Mutagenetix > Incidental Mutation

Incidental Mutation 'R4674:Ephx1'

348669

Institutional Source

Beutler Lab

Gene Symbol

Ephx1

Ensembl Gene

ENSMUSG00000038776

Gene Name

epoxide hydrolase 1, microsomal

Synonyms

Eph1, Eph-1, mEH

MMRRC Submission

041929-MU

Accession Numbers

Essential gene?

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

Stock #

R4674 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

180817121-180845134 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 180822256 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Serine at position 220 (F220S)

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: F220S

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000047551
Gene: ENSMUSG00000038776
AA Change: F220S

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: F220S

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000106697
Gene: ENSMUSG00000038776
AA Change: F220S

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: F96S

SMART Domains

Protein: ENSMUSP00000114363
Gene: ENSMUSG00000038776
AA Change: F96S

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

0.9598

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.0%
20x: 94.6%

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: 84 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb1b	T	C	5: 8,860,615 (GRCm39)	I112T	probably benign	Het
Acvr1b	T	C	15: 101,100,939 (GRCm39)	I367T	possibly damaging	Het
Akr1b8	G	A	6: 34,333,359 (GRCm39)		probably null	Het
Ash1l	T	C	3: 88,979,783 (GRCm39)	V2769A	possibly damaging	Het
Asxl3	A	T	18: 22,650,795 (GRCm39)	D928V	probably damaging	Het
Atp1a4	A	T	1: 172,085,223 (GRCm39)	V66E	possibly damaging	Het
Cald1	AAGAGAGAGAGAGAG	AAGAGAGAGAGAG	6: 34,723,108 (GRCm39)		probably null	Het
Cbx2	T	A	11: 118,919,935 (GRCm39)	I500N	probably damaging	Het
Ccdc82	A	T	9: 13,252,260 (GRCm39)	H184L	probably benign	Het
Cd84	A	T	1: 171,700,887 (GRCm39)	H216L	possibly damaging	Het
Ceacam15	T	C	7: 16,407,410 (GRCm39)	T36A	probably benign	Het
Cebpd	A	G	16: 15,705,385 (GRCm39)	D66G	probably damaging	Het
Clec1b	C	A	6: 129,377,097 (GRCm39)	L47I	probably damaging	Het
Cracr2b	A	G	7: 141,043,451 (GRCm39)	D43G	probably damaging	Het
Crbn	T	A	6: 106,767,932 (GRCm39)	Q173L	possibly damaging	Het
Cspg4	T	C	9: 56,805,489 (GRCm39)	V2100A	probably damaging	Het
Cyp46a1	T	C	12: 108,324,345 (GRCm39)	L374P	probably damaging	Het
Dhx16	T	A	17: 36,196,831 (GRCm39)	V607E	probably damaging	Het
Dido1	A	G	2: 180,329,352 (GRCm39)	S357P	probably damaging	Het
Dnah6	T	A	6: 73,169,405 (GRCm39)	I399F	probably benign	Het
Dock10	T	C	1: 80,584,337 (GRCm39)	E123G	possibly damaging	Het
Dstyk	A	G	1: 132,391,128 (GRCm39)	D843G	probably benign	Het
Efcab12	C	A	6: 115,800,610 (GRCm39)	V138F	probably damaging	Het
Egf	A	G	3: 129,511,689 (GRCm39)	F493L	probably damaging	Het
Exoc6	T	C	19: 37,597,530 (GRCm39)	F644L	probably damaging	Het
F13b	A	G	1: 139,429,542 (GRCm39)	Y20C	unknown	Het
Fam184b	T	A	5: 45,740,230 (GRCm39)	K319*	probably null	Het
Flrt2	T	A	12: 95,747,462 (GRCm39)	L600*	probably null	Het
Gbgt1	T	C	2: 28,388,453 (GRCm39)	F46S	possibly damaging	Het
Gli2	T	C	1: 118,763,759 (GRCm39)	E1464G	probably damaging	Het
Hdac9	A	G	12: 34,423,959 (GRCm39)	V501A	possibly damaging	Het
Heca	T	C	10: 17,791,057 (GRCm39)	H333R	probably benign	Het
Hirip3	G	A	7: 126,463,834 (GRCm39)		probably null	Het
