Mutagenetix > Incidental Mutation

Incidental Mutation 'R5872:Ehhadh'

455275

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

044079-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5872 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

21580037-21606557 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 21585305 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 192 (E192G)

Ref Sequence

ENSEMBL: ENSMUSP00000023559 (fasta)

Gene Model

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

AlphaFold

Q9DBM2

Predicted Effect

probably benign
Transcript: ENSMUST00000023559
AA Change: E192G

PolyPhen 2 Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000023559
Gene: ENSMUSG00000022853
AA Change: E192G

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: 99.9%
3x: 99.6%
10x: 97.8%
20x: 93.6%

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: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
3425401B19Rik	A	G	14: 32,382,309 (GRCm39)	S1219P	possibly damaging	Het
A2ml1	A	G	6: 128,538,489 (GRCm39)	Y644H	probably damaging	Het
Abca9	T	G	11: 110,007,902 (GRCm39)	R1232S	possibly damaging	Het
Acsf2	C	T	11: 94,463,975 (GRCm39)	V70M	probably benign	Het
Ampd1	A	G	3: 102,986,446 (GRCm39)	I42V	probably benign	Het
Arhgap10	A	G	8: 78,071,267 (GRCm39)		probably null	Het
Atp1a4	A	T	1: 172,071,975 (GRCm39)	L432Q	probably damaging	Het
Bbs12	T	A	3: 37,374,598 (GRCm39)	C349S	possibly damaging	Het
Bnc2	A	G	4: 84,211,007 (GRCm39)	V479A	possibly damaging	Het
Cald1	A	T	6: 34,748,043 (GRCm39)	K761*	probably null	Het
Cd177	C	T	7: 24,451,688 (GRCm39)	G443R	probably null	Het
Cdc42bpb	T	C	12: 111,292,410 (GRCm39)	D375G	probably damaging	Het
Chsy3	T	C	18: 59,309,268 (GRCm39)	Y174H	probably damaging	Het
Cmya5	T	C	13: 93,233,943 (GRCm39)	M382V	probably benign	Het
Col1a2	G	A	6: 4,531,926 (GRCm39)	S782N	unknown	Het
Crtac1	C	T	19: 42,297,629 (GRCm39)		probably null	Het
Csmd3	T	A	15: 47,445,923 (GRCm39)	D3683V	probably damaging	Het
Ctrc	A	G	4: 141,572,354 (GRCm39)	L62P	probably damaging	Het
Cyp3a57	A	T	5: 145,307,867 (GRCm39)	K208*	probably null	Het
Dnaaf2	A	T	12: 69,244,122 (GRCm39)	L313Q	probably damaging	Het
Dtl	A	G	1: 191,278,680 (GRCm39)	L394P	probably benign	Het
Fads2	T	C	19: 10,059,997 (GRCm39)	I226V	probably benign	Het
Fat2	T	C	11: 55,161,208 (GRCm39)	E3174G	probably damaging	Het
Galnt14	C	T	17: 73,881,826 (GRCm39)	R91Q	probably damaging	Het
Hdhd5	G	T	6: 120,487,252 (GRCm39)	D368E	probably benign	Het
Hk3	T	A	13: 55,158,617 (GRCm39)	I528F	probably damaging	Het
Il10ra	A	C	9: 45,166,951 (GRCm39)	S533R	possibly damaging	Het
Itpr3	G	T	17: 27,305,950 (GRCm39)	K169N	probably benign	Het
Lrrc17	A	G	5: 21,780,264 (GRCm39)	T413A	probably benign	Het
Mcm2	C	T	6: 88,861,053 (GRCm39)	D882N	probably benign	Het
Met	T	C	6: 17,562,197 (GRCm39)	V1186A	probably damaging	Het
Msh5	C	T	17: 35,248,628 (GRCm39)		probably null	Het
Nav3	T	C	10: 109,600,648 (GRCm39)	I1326M	probably damaging	Het
Nek10	A	G	14: 14,850,896 (GRCm38)	I314V	probably benign	Het
Or10g1	A	C	14: 52,648,225 (GRCm39)	F35V	probably damaging	Het
Or8b53	T	A	9: 38,667,412 (GRCm39)	Y143N	probably benign	Het
Pim1	A	G	17: 29,712,720 (GRCm39)	E211G	probably damaging	Het
Plaat1	T	A	16: 29,039,189 (GRCm39)	Y90N	probably benign	Het
Ppp1r12b	A	T	1: 134,704,144 (GRCm39)	D903E	probably benign	Het
Ptpn14	T	C	1: 189,583,229 (GRCm39)	L692P	probably benign	Het
Ptprt	A	G	2: 161,977,138 (GRCm39)	C387R	probably damaging	Het
Qrfprl	A	G	6: 65,418,369 (GRCm39)		probably benign	Het
Scarb1	A	G	5: 125,381,341 (GRCm39)	Y68H	possibly damaging	Het
Shisa6	T	A	11: 66,108,800 (GRCm39)	D359V	probably damaging	Het
Shprh	T	C	10: 11,063,817 (GRCm39)	S1297P	probably damaging	Het
Sik1	T	C	17: 32,069,125 (GRCm39)	D250G	probably damaging	Het
Slamf7	A	G	1: 171,466,635 (GRCm39)	L190S	probably damaging	Het
Slc22a3	G	A	17: 12,652,355 (GRCm39)	P423L	probably damaging	Het
Slc35e2	A	T	4: 155,697,137 (GRCm39)	E217V	probably damaging	Het
Spocd1	A	T	4: 129,850,254 (GRCm39)	N760I	probably damaging	Het
Tas2r136	G	T	6: 132,754,294 (GRCm39)	P278T	possibly damaging	Het
Tchhl1	A	T	3: 93,377,836 (GRCm39)	Q180L	probably benign	Het
Tmem151b	T	A	17: 45,858,010 (GRCm39)	T79S	probably benign	Het
Tomm70a	T	A	16: 56,965,105 (GRCm39)	C430S	probably benign	Het
Trbv16	T	A	6: 41,128,936 (GRCm39)	L40Q	probably damaging	Het
Trmt1l	T	G	1: 151,316,594 (GRCm39)	I32S	probably damaging	Het
Ubr4	A	G	4: 139,152,641 (GRCm39)	T2011A	probably damaging	Het
Urb1	C	T	16: 90,569,652 (GRCm39)	W1358*	probably null	Het
Usp31	T	G	7: 121,248,698 (GRCm39)	H915P	probably benign	Het
Vmn2r10	A	T	5: 109,151,377 (GRCm39)	M79K	possibly damaging	Het
Vmn2r14	A	G	5: 109,369,222 (GRCm39)	I117T	probably benign	Het
Vps13b	A	G	15: 35,869,497 (GRCm39)	H2667R	possibly damaging	Het
Vwa5b1	G	A	4: 138,305,962 (GRCm39)	T912M	possibly damaging	Het
Zfp709	G	A	8: 72,643,363 (GRCm39)	C264Y	probably benign	Het
Zkscan5	A	G	5: 145,156,898 (GRCm39)	I467V	probably benign	Het
Zxdc	A	T	6: 90,347,281 (GRCm39)	D214V	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
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
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'- CCTTGATGGCCACTTCATATGG -3'
(R):5'- GACTGCACCTTTCATGTCTGAATTAG -3'

Sequencing Primer
(F):5'- CACTTCATATGGATGCTTCACGGAG -3'
(R):5'- CGATCTTCTACTTTACGGTCTGAAG -3'

Posted On

2017-02-10