Mutagenetix > Incidental Mutation

Incidental Mutation 'R2437:Ephx1'

249621

Institutional Source

Beutler Lab

Gene Symbol

Ephx1

Ensembl Gene

ENSMUSG00000038776

Gene Name

epoxide hydrolase 1, microsomal

Synonyms

Eph1, Eph-1, mEH

MMRRC Submission

040398-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.160) question?

Stock #

R2437 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

180817121-180845134 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 180823661 bp (GRCm39)

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]

AlphaFold

Q9D379

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: 148,031,075 (GRCm39)	*635W	probably null	Het
Anxa2	A	G	9: 69,397,046 (GRCm39)	Y317C	probably damaging	Het
Arhgef26	T	C	3: 62,340,002 (GRCm39)	S675P	probably damaging	Het
Bltp1	T	A	3: 37,012,834 (GRCm39)		probably null	Het
Camk2d	A	G	3: 126,628,277 (GRCm39)	N53S	probably damaging	Het
Carns1	A	T	19: 4,215,782 (GRCm39)	M800K	possibly damaging	Het
Ces1f	A	T	8: 93,996,767 (GRCm39)		probably null	Het
Chrne	T	A	11: 70,506,086 (GRCm39)	D426V	possibly damaging	Het
Cntfr	T	C	4: 41,671,035 (GRCm39)	T43A	probably damaging	Het
Cntn5	A	T	9: 10,048,758 (GRCm39)	C63*	probably null	Het
Col12a1	G	A	9: 79,599,501 (GRCm39)	T884I	probably damaging	Het
Dnah5	T	C	15: 28,307,537 (GRCm39)		probably null	Het
Dnajc2	A	T	5: 21,965,389 (GRCm39)	S537R	probably benign	Het
Dnajc25	T	C	4: 59,020,234 (GRCm39)	I100T	probably damaging	Het
Fam163b	G	T	2: 27,002,698 (GRCm39)	P100T	probably damaging	Het
Fbxl9	A	G	8: 106,039,675 (GRCm39)		probably null	Het
Fgd5	A	T	6: 92,039,850 (GRCm39)	R1017*	probably null	Het
Fibin	A	T	2: 110,192,848 (GRCm39)	L98Q	probably damaging	Het
Fndc3b	A	T	3: 27,505,481 (GRCm39)	L929H	probably damaging	Het
Frem1	T	A	4: 82,918,410 (GRCm39)	S512C	probably damaging	Het
Gm4922	T	A	10: 18,659,829 (GRCm39)	M298L	probably benign	Het
Gstm2	G	A	3: 107,891,369 (GRCm39)		probably benign	Het
Gtf3c2	A	G	5: 31,317,042 (GRCm39)		probably null	Het
Ibtk	A	C	9: 85,590,178 (GRCm39)	L1026V	probably benign	Het
Il9	T	A	13: 56,629,684 (GRCm39)		probably benign	Het
Inpp4a	T	C	1: 37,432,037 (GRCm39)	S146P	probably damaging	Het
Kcnab1	G	T	3: 65,264,435 (GRCm39)		probably benign	Het
Mgat4c	T	C	10: 102,224,436 (GRCm39)	S217P	probably damaging	Het
Mr1	T	C	1: 155,008,277 (GRCm39)	M233V	probably benign	Het
Ncoa2	G	A	1: 13,218,584 (GRCm39)	T1415I	probably damaging	Het
Oasl2	G	A	5: 115,049,357 (GRCm39)	D486N	probably benign	Het
Or1j14	A	T	2: 36,418,258 (GRCm39)	Y278F	probably damaging	Het
Or9a7	G	A	6: 40,521,856 (GRCm39)	T19I	probably benign	Het
Or9s27	T	C	1: 92,516,688 (GRCm39)	I212T	possibly damaging	Het
Pcnx4	T	C	12: 72,588,587 (GRCm39)	F132L	probably damaging	Het
Pde5a	T	A	3: 122,636,702 (GRCm39)	L717Q	probably damaging	Het
Peli2	A	T	14: 48,465,389 (GRCm39)		probably benign	Het
Phf14	A	G	6: 11,962,657 (GRCm39)	S435G	probably damaging	Het
Plekhg1	T	A	10: 3,913,564 (GRCm39)	H1095Q	probably damaging	Het
Plekhh2	A	G	17: 84,893,907 (GRCm39)		probably null	Het
Plekho1	T	G	3: 95,899,497 (GRCm39)	N99H	probably damaging	Het
Plxnc1	T	A	10: 94,742,395 (GRCm39)	K457N	probably benign	Het
Ppp1r3a	T	C	6: 14,718,322 (GRCm39)	E864G	probably benign	Het
Prkab2	T	A	3: 97,574,715 (GRCm39)	L237Q	probably damaging	Het
Ptch1	T	G	13: 63,672,773 (GRCm39)	E944A	probably benign	Het
Ptger3	T	A	3: 157,273,207 (GRCm39)	C185S	probably damaging	Het
Ptprk	T	C	10: 28,230,709 (GRCm39)	Y267H	probably damaging	Het
Pum2	A	G	12: 8,794,654 (GRCm39)	I715V	probably benign	Het
R3hdm1	T	C	1: 128,114,573 (GRCm39)	V518A	probably damaging	Het
Rab3d	T	C	9: 21,827,147 (GRCm39)	I28V	probably damaging	Het
Rad54b	T	C	4: 11,606,272 (GRCm39)	L560P	probably damaging	Het
Rgs20	A	G	1: 5,140,370 (GRCm39)		probably null	Het
Sesn1	T	A	10: 41,781,315 (GRCm39)	L460H	probably damaging	Het
Slc39a14	A	G	14: 70,553,885 (GRCm39)		probably null	Het
Slco6c1	T	A	1: 96,990,201 (GRCm39)	H663L	probably benign	Het
Snx13	T	A	12: 35,132,926 (GRCm39)	C63S	probably benign	Het
Spmip4	T	A	6: 50,560,959 (GRCm39)	D212V	probably damaging	Het
Strip2	T	C	6: 29,941,940 (GRCm39)		probably null	Het
Syncrip	A	G	9: 88,361,620 (GRCm39)		probably benign	Het
Taf15	A	G	11: 83,395,579 (GRCm39)		probably benign	Het
Tbc1d8	T	C	1: 39,444,368 (GRCm39)		probably null	Het
Tgm4	T	A	9: 122,877,614 (GRCm39)	C205*	probably null	Het
Tmem212	A	T	3: 27,940,628 (GRCm39)	L63Q	possibly damaging	Het
Tmem63a	G	A	1: 180,790,054 (GRCm39)		probably null	Het
Trpm5	C	A	7: 142,636,298 (GRCm39)	V525L	probably benign	Het
Ttn	A	G	2: 76,537,171 (GRCm39)	L34919P	probably damaging	Het
Ttn	T	C	2: 76,694,619 (GRCm39)		probably benign	Het
Tuba4a	T	C	1: 75,194,069 (GRCm39)	I4V	possibly damaging	Het
Ubr4	A	G	4: 139,200,853 (GRCm39)	D4679G	possibly damaging	Het
Usp2	T	G	9: 44,003,445 (GRCm39)	V448G	probably damaging	Het
Usp3	A	G	9: 66,453,024 (GRCm39)		probably null	Het
Zfp341	T	A	2: 154,470,721 (GRCm39)	V246E	probably damaging	Het

