Mutagenetix > Incidental Mutation

Incidental Mutation 'R6830:Epx'

534357

Institutional Source

Beutler Lab

Gene Symbol

Epx

Ensembl Gene

ENSMUSG00000052234

Gene Name

eosinophil peroxidase

Synonyms

EPO

MMRRC Submission

044940-MU

Accession Numbers

Essential gene?

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

Stock #

R6830 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

87754826-87766362 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 87759452 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Leucine at position 546 (F546L)

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: F546L

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

SMART Domains

Protein: ENSMUSP00000050497
Gene: ENSMUSG00000052234
AA Change: F546L

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.4%
20x: 98.1%

Validation Efficiency

98% (53/54)

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: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930503B20Rik	T	C	3: 146,356,716 (GRCm39)	D64G	possibly damaging	Het
Amtn	T	C	5: 88,525,956 (GRCm39)	L40P	probably damaging	Het
Ano6	A	G	15: 95,792,342 (GRCm39)	R90G	probably damaging	Het
Arfgef3	A	C	10: 18,540,637 (GRCm39)		probably null	Het
Asxl3	C	T	18: 22,658,445 (GRCm39)	P2152S	probably benign	Het
Atp7b	A	T	8: 22,512,381 (GRCm39)	V494E	probably damaging	Het
Bik	T	A	15: 83,428,409 (GRCm39)	Y146N	probably benign	Het
C1qtnf7	A	T	5: 43,766,436 (GRCm39)	I12F	possibly damaging	Het
Cacna1e	A	G	1: 154,289,720 (GRCm39)		probably null	Het
Ccdc168	A	G	1: 44,095,890 (GRCm39)	V1736A	probably benign	Het
Ccnj	A	G	19: 40,833,636 (GRCm39)	E231G	probably damaging	Het
Cd101	T	C	3: 100,901,012 (GRCm39)	K1020R	probably benign	Het
Cdh6	C	A	15: 13,044,860 (GRCm39)	V421L	probably benign	Het
Cplane1	T	C	15: 8,205,668 (GRCm39)	S135P	probably benign	Het
Decr1	T	C	4: 15,924,355 (GRCm39)		probably null	Het
Dmxl1	C	T	18: 50,054,091 (GRCm39)	P2566S	probably damaging	Het
Dock9	G	A	14: 121,860,330 (GRCm39)	P866L	probably damaging	Het
Fat4	T	A	3: 39,035,966 (GRCm39)	M3206K	probably benign	Het
Fgb	T	C	3: 82,952,332 (GRCm39)	D179G	probably benign	Het
Gbgt1	A	G	2: 28,395,220 (GRCm39)	D286G	probably damaging	Het
Gpn1	T	A	5: 31,664,832 (GRCm39)	S285R	probably benign	Het
Htt	T	A	5: 34,991,670 (GRCm39)	Y1212N	possibly damaging	Het
Kcnj13	T	C	1: 87,314,745 (GRCm39)	K159R	probably damaging	Het
Ldb2	T	A	5: 44,699,199 (GRCm39)	I80F	probably damaging	Het
Macrod2	T	A	2: 140,294,602 (GRCm39)	N89K	probably damaging	Het
Mdga2	G	A	12: 66,769,775 (GRCm39)	R173C	probably damaging	Het
Mroh9	A	G	1: 162,903,935 (GRCm39)	F26L	probably benign	Het
Neil3	G	T	8: 54,052,514 (GRCm39)	N361K	probably benign	Het
Nepro	A	G	16: 44,551,720 (GRCm39)	R193G	probably damaging	Het
Or52d3	T	A	7: 104,229,447 (GRCm39)	I198N	probably damaging	Het
Pclo	A	T	5: 14,731,113 (GRCm39)	Q3205L	unknown	Het
Plekhm1	A	T	11: 103,267,715 (GRCm39)	I752N	probably damaging	Het
Podn	T	C	4: 107,878,614 (GRCm39)	T273A	possibly damaging	Het
Prep	T	A	10: 44,973,597 (GRCm39)	M235K	probably benign	Het
Ptprc	A	T	1: 137,999,993 (GRCm39)		probably null	Het
Reg2	A	G	6: 78,384,625 (GRCm39)	H119R	possibly damaging	Het
Rpe65	T	C	3: 159,319,805 (GRCm39)	V225A	probably benign	Het
Scn9a	T	C	2: 66,398,373 (GRCm39)	D79G	probably damaging	Het
Slc25a23	G	A	17: 57,360,804 (GRCm39)	R9*	probably null	Het
Snai3	A	G	8: 123,183,212 (GRCm39)	L111P	probably damaging	Het
Stk38	A	G	17: 29,218,981 (GRCm39)		probably null	Het
Stk38l	A	T	6: 146,668,269 (GRCm39)	I115F	possibly damaging	Het
Tmco6	T	A	18: 36,871,406 (GRCm39)		probably null	Het
Tollip	A	T	7: 141,452,451 (GRCm39)	M1K	probably null	Het
Trim40	T	C	17: 37,199,742 (GRCm39)	Y112C	possibly damaging	Het
Ttc27	T	A	17: 75,163,550 (GRCm39)	Y719*	probably null	Het
Ubald1	T	C	16: 4,697,584 (GRCm39)	D6G	probably damaging	Het
Vmn2r59	A	T	7: 41,693,171 (GRCm39)	S476R	probably benign	Het
Wfdc3	C	T	2: 164,576,178 (GRCm39)	G38R	possibly damaging	Het
Zbtb21	C	T	16: 97,753,161 (GRCm39)	G402D	probably damaging	Het
Zfp84	A	G	7: 29,475,911 (GRCm39)	Y201C	probably benign	Het
Zswim2	T	A	2: 83,770,028 (GRCm39)	H62L	probably damaging	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
R5935:Epx	UTSW	11	87,756,318 (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'- TGCATCCGCATAGGTCTTG -3'
(R):5'- GTCAGAGCGGTAAGTCATGG -3'

Sequencing Primer
(F):5'- GGTCTTGCCTGCTCTGCAC -3'
(R):5'- AGCGGTAAGTCATGGACCTGC -3'

Posted On

2018-09-12