Mutagenetix > Incidental Mutations

Incidental Mutation 'R2437:Ephx1'

249621

Institutional Source

Beutler Lab

Gene Symbol

Ephx1

Ensembl Gene

ENSMUSG00000038776

Gene Name

epoxide hydrolase 1, microsomal

Synonyms

Eph-1, mEH, Eph1

MMRRC Submission

040398-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.191) question?

Stock #

R2437 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

180976210-181020904 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 180996096 bp

Zygosity

Heterozygous

Amino Acid Change

Glycine to Cysteine at position 149 (G149C)

Ref Sequence

ENSEMBL: ENSMUSP00000106697 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000036928] [ENSMUST00000111068] [ENSMUST00000147585]

Predicted Effect

probably damaging
Transcript: ENSMUST00000036928
AA Change: G149C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000047551
Gene: ENSMUSG00000038776
AA Change: G149C

Domain	Start	End	E-Value	Type
Pfam:EHN	50	160	2.1e-36	PFAM
Pfam:Abhydrolase_1	142	404	2.1e-28	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000111068
AA Change: G149C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000106697
Gene: ENSMUSG00000038776
AA Change: G149C

Domain	Start	End	E-Value	Type
Pfam:EHN	49	161	4.2e-38	PFAM
Pfam:Abhydrolase_6	144	430	3.7e-10	PFAM
Pfam:Abhydrolase_1	178	254	1.6e-11	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000147585

SMART Domains

Protein: ENSMUSP00000122671
Gene: ENSMUSG00000038776

Domain	Start	End	E-Value	Type
Pfam:EHN	49	130	2.6e-26	PFAM

Predicted Effect

unknown
Transcript: ENSMUST00000154133
AA Change: G25C

SMART Domains

Protein: ENSMUSP00000114363
Gene: ENSMUSG00000038776
AA Change: G25C

Domain	Start	End	E-Value	Type
Pfam:EHN	1	37	1.2e-8	PFAM
Pfam:Abhydrolase_1	19	247	2.3e-26	PFAM

Meta Mutation Damage Score

0.9674

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 97.0%
20x: 94.0%

Validation Efficiency

100% (75/75)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Epoxide hydrolase is a critical biotransformation enzyme that converts epoxides from the degradation of aromatic compounds to trans-dihydrodiols which can be conjugated and excreted from the body. Epoxide hydrolase functions in both the activation and detoxification of epoxides. Mutations in this gene cause preeclampsia, epoxide hydrolase deficiency or increased epoxide hydrolase activity. Alternatively spliced transcript variants encoding the same protein have been found for this gene.[provided by RefSeq, Dec 2008]
PHENOTYPE: Mice homozygous for a knock-out allele are highly resistant to DMBA-induced skin carcinogenesis. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 72 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2510039O18Rik	A	G	4: 147,946,618	*635W	probably null	Het
4921507P07Rik	T	A	6: 50,583,979	D212V	probably damaging	Het
4932438A13Rik	T	A	3: 36,958,685		probably null	Het
Anxa2	A	G	9: 69,489,764	Y317C	probably damaging	Het
Arhgef26	T	C	3: 62,432,581	S675P	probably damaging	Het
Camk2d	A	G	3: 126,834,628	N53S	probably damaging	Het
Carns1	A	T	19: 4,165,783	M800K	possibly damaging	Het
Ces1f	A	T	8: 93,270,139		probably null	Het
Chrne	T	A	11: 70,615,260	D426V	possibly damaging	Het
Cntfr	T	C	4: 41,671,035	T43A	probably damaging	Het
Cntn5	A	T	9: 10,048,753	C63*	probably null	Het
Col12a1	G	A	9: 79,692,219	T884I	probably damaging	Het
Dnah5	T	C	15: 28,307,391		probably null	Het
Dnajc2	A	T	5: 21,760,391	S537R	probably benign	Het
Dnajc25	T	C	4: 59,020,234	I100T	probably damaging	Het
Fam163b	G	T	2: 27,112,686	P100T	probably damaging	Het
Fgd5	A	T	6: 92,062,869	R1017*	probably null	Het
Fibin	A	T	2: 110,362,503	L98Q	probably damaging	Het
Fndc3b	A	T	3: 27,451,332	L929H	probably damaging	Het
Frem1	T	A	4: 83,000,173	S512C	probably damaging	Het
Gm4922	T	A	10: 18,784,081	M298L	probably benign	Het
Gstm2	G	A	3: 107,984,053		probably benign	Het
Gtf3c2	A	G	5: 31,159,698		probably null	Het
Ibtk	A	C	9: 85,708,125	L1026V	probably benign	Het
Il9	T	A	13: 56,481,871		probably benign	Het
Inpp4a	T	C	1: 37,392,956	S146P	probably damaging	Het
Kcnab1	G	T	3: 65,357,014		probably benign	Het
Lrrc29	A	G	8: 105,313,043		probably null	Het
Mgat4c	T	C	10: 102,388,575	S217P	probably damaging	Het
Mr1	T	C	1: 155,132,531	M233V	probably benign	Het
Ncoa2	G	A	1: 13,148,360	T1415I	probably damaging	Het
Oasl2	G	A	5: 114,911,296	D486N	probably benign	Het
Olfr1412	T	C	1: 92,588,966	I212T	possibly damaging	Het
Olfr342	A	T	2: 36,528,246	Y278F	probably damaging	Het
Olfr461	G	A	6: 40,544,922	T19I	probably benign	Het
Pcnx4	T	C	12: 72,541,813	F132L	probably damaging	Het
Pde5a	T	A	3: 122,843,053	L717Q	probably damaging	Het
Peli2	A	T	14: 48,227,932		probably benign	Het
Phf14	A	G	6: 11,962,658	S435G	probably damaging	Het
Plekhg1	T	A	10: 3,963,564	H1095Q	probably damaging	Het
Plekhh2	A	G	17: 84,586,479		probably null	Het
Plekho1	T	G	3: 95,992,185	N99H	probably damaging	Het
Plxnc1	T	A	10: 94,906,533	K457N	probably benign	Het
Ppp1r3a	T	C	6: 14,718,323	E864G	probably benign	Het
Prkab2	T	A	3: 97,667,399	L237Q	probably damaging	Het
Ptch1	T	G	13: 63,524,959	E944A	probably benign	Het
Ptger3	T	A	3: 157,567,570	C185S	probably damaging	Het
Ptprk	T	C	10: 28,354,713	Y267H	probably damaging	Het
Pum2	A	G	12: 8,744,654	I715V	probably benign	Het
R3hdm1	T	C	1: 128,186,836	V518A	probably damaging	Het
Rab3d	T	C	9: 21,915,851	I28V	probably damaging	Het
Rad54b	T	C	4: 11,606,272	L560P	probably damaging	Het
Rgs20	A	G	1: 5,070,147		probably null	Het
Sesn1	T	A	10: 41,905,319	L460H	probably damaging	Het
Slc39a14	A	G	14: 70,316,436		probably null	Het
Slco6c1	T	A	1: 97,062,476	H663L	probably benign	Het
Snx13	T	A	12: 35,082,927	C63S	probably benign	Het
Strip2	T	C	6: 29,941,941		probably null	Het
Syncrip	A	G	9: 88,479,567		probably benign	Het
Taf15	A	G	11: 83,504,753		probably benign	Het
Tbc1d8	T	C	1: 39,405,287		probably null	Het
Tgm4	T	A	9: 123,048,549	C205*	probably null	Het
Tmem212	A	T	3: 27,886,479	L63Q	possibly damaging	Het
Tmem63a	G	A	1: 180,962,489		probably null	Het
Trpm5	C	A	7: 143,082,561	V525L	probably benign	Het
Ttn	A	G	2: 76,706,827	L34919P	probably damaging	Het
Ttn	T	C	2: 76,864,275		probably benign	Het
Tuba4a	T	C	1: 75,217,425	I4V	possibly damaging	Het
Ubr4	A	G	4: 139,473,542	D4679G	possibly damaging	Het
Usp2	T	G	9: 44,092,148	V448G	probably damaging	Het
Usp3	A	G	9: 66,545,742		probably null	Het
Zfp341	T	A	2: 154,628,801	V246E	probably damaging	Het

