Mutagenetix > Incidental Mutation

Incidental Mutation 'R8263:Ehhadh'

639823

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

067688-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8263 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

21580037-21606557 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 21592295 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Histidine at position 136 (L136H)

Ref Sequence

ENSEMBL: ENSMUSP00000023559 (fasta)

Gene Model

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

AlphaFold

Q9DBM2

Predicted Effect

probably damaging
Transcript: ENSMUST00000023559
AA Change: L136H

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000023559
Gene: ENSMUSG00000022853
AA Change: L136H

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: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.8%

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: 81 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A630095N17Rik	T	A	1: 75,208,683 (GRCm39)	R12S	unknown	Het
Ankrd10	C	T	8: 11,665,707 (GRCm39)	V298I	probably benign	Het
Atg4d	T	A	9: 21,178,335 (GRCm39)	M151K	probably damaging	Het
Calhm5	C	A	10: 33,972,192 (GRCm39)	C81F	probably damaging	Het
Casp8ap2	T	A	4: 32,644,072 (GRCm39)	H1048Q	probably damaging	Het
Cd300ld2	A	G	11: 114,903,192 (GRCm39)	S218P	unknown	Het
Clec3a	T	C	8: 115,152,369 (GRCm39)	V125A	probably benign	Het
Cnot6	A	T	11: 49,573,002 (GRCm39)	Y241N	probably damaging	Het
Dnah1	A	T	14: 31,015,134 (GRCm39)	F1686Y	probably damaging	Het
Dnah12	A	G	14: 26,613,421 (GRCm39)	K1285E	noncoding transcript	Het
Dop1b	T	C	16: 93,559,083 (GRCm39)	S610P	possibly damaging	Het
Epha7	A	G	4: 28,821,149 (GRCm39)	T105A	probably damaging	Het
Etl4	A	T	2: 20,748,965 (GRCm39)	E434D	probably benign	Het
Fastkd2	T	C	1: 63,770,968 (GRCm39)	V108A	probably benign	Het
Fat2	G	A	11: 55,174,962 (GRCm39)	T1917I	probably benign	Het
Fbxo45	A	G	16: 32,065,533 (GRCm39)	S33P	unknown	Het
Fig4	A	T	10: 41,143,711 (GRCm39)	Y249*	probably null	Het
Fryl	T	C	5: 73,238,348 (GRCm39)	Y1466C	probably damaging	Het
G530012D18Rik	C	G	1: 85,504,935 (GRCm39)	D113E	unknown	Het
Glod4	T	C	11: 76,125,318 (GRCm39)	D147G	possibly damaging	Het
Gm12695	T	G	4: 96,651,046 (GRCm39)	M136L	probably benign	Het
Gm5422	A	G	10: 31,125,099 (GRCm39)	T313A	noncoding transcript	Het
Hydin	C	A	8: 111,178,705 (GRCm39)	A1100D	probably benign	Het
Ift172	G	A	5: 31,422,681 (GRCm39)	A923V	possibly damaging	Het
Irgc	G	A	7: 24,132,107 (GRCm39)	H237Y	probably damaging	Het
Itga11	T	C	9: 62,604,262 (GRCm39)	I50T	possibly damaging	Het
Itpr3	C	T	17: 27,334,887 (GRCm39)	Q2134*	probably null	Het
Kat8	A	T	7: 127,523,653 (GRCm39)	D292V	possibly damaging	Het
Kdm2a	A	G	19: 4,374,392 (GRCm39)	M913T	possibly damaging	Het
Larp4	T	C	15: 99,883,961 (GRCm39)	V66A	probably benign	Het
Loxhd1	A	G	18: 77,462,858 (GRCm39)	D899G	probably damaging	Het
Lrrc47	G	T	4: 154,100,486 (GRCm39)	R354L	probably damaging	Het
Lss	C	T	10: 76,367,739 (GRCm39)	R24C	probably damaging	Het
Mmp14	C	T	14: 54,673,244 (GRCm39)	R51C	probably damaging	Het
Mon1a	C	T	9: 107,775,993 (GRCm39)	T37I	probably benign	Het
