Mutagenetix > Incidental Mutation

Incidental Mutation 'R4366:Ephx4'

325749

Institutional Source

Beutler Lab

Gene Symbol

Ephx4

Ensembl Gene

ENSMUSG00000033805

Gene Name

epoxide hydrolase 4

Synonyms

Abhd7, LOC384214

MMRRC Submission

041114-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.291) question?

Stock #

R4366 (G1)

Quality Score

196

Status

Validated

Chromosome

Chromosomal Location

107551379-107577901 bp(+) (GRCm39)

Type of Mutation

unclassified

DNA Base Change (assembly)

A to G at 107551679 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000124661 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000049146] [ENSMUST00000159968] [ENSMUST00000161246] [ENSMUST00000161452]

AlphaFold

Q6IE26

Predicted Effect

probably benign
Transcript: ENSMUST00000049146

SMART Domains

Protein: ENSMUSP00000043764
Gene: ENSMUSG00000033805

Domain	Start	End	E-Value	Type
transmembrane domain	13	35	N/A	INTRINSIC
Pfam:Hydrolase_4	88	203	2.4e-11	PFAM
Pfam:Abhydrolase_1	92	341	6.6e-27	PFAM
Pfam:Abhydrolase_5	93	335	5.7e-15	PFAM
Pfam:Abhydrolase_6	94	346	2.1e-21	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000082620

Predicted Effect

probably benign
Transcript: ENSMUST00000159968

SMART Domains

Protein: ENSMUSP00000125261
Gene: ENSMUSG00000033805

Domain	Start	End	E-Value	Type
Pfam:Abhydrolase_5	38	142	7e-12	PFAM
Pfam:Abhydrolase_6	39	142	1.3e-27	PFAM
Pfam:Abhydrolase_1	63	142	5.7e-17	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000161246

SMART Domains

Protein: ENSMUSP00000123962
Gene: ENSMUSG00000033805

Domain	Start	End	E-Value	Type
Pfam:Abhydrolase_6	1	73	4.8e-17	PFAM
Pfam:Abhydrolase_1	25	73	7.7e-8	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000161452

SMART Domains

Protein: ENSMUSP00000124661
Gene: ENSMUSG00000033805

Domain	Start	End	E-Value	Type
Pfam:Abhydrolase_5	1	93	2.1e-11	PFAM
Pfam:Abhydrolase_6	1	94	5e-26	PFAM
Pfam:Abhydrolase_1	25	94	5.7e-17	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000171723

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000199508

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.3%
3x: 98.5%
10x: 96.8%
20x: 93.7%

Validation Efficiency

95% (57/60)

Allele List at MGI

Other mutations in this stock

Total: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrf5	A	C	17: 43,752,860 (GRCm39)	T396P	probably damaging	Het
Apob	A	T	12: 8,066,083 (GRCm39)	I4318F	possibly damaging	Het
Apol7c	T	G	15: 77,410,589 (GRCm39)	D119A	probably benign	Het
App	G	T	16: 84,853,321 (GRCm39)	D252E	unknown	Het
C4a	T	A	17: 35,033,885 (GRCm39)		noncoding transcript	Het
Cacna1b	T	C	2: 24,592,632 (GRCm39)	Y515C	probably damaging	Het
Cacna1f	G	T	X: 7,476,213 (GRCm39)	A123S	probably damaging	Het
Cldn6	G	C	17: 23,900,494 (GRCm39)	A153P	probably benign	Het
Cmya5	T	C	13: 93,228,464 (GRCm39)	N2208S	probably benign	Het
Csnk1g1	A	G	9: 65,927,135 (GRCm39)	T101A	probably benign	Het
Ddx46	T	A	13: 55,811,049 (GRCm39)	D544E	probably benign	Het
Dmxl1	T	A	18: 50,011,084 (GRCm39)	C1080*	probably null	Het
Dst	T	C	1: 34,290,959 (GRCm39)	S3335P	probably damaging	Het
Efnb3	T	C	11: 69,446,771 (GRCm39)	K313R	probably damaging	Het
Elf2	G	A	3: 51,215,570 (GRCm39)	Q47*	probably null	Het
Epc2	A	G	2: 49,437,566 (GRCm39)	K657E	possibly damaging	Het
Ereg	T	C	5: 91,234,659 (GRCm39)	I24T	probably benign	Het
Evc2	C	A	5: 37,496,013 (GRCm39)	A41D	possibly damaging	Het
Fkbp15	A	G	4: 62,254,651 (GRCm39)	V283A	probably benign	Het
Flrt3	T	C	2: 140,502,327 (GRCm39)	T434A	probably damaging	Het
Gm572	A	G	4: 148,739,322 (GRCm39)	D50G	possibly damaging	Het
Hecw1	C	T	13: 14,490,749 (GRCm39)	D748N	probably damaging	Het
Hivep3	A	C	4: 119,953,286 (GRCm39)	H534P	possibly damaging	Het
Hspa4l	C	A	3: 40,721,241 (GRCm39)		probably null	Het
Ipo7	T	C	7: 109,628,919 (GRCm39)	M63T	possibly damaging	Het
Ipo7	A	T	7: 109,647,423 (GRCm39)	T614S	possibly damaging	Het
Krt87	T	G	15: 101,385,395 (GRCm39)	M326L	probably benign	Het
Mbd5	T	A	2: 49,162,978 (GRCm39)	N261K	probably damaging	Het
Mcam	T	A	9: 44,045,994 (GRCm39)	L3Q	probably damaging	Het
Mcoln3	C	A	3: 145,846,247 (GRCm39)	T519K	possibly damaging	Het
Mideas	C	T	12: 84,203,245 (GRCm39)	G886S	probably benign	Het
Mrgprx1	C	A	7: 47,670,941 (GRCm39)	A269S	probably damaging	Het
Mypn	T	C	10: 63,028,487 (GRCm39)	E192G	probably benign	Het
Nup205	C	A	6: 35,168,962 (GRCm39)	P397Q	probably benign	Het
Obsl1	A	C	1: 75,464,693 (GRCm39)	L1576R	possibly damaging	Het
Ofcc1	A	G	13: 40,168,937 (GRCm39)	S817P	probably benign	Het
Or6c210	A	T	10: 129,496,400 (GRCm39)	M242L	probably benign	Het
Or8b12c	A	T	9: 37,715,486 (GRCm39)	H93L	probably benign	Het
Pcdhgb7	A	G	18: 37,887,125 (GRCm39)	Y765C	possibly damaging	Het
Pde7a	A	G	3: 19,365,026 (GRCm39)		probably null	Het
Phip	C	T	9: 82,782,922 (GRCm39)		probably benign	Het
Rhbdl2	T	A	4: 123,703,728 (GRCm39)	M1K	probably null	Het
Ripor2	C	T	13: 24,905,694 (GRCm39)	P947S	probably benign	Het
Sf3a3	A	G	4: 124,618,932 (GRCm39)	T298A	probably benign	Het
Slc25a29	C	T	12: 108,797,097 (GRCm39)		probably benign	Het
Spinkl	T	G	18: 44,307,650 (GRCm39)	T4P	possibly damaging	Het
Stk33	G	A	7: 108,879,002 (GRCm39)	S449L	probably benign	Het
Suz12	T	A	11: 79,892,988 (GRCm39)		probably benign	Het
Timp2	T	A	11: 118,201,497 (GRCm39)	I124F	probably damaging	Het
Tlr1	C	T	5: 65,083,180 (GRCm39)	D466N	probably benign	Het
Tmem200b	A	G	4: 131,649,781 (GRCm39)	I234V	possibly damaging	Het
Ubr1	C	A	2: 120,801,084 (GRCm39)		probably benign	Het
Usp33	C	A	3: 152,074,149 (GRCm39)	Q332K	probably benign	Het
Zfr	A	G	15: 12,156,416 (GRCm39)	E634G	probably damaging	Het

