8022:Ehhadh	UTSW	16	21777820	missense	probably benign	0.01
R8054:Ehhadh	UTSW	16	21773493	critical splice donor site	probably null
R8221:Ehhadh	UTSW	16	21762623	missense	possibly damaging	0.77
R8263:Ehhadh	UTSW	16	21773545	missense	probably damaging	1.00
R8316:Ehhadh	UTSW	16	21766303	missense	probably benign	0.02
X0018:Ehhadh	UTSW	16	21762448	missense	probably benign	0.28
Z1177:Ehhadh	UTSW	16	21762288	missense	probably damaging	1.00

Posted On

2012-12-06