Mutagenetix > Incidental Mutation

Incidental Mutation 'R5712:Epx'

450962

Institutional Source

Beutler Lab

Gene Symbol

Epx

Ensembl Gene

ENSMUSG00000052234

Gene Name

eosinophil peroxidase

Synonyms

EPO

MMRRC Submission

043334-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.088) question?

Stock #

R5712 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

87754826-87766362 bp(-) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

A to T at 87765679 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Stop codon at position 93 (Y93*)

Ref Sequence

ENSEMBL: ENSMUSP00000050497 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000049768]

AlphaFold

P49290

Predicted Effect

probably null
Transcript: ENSMUST00000049768
AA Change: Y93*

SMART Domains

Protein: ENSMUSP00000050497
Gene: ENSMUSG00000052234
AA Change: Y93*

Domain	Start	End	E-Value	Type
signal peptide	1	23	N/A	INTRINSIC
Pfam:An_peroxidase	146	690	8.3e-184	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000125590

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.2%
20x: 95.2%

Validation Efficiency

MGI Phenotype

FUNCTION: This gene encodes a member of the peroxidase superfamily of enzymes that is produced by eosinophils and plays a critical role in eliminating tissue-invasive parasites. The encoded preproprotein undergoes proteolytic processing to generate a heterodimeric enzyme that forms a predominant component of the intracellular granules of eosinophils. Mice lacking the encoded protein exhibit resistance to ulcerative colitis induced by dextran sulfate. [provided by RefSeq, Jul 2016]
PHENOTYPE: Targeted deletion of this gene results in ultrastructural changes of the eosinophil secondary granule but does not significantly alter the course of inflammation or development of allergic pulmonary pathologies in an ovalbumin-challenge model of pulmonary inflammation. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700018F24Rik	A	G	5: 144,981,563 (GRCm39)	T133A	probably benign	Het
Adcy8	C	T	15: 64,626,715 (GRCm39)	E708K	probably damaging	Het
Alkbh1	A	G	12: 87,475,883 (GRCm39)	C300R	probably benign	Het
Arhgap11a	T	C	2: 113,675,646 (GRCm39)	N52D	probably benign	Het
Ash1l	T	A	3: 88,959,297 (GRCm39)	S2225T	probably damaging	Het
Aspn	A	T	13: 49,716,995 (GRCm39)	Y257F	probably damaging	Het
Atp2b4	A	C	1: 133,658,278 (GRCm39)	V544G	probably damaging	Het
Bclaf1	T	G	10: 20,209,277 (GRCm39)	Y498D	probably damaging	Het
Cacna1d	A	G	14: 29,796,954 (GRCm39)	I1520T	probably damaging	Het
Castor1	T	C	11: 4,168,378 (GRCm39)	L22P	probably damaging	Het
Cfap57	G	T	4: 118,471,992 (GRCm39)	P129Q	probably damaging	Het
Clcn3	A	G	8: 61,390,332 (GRCm39)		probably null	Het
Erich6b	T	A	14: 75,896,340 (GRCm39)	D75E	possibly damaging	Het
Exoc3l4	T	A	12: 111,390,476 (GRCm39)	Y350*	probably null	Het
Fam13a	T	A	6: 58,933,684 (GRCm39)	D302V	probably damaging	Het
Fbxo17	G	A	7: 28,436,897 (GRCm39)	R284H	probably damaging	Het
Fga	C	T	3: 82,940,440 (GRCm39)	T698I	possibly damaging	Het
Fsip2	T	C	2: 82,839,192 (GRCm39)	S6987P	possibly damaging	Het
Gbp9	T	A	5: 105,242,421 (GRCm39)	N106I	possibly damaging	Het
Gls	T	A	1: 52,235,911 (GRCm39)	K401N	probably damaging	Het
Gpatch2l	A	G	12: 86,291,254 (GRCm39)	K146E	probably damaging	Het
Gpr3	A	G	4: 132,937,719 (GRCm39)	S318P	probably benign	Het
Kbtbd7	T	C	14: 79,666,205 (GRCm39)	V679A	possibly damaging	Het
Kcnu1	T	A	8: 26,409,678 (GRCm39)	L127H	probably damaging	Het
Lck	G	T	4: 129,450,103 (GRCm39)	H214Q	probably benign	Het
Lrch4	A	C	5: 137,636,188 (GRCm39)	S380R	possibly damaging	Het
Lrrk2	A	T	15: 91,586,425 (GRCm39)	K414*	probably null	Het
Maco1	A	T	4: 134,555,369 (GRCm39)	M368K	probably benign	Het
Med11	A	G	11: 70,344,058 (GRCm39)	E126G	probably damaging	Het
Mknk1	A	G	4: 115,712,203 (GRCm39)		probably null	Het
Mst1	T	C	9: 107,960,107 (GRCm39)	C355R	probably damaging	Het
Mtcl2	T	A	2: 156,872,841 (GRCm39)	E890V	probably damaging	Het
Myl10	T	C	5: 136,723,092 (GRCm39)	F14L	probably damaging	Het
Nfrkb	C	T	9: 31,325,932 (GRCm39)	T1125M	probably benign	Het
Nin	T	C	12: 70,089,543 (GRCm39)	T1291A	probably damaging	Het
Pcnt	T	C	10: 76,265,105 (GRCm39)	Q335R	probably damaging	Het
Phc2	A	G	4: 128,638,888 (GRCm39)	T83A	probably damaging	Het
Rdh19	T	A	10: 127,692,756 (GRCm39)	M141K	probably benign	Het
Rnf17	G	A	14: 56,708,856 (GRCm39)	V759I	probably benign	Het
Sirt7	A	T	11: 120,511,677 (GRCm39)	Y18*	probably null	Het
Slc27a5	T	C	7: 12,732,010 (GRCm39)		probably benign	Het
Synpo2	T	A	3: 122,914,859 (GRCm39)	I56F	probably damaging	Het
Tdrd6	C	A	17: 43,937,299 (GRCm39)	G1250C	probably damaging	Het
Tmem190	G	A	7: 4,787,288 (GRCm39)	G164D	probably damaging	Het
Tmigd1	T	C	11: 76,797,858 (GRCm39)	Y67H	probably damaging	Het
Trim3	T	A	7: 105,268,743 (GRCm39)	E70D	probably damaging	Het
Uap1	A	G	1: 169,994,414 (GRCm39)	F21L	possibly damaging	Het
Vmn1r176	A	T	7: 23,534,925 (GRCm39)	V76D	probably benign	Het
Vps13d	A	C	4: 144,813,743 (GRCm39)	S3245A	probably benign	Het
Wnt7a	T	C	6: 91,343,186 (GRCm39)	Y232C	probably damaging	Het
Zan	A	G	5: 137,398,360 (GRCm39)	V4224A	unknown	Het

