Mutagenetix > Incidental Mutation

Incidental Mutation 'R8371:Ephx4'

646385

Institutional Source

Beutler Lab

Gene Symbol

Ephx4

Ensembl Gene

ENSMUSG00000033805

Gene Name

epoxide hydrolase 4

Synonyms

Abhd7, LOC384214

MMRRC Submission

067740-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.263) question?

Stock #

R8371 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

107551379-107577901 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 107561384 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Phenylalanine at position 164 (I164F)

Ref Sequence

ENSEMBL: ENSMUSP00000043764 (fasta)

Gene Model

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

AlphaFold

Q6IE26

Predicted Effect

possibly damaging
Transcript: ENSMUST00000049146
AA Change: I164F

PolyPhen 2 Score 0.940 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000043764
Gene: ENSMUSG00000033805
AA Change: I164F

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 damaging
Transcript: ENSMUST00000159968
AA Change: I109F

PolyPhen 2 Score 0.967 (Sensitivity: 0.77; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000125261
Gene: ENSMUSG00000033805
AA Change: I109F

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

possibly damaging
Transcript: ENSMUST00000161246
AA Change: I71F

PolyPhen 2 Score 0.940 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000123962
Gene: ENSMUSG00000033805
AA Change: I71F

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

possibly damaging
Transcript: ENSMUST00000161452
AA Change: I71F

PolyPhen 2 Score 0.940 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000124661
Gene: ENSMUSG00000033805
AA Change: I71F

