Mutagenetix > Incidental Mutation

Incidental Mutation 'R1018:Epx'

96635

Institutional Source

Beutler Lab

Gene Symbol

Epx

Ensembl Gene

ENSMUSG00000052234

Gene Name

eosinophil peroxidase

Synonyms

EPO

MMRRC Submission

039122-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.078) question?

Stock #

R1018 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

87864000-87875536 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 87869303 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 495 (N495S)

Ref Sequence

ENSEMBL: ENSMUSP00000050497 (fasta)

Gene Model

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

AlphaFold

P49290

Predicted Effect

probably benign
Transcript: ENSMUST00000049768
AA Change: N495S

PolyPhen 2 Score 0.048 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000050497
Gene: ENSMUSG00000052234
AA Change: N495S

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

Meta Mutation Damage Score

0.1868

Coding Region Coverage

1x: 99.1%
3x: 98.2%
10x: 95.9%
20x: 91.7%

Validation Efficiency

100% (50/50)

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: 47 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca7	G	T	10: 80,001,491	C403F	probably damaging	Het
Adam20	C	T	8: 40,796,109	Q419*	probably null	Het
Ankrd36	C	T	11: 5,646,876		probably benign	Het
Arl8b	T	A	6: 108,818,611	I170K	probably damaging	Het
Atp5f1	A	T	3: 105,954,172	V78E	possibly damaging	Het
Car9	G	T	4: 43,512,439		probably null	Het
Cgnl1	A	G	9: 71,726,058	Y4H	probably damaging	Het
Cnn2	T	C	10: 79,993,563	C176R	probably damaging	Het
Dst	A	G	1: 34,194,093	D3392G	probably damaging	Het
Eed	T	C	7: 89,967,811		probably benign	Het
Efl1	T	A	7: 82,763,013	V870E	possibly damaging	Het
Fbxw20	T	A	9: 109,221,336	Y407F	probably benign	Het
Gbp9	T	A	5: 105,080,260	Q552L	probably benign	Het
Hspa13	C	A	16: 75,761,276	V134L	possibly damaging	Het
Il16	T	C	7: 83,674,538	N268S	probably damaging	Het
Kif14	G	A	1: 136,495,841		probably benign	Het
Lrig1	G	A	6: 94,622,602		probably benign	Het
Myo7a	T	A	7: 98,107,005	D29V	probably damaging	Het
Nsd2	A	G	5: 33,843,241	K34R	probably damaging	Het
Olfr1234	C	A	2: 89,363,179	L83F	possibly damaging	Het
P3h1	C	A	4: 119,237,907	T287K	probably damaging	Het
Pkhd1	A	T	1: 20,201,259	H3023Q	possibly damaging	Het
Plxna1	A	G	6: 89,342,960	L535P	probably damaging	Het
Ppp1r32	A	T	19: 10,479,460		probably benign	Het
Prom1	A	T	5: 44,029,714	S400R	probably benign	Het
Psap	T	G	10: 60,300,811	L523R	probably damaging	Het
Psme4	C	T	11: 30,804,310	T189I	probably damaging	Het
Ptpn12	A	T	5: 21,029,869	S39T	possibly damaging	Het
Qtrt2	T	A	16: 43,878,000	H98L	possibly damaging	Het
Rad54l2	C	A	9: 106,712,390	C601F	probably benign	Het
Sfswap	A	G	5: 129,554,576	K756R	possibly damaging	Het
Slc24a5	T	C	2: 125,068,907	V86A	probably damaging	Het
Srrm2	T	C	17: 23,822,540	S2575P	probably damaging	Het
Stam	T	C	2: 14,117,374		probably benign	Het
Tbx6	T	A	7: 126,783,192		probably benign	Het
Tmem131	A	C	1: 36,794,819	F1727V	probably damaging	Het
Tpr	T	A	1: 150,442,183	H2147Q	possibly damaging	Het
Trio	T	A	15: 27,871,171	H620L	probably damaging	Het
Uba5	T	C	9: 104,049,903	T292A	probably benign	Het
Unc5a	T	A	13: 54,990,952	V48E	possibly damaging	Het
Upf1	G	T	8: 70,338,906	H514Q	possibly damaging	Het
Usp9y	A	G	Y: 1,341,414		probably benign	Het
Vmn2r6	T	A	3: 64,556,840	D191V	probably benign	Het
Wapl	T	C	14: 34,691,906	Y242H	possibly damaging	Het
Zfp341	A	T	2: 154,646,052	N812Y	probably damaging	Het
Zfp358	C	A	8: 3,496,843	S475*	probably null	Het
Zfp957	C	A	14: 79,212,742	C539F	probably damaging	Het