Mtcl2	A	G	2: 156,869,510 (GRCm39)	W1042R	possibly damaging	Het
Nacc2	A	C	2: 25,952,240 (GRCm39)	V372G	probably damaging	Het
Ncapg	T	C	5: 45,849,134 (GRCm39)	V690A	probably benign	Het
Nhej1	A	G	1: 75,006,896 (GRCm39)	L152P	probably damaging	Het
Nol4l	A	T	2: 153,259,337 (GRCm39)	S522R	probably damaging	Het
Nr0b2	A	G	4: 133,281,241 (GRCm39)	Y169C	probably damaging	Het
Numa1	A	G	7: 101,648,491 (GRCm39)	M741V	probably benign	Het
Or10d1b	A	G	9: 39,613,453 (GRCm39)	M204T	possibly damaging	Het
Or8g28	A	G	9: 39,169,899 (GRCm39)	L26P	probably damaging	Het
Pebp1	C	A	5: 117,425,473 (GRCm39)		probably null	Het
Pik3ip1	A	T	11: 3,291,581 (GRCm39)	I217F	probably damaging	Het
Plekhg1	T	A	10: 3,907,651 (GRCm39)	I911N		Het
Pnpla8	T	C	12: 44,342,846 (GRCm39)	I534T	probably damaging	Het
Ppp2r2a	A	T	14: 67,261,205 (GRCm39)	F172I	probably damaging	Het
Rab7	C	T	6: 87,989,292 (GRCm39)	M59I	probably benign	Het
Rbm34	T	C	8: 127,692,139 (GRCm39)	N201S	probably benign	Het
Rfx1	G	T	8: 84,821,483 (GRCm39)	R764L	probably damaging	Het
Rnase12	T	A	14: 51,294,580 (GRCm39)	D33V	probably damaging	Het
Rnf121	A	G	7: 101,684,532 (GRCm39)	L127P	probably damaging	Het
Rtl1	C	A	12: 109,560,180 (GRCm39)	R553L	probably damaging	Het
Scn8a	T	C	15: 100,881,736 (GRCm39)	L601P	probably damaging	Het
Scyl2	G	T	10: 89,476,525 (GRCm39)	Q867K	possibly damaging	Het
Sgtb	T	C	13: 104,268,692 (GRCm39)	F213L	probably benign	Het
Slc35f4	A	G	14: 49,551,084 (GRCm39)	V260A	probably damaging	Het
Slfn14	A	G	11: 83,174,299 (GRCm39)	Y231H	possibly damaging	Het
Sppl2b	TGTCACAGGT	TGT	10: 80,701,903 (GRCm39)		probably null	Het
Stard13	G	A	5: 151,157,106 (GRCm39)	A25V	possibly damaging	Het
Stk38	C	T	17: 29,203,161 (GRCm39)	R135H	probably damaging	Het
Svil	A	G	18: 5,108,679 (GRCm39)	D1939G	probably damaging	Het
Tasor2	C	T	13: 3,625,286 (GRCm39)	V1555I	possibly damaging	Het
Tasor2	G	T	13: 3,640,016 (GRCm39)	P374T	probably benign	Het
Tbc1d7	A	G	13: 43,323,340 (GRCm39)	V17A	possibly damaging	Het
Trpc4	T	C	3: 54,129,756 (GRCm39)	V174A	probably damaging	Het
Ttn	G	T	2: 76,619,028 (GRCm39)	T16117K	probably damaging	Het
Tubb3	T	A	8: 124,147,868 (GRCm39)	M267K	possibly damaging	Het
Upk1b	T	C	16: 38,604,585 (GRCm39)	T147A	probably damaging	Het
Vmn2r107	G	T	17: 20,580,614 (GRCm39)	C517F	probably damaging	Het
Vmn2r112	A	G	17: 22,824,140 (GRCm39)	D465G	probably damaging	Het
Vmn2r73	A	T	7: 85,507,619 (GRCm39)	H564Q	probably benign	Het
Vmn2r79	A	G	7: 86,686,726 (GRCm39)	I702M	possibly damaging	Het
Vmn2r84	A	G	10: 130,227,037 (GRCm39)	V267A	probably damaging	Het
Zfp445	T	C	9: 122,681,878 (GRCm39)	I688V	probably benign	Het
Zfp955a	C	T	17: 33,463,087 (GRCm39)	V15M	probably damaging	Het
Zfp960	T	A	17: 17,308,202 (GRCm39)	C305*	probably null	Het
Zfp964	A	G	8: 70,116,345 (GRCm39)	D315G	possibly damaging	Het
Zmynd10	T	A	9: 107,426,516 (GRCm39)	I183K	possibly 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
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
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'- TTGCTCATGTACACGGGGTC -3'
(R):5'- CGACACTGTTGCTGAATTCAG -3'

Sequencing Primer
(F):5'- TCATGTACACGGGGTCCTCATG -3'
(R):5'- GCTGAATTCAGTGCAACTGTTTC -3'

Posted On

2020-07-28