Other mutations in Ephx4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00885:Ephx4	APN	5	107,553,991 (GRCm39)	splice site	probably benign
IGL01382:Ephx4	APN	5	107,577,585 (GRCm39)	missense	probably damaging	1.00
IGL01916:Ephx4	APN	5	107,553,896 (GRCm39)	critical splice acceptor site	probably null
IGL03301:Ephx4	APN	5	107,574,730 (GRCm39)	missense	probably benign
G5030:Ephx4	UTSW	5	107,577,693 (GRCm39)	missense	probably damaging	0.99
R0055:Ephx4	UTSW	5	107,560,944 (GRCm39)	missense	probably damaging	1.00
R0055:Ephx4	UTSW	5	107,560,944 (GRCm39)	missense	probably damaging	1.00
R0408:Ephx4	UTSW	5	107,561,387 (GRCm39)	missense	probably damaging	1.00
R0413:Ephx4	UTSW	5	107,551,601 (GRCm39)	missense	probably benign	0.00
R0471:Ephx4	UTSW	5	107,561,379 (GRCm39)	missense	possibly damaging	0.51
R1570:Ephx4	UTSW	5	107,567,717 (GRCm39)	missense	probably damaging	1.00
R3700:Ephx4	UTSW	5	107,550,673 (GRCm39)	missense	probably benign	0.00
R5895:Ephx4	UTSW	5	107,577,518 (GRCm39)	splice site	probably null
R5933:Ephx4	UTSW	5	107,551,631 (GRCm39)	splice site	probably null
R6326:Ephx4	UTSW	5	107,553,977 (GRCm39)	missense	probably damaging	1.00
R6505:Ephx4	UTSW	5	107,551,522 (GRCm39)	nonsense	probably null
R6606:Ephx4	UTSW	5	107,560,931 (GRCm39)	missense	probably damaging	1.00
R6848:Ephx4	UTSW	5	107,574,784 (GRCm39)	missense	probably damaging	1.00
R6901:Ephx4	UTSW	5	107,561,427 (GRCm39)	missense	probably benign	0.29
R7017:Ephx4	UTSW	5	107,553,980 (GRCm39)	missense	probably damaging	0.98
R7484:Ephx4	UTSW	5	107,577,612 (GRCm39)	missense	probably damaging	1.00
R7999:Ephx4	UTSW	5	107,567,699 (GRCm39)	missense	probably damaging	1.00
R8371:Ephx4	UTSW	5	107,561,384 (GRCm39)	missense	possibly damaging	0.94
R9030:Ephx4	UTSW	5	107,577,549 (GRCm39)	missense	possibly damaging	0.79
R9712:Ephx4	UTSW	5	107,567,647 (GRCm39)	missense	probably benign	0.12
X0019:Ephx4	UTSW	5	107,567,726 (GRCm39)	missense	possibly damaging	0.88

Predicted Primers

PCR Primer
(F):5'- TCTACTGGTCCCTGGTGTAC -3'
(R):5'- CGTTCTGAAACACGCACCTC -3'

Sequencing Primer
(F):5'- TCCCTGGTGTACGGCTACTG -3'
(R):5'- ACACACACACATAGGTTAAGGAG -3'

Posted On

2015-07-06