Mutagenetix > Incidental Mutations

Incidental Mutation 'R3838:Epx'

277008

Institutional Source

Beutler Lab

Gene Symbol

Epx

Ensembl Gene

ENSMUSG00000052234

Gene Name

eosinophil peroxidase

Synonyms

EPO

MMRRC Submission

040779-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.065) question?

Stock #

R3838 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

87864000-87875536 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 87874830 bp

Zygosity

Heterozygous

Amino Acid Change

Leucine to Glutamine at position 101 (L101Q)

Ref Sequence

ENSEMBL: ENSMUSP00000050497 (fasta)

Gene Model

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000049768
AA Change: L101Q

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

SMART Domains

Protein: ENSMUSP00000050497
Gene: ENSMUSG00000052234
AA Change: L101Q

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: 99.3%
3x: 98.8%
10x: 97.8%
20x: 96.4%

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: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700042G07Rik	A	G	4: 116,173,521	T41A	probably benign	Het
4930486L24Rik	A	G	13: 60,845,227	Y213H	probably damaging	Het
Alg8	C	T	7: 97,388,545	H379Y	probably damaging	Het
Arhgef25	T	C	10: 127,189,736	T12A	probably benign	Het
Arid4a	A	G	12: 71,075,785	E980G	possibly damaging	Het
Aspm	C	T	1: 139,478,054	H1560Y	probably benign	Het
Atg10	A	T	13: 90,937,380	I150K	probably damaging	Het
Bud13	A	C	9: 46,290,192	Q387P	possibly damaging	Het
Champ1	A	G	8: 13,879,939	Y699C	probably damaging	Het
Clstn1	A	G	4: 149,638,333	E476G	probably damaging	Het
Col2a1	T	C	15: 97,988,976	D345G	unknown	Het
Col2a1	A	T	15: 98,000,581		probably benign	Het
Col9a2	C	G	4: 121,054,258	R599G	probably damaging	Het
Dnajb2	G	A	1: 75,241,480		probably null	Het
Dock4	G	T	12: 40,794,624		probably null	Het
F13a1	A	T	13: 37,047,424	N21K	probably damaging	Het
Fam13c	C	T	10: 70,542,648	S336L	probably damaging	Het
Fam35a	T	C	14: 34,245,368	D77G	probably benign	Het
Foxj3	T	A	4: 119,616,624	H215Q	possibly damaging	Het
Gcnt4	A	T	13: 96,947,014	R273*	probably null	Het
Gpam	T	C	19: 55,080,458	N450S	probably benign	Het
Hivep2	C	A	10: 14,128,969	T437K	probably benign	Het
Hmcn2	T	C	2: 31,413,407	L3020P	probably damaging	Het
Hmgcr	A	G	13: 96,659,089	I324T	probably benign	Het
Ighmbp2	T	C	19: 3,271,658	Y367C	probably benign	Het
Lrrc14b	A	G	13: 74,363,545	C139R	possibly damaging	Het
Lsamp	A	T	16: 42,134,312	E174V	possibly damaging	Het
Mid1ip1	T	C	X: 10,718,381	V51A	possibly damaging	Het
Mrc2	G	A	11: 105,348,431		probably null	Het
Msn	C	A	X: 96,160,199	Q303K	probably damaging	Het
Myh7b	A	G	2: 155,632,989	K1816E	probably damaging	Het
Nap1l1	T	A	10: 111,495,322		probably null	Het
Nme2	T	A	11: 93,949,977	E252D	probably benign	Het
Ntpcr	G	A	8: 125,737,372	V79M	probably damaging	Het
Ogdh	C	T	11: 6,338,627	R235*	probably null	Het
Olfr1490	A	G	19: 13,654,957	D176G	probably benign	Het
Olfr825	C	A	10: 130,162,406	E307*	probably null	Het
Olfr959	A	G	9: 39,572,971	V96A	probably benign	Het
Pcdh20	T	C	14: 88,468,463	N467S	probably benign	Het
Pkhd1	G	A	1: 20,534,629	T1154I	possibly damaging	Het
Polq	G	T	16: 37,078,349	R2157I	probably damaging	Het
Reep6	C	A	10: 80,335,889	A533E	probably damaging	Het
Senp2	T	C	16: 22,009,735	S32P	probably damaging	Het
Sept11	T	A	5: 93,148,399	I52N	probably damaging	Het
Slc17a4	C	T	13: 23,901,769	R387H	probably benign	Het
Spdye4b	C	T	5: 143,192,329	T11I	probably benign	Het
Srrt	C	T	5: 137,302,125		probably null	Het
Sspo	T	A	6: 48,480,820	C3085S	probably damaging	Het
Stim1	C	T	7: 102,411,296	T182I	possibly damaging	Het
Thbs2	C	A	17: 14,687,851	V217L	probably benign	Het
Thpo	G	A	16: 20,728,748	R38C	probably damaging	Het
Tmem210	A	G	2: 25,288,432	E35G	possibly damaging	Het
Trim12c	T	A	7: 104,340,868		probably benign	Het
Tvp23b	A	G	11: 62,883,629	H33R	possibly damaging	Het
Usp14	A	G	18: 10,024,532		probably null	Het
Vmn2r73	A	G	7: 85,858,050	W685R	probably benign	Het
Zfp618	G	A	4: 63,133,564	A861T	probably benign	Het
Zfp715	A	G	7: 43,299,756	V260A	probably benign	Het

