Mutagenetix > Incidental Mutations

Incidental Mutation 'R5157:Ehhadh'

396800

Institutional Source

Beutler Lab

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

MMRRC Submission

042739-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5157 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

21761287-21787807 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 21766511 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Leucine at position 207 (M207L)

Ref Sequence

ENSEMBL: ENSMUSP00000023559 (fasta)

Gene Model

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

AlphaFold

Q9DBM2

Predicted Effect

probably benign
Transcript: ENSMUST00000023559
AA Change: M207L

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

SMART Domains

Protein: ENSMUSP00000023559
Gene: ENSMUSG00000022853
AA Change: M207L

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

Meta Mutation Damage Score

0.0601

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.9%
20x: 94.2%

Validation Efficiency

100% (57/57)

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: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
0610009B22Rik	A	T	11: 51,686,066	S2T	probably benign	Het
Abca3	C	T	17: 24,408,122	R1266C	probably damaging	Het
Adap2	T	C	11: 80,156,946	F76S	probably damaging	Het
Adgb	T	A	10: 10,398,966	H747L	probably damaging	Het
Aox1	T	A	1: 58,070,063	V670D	probably damaging	Het
Ap4e1	A	G	2: 127,061,695	D839G	probably benign	Het
Arhgef11	T	A	3: 87,728,510		probably null	Het
AY074887	T	C	9: 54,950,818		probably benign	Het
Bicd1	C	G	6: 149,520,414	Q878E	probably benign	Het
Catspere1	A	T	1: 177,879,782		noncoding transcript	Het
Cnmd	T	C	14: 79,656,686	Q87R	probably benign	Het
Col24a1	G	T	3: 145,345,951	G661*	probably null	Het
Crtap	G	A	9: 114,384,792	L232F	probably damaging	Het
Ctsq	T	C	13: 61,037,099	T258A	probably benign	Het
Cyp2d26	T	C	15: 82,790,989	Q388R	probably benign	Het
Ddb1	A	T	19: 10,622,364	T646S	probably benign	Het
Dnah6	G	T	6: 73,195,634	S280R	probably benign	Het
Dzank1	T	C	2: 144,483,412	H545R	probably damaging	Het
Elmo2	T	A	2: 165,291,707		probably benign	Het
Golga3	G	A	5: 110,202,671	A731T	probably benign	Het
Igsf21	T	C	4: 140,028,067	T426A	possibly damaging	Het
Kcnf1	T	C	12: 17,174,741	E493G	probably benign	Het
Lmna	A	T	3: 88,484,107	D364E	probably damaging	Het
Lsr	T	C	7: 30,966,040	Y163C	probably damaging	Het
Map3k20	A	T	2: 72,438,214	T522S	probably benign	Het
Mpp5	T	A	12: 78,820,815	M324K	possibly damaging	Het
Mroh9	C	A	1: 163,044,121	A598S	probably damaging	Het
Msln	T	C	17: 25,752,983	M87V	probably benign	Het
Olfr1155	T	A	2: 87,942,888	M247L	probably benign	Het
Olfr1197	T	A	2: 88,729,548	Q17L	probably benign	Het
Olfr292	A	G	7: 86,695,232	K259E	probably benign	Het
Olfr385	T	C	11: 73,589,723	N5S	probably damaging	Het
Plekhg5	T	A	4: 152,107,865		probably benign	Het
Pprc1	G	T	19: 46,064,758		probably benign	Het
Ptprm	T	A	17: 66,957,097	K385I	probably benign	Het
Rfxap	T	A	3: 54,804,517	N215I	probably damaging	Het
Slc16a7	A	T	10: 125,233,464	Y114*	probably null	Het
Smarcb1	G	T	10: 75,911,794		probably benign	Het
Spef2	T	A	15: 9,668,791	R770*	probably null	Het
Stard9	A	T	2: 120,697,861	Y1533F	probably benign	Het
Tbcd	A	T	11: 121,610,027	Y1142F	probably benign	Het
Ttc23l	G	T	15: 10,551,550	T30K	possibly damaging	Het
Uba7	G	A	9: 107,980,047	V703I	probably benign	Het
Upb1	T	C	10: 75,412,804	S53P	possibly damaging	Het
Zfp672	A	G	11: 58,316,851	S215P	possibly damaging	Het
Zfp978	T	A	4: 147,390,980	L328H	probably damaging	Het

Other mutations in Ehhadh

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00843:Ehhadh	APN	16	21762629	missense	possibly damaging	0.46
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
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
R8549:Ehhadh	UTSW	16	21766418	missense	probably benign	0.01
R8873:Ehhadh	UTSW	16	21762848	missense	probably damaging	1.00
R9320:Ehhadh	UTSW	16	21773531	missense	probably benign
X0018:Ehhadh	UTSW	16	21762448	missense	probably benign	0.28
Z1177:Ehhadh	UTSW	16	21762288	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GGGAGTTGACCACTTATTTGCAG -3'
(R):5'- CGGTCTGAAGTTACTAAGATTACAG -3'

Sequencing Primer
(F):5'- AAAGGCGTACTGCAGGGCTC -3'
(R):5'- TTACAGACTTTGGATATCGTGTTTC -3'

Posted On

2016-06-21