Other mutations in Ephx1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00820:Ephx1	APN	1	180999821	missense	possibly damaging	0.82
IGL00864:Ephx1	APN	1	180990451	missense	probably damaging	1.00
IGL00972:Ephx1	APN	1	180999800	missense	probably benign	0.02
IGL01577:Ephx1	APN	1	181001980	start codon destroyed	probably null	0.96
IGL02718:Ephx1	APN	1	180999786	missense	probably damaging	1.00
IGL03330:Ephx1	APN	1	180999806	missense	possibly damaging	0.53
R1190:Ephx1	UTSW	1	180993929	missense	probably benign	0.24
R1751:Ephx1	UTSW	1	180994677	missense	probably damaging	1.00
R1767:Ephx1	UTSW	1	180994677	missense	probably damaging	1.00
R2484:Ephx1	UTSW	1	180989972	missense	probably damaging	1.00
R3623:Ephx1	UTSW	1	180989933	missense	probably benign	0.35
R3696:Ephx1	UTSW	1	180989951	missense	probably benign	0.03
R4674:Ephx1	UTSW	1	180994691	missense	probably damaging	1.00
R4675:Ephx1	UTSW	1	180994691	missense	probably damaging	1.00
R4769:Ephx1	UTSW	1	180995978	missense	possibly damaging	0.62
R4883:Ephx1	UTSW	1	181001923	missense	possibly damaging	0.76
R6827:Ephx1	UTSW	1	180989888	missense	probably damaging	1.00
R6974:Ephx1	UTSW	1	180999722	critical splice donor site	probably null
R7147:Ephx1	UTSW	1	181001819	missense	probably damaging	0.96
R7847:Ephx1	UTSW	1	181001861	missense	probably benign	0.00
R7930:Ephx1	UTSW	1	181001861	missense	probably benign	0.00
Z1177:Ephx1	UTSW	1	180999769	missense	possibly damaging	0.94

Predicted Primers

PCR Primer
(F):5'- AATAGGACTTAGAGTGGTGCTGTC -3'
(R):5'- CACGTGGATGATAGTTGCTCC -3'

Sequencing Primer
(F):5'- ATGACAGTCTGGATGTCCCTTCAG -3'
(R):5'- ATGATAGTTGCTCCACAGGACTGTC -3'

Posted On

2014-11-12