Mutagenetix > Incidental Mutation

Incidental Mutation 'R7484:Ephx4'

579990

Institutional Source

Beutler Lab

Gene Symbol

Ephx4

Ensembl Gene

ENSMUSG00000033805

Gene Name

epoxide hydrolase 4

Synonyms

Abhd7, LOC384214

MMRRC Submission

045558-MU

Accession Numbers

Essential gene?

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

Stock #

R7484 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

107551379-107577901 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 107577612 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Arginine at position 312 (M312R)

Ref Sequence

ENSEMBL: ENSMUSP00000043764 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000049146] [ENSMUST00000166599]

AlphaFold

Q6IE26

Predicted Effect

probably damaging
Transcript: ENSMUST00000049146
AA Change: M312R

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

SMART Domains

Protein: ENSMUSP00000043764
Gene: ENSMUSG00000033805
AA Change: M312R

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

probably benign
Transcript: ENSMUST00000166599

SMART Domains

Protein: ENSMUSP00000127318
Gene: ENSMUSG00000033794

Domain	Start	End	E-Value	Type
transmembrane domain	63	85	N/A	INTRINSIC
low complexity region	106	122	N/A	INTRINSIC
PlsC	136	247	5.65e-14	SMART
Blast:PlsC	280	322	3e-10	BLAST
EFh	391	419	9.48e-3	SMART
EFh	428	456	6.6e-2	SMART

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.2%

Validation Efficiency

98% (65/66)

