Mutagenetix > Incidental Mutation

Incidental Mutation 'R5935:Epx'

462203

Institutional Source

Beutler Lab

Gene Symbol

Epx

Ensembl Gene

ENSMUSG00000052234

Gene Name

eosinophil peroxidase

Synonyms

EPO

MMRRC Submission

044129-MU

Accession Numbers

Essential gene?

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

Stock #

R5935 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

87754826-87766362 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 87756318 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Glutamic Acid at position 621 (A621E)

Ref Sequence

ENSEMBL: ENSMUSP00000050497 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000038196] [ENSMUST00000049768]

AlphaFold

P49290

Predicted Effect

probably benign
Transcript: ENSMUST00000038196

SMART Domains

Protein: ENSMUSP00000043790
Gene: ENSMUSG00000034121

Domain	Start	End	E-Value	Type
low complexity region	163	170	N/A	INTRINSIC
Pfam:B9-C2	316	496	1.8e-45	PFAM
low complexity region	533	547	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000049768
AA Change: A621E

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000050497
Gene: ENSMUSG00000052234
AA Change: A621E

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000135369

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.2%
20x: 94.8%

Validation Efficiency

96% (92/96)

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: 87 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam26b	C	G	8: 43,974,335 (GRCm39)	M222I	probably benign	Het
Ahnak	T	C	19: 8,992,546 (GRCm39)	V4610A	possibly damaging	Het
Ankrd13c	C	T	3: 157,653,220 (GRCm39)		silent	Het
Cables2	A	G	2: 179,903,841 (GRCm39)		probably benign	Het
Cabp2	C	A	19: 4,136,497 (GRCm39)	A181D	probably damaging	Het
Camsap3	A	G	8: 3,651,999 (GRCm39)	D265G	probably damaging	Het
Cbs	G	T	17: 31,851,853 (GRCm39)	T50N	probably damaging	Het
Cenpa	A	T	5: 30,830,381 (GRCm39)	Q83L	possibly damaging	Het
Cit	A	T	5: 116,063,598 (GRCm39)		probably benign	Het
Ckap5	A	G	2: 91,445,445 (GRCm39)	E1694G	possibly damaging	Het
Copz1	A	T	15: 103,203,197 (GRCm39)	M104L	probably benign	Het
Crot	T	A	5: 9,024,192 (GRCm39)	M335L	probably benign	Het
Ctnna2	T	C	6: 77,120,904 (GRCm39)	D373G	probably benign	Het
Ctu2	G	A	8: 123,203,693 (GRCm39)		probably benign	Het
Cyp3a59	T	A	5: 146,027,455 (GRCm39)	Y75*	probably null	Het
Dbi	A	G	1: 120,048,583 (GRCm39)	I21T	probably benign	Het
Dcun1d3	A	G	7: 119,458,799 (GRCm39)	S79P	probably benign	Het
Dock10	T	A	1: 80,483,304 (GRCm39)		probably benign	Het
Dstyk	T	A	1: 132,381,875 (GRCm39)	I543N	probably damaging	Het
Farp2	G	A	1: 93,548,367 (GRCm39)		probably null	Het
Gm11992	C	T	11: 9,002,711 (GRCm39)	P25S	probably damaging	Het
Grik5	A	T	7: 24,758,502 (GRCm39)	M307K	possibly damaging	Het
Hnf1b	A	T	11: 83,773,503 (GRCm39)	N234I	probably damaging	Het
Htr2a	A	G	14: 74,882,530 (GRCm39)	D172G	probably damaging	Het
Ifit1bl2	T	C	19: 34,597,128 (GRCm39)	T163A	probably benign	Het
Igsf10	A	T	3: 59,235,578 (GRCm39)	D1534E	probably benign	Het
Il3ra	T	G	14: 14,350,799 (GRCm38)	V178G	probably damaging	Het
Itgb1	A	T	8: 129,439,718 (GRCm39)	K136*	probably null	Het
Itprid1	A	T	6: 55,874,754 (GRCm39)	R235*	probably null	Het
Lama2	T	A	10: 26,891,494 (GRCm39)	I2540F	probably benign	Het
Lrp8	C	A	4: 107,714,493 (GRCm39)	H622Q	probably damaging	Het
Lrrc2	T	A	9: 110,795,629 (GRCm39)	M138K	probably benign	Het
Lrrk2	C	A	15: 91,630,034 (GRCm39)	H1242N	probably benign	Het
Lsm11	G	C	11: 45,835,445 (GRCm39)	R99G	probably benign	Het
Mif4gd	C	T	11: 115,500,439 (GRCm39)	V40M	probably benign	Het