Other mutations in Epx

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00543:Epx	APN	11	87,760,751 (GRCm39)	missense	probably damaging	1.00
IGL01723:Epx	APN	11	87,760,228 (GRCm39)	missense	probably damaging	1.00
IGL02096:Epx	APN	11	87,760,294 (GRCm39)	missense	probably damaging	1.00
IGL02423:Epx	APN	11	87,762,144 (GRCm39)	missense	possibly damaging	0.85
K7371:Epx	UTSW	11	87,755,710 (GRCm39)	missense	probably damaging	1.00
R1018:Epx	UTSW	11	87,760,129 (GRCm39)	missense	probably benign	0.05
R1607:Epx	UTSW	11	87,759,538 (GRCm39)	missense	probably damaging	1.00
R2017:Epx	UTSW	11	87,765,163 (GRCm39)	missense	probably damaging	1.00
R2030:Epx	UTSW	11	87,755,650 (GRCm39)	missense	probably damaging	1.00
R3838:Epx	UTSW	11	87,765,656 (GRCm39)	missense	probably damaging	1.00
R4417:Epx	UTSW	11	87,760,256 (GRCm39)	nonsense	probably null
R5083:Epx	UTSW	11	87,763,506 (GRCm39)	missense	probably damaging	0.99
R5935:Epx	UTSW	11	87,756,318 (GRCm39)	missense	probably damaging	1.00
R6830:Epx	UTSW	11	87,759,452 (GRCm39)	missense	probably damaging	1.00
R6857:Epx	UTSW	11	87,760,781 (GRCm39)	nonsense	probably null
R6984:Epx	UTSW	11	87,759,424 (GRCm39)	missense	probably damaging	1.00
R7031:Epx	UTSW	11	87,766,349 (GRCm39)	start gained	probably benign
R7652:Epx	UTSW	11	87,766,160 (GRCm39)	critical splice donor site	probably null
R7667:Epx	UTSW	11	87,765,137 (GRCm39)	missense	probably damaging	0.98
R7969:Epx	UTSW	11	87,763,547 (GRCm39)	missense	probably benign	0.01
R8313:Epx	UTSW	11	87,763,557 (GRCm39)	missense	possibly damaging	0.71
R8559:Epx	UTSW	11	87,755,618 (GRCm39)	missense	probably damaging	0.99
R9030:Epx	UTSW	11	87,763,470 (GRCm39)	missense	probably benign
R9629:Epx	UTSW	11	87,755,651 (GRCm39)	missense	probably damaging	1.00
X0065:Epx	UTSW	11	87,756,301 (GRCm39)	missense	probably benign	0.03
Z1177:Epx	UTSW	11	87,763,593 (GRCm39)	missense	probably benign	0.00
Z1177:Epx	UTSW	11	87,760,720 (GRCm39)	missense	possibly damaging	0.56
Z1177:Epx	UTSW	11	87,760,087 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TACCTGGGCTGTTCAGTTCC -3'
(R):5'- ACCCCAAGAACTATGGGTCTCC -3'

Sequencing Primer
(F):5'- GGCTGTTCAGTTCCACCCC -3'
(R):5'- AAGAACTATGGGTCTCCCTGCTG -3'

Posted On

2017-01-03