Allele List at MGI

Other mutations in this stock

Total: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aadacl4fm5	A	G	4: 144,504,521 (GRCm39)	L210P	probably damaging	Het
Acacb	G	A	5: 114,356,923 (GRCm39)	V1285I	probably damaging	Het
Acly	A	T	11: 100,386,789 (GRCm39)	I591N	probably damaging	Het
Acr	T	A	15: 89,457,427 (GRCm39)	V225E	probably damaging	Het
Actr8	A	G	14: 29,714,925 (GRCm39)	D580G	probably damaging	Het
Adamts12	C	A	15: 11,345,734 (GRCm39)	Q1592K	probably benign	Het
Aire	T	C	10: 77,878,404 (GRCm39)	E138G	probably damaging	Het
Apob	C	T	12: 8,056,884 (GRCm39)	Q1789*	probably null	Het
Cbx5	A	C	15: 103,114,256 (GRCm39)		probably null	Het
Cd300lb	A	T	11: 114,819,345 (GRCm39)	W95R	probably damaging	Het
Cdc16	A	G	8: 13,827,605 (GRCm39)	T504A	probably benign	Het
Cenpf	A	G	1: 189,389,018 (GRCm39)	S1605P	probably damaging	Het
Ckap2l	A	G	2: 129,114,455 (GRCm39)	V596A	possibly damaging	Het
Cntn1	T	C	15: 92,151,922 (GRCm39)	W454R	probably benign	Het
Crat	C	T	2: 30,294,577 (GRCm39)	R497Q	probably benign	Het
Csf2rb	A	G	15: 78,223,099 (GRCm39)	T104A	possibly damaging	Het
Cyp4a12b	A	G	4: 115,289,760 (GRCm39)	D209G	possibly damaging	Het
Ddx23	T	C	15: 98,546,570 (GRCm39)	E533G	probably damaging	Het
Dscaml1	A	G	9: 45,660,744 (GRCm39)		probably null	Het
Eif3l	T	G	15: 78,968,336 (GRCm39)	C202G	probably benign	Het
Erich6	A	T	3: 58,534,112 (GRCm39)		probably null	Het
Far2	G	A	6: 148,075,411 (GRCm39)	D424N	probably damaging	Het
Fat1	C	A	8: 45,489,221 (GRCm39)	N3497K	probably damaging	Het
Fstl3	G	A	10: 79,615,865 (GRCm39)	C117Y	probably damaging	Het
Fyb2	A	T	4: 104,870,499 (GRCm39)	H700L	probably benign	Het
Gm8356	T	A	14: 17,691,282 (GRCm39)	M128L	probably benign	Het
Golim4	G	T	3: 75,805,442 (GRCm39)		probably null	Het
Grm1	T	G	10: 10,622,403 (GRCm39)	D440A	probably benign	Het
Gtf2a1	A	G	12: 91,529,747 (GRCm39)	V322A	probably benign	Het
Hid1	T	C	11: 115,243,407 (GRCm39)		probably null	Het
Igfals	G	A	17: 25,098,962 (GRCm39)	V18M	possibly damaging	Het
Klk1b24	G	T	7: 43,839,688 (GRCm39)		probably null	Het
Lmbr1	T	C	5: 29,551,850 (GRCm39)		probably benign	Het
Lrrc40	T	C	3: 157,746,194 (GRCm39)	S90P	probably benign	Het
Mapk9	T	C	11: 49,763,663 (GRCm39)	Y185H	probably damaging	Het
Marveld2	C	T	13: 100,748,068 (GRCm39)	G337D	probably damaging	Het
Mga	G	T	2: 119,776,710 (GRCm39)	R1539L	probably damaging	Het
Mllt6	T	A	11: 97,563,442 (GRCm39)	S342T	probably benign	Het
Ms4a6c	T	C	19: 11,449,893 (GRCm39)		probably null	Het
Muc16	T	A	9: 18,558,064 (GRCm39)	H2743L	unknown	Het
Myl10	G	C	5: 136,726,825 (GRCm39)	V70L	probably benign	Het
Or10ag60	T	C	2: 87,438,281 (GRCm39)	F183S	probably damaging	Het
Or2l13	A	G	16: 19,305,753 (GRCm39)	H55R	possibly damaging	Het
Plcd3	T	G	11: 102,962,545 (GRCm39)	K635N	probably damaging	Het
Prkch	T	A	12: 73,632,301 (GRCm39)		probably null	Het
Rb1cc1	T	C	1: 6,344,441 (GRCm39)	V1570A	probably damaging	Het
Rp1	T	C	1: 4,415,704 (GRCm39)	N1803D	probably benign	Het
Rufy3	T	A	5: 88,746,331 (GRCm39)	V72E	probably benign	Het
Secisbp2l	G	A	2: 125,613,452 (GRCm39)	Q181*	probably null	Het
Sgcb	A	G	5: 73,797,188 (GRCm39)	F191L	possibly damaging	Het
Sgsh	T	A	11: 119,237,183 (GRCm39)	D477V	probably damaging	Het
Shoc1	A	T	4: 59,062,286 (GRCm39)	V924E	probably damaging	Het
Slc22a28	C	A	19: 8,048,492 (GRCm39)	S385I	probably benign	Het
Slc26a3	T	C	12: 31,497,787 (GRCm39)	V47A	probably benign	Het
Slco2a1	A	T	9: 102,945,185 (GRCm39)	I187F	probably damaging	Het
Sltm	T	C	9: 70,481,179 (GRCm39)	S344P	unknown	Het
Sort1	A	G	3: 108,246,141 (GRCm39)	T373A	probably damaging	Het
Stab1	A	G	14: 30,882,274 (GRCm39)	F474L	probably benign	Het
Tbc1d5	G	T	17: 51,224,573 (GRCm39)	A326E	possibly damaging	Het
Tcstv4	A	T	13: 120,770,017 (GRCm39)	K112N	probably damaging	Het
Vwa8	A	C	14: 79,219,674 (GRCm39)		probably null	Het
Wdr70	G	A	15: 7,951,562 (GRCm39)	T425I	probably benign	Het
Zfp30	T	C	7: 29,492,231 (GRCm39)	Y243H	probably benign	Het
Zfp974	A	T	7: 27,611,559 (GRCm39)	N55K	possibly damaging	Het
Zftraf1	A	G	15: 76,530,435 (GRCm39)	L295P	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
R4366:Ephx4	UTSW	5	107,551,679 (GRCm39)	unclassified	probably benign
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
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'- GGATAAGGCTCTTCTACCCTCC -3'
(R):5'- TCCATGAAAGACTCCCTGTAGG -3'

Sequencing Primer
(F):5'- CAAGAACCATTTTTCAGCCCTTTAGG -3'
(R):5'- CCCTGTAGGAGATAAAGTCAGTCTC -3'

Posted On

2019-10-07