Mpp3	A	T	11: 101,916,241 (GRCm39)	V37D	probably damaging	Het
Mre11a	T	A	9: 14,698,258 (GRCm39)	D35E	probably damaging	Het
Mroh4	C	A	15: 74,493,003 (GRCm39)	V233F	probably damaging	Het
Npy2r	A	T	3: 82,448,068 (GRCm39)	S123T	possibly damaging	Het
Nrip2	A	G	6: 128,385,361 (GRCm39)	Y264C	possibly damaging	Het
Obscn	A	G	11: 58,897,639 (GRCm39)	S6639P	unknown	Het
Or10d4	C	T	9: 39,580,386 (GRCm39)	T11I	probably benign	Het
Or51t4	T	A	7: 102,598,017 (GRCm39)	F105Y	probably benign	Het
Osbpl5	C	T	7: 143,310,695 (GRCm39)		probably benign	Het
Panx1	A	T	9: 14,921,513 (GRCm39)	Y121N	probably damaging	Het
Pcdhb8	A	G	18: 37,489,243 (GRCm39)	D307G	probably damaging	Het
Pde1b	A	G	15: 103,429,866 (GRCm39)	K120E	possibly damaging	Het
Pdzrn4	T	C	15: 92,295,255 (GRCm39)	S154P	probably benign	Het
Ppp1r13b	T	C	12: 111,796,876 (GRCm39)	K889R	probably benign	Het
Ppp4r3a	T	A	12: 101,017,872 (GRCm39)	D439V	probably damaging	Het
Ptk2b	A	G	14: 66,411,328 (GRCm39)	I401T	probably damaging	Het
Rab24	T	C	13: 55,468,343 (GRCm39)	T153A	probably damaging	Het
Rarb	C	A	14: 16,434,264 (GRCm38)	A305S	probably damaging	Het
Rc3h2	GCC	GCCC	2: 37,304,745 (GRCm39)		probably null	Het
Scn10a	G	A	9: 119,456,237 (GRCm39)	T1194I	probably damaging	Het
Scn3a	G	T	2: 65,295,180 (GRCm39)	N1514K	probably damaging	Het
Serpinb3d	T	C	1: 107,011,105 (GRCm39)	T36A	probably benign	Het
Shisa5	T	A	9: 108,885,751 (GRCm39)	M229K	possibly damaging	Het
Sik2	C	T	9: 50,828,431 (GRCm39)	G204R	probably damaging	Het
Sla	C	T	15: 66,665,554 (GRCm39)	G46E	probably damaging	Het
Slc35g3	A	T	11: 69,652,509 (GRCm39)	M1K	probably null	Het
Slc5a7	A	T	17: 54,583,972 (GRCm39)	Y439*	probably null	Het
Slc9a1	T	C	4: 133,147,176 (GRCm39)		probably benign	Het
Slitrk6	T	G	14: 110,987,305 (GRCm39)	T801P	probably benign	Het
Spata31d1c	T	C	13: 65,184,894 (GRCm39)	V812A	possibly damaging	Het
Spata31g1	T	C	4: 42,971,465 (GRCm39)	L230P	probably benign	Het
Spef1l	G	A	7: 139,556,526 (GRCm39)	H154Y	probably benign	Het
Sphkap	A	C	1: 83,317,320 (GRCm39)	L59R	probably damaging	Het
Spmip8	A	T	8: 96,046,620 (GRCm39)	T98S	possibly damaging	Het
Srsf10	C	A	4: 135,583,553 (GRCm39)	R6S	probably damaging	Het
Supt5	T	A	7: 28,028,900 (GRCm39)	R131S	probably benign	Het
Syne1	T	C	10: 5,310,706 (GRCm39)		probably null	Het
Tet2	T	A	3: 133,194,296 (GRCm39)	H46L	possibly damaging	Het
Tnfsf4	T	A	1: 161,244,819 (GRCm39)	N169K	probably damaging	Het
Tprg1	A	T	16: 25,136,011 (GRCm39)	M1L	possibly damaging	Het
Tsen2	A	G	6: 115,536,556 (GRCm39)	Y104C	probably damaging	Het
Ttc6	A	G	12: 57,720,590 (GRCm39)	Y952C	probably damaging	Het
Umod	A	T	7: 119,070,650 (GRCm39)	I414N	probably damaging	Het
Usp10	G	T	8: 120,673,828 (GRCm39)	V398L	possibly damaging	Het
Vmn2r23	A	T	6: 123,718,854 (GRCm39)	I736F	possibly damaging	Het
Vmn2r65	C	A	7: 84,592,869 (GRCm39)	G446V	probably benign	Het
Wbp1l	C	T	19: 46,642,619 (GRCm39)	R191*	probably null	Het
Yars2	A	G	16: 16,127,335 (GRCm39)	I467V	probably benign	Het
Ykt6	A	G	11: 5,909,338 (GRCm39)	E49G	possibly damaging	Het
Zan	T	A	5: 137,442,192 (GRCm39)	M1907L	unknown	Het
Zdhhc2	T	C	8: 40,917,277 (GRCm39)	S225P	probably damaging	Het
Zfc3h1	A	T	10: 115,267,262 (GRCm39)		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
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
R5712:Epx	UTSW	11	87,765,679 (GRCm39)	nonsense	probably null
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'- ACTTTGCATGGGGAAGCCTC -3'
(R):5'- ACTGACAGCATGGCTCTGAC -3'

Sequencing Primer
(F):5'- GTCCCCTTAGCTCAGGAGAAAAG -3'
(R):5'- CATGGCTCTGACTGGGCTTC -3'

Posted On

2017-02-28