Other mutations in Epx

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00543:Epx	APN	11	87869925	missense	probably damaging	1.00
IGL01723:Epx	APN	11	87869402	missense	probably damaging	1.00
IGL02096:Epx	APN	11	87869468	missense	probably damaging	1.00
IGL02423:Epx	APN	11	87871318	missense	possibly damaging	0.85
K7371:Epx	UTSW	11	87864884	missense	probably damaging	1.00
R1018:Epx	UTSW	11	87869303	missense	probably benign	0.05
R1607:Epx	UTSW	11	87868712	missense	probably damaging	1.00
R2017:Epx	UTSW	11	87874337	missense	probably damaging	1.00
R2030:Epx	UTSW	11	87864824	missense	probably damaging	1.00
R4417:Epx	UTSW	11	87869430	nonsense	probably null
R5083:Epx	UTSW	11	87872680	missense	probably damaging	0.99
R5712:Epx	UTSW	11	87874853	nonsense	probably null
R5935:Epx	UTSW	11	87865492	missense	probably damaging	1.00
R6830:Epx	UTSW	11	87868626	missense	probably damaging	1.00
R6857:Epx	UTSW	11	87869955	nonsense	probably null
R6984:Epx	UTSW	11	87868598	missense	probably damaging	1.00
R7031:Epx	UTSW	11	87875523	start gained	probably benign
R7652:Epx	UTSW	11	87875334	critical splice donor site	probably null
R7667:Epx	UTSW	11	87874311	missense	probably damaging	0.98
R7969:Epx	UTSW	11	87872721	missense	probably benign	0.01
R8313:Epx	UTSW	11	87872731	missense	possibly damaging	0.71
X0065:Epx	UTSW	11	87865475	missense	probably benign	0.03
Z1177:Epx	UTSW	11	87869261	missense	probably damaging	1.00
Z1177:Epx	UTSW	11	87869894	missense	possibly damaging	0.56
Z1177:Epx	UTSW	11	87872767	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- ATCTCTTACCTGGGCTGTTCAG -3'
(R):5'- AAGAACTATGGGTCTCCCTGC -3'

Sequencing Primer
(F):5'- GGGCTGTTCAGTTCCACC -3'
(R):5'- GAGAATTTATGGTTAGCCTGCACCC -3'

Posted On

2015-04-06