Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00885:Ephx4'

27371

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Ephx4

Ensembl Gene

ENSMUSG00000033805

Gene Name

epoxide hydrolase 4

Synonyms

LOC384214, Abhd7

Accession Numbers

Genbank: NM_001001804

Essential gene?

Probably non essential (E-score: 0.234) question?

Stock #

IGL00885

Quality Score

Status

Chromosome

Chromosomal Location

107402736-107430035 bp(+) (GRCm38)

Type of Mutation

splice site

DNA Base Change (assembly)

T to C at 107406125 bp (GRCm38)

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

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 41 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrf2	A	T	17: 42,714,315		probably benign	Het
Adora2a	T	G	10: 75,333,451	F250V	probably damaging	Het
Atp8b5	T	C	4: 43,355,567	S516P	probably damaging	Het
Btbd16	A	G	7: 130,788,822	I150V	probably damaging	Het
Capn13	A	T	17: 73,339,425	I331N	possibly damaging	Het
Capzb	A	G	4: 139,287,050	S233G	probably benign	Het
Clasp2	A	G	9: 113,911,416	R1171G	probably damaging	Het
Col16a1	T	G	4: 130,096,910	I1419S	probably damaging	Het
Coro7	T	A	16: 4,635,026	Y286F	probably benign	Het
Crygd	C	T	1: 65,062,091	R115Q	probably benign	Het
Cyp11b2	T	C	15: 74,853,515	T252A	probably benign	Het
Daam1	T	A	12: 71,944,091	C160S	unknown	Het
Fbxo47	A	T	11: 97,878,120	D63E	probably benign	Het
Fgf3	A	T	7: 144,840,784		probably benign	Het
Fstl4	C	T	11: 53,148,982	T331I	possibly damaging	Het
Gm597	T	C	1: 28,776,845	E702G	unknown	Het
Gpr158	T	C	2: 21,649,021	F467S	probably damaging	Het
Igfbpl1	C	T	4: 45,826,478	V106I	probably damaging	Het
Ikzf2	T	C	1: 69,539,322	T271A	possibly damaging	Het
Kat14	T	A	2: 144,394,255	N302K	probably benign	Het
Kmt2c	G	T	5: 25,409,171	Q184K	possibly damaging	Het
Moxd2	A	G	6: 40,884,179		probably benign	Het
Nbeal2	C	A	9: 110,638,661	E479D	probably damaging	Het
Neo1	A	G	9: 58,888,463	L1231P	probably damaging	Het
Nfatc3	C	T	8: 106,099,177	P620L	probably damaging	Het
Nol9	T	C	4: 152,041,600	F253L	probably damaging	Het
Nutm2	T	A	13: 50,474,860	S653R	probably benign	Het
Olfr138	A	C	17: 38,274,899	I43L	probably benign	Het
Olfr1504	A	T	19: 13,888,168	M14K	probably benign	Het
Plcg1	A	G	2: 160,758,083	D921G	probably benign	Het
Plpp4	A	T	7: 129,321,533	I101F	probably damaging	Het
Psg17	A	T	7: 18,820,166	L53Q	probably damaging	Het
Ptpn4	A	T	1: 119,802,363	I20N	possibly damaging	Het
R3hdm1	A	T	1: 128,236,438	I1030L	probably damaging	Het
Rpl7	A	C	1: 16,102,583	S171A	possibly damaging	Het
Snx25	G	A	8: 46,038,476	T859M	probably damaging	Het
Tmem94	A	G	11: 115,795,328	M990V	probably damaging	Het
Tnnt2	A	G	1: 135,846,764		probably benign	Het
Ttn	T	C	2: 76,709,685	H34319R	possibly damaging	Het
Vmn1r72	A	G	7: 11,670,497	V8A	probably benign	Het
Zbtb41	A	G	1: 139,430,324	T457A	probably benign	Het

Other mutations in Ephx4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01382:Ephx4	APN	5	107429719	missense	probably damaging	1.00
IGL01916:Ephx4	APN	5	107406030	critical splice acceptor site	probably null
IGL03301:Ephx4	APN	5	107426864	missense	probably benign
G5030:Ephx4	UTSW	5	107429827	missense	probably damaging	0.99
R0055:Ephx4	UTSW	5	107413078	missense	probably damaging	1.00
R0055:Ephx4	UTSW	5	107413078	missense	probably damaging	1.00
R0408:Ephx4	UTSW	5	107413521	missense	probably damaging	1.00
R0413:Ephx4	UTSW	5	107403735	missense	probably benign	0.00
R0471:Ephx4	UTSW	5	107413513	missense	possibly damaging	0.51
R1570:Ephx4	UTSW	5	107419851	missense	probably damaging	1.00
R3700:Ephx4	UTSW	5	107402807	missense	probably benign	0.00
R4366:Ephx4	UTSW	5	107403813	unclassified	probably benign
R5895:Ephx4	UTSW	5	107429652	splice site	probably null
R5933:Ephx4	UTSW	5	107403765	splice site	probably null
R6326:Ephx4	UTSW	5	107406111	missense	probably damaging	1.00
R6505:Ephx4	UTSW	5	107403656	nonsense	probably null
R6606:Ephx4	UTSW	5	107413065	missense	probably damaging	1.00
R6848:Ephx4	UTSW	5	107426918	missense	probably damaging	1.00
R6901:Ephx4	UTSW	5	107413561	missense	probably benign	0.29
R7017:Ephx4	UTSW	5	107406114	missense	probably damaging	0.98
R7484:Ephx4	UTSW	5	107429746	missense	probably damaging	1.00
R7999:Ephx4	UTSW	5	107419833	missense	probably damaging	1.00
R8371:Ephx4	UTSW	5	107413518	missense	possibly damaging	0.94
R9030:Ephx4	UTSW	5	107429683	missense	possibly damaging	0.79
R9712:Ephx4	UTSW	5	107419781	missense	probably benign	0.12
X0019:Ephx4	UTSW	5	107419860	missense	possibly damaging	0.88

Posted On

2013-04-17