Mutagenetix > Incidental Mutation

Incidental Mutation 'R4883:Ephx1'

375370

Institutional Source

Beutler Lab

Gene Symbol

Ephx1

Ensembl Gene

ENSMUSG00000038776

Gene Name

epoxide hydrolase 1, microsomal

Synonyms

Eph1, Eph-1, mEH

MMRRC Submission

042491-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.137) question?

Stock #

R4883 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

180817121-180845134 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 180829488 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Tyrosine at position 20 (S20Y)

Ref Sequence

ENSEMBL: ENSMUSP00000106697 (fasta)

Gene Model

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

AlphaFold

Q9D379

Predicted Effect

possibly damaging
Transcript: ENSMUST00000036928
AA Change: S20Y

PolyPhen 2 Score 0.756 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000047551
Gene: ENSMUSG00000038776
AA Change: S20Y

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

possibly damaging
Transcript: ENSMUST00000111068
AA Change: S20Y

PolyPhen 2 Score 0.756 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000106697
Gene: ENSMUSG00000038776
AA Change: S20Y

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

possibly damaging
Transcript: ENSMUST00000147585
AA Change: S20Y

PolyPhen 2 Score 0.623 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000122671
Gene: ENSMUSG00000038776
AA Change: S20Y

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

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 96.9%
20x: 94.2%

Validation Efficiency

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: 96 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca5	T	C	11: 110,217,457 (GRCm39)	D133G	probably damaging	Het
Abcg4	G	T	9: 44,190,616 (GRCm39)	H55Q	probably damaging	Het
Acaca	T	A	11: 84,142,116 (GRCm39)	V641E	probably benign	Het
Adam28	T	C	14: 68,875,552 (GRCm39)	I229V	probably damaging	Het
Adgrl3	T	A	5: 81,837,493 (GRCm39)	I793N	probably damaging	Het
Akr1d1	A	T	6: 37,535,336 (GRCm39)	D240V	possibly damaging	Het
Arhgef25	T	C	10: 127,018,802 (GRCm39)	D548G	probably benign	Het
Asl	A	G	5: 130,042,802 (GRCm39)		probably null	Het
Atg14	C	T	14: 47,788,771 (GRCm39)	R194Q	probably damaging	Het
BC004004	T	A	17: 29,501,166 (GRCm39)	F38L	probably damaging	Het
Btg1	T	C	10: 96,453,259 (GRCm39)	F25L	probably benign	Het
Btrc	C	T	19: 45,445,026 (GRCm39)	P35S	probably benign	Het
Calcr	T	A	6: 3,714,705 (GRCm39)	N142Y	probably damaging	Het
Ccdc138	A	G	10: 58,397,818 (GRCm39)	I553V	probably benign	Het
Ccdc198	T	A	14: 49,482,560 (GRCm39)	N52I	probably damaging	Het
Cdc42	T	A	4: 137,056,115 (GRCm39)	N132I	probably benign	Het
Ces1e	A	G	8: 93,950,716 (GRCm39)	S22P	probably benign	Het
Clmn	G	T	12: 104,748,307 (GRCm39)	D413E	probably benign	Het
Cramp1	T	C	17: 25,201,293 (GRCm39)	T730A	probably benign	Het
Dnah5	A	T	15: 28,343,784 (GRCm39)	M2395L	probably benign	Het
Exoc5	T	G	14: 49,289,821 (GRCm39)	E19A	probably damaging	Het
Fam120b	T	C	17: 15,623,294 (GRCm39)	L424P	probably benign	Het
Fam89a	G	A	8: 125,467,823 (GRCm39)	T163I	possibly damaging	Het
Fcrl2	G	A	3: 87,166,922 (GRCm39)	L24F	possibly damaging	Het
Fgd6	G	T	10: 93,975,715 (GRCm39)	V1377L	probably benign	Het
Glud1	T	A	14: 34,057,347 (GRCm39)	I337K	possibly damaging	Het
Gm6370	T	A	5: 146,430,736 (GRCm39)	I303N	probably benign	Het
Gm7995	T	C	14: 42,133,383 (GRCm39)	Y88H	probably damaging	Het
Gsdma3	T	C	11: 98,520,393 (GRCm39)		probably null	Het
Gsdmc2	T	C	15: 63,707,614 (GRCm39)	D60G	probably damaging	Het
Hcn1	T	A	13: 118,039,431 (GRCm39)		probably null	Het
Hectd1	A	T	12: 51,831,030 (GRCm39)	C936*	probably null	Het
Herc4	T	A	10: 63,121,433 (GRCm39)	S358T	probably benign	Het
Hk3	A	G	13: 55,158,735 (GRCm39)	C515R	probably benign	Het
Ighg1	A	G	12: 113,291,138 (GRCm39)		probably benign	Het
Iqgap3	T	A	3: 88,014,842 (GRCm39)	C853S	probably benign	Het
Irx4	G	A	13: 73,415,750 (GRCm39)	A180T	probably damaging	Het