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.7%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca8a	G	T	11: 109,945,473 (GRCm39)	Q1050K	probably benign	Het
B4galt5	A	G	2: 167,151,145 (GRCm39)	M121T	probably damaging	Het
Birc2	A	G	9: 7,849,427 (GRCm39)	L549P	probably damaging	Het
Cacna1b	T	C	2: 24,610,036 (GRCm39)	N368S	possibly damaging	Het
Cbr1	A	G	16: 93,406,779 (GRCm39)	E165G	probably damaging	Het
Ccdc178	T	C	18: 21,944,561 (GRCm39)	D866G	possibly damaging	Het
Cd40	G	A	2: 164,908,458 (GRCm39)	G178E	probably damaging	Het
Cers1	T	A	8: 70,782,223 (GRCm39)	L349H	probably benign	Het
Chd8	T	C	14: 52,470,275 (GRCm39)	K445R	probably benign	Het
Clca3a2	G	T	3: 144,513,114 (GRCm39)	S477*	probably null	Het
Clec4a1	T	A	6: 122,910,882 (GRCm39)	*246R	probably null	Het
CN725425	T	C	15: 91,124,973 (GRCm39)	I171T	probably benign	Het
Crybg3	A	G	16: 59,377,414 (GRCm39)	M1280T	probably benign	Het
Csf1r	A	T	18: 61,250,663 (GRCm39)	Q458L	probably benign	Het
Cyp3a11	A	T	5: 145,805,438 (GRCm39)	V193E	possibly damaging	Het
Cys1	A	G	12: 24,718,694 (GRCm39)	I53T	probably benign	Het
Dhrs3	A	C	4: 144,645,953 (GRCm39)		probably null	Het
Dhx57	T	C	17: 80,582,919 (GRCm39)	R229G	probably benign	Het
Dhx9	T	C	1: 153,331,961 (GRCm39)	N1336D	unknown	Het
Dmgdh	T	A	13: 93,845,238 (GRCm39)	H410Q	probably benign	Het
Dmxl1	T	A	18: 50,031,781 (GRCm39)	M2225K	probably benign	Het
Eif4g3	T	G	4: 137,824,156 (GRCm39)	Y80D	probably damaging	Het
Eppk1	C	T	15: 75,994,319 (GRCm39)	R854Q	probably benign	Het
Fhl4	G	A	10: 84,934,637 (GRCm39)	A48V	probably benign	Het
Fmn2	T	C	1: 174,437,173 (GRCm39)	L1048S	unknown	Het
Gemin5	T	C	11: 58,017,384 (GRCm39)	M1212V	probably benign	Het
Gm9195	C	T	14: 72,697,899 (GRCm39)	V1294I	probably benign	Het
Gpr55	A	T	1: 85,868,849 (GRCm39)	V244E	probably damaging	Het
Hgfac	T	A	5: 35,202,787 (GRCm39)	F429Y	probably damaging	Het
Jade2	T	A	11: 51,715,959 (GRCm39)	E415D	probably benign	Het
Kcnj4	T	A	15: 79,369,342 (GRCm39)	I213F	probably damaging	Het
Kcnq5	G	A	1: 21,549,648 (GRCm39)	R360C	probably damaging	Het
Klhl33	C	T	14: 51,129,689 (GRCm39)	R312Q	probably damaging	Het
Krt82	T	C	15: 101,453,546 (GRCm39)	E280G	probably benign	Het
Lemd1	C	A	1: 132,156,687 (GRCm39)	Q40K	probably damaging	Het
Lmo7	T	C	14: 102,124,444 (GRCm39)	L423P	possibly damaging	Het
Lrp8	A	G	4: 107,726,268 (GRCm39)	Y773C	probably damaging	Het
Miga2	AAGAG	AAG	2: 30,265,755 (GRCm39)		probably null	Het
Mroh8	A	T	2: 157,094,896 (GRCm39)	Y363*	probably null	Het
Or2n1c	G	A	17: 38,519,189 (GRCm39)	A18T	probably benign	Het
Or51a25	C	A	7: 102,372,790 (GRCm39)	K302N	probably damaging	Het
Or5p61	G	A	7: 107,758,435 (GRCm39)	T215I	probably benign	Het
Pcdha2	T	C	18: 37,073,316 (GRCm39)	Y316H	possibly damaging	Het
Pcdha6	T	A	18: 37,102,920 (GRCm39)	C704*	probably null	Het
Pik3c2g	G	A	6: 139,881,782 (GRCm39)	V923M	unknown	Het
Rhd	A	G	4: 134,603,694 (GRCm39)	S72G	probably benign	Het
Rhot1	T	C	11: 80,134,292 (GRCm39)	L295P	probably damaging	Het
Rrp1b	A	G	17: 32,268,458 (GRCm39)	E139G	possibly damaging	Het
Scnn1a	T	G	6: 125,320,806 (GRCm39)	Y620D	possibly damaging	Het
Serpinb12	A	T	1: 106,884,135 (GRCm39)	I294L	probably benign	Het
Serpinb3d	T	C	1: 107,008,469 (GRCm39)	D132G	probably damaging	Het
Slc26a3	A	T	12: 31,502,541 (GRCm39)	D254V	probably damaging	Het
Srrm1	A	T	4: 135,052,532 (GRCm39)	I614N	unknown	Het
Stt3b	A	G	9: 115,095,243 (GRCm39)	Y263H	probably damaging	Het
Taf7	T	A	18: 37,776,552 (GRCm39)	K5I	probably damaging	Het
Tbck	C	A	3: 132,458,285 (GRCm39)	H638Q	possibly damaging	Het
Tnfsf9	A	C	17: 57,412,541 (GRCm39)	D37A	probably benign	Het
Trim71	C	A	9: 114,344,857 (GRCm39)	V354F	probably benign	Het
Tspoap1	T	G	11: 87,669,127 (GRCm39)	C1467G	probably benign	Het
Xirp1	C	T	9: 119,848,499 (GRCm39)	R128Q	possibly damaging	Het
Zc3h12d	GCCC	GCC	10: 7,715,735 (GRCm39)		probably null	Het
Zfhx2	T	C	14: 55,301,549 (GRCm39)	D2145G	probably damaging	Het
Zfy2	T	C	Y: 2,117,168 (GRCm39)	T220A	probably benign	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
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
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'- TCAAGCTACTGGCCCTGTTC -3'
(R):5'- CATACAAGTTGGATTCCTGGTGG -3'

Sequencing Primer
(F):5'- CTGGTAAGATAGTGAGTGGT -3'
(R):5'- CAAGTTGGATTCCTGGTGGTTTCTG -3'

Posted On

2020-09-02