Igsf8	G	A	1: 172,146,479 (GRCm39)	W51*	probably null	Het
Kif21a	C	A	15: 90,824,748 (GRCm39)	R1342L	possibly damaging	Het
Krt73	T	C	15: 101,710,510 (GRCm39)	N75D	probably benign	Het
Macf1	T	A	4: 123,366,190 (GRCm39)	Y1292F	probably benign	Het
Macroh2a1	A	C	13: 56,230,997 (GRCm39)	C297G	possibly damaging	Het
Mapk14	A	G	17: 28,963,996 (GRCm39)		probably null	Het
Mgat5	T	A	1: 127,318,495 (GRCm39)	V330D	probably damaging	Het
Mrc2	G	A	11: 105,239,257 (GRCm39)		probably null	Het
Naip1	A	T	13: 100,580,682 (GRCm39)	F188L	probably damaging	Het
Ncoa3	T	C	2: 165,901,731 (GRCm39)	S1035P	probably benign	Het
Ndn	T	A	7: 61,998,570 (GRCm39)	W139R	probably damaging	Het
Nes	T	C	3: 87,879,102 (GRCm39)	V198A	possibly damaging	Het
Or4c107	G	T	2: 88,789,216 (GRCm39)	M135I	probably damaging	Het
Or4c35	A	G	2: 89,808,250 (GRCm39)	I43V	possibly damaging	Het
Or51ab3	T	G	7: 103,201,183 (GRCm39)	L64V	probably damaging	Het
Or52p1	T	A	7: 104,267,631 (GRCm39)	C248*	probably null	Het
Or5b111	T	A	19: 13,291,178 (GRCm39)	H157L	probably benign	Het
Or5p72	T	C	7: 108,022,309 (GRCm39)	V177A	possibly damaging	Het
Pcf11	G	A	7: 92,308,985 (GRCm39)		probably benign	Het
Pde1a	TCC	TC	2: 79,728,525 (GRCm39)		probably benign	Het
Pipox	T	G	11: 77,784,596 (GRCm39)	Q4P	probably benign	Het
Pla2g4c	C	T	7: 13,077,439 (GRCm39)	T327I	probably null	Het
Plppr1	C	T	4: 49,323,384 (GRCm39)	R225W	probably damaging	Het
Pnpla6	T	A	8: 3,571,412 (GRCm39)	V145D	probably damaging	Het
Pnpla7	T	C	2: 24,942,329 (GRCm39)	Y83H	probably damaging	Het
Rif1	T	A	2: 51,996,954 (GRCm39)	L970Q	probably null	Het
Rimklb	C	A	6: 122,433,242 (GRCm39)	E303*	probably null	Het
Rpl13a	A	T	7: 44,776,242 (GRCm39)		probably benign	Het
Rttn	T	A	18: 89,029,135 (GRCm39)		probably null	Het
Sf3b3	G	A	8: 111,571,137 (GRCm39)	R10W	probably damaging	Het
Skint4	G	A	4: 111,975,430 (GRCm39)	C130Y	probably damaging	Het
Snap91	A	G	9: 86,674,070 (GRCm39)	S593P	possibly damaging	Het
Ssb	A	G	2: 69,699,194 (GRCm39)	Q209R	probably benign	Het
Stap1	A	T	5: 86,229,044 (GRCm39)	I71L	probably benign	Het
Syna	C	A	5: 134,587,209 (GRCm39)	R580L	probably damaging	Het
Tacc2	T	A	7: 130,226,591 (GRCm39)	M1111K	possibly damaging	Het
Tanc2	T	C	11: 105,758,306 (GRCm39)	L689P	probably damaging	Het
Tasor2	T	C	13: 3,623,686 (GRCm39)	E1406G	possibly damaging	Het
Tcstv7b	T	C	13: 120,702,362 (GRCm39)	W53R	probably damaging	Het
Tdrd5	A	C	1: 156,105,005 (GRCm39)	C463W	probably damaging	Het
Tet1	A	G	10: 62,674,627 (GRCm39)	F1150L	probably damaging	Het
Tia1	T	A	6: 86,397,382 (GRCm39)	F118L	probably damaging	Het
Trav3-1	A	T	14: 52,818,460 (GRCm39)	T45S	possibly damaging	Het
Uaca	A	T	9: 60,761,711 (GRCm39)	Y235F	possibly damaging	Het
Ube4b	T	C	4: 149,415,827 (GRCm39)	N44S	possibly damaging	Het
Vmn2r93	T	A	17: 18,525,255 (GRCm39)	H304Q	probably benign	Het
Wdr18	A	G	10: 79,801,069 (GRCm39)	I161V	probably benign	Het
Zfp112	A	G	7: 23,826,399 (GRCm39)	H789R	probably damaging	Het
Zfp873	A	G	10: 81,895,814 (GRCm39)	T182A	possibly damaging	Het
Zscan2	T	A	7: 80,525,150 (GRCm39)	S290R	probably damaging	Het
Zup1	A	T	10: 33,824,980 (GRCm39)	D167E	possibly 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
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'- CAAGGAAGTCCCAAGTCTCAGAG -3'
(R):5'- GCAGGCGAATGTACACTTATGG -3'

Sequencing Primer
(F):5'- TCTCAGAGACTGCTGAAGAGG -3'
(R):5'- CAGGCGAATGTACACTTATGGTTTGG -3'

Posted On

2015-10-08