Other mutations in Epx

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00543:Epx	APN	11	87,869,925 (GRCm38)	missense	probably damaging	1.00
IGL01723:Epx	APN	11	87,869,402 (GRCm38)	missense	probably damaging	1.00
IGL02096:Epx	APN	11	87,869,468 (GRCm38)	missense	probably damaging	1.00
IGL02423:Epx	APN	11	87,871,318 (GRCm38)	missense	possibly damaging	0.85
K7371:Epx	UTSW	11	87,864,884 (GRCm38)	missense	probably damaging	1.00
R1607:Epx	UTSW	11	87,868,712 (GRCm38)	missense	probably damaging	1.00
R2017:Epx	UTSW	11	87,874,337 (GRCm38)	missense	probably damaging	1.00
R2030:Epx	UTSW	11	87,864,824 (GRCm38)	missense	probably damaging	1.00
R3838:Epx	UTSW	11	87,874,830 (GRCm38)	missense	probably damaging	1.00
R4417:Epx	UTSW	11	87,869,430 (GRCm38)	nonsense	probably null
R5083:Epx	UTSW	11	87,872,680 (GRCm38)	missense	probably damaging	0.99
R5712:Epx	UTSW	11	87,874,853 (GRCm38)	nonsense	probably null
R5935:Epx	UTSW	11	87,865,492 (GRCm38)	missense	probably damaging	1.00
R6830:Epx	UTSW	11	87,868,626 (GRCm38)	missense	probably damaging	1.00
R6857:Epx	UTSW	11	87,869,955 (GRCm38)	nonsense	probably null
R6984:Epx	UTSW	11	87,868,598 (GRCm38)	missense	probably damaging	1.00
R7031:Epx	UTSW	11	87,875,523 (GRCm38)	start gained	probably benign
R7652:Epx	UTSW	11	87,875,334 (GRCm38)	critical splice donor site	probably null
R7667:Epx	UTSW	11	87,874,311 (GRCm38)	missense	probably damaging	0.98
R7969:Epx	UTSW	11	87,872,721 (GRCm38)	missense	probably benign	0.01
R8313:Epx	UTSW	11	87,872,731 (GRCm38)	missense	possibly damaging	0.71
R8559:Epx	UTSW	11	87,864,792 (GRCm38)	missense	probably damaging	0.99
R9030:Epx	UTSW	11	87,872,644 (GRCm38)	missense	probably benign
R9629:Epx	UTSW	11	87,864,825 (GRCm38)	missense	probably damaging	1.00
X0065:Epx	UTSW	11	87,865,475 (GRCm38)	missense	probably benign	0.03
Z1177:Epx	UTSW	11	87,872,767 (GRCm38)	missense	probably benign	0.00
Z1177:Epx	UTSW	11	87,869,894 (GRCm38)	missense	possibly damaging	0.56
Z1177:Epx	UTSW	11	87,869,261 (GRCm38)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CATGAGAGACTCACTGATGGCTGC -3'
(R):5'- TCCAATGGGAGATTAATGCTGCCAC -3'

Sequencing Primer
(F):5'- CCATCTTTCCACTATCCTGAGAAG -3'
(R):5'- GGAGATTAATGCTGCCACACTTG -3'

Posted On

2014-01-05