Mutagenetix > Incidental Mutation

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

Essential gene?

Probably non essential (E-score: 0.068) question?

Stock #

R3838 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

87754826-87766362 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 87765656 bp (GRCm39)

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]

AlphaFold

P49290

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
4930486L24Rik	A	G	13: 60,993,041 (GRCm39)	Y213H	probably damaging	Het
Alg8	C	T	7: 97,037,752 (GRCm39)	H379Y	probably damaging	Het
Arhgef25	T	C	10: 127,025,605 (GRCm39)	T12A	probably benign	Het
Arid4a	A	G	12: 71,122,559 (GRCm39)	E980G	possibly damaging	Het
Aspm	C	T	1: 139,405,792 (GRCm39)	H1560Y	probably benign	Het
Atg10	A	T	13: 91,085,499 (GRCm39)	I150K	probably damaging	Het
Bud13	A	C	9: 46,201,490 (GRCm39)	Q387P	possibly damaging	Het
Champ1	A	G	8: 13,929,939 (GRCm39)	Y699C	probably damaging	Het
Clstn1	A	G	4: 149,722,790 (GRCm39)	E476G	probably damaging	Het
Col2a1	T	C	15: 97,886,857 (GRCm39)	D345G	unknown	Het
Col2a1	A	T	15: 97,898,462 (GRCm39)		probably benign	Het
Col9a2	C	G	4: 120,911,455 (GRCm39)	R599G	probably damaging	Het
Dnajb2	G	A	1: 75,218,124 (GRCm39)		probably null	Het
Dock4	G	T	12: 40,844,623 (GRCm39)		probably null	Het
F13a1	A	T	13: 37,231,398 (GRCm39)	N21K	probably damaging	Het
Fam13c	C	T	10: 70,378,478 (GRCm39)	S336L	probably damaging	Het
Foxj3	T	A	4: 119,473,821 (GRCm39)	H215Q	possibly damaging	Het
Gcnt4	A	T	13: 97,083,522 (GRCm39)	R273*	probably null	Het
Gpam	T	C	19: 55,068,890 (GRCm39)	N450S	probably benign	Het
Hivep2	C	A	10: 14,004,713 (GRCm39)	T437K	probably benign	Het
Hmcn2	T	C	2: 31,303,419 (GRCm39)	L3020P	probably damaging	Het
Hmgcr	A	G	13: 96,795,597 (GRCm39)	I324T	probably benign	Het
Ighmbp2	T	C	19: 3,321,658 (GRCm39)	Y367C	probably benign	Het
Lrrc14b	A	G	13: 74,511,664 (GRCm39)	C139R	possibly damaging	Het
Lsamp	A	T	16: 41,954,675 (GRCm39)	E174V	possibly damaging	Het
Mid1ip1	T	C	X: 10,584,620 (GRCm39)	V51A	possibly damaging	Het
Mrc2	G	A	11: 105,239,257 (GRCm39)		probably null	Het
Msn	C	A	X: 95,203,805 (GRCm39)	Q303K	probably damaging	Het
Myh7b	A	G	2: 155,474,909 (GRCm39)	K1816E	probably damaging	Het
Nap1l1	T	A	10: 111,331,183 (GRCm39)		probably null	Het
Nme2	T	A	11: 93,840,803 (GRCm39)	E252D	probably benign	Het
Ntpcr	G	A	8: 126,464,111 (GRCm39)	V79M	probably damaging	Het
Ogdh	C	T	11: 6,288,627 (GRCm39)	R235*	probably null	Het
Or10d1	A	G	9: 39,484,267 (GRCm39)	V96A	probably benign	Het
Or10w1	A	G	19: 13,632,321 (GRCm39)	D176G	probably benign	Het
Or9k2	C	A	10: 129,998,275 (GRCm39)	E307*	probably null	Het
P3r3urf	A	G	4: 116,030,718 (GRCm39)	T41A	probably benign	Het
Pcdh20	T	C	14: 88,705,899 (GRCm39)	N467S	probably benign	Het
Pkhd1	G	A	1: 20,604,853 (GRCm39)	T1154I	possibly damaging	Het
Polq	G	T	16: 36,898,711 (GRCm39)	R2157I	probably damaging	Het
Reep6	C	A	10: 80,171,723 (GRCm39)	A533E	probably damaging	Het
Senp2	T	C	16: 21,828,485 (GRCm39)	S32P	probably damaging	Het
Septin11	T	A	5: 93,296,258 (GRCm39)	I52N	probably damaging	Het
Shld2	T	C	14: 33,967,325 (GRCm39)	D77G	probably benign	Het
Slc17a4	C	T	13: 24,085,752 (GRCm39)	R387H	probably benign	Het
Spdye4b	C	T	5: 143,178,084 (GRCm39)	T11I	probably benign	Het
Srrt	C	T	5: 137,300,387 (GRCm39)		probably null	Het
Sspo	T	A	6: 48,457,754 (GRCm39)	C3085S	probably damaging	Het
Stim1	C	T	7: 102,060,503 (GRCm39)	T182I	possibly damaging	Het
Thbs2	C	A	17: 14,908,113 (GRCm39)	V217L	probably benign	Het
Thpo	G	A	16: 20,547,498 (GRCm39)	R38C	probably damaging	Het
Tmem210	A	G	2: 25,178,444 (GRCm39)	E35G	possibly damaging	Het
Trim12c	T	A	7: 103,990,075 (GRCm39)		probably benign	Het
Tvp23b	A	G	11: 62,774,455 (GRCm39)	H33R	possibly damaging	Het
Usp14	A	G	18: 10,024,532 (GRCm39)		probably null	Het
Vmn2r73	A	G	7: 85,507,258 (GRCm39)	W685R	probably benign	Het
Zfp618	G	A	4: 63,051,801 (GRCm39)	A861T	probably benign	Het
Zfp715	A	G	7: 42,949,180 (GRCm39)	V260A	probably benign	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
R4417:Epx	UTSW	11	87,760,256 (GRCm39)	nonsense	probably null
R5083:Epx	UTSW	11	87,763,506 (GRCm39)	missense	probably damaging	0.99
R5712:Epx	UTSW	11	87,765,679 (GRCm39)	nonsense	probably null
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'- ATCTCTTACCTGGGCTGTTCAG -3'
(R):5'- AAGAACTATGGGTCTCCCTGC -3'

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

Posted On

2015-04-06