Kif20b	A	G	19: 34,943,522 (GRCm39)	T1441A	probably benign	Het
Lifr	A	G	15: 7,215,106 (GRCm39)	K738E	possibly damaging	Het
Lmntd2	A	T	7: 140,792,531 (GRCm39)	S218T	probably damaging	Het
Lnx1	A	T	5: 74,768,530 (GRCm39)	W353R	probably benign	Het
Lrfn3	G	T	7: 30,055,238 (GRCm39)	P569Q	possibly damaging	Het
Mamstr	A	G	7: 45,293,838 (GRCm39)	I11V	probably benign	Het
Med31	T	C	11: 72,104,975 (GRCm39)	N32S	possibly damaging	Het
Mob3c	A	T	4: 115,690,928 (GRCm39)	I173F	probably benign	Het
Morc3	A	G	16: 93,667,250 (GRCm39)		probably null	Het
Mphosph9	T	C	5: 124,437,108 (GRCm39)	K412R	probably damaging	Het
Mtcl3	A	T	10: 29,072,537 (GRCm39)	N610Y	probably damaging	Het
Mthfd1l	C	T	10: 3,957,775 (GRCm39)	P271S	probably benign	Het
Ncam1	C	T	9: 49,453,183 (GRCm39)		probably null	Het
Ncbp3	T	A	11: 72,960,578 (GRCm39)	Y279N	probably damaging	Het
Ncoa6	G	A	2: 155,248,687 (GRCm39)	T1539I	probably benign	Het
Nedd4	G	A	9: 72,647,515 (GRCm39)		probably null	Het
Neil1	A	G	9: 57,054,206 (GRCm39)	V38A	probably damaging	Het
Ngf	T	A	3: 102,427,961 (GRCm39)	F237I	probably damaging	Het
Nol3	A	G	8: 106,005,888 (GRCm39)	Q94R	possibly damaging	Het
Obox1	A	G	7: 15,290,263 (GRCm39)	N202S	probably damaging	Het
Odc1	T	A	12: 17,597,386 (GRCm39)	N29K	possibly damaging	Het
Or2b7	C	T	13: 21,739,658 (GRCm39)	R178H	probably benign	Het
Or2h15	T	C	17: 38,441,508 (GRCm39)	T192A	probably damaging	Het
Or4a69	C	T	2: 89,312,652 (GRCm39)	V276I	probably benign	Het
Or52a20	A	C	7: 103,365,914 (GRCm39)	I38L	probably benign	Het
P2rx7	T	A	5: 122,819,129 (GRCm39)	V517E	probably damaging	Het
Parm1	A	G	5: 91,741,775 (GRCm39)	T48A	possibly damaging	Het
Pcdh9	T	A	14: 94,126,164 (GRCm39)	D2V	possibly damaging	Het
Pgm3	G	T	9: 86,451,378 (GRCm39)	T92N	probably damaging	Het
Plcg2	G	T	8: 118,333,872 (GRCm39)	G882*	probably null	Het
Ptpn14	C	T	1: 189,582,997 (GRCm39)	P615S	probably damaging	Het
Ptprk	A	T	10: 28,464,928 (GRCm39)	Y1244F	probably damaging	Het
Rere	G	A	4: 150,700,510 (GRCm39)	A1162T	probably damaging	Het
Rfx2	T	C	17: 57,090,747 (GRCm39)	E391G	probably damaging	Het
Sema4c	A	G	1: 36,591,097 (GRCm39)	V414A	probably damaging	Het
Serpinb10	A	T	1: 107,468,681 (GRCm39)	N185I	probably damaging	Het
Shroom3	T	G	5: 93,098,993 (GRCm39)	M1410R	probably benign	Het
Slc13a1	A	T	6: 24,134,356 (GRCm39)	S176T	probably benign	Het
Sntb1	A	T	15: 55,506,198 (GRCm39)	Y458*	probably null	Het
Sorcs1	C	T	19: 50,220,741 (GRCm39)	V570I	probably benign	Het
Sp8	T	A	12: 118,812,805 (GRCm39)	V220E	probably damaging	Het
Spry1	C	T	3: 37,696,868 (GRCm39)	T37M	possibly damaging	Het
Sspo	A	T	6: 48,437,756 (GRCm39)	H1305L	probably benign	Het
Tbc1d22a	A	G	15: 86,381,117 (GRCm39)	D509G	possibly damaging	Het
Tmem108	A	T	9: 103,376,276 (GRCm39)	V391D	possibly damaging	Het
Tmem132d	T	A	5: 128,346,366 (GRCm39)	H52L	possibly damaging	Het
Tmem132d	T	A	5: 128,346,364 (GRCm39)	I53F	probably damaging	Het
Tnnt2	A	T	1: 135,775,496 (GRCm39)	R87*	probably null	Het
Ube3a	A	T	7: 58,893,198 (GRCm39)	M1L	probably benign	Het
Unc79	A	G	12: 103,060,592 (GRCm39)	T1119A	probably damaging	Het
Usf3	A	T	16: 44,039,942 (GRCm39)	H1474L	probably damaging	Het
Vcpip1	G	A	1: 9,817,423 (GRCm39)	T320I	probably damaging	Het
Vmn1r56	A	G	7: 5,199,443 (GRCm39)	L58P	probably damaging	Het
Wdr53	A	T	16: 32,075,796 (GRCm39)	K334*	probably null	Het
Zbtb40	T	A	4: 136,728,241 (GRCm39)	R459W	probably benign	Het
Zfc3h1	T	A	10: 115,246,547 (GRCm39)	L878Q	probably damaging	Het
Zfp286	T	C	11: 62,671,455 (GRCm39)	D206G	probably benign	Het
Zfp46	T	A	4: 136,017,792 (GRCm39)	C209S	probably damaging	Het
Zup1	G	T	10: 33,825,038 (GRCm39)	T148K	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
R2437:Ephx1	UTSW	1	180,823,661 (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
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'- CAAAGCTCCTTCCTCAGTCATG -3'
(R):5'- TCCGGGAGTGGATCATACAG -3'

Sequencing Primer
(F):5'- TCCCAGGGGAACACAGCAG -3'
(R):5'- CTCTAAGTTCCATCAGGGTGACAG -3'

Posted On

2016-03-17