Mutagenetix > Incidental Mutation

Incidental Mutation 'R5307:Ehhadh'

404675

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

042890-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5307 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

21761287-21787807 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 21762692 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Alanine at position 517 (S517A)

Ref Sequence

ENSEMBL: ENSMUSP00000023559 (fasta)

Gene Model

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

AlphaFold

Q9DBM2

Predicted Effect

probably benign
Transcript: ENSMUST00000023559
AA Change: S517A

PolyPhen 2 Score 0.086 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000023559
Gene: ENSMUSG00000022853
AA Change: S517A

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: 99.3%
3x: 98.6%
10x: 97.2%
20x: 95.1%

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: 78 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700006A11Rik	C	G	3: 124,406,350	G531A	probably damaging	Het
2410089E03Rik	G	A	15: 8,260,690		probably null	Het
Abca8b	C	A	11: 109,977,813	G175V	probably damaging	Het
Ank3	G	A	10: 70,002,565	R1566K	possibly damaging	Het
Ap3d1	T	C	10: 80,723,549	T264A	probably benign	Het
Arhgef17	C	G	7: 100,929,428	G771A	probably benign	Het
Atg2b	T	A	12: 105,658,329	D637V	probably benign	Het
Atp10b	A	G	11: 43,212,475	E562G	probably damaging	Het
Atp1a1	A	G	3: 101,589,964	V342A	probably damaging	Het
Atp2a2	A	G	5: 122,461,747	I527T	probably benign	Het
Atr	T	A	9: 95,878,544	N1022K	probably benign	Het
Bach2	T	A	4: 32,562,683	D383E	probably benign	Het
Casq1	A	T	1: 172,219,416	L92Q	probably damaging	Het
Chd1	T	A	17: 15,732,570	Y371N	probably damaging	Het
Chd9	G	A	8: 90,997,149	A617T	probably damaging	Het
Cntrob	T	A	11: 69,314,750	R419S	possibly damaging	Het
Corin	C	A	5: 72,356,978	G318C	probably damaging	Het
Cpa3	A	G	3: 20,227,163		probably null	Het
Crybg1	T	C	10: 44,003,714	S493G	probably benign	Het
Ddc	A	G	11: 11,876,321	F80S	probably damaging	Het
Dhrs2	A	G	14: 55,236,144	S87G	possibly damaging	Het
Dnah12	A	G	14: 26,693,486	E14G	possibly damaging	Het
Dtd1	A	G	2: 144,747,022	E200G	possibly damaging	Het
Dync2h1	T	C	9: 7,155,099	E895G	probably damaging	Het
Ephb2	C	A	4: 136,693,787	Q417H	possibly damaging	Het
Ephb4	A	G	5: 137,363,312	T526A	probably damaging	Het
Fam222b	G	A	11: 78,153,768	V52I	probably damaging	Het
Galm	G	A	17: 80,144,987	W118*	probably null	Het
Galm	G	T	17: 80,144,988	W118C	probably damaging	Het
Gcfc2	A	G	6: 81,944,386	N458D	probably damaging	Het
Gm11595	G	A	11: 99,772,555	R100C	unknown	Het
Gykl1	A	C	18: 52,694,651	R310S	possibly damaging	Het
Gzmn	A	C	14: 56,167,946	V27G	probably damaging	Het
H2-T23	T	A	17: 36,032,216	M90L	probably benign	Het
Hnrnpu	T	C	1: 178,337,312	E87G	unknown	Het
Hps3	G	A	3: 20,012,701	S567L	possibly damaging	Het
Igfn1	A	T	1: 135,964,938	V2148E	probably damaging	Het
Ighv1-75	T	C	12: 115,833,952	R117G	probably damaging	Het
Itgae	C	T	11: 73,145,638	A1134V	probably benign	Het
Kmt2b	C	T	7: 30,581,673	A1294T	possibly damaging	Het
Leng8	C	T	7: 4,145,473	T748I	probably damaging	Het
Lrig3	G	C	10: 126,006,690	D495H	probably damaging	Het
Mctp1	G	A	13: 76,712,079		probably null	Het
Mfsd3	T	A	15: 76,702,171	L168*	probably null	Het
Nlrp4d	C	A	7: 10,362,782	G921*	probably null	Het
Nsun4	G	A	4: 116,034,138	T348I	probably damaging	Het
Nucb1	T	C	7: 45,498,418	T246A	probably damaging	Het
Nynrin	A	C	14: 55,863,806	S311R	probably damaging	Het
Olfr1019	T	G	2: 85,841,014	Y259S	probably damaging	Het
Olfr1281	T	A	2: 111,328,396		probably null	Het
Ovch2	C	A	7: 107,792,134	R303L	probably benign	Het
Pcsk9	A	G	4: 106,447,174	S490P	probably damaging	Het
Pi4ka	A	G	16: 17,323,030	F859L	probably benign	Het
Pkd1l3	A	G	8: 109,640,792	D1207G	probably damaging	Het
Pnpla7	G	A	2: 25,021,952	R710Q	possibly damaging	Het
Prex2	T	G	1: 11,200,032	S1314A	probably damaging	Het
Rnf216	A	G	5: 143,093,002	L64P	probably damaging	Het
Sh3bp5	C	A	14: 31,377,495	R265L	probably benign	Het
Slc6a20b	T	G	9: 123,603,834	S374R	possibly damaging	Het
Slc8a1	G	T	17: 81,649,224	N128K	probably damaging	Het
Slc9a3r1	T	A	11: 115,163,761	I79N	probably damaging	Het
Slfn5	A	T	11: 82,956,385	D32V	probably damaging	Het
Snrnp35	T	C	5: 124,490,490	I122T	possibly damaging	Het
Snx24	C	T	18: 53,340,211	Q76*	probably null	Het
Sspo	T	A	6: 48,454,850	H692Q	probably damaging	Het
Stxbp3	T	C	3: 108,793,798	D585G	probably damaging	Het
Svep1	T	C	4: 58,072,677	N2211D	possibly damaging	Het
Tnfrsf18	G	A	4: 156,028,424		probably null	Het
Tnik	T	G	3: 28,541,972	D171E	probably damaging	Het
Ttc23l	T	A	15: 10,533,659	H266L	probably damaging	Het
Ttn	G	T	2: 76,894,770	S2037*	probably null	Het
Tuba3a	G	A	6: 125,281,310	T239I	probably damaging	Het
Usp25	T	A	16: 77,093,706	D767E	probably benign	Het
Whrn	G	T	4: 63,431,843	H546N	probably benign	Het
Xirp2	C	T	2: 67,511,162	T1249I	probably damaging	Het
Zbtb1	T	A	12: 76,386,240	D333E	probably damaging	Het
Zfp689	T	G	7: 127,448,815	E15A	possibly damaging	Het
Zhx3	A	G	2: 160,779,868	M793T	probably benign	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
R5157:Ehhadh	UTSW	16	21766511	missense	probably benign	0.00
R5284:Ehhadh	UTSW	16	21763344	splice site	probably null
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
R9747:Ehhadh	UTSW	16	21766388	missense	probably benign	0.00
R9774:Ehhadh	UTSW	16	21763226	missense	probably benign	0.00
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'- GACCCAGTGGCTTGTCATAC -3'
(R):5'- CTACCATCGCCACAGTCATG -3'

Sequencing Primer
(F):5'- CAGTGGCTTGTCATACTGATACCAG -3'
(R):5'- CAGTCATGAGCTTATCCAAAAGG -3'

Posted On

2016-07-22