Mutagenetix > Incidental Mutation

Incidental Mutation 'R1601:Ehhadh'

176177

Institutional Source

Beutler Lab

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

MMRRC Submission

039638-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1601 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

21580037-21606557 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 21585158 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Leucine at position 241 (H241L)

Ref Sequence

ENSEMBL: ENSMUSP00000023559 (fasta)

Gene Model

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

AlphaFold

Q9DBM2

Predicted Effect

probably benign
Transcript: ENSMUST00000023559
AA Change: H241L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000023559
Gene: ENSMUSG00000022853
AA Change: H241L

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

1x: 98.9%
3x: 98.0%
10x: 95.1%
20x: 88.6%

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: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110032F04Rik	G	A	3: 68,777,546 (GRCm39)	S169N	probably benign	Het
Adgra2	T	C	8: 27,600,046 (GRCm39)		probably null	Het
Adgrb2	T	C	4: 129,886,630 (GRCm39)	S257P	probably benign	Het
Adgre1	A	G	17: 57,748,353 (GRCm39)	K518E	probably benign	Het
Anxa7	A	T	14: 20,514,683 (GRCm39)	Y64*	probably null	Het
Arhgef7	A	G	8: 11,832,638 (GRCm39)		probably null	Het
Cdc42bpa	T	A	1: 179,892,566 (GRCm39)	Y243*	probably null	Het
Cdk14	C	T	5: 5,185,378 (GRCm39)	V176M	probably damaging	Het
Cnbd2	A	G	2: 156,175,551 (GRCm39)	E54G	probably damaging	Het
Crx	T	C	7: 15,601,736 (GRCm39)		probably null	Het
Cyp24a1	A	G	2: 170,327,611 (GRCm39)	F511L	possibly damaging	Het
Ddx11	A	G	17: 66,457,380 (GRCm39)	M810V	probably damaging	Het
Dock10	T	C	1: 80,527,519 (GRCm39)	T1077A	probably benign	Het
Dop1a	G	A	9: 86,418,303 (GRCm39)	D2011N	probably damaging	Het
Elp1	T	A	4: 56,774,756 (GRCm39)	K740*	probably null	Het
Enah	A	T	1: 181,747,185 (GRCm39)	L523*	probably null	Het
Fabp3	T	C	4: 130,202,641 (GRCm39)	L24P	probably benign	Het
Fat2	A	G	11: 55,172,836 (GRCm39)	S2626P	probably benign	Het
Fbxo4	A	G	15: 3,998,447 (GRCm39)	M337T	possibly damaging	Het
Gas6	G	T	8: 13,515,786 (GRCm39)	T662N	probably damaging	Het
Gm10608	CAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA	CAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA	9: 118,989,784 (GRCm39)		probably null	Het
Hrh4	G	A	18: 13,148,955 (GRCm39)	V106I	possibly damaging	Het
Ido2	G	T	8: 25,066,205 (GRCm39)	H20Q	possibly damaging	Het
Itga10	G	T	3: 96,560,974 (GRCm39)	R613L	possibly damaging	Het
Itsn2	T	C	12: 4,708,452 (GRCm39)	S836P	probably benign	Het
Kcng3	A	T	17: 83,895,768 (GRCm39)	C233S	probably damaging	Het
Kdm3b	A	G	18: 34,941,784 (GRCm39)	Q625R	probably damaging	Het
Kidins220	A	G	12: 25,055,087 (GRCm39)	S553G	probably benign	Het
Krt82	A	T	15: 101,453,588 (GRCm39)	I266N	probably damaging	Het
Lama5	A	T	2: 179,839,538 (GRCm39)	L736Q	probably damaging	Het
Lnx2	A	G	5: 146,970,329 (GRCm39)	C138R	probably damaging	Het
Mcm5	T	C	8: 75,845,982 (GRCm39)	C397R	possibly damaging	Het
Me1	A	C	9: 86,560,065 (GRCm39)	Y52D	probably damaging	Het
Muc4	C	A	16: 32,575,875 (GRCm39)		probably benign	Het
Myo18b	G	T	5: 113,019,364 (GRCm39)	Q638K	possibly damaging	Het
Ncapd2	A	G	6: 125,162,735 (GRCm39)	L170P	probably damaging	Het
Neb	A	T	2: 52,177,264 (GRCm39)	L1359*	probably null	Het
Nomo1	C	A	7: 45,696,379 (GRCm39)	S299Y	probably damaging	Het
Onecut1	A	T	9: 74,769,973 (GRCm39)	H132L	probably benign	Het
Or2b2	C	A	13: 21,887,396 (GRCm39)	T75K	probably damaging	Het
Or2w3	A	T	11: 58,556,903 (GRCm39)	R173W	probably damaging	Het
Or4e2	A	C	14: 52,687,899 (GRCm39)	T10P	probably benign	Het
Or7a41	A	T	10: 78,871,338 (GRCm39)	Y236F	possibly damaging	Het
Paqr3	A	G	5: 97,259,248 (GRCm39)	Y19H	probably benign	Het
Prdx5	T	C	19: 6,884,926 (GRCm39)	H140R	possibly damaging	Het
Prox1	T	C	1: 189,893,203 (GRCm39)	D414G	probably damaging	Het
Ptprh	T	G	7: 4,555,637 (GRCm39)	E774A	probably damaging	Het
Rnpepl1	A	T	1: 92,844,944 (GRCm39)	D412V	possibly damaging	Het
Sars2	C	T	7: 28,448,396 (GRCm39)	T259M	probably benign	Het
Sbf2	T	C	7: 109,939,283 (GRCm39)		probably null	Het
Sbno2	C	T	10: 79,896,326 (GRCm39)	R898H	probably damaging	Het
Smox	C	A	2: 131,362,094 (GRCm39)	T172N	probably damaging	Het
Taf7l2	T	C	10: 115,949,521 (GRCm39)	S2G	probably damaging	Het
Tdrd9	C	T	12: 111,989,687 (GRCm39)	R341*	probably null	Het
Thrap3	C	G	4: 126,073,894 (GRCm39)	G284A	probably damaging	Het
Tmtc4	A	G	14: 123,182,238 (GRCm39)	V271A	probably benign	Het
Trank1	A	G	9: 111,202,545 (GRCm39)	T1637A	probably damaging	Het
Tspan5	T	A	3: 138,602,596 (GRCm39)	I166N	probably damaging	Het
Vps13b	T	C	15: 35,642,582 (GRCm39)	V1398A	probably benign	Het
Xbp1	C	T	11: 5,471,975 (GRCm39)	R34W	probably damaging	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
IGL02351:Ehhadh	APN	16	21,581,620 (GRCm39)	missense	probably damaging	1.00
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
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

Predicted Primers

PCR Primer
(F):5'- TGCTGTTTTCCAAGATGCTCCTGAG -3'
(R):5'- TCTGACTGGGTTGTGGGAACCA -3'

Sequencing Primer
(F):5'- TCCTGAGGGAGTTGACCAC -3'
(R):5'- TTGTGGGAACCACGCAC -3'

Posted On

2014-04-24