Other mutations in Ephx1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00820:Ephx1	APN	1	180,827,386 (GRCm39)	missense	possibly damaging	0.82
IGL00864:Ephx1	APN	1	180,818,016 (GRCm39)	missense	probably damaging	1.00
IGL00972:Ephx1	APN	1	180,827,365 (GRCm39)	missense	probably benign	0.02
IGL01577:Ephx1	APN	1	180,829,545 (GRCm39)	start codon destroyed	probably null	0.96
IGL02718:Ephx1	APN	1	180,827,351 (GRCm39)	missense	probably damaging	1.00
IGL03330:Ephx1	APN	1	180,827,371 (GRCm39)	missense	possibly damaging	0.53
R1190:Ephx1	UTSW	1	180,821,494 (GRCm39)	missense	probably benign	0.24
R1751:Ephx1	UTSW	1	180,822,242 (GRCm39)	missense	probably damaging	1.00
R1767:Ephx1	UTSW	1	180,822,242 (GRCm39)	missense	probably damaging	1.00
R2484:Ephx1	UTSW	1	180,817,537 (GRCm39)	missense	probably damaging	1.00
R3623:Ephx1	UTSW	1	180,817,498 (GRCm39)	missense	probably benign	0.35
R3696:Ephx1	UTSW	1	180,817,516 (GRCm39)	missense	probably benign	0.03
R4674:Ephx1	UTSW	1	180,822,256 (GRCm39)	missense	probably damaging	1.00
R4675:Ephx1	UTSW	1	180,822,256 (GRCm39)	missense	probably damaging	1.00
R4769:Ephx1	UTSW	1	180,823,543 (GRCm39)	missense	possibly damaging	0.62
R4883:Ephx1	UTSW	1	180,829,488 (GRCm39)	missense	possibly damaging	0.76
R6827:Ephx1	UTSW	1	180,817,453 (GRCm39)	missense	probably damaging	1.00
R6974:Ephx1	UTSW	1	180,827,287 (GRCm39)	critical splice donor site	probably null
R7147:Ephx1	UTSW	1	180,829,384 (GRCm39)	missense	probably damaging	0.96
R7847:Ephx1	UTSW	1	180,829,426 (GRCm39)	missense	probably benign	0.00
R9598:Ephx1	UTSW	1	180,827,381 (GRCm39)	nonsense	probably null
Z1177:Ephx1	UTSW	1	180,827,334 (GRCm39)	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