Mutagenetix > Incidental Mutation

Incidental Mutation 'R5173:Epn3'

398921

Institutional Source

Beutler Lab

Gene Symbol

Epn3

Ensembl Gene

ENSMUSG00000010080

Gene Name

epsin 3

Synonyms

2310022G12Rik

MMRRC Submission

042753-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5173 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

94380425-94390800 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 94386923 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Arginine at position 149 (K149R)

Ref Sequence

ENSEMBL: ENSMUSP00000121390 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000127305]

AlphaFold

Q91W69

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000010224

Predicted Effect

probably damaging
Transcript: ENSMUST00000127305
AA Change: K149R

PolyPhen 2 Score 0.972 (Sensitivity: 0.77; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000121390
Gene: ENSMUSG00000010080
AA Change: K149R

Domain	Start	End	E-Value	Type
ENTH	18	144	1.3e-62	SMART
low complexity region	167	190	N/A	INTRINSIC
UIM	202	221	2.11e-2	SMART
UIM	229	248	5.27e-3	SMART
low complexity region	269	285	N/A	INTRINSIC
low complexity region	554	572	N/A	INTRINSIC
low complexity region	578	588	N/A	INTRINSIC
low complexity region	599	618	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000142992

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000150526

Meta Mutation Damage Score

0.1475

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.3%
20x: 95.5%

Validation Efficiency

100% (50/50)

MGI Phenotype

PHENOTYPE: Mice homozygous for a knock-out allele are phenotypically normal. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca13	AC	A	11: 9,632,032 (GRCm39)		probably null	Het
Abca6	A	T	11: 110,082,546 (GRCm39)	F1142L	probably benign	Het
Ap1g1	T	A	8: 110,577,764 (GRCm39)		probably null	Het
Apob	T	C	12: 8,058,238 (GRCm39)	V2207A	probably benign	Het
Cenpp	CAAACCTGAAAA	CAAA	13: 49,618,258 (GRCm39)		probably null	Het
Chd3	A	G	11: 69,260,069 (GRCm39)		probably benign	Het
Coch	C	A	12: 51,643,290 (GRCm39)	Y103*	probably null	Het
Cul3	A	T	1: 80,259,133 (GRCm39)	D382E	possibly damaging	Het
Cul5	T	C	9: 53,554,034 (GRCm39)	T291A	probably benign	Het
Dab1	T	C	4: 104,545,645 (GRCm39)		probably null	Het
Dmtf1	A	G	5: 9,190,356 (GRCm39)		probably benign	Het
Dpp4	T	C	2: 62,217,474 (GRCm39)	Y41C	probably damaging	Het
Eif2ak4	A	G	2: 118,238,841 (GRCm39)	I45M	probably damaging	Het
Flnc	A	G	6: 29,455,537 (GRCm39)	E2029G	probably damaging	Het
Gm5799	A	G	14: 43,782,116 (GRCm39)	N96S	probably damaging	Het
Gprc5c	G	T	11: 114,755,093 (GRCm39)	V257L	possibly damaging	Het
Grik5	T	C	7: 24,762,319 (GRCm39)	H224R	possibly damaging	Het
Lpar6	A	T	14: 73,476,537 (GRCm39)	E166V	probably benign	Het
Mical1	T	C	10: 41,360,985 (GRCm39)	L683P	probably damaging	Het
Mis18bp1	T	C	12: 65,196,149 (GRCm39)	I538M	possibly damaging	Het
Mobp	A	G	9: 119,997,311 (GRCm39)	R77G	possibly damaging	Het
Muc21	G	T	17: 35,931,633 (GRCm39)		probably benign	Het
Mylk	A	G	16: 34,797,383 (GRCm39)	H1614R	probably benign	Het
Or2y16	T	C	11: 49,334,713 (GRCm39)	F12L	probably benign	Het
Or4p18	G	A	2: 88,233,266 (GRCm39)	T4I	probably benign	Het
Or7c19	T	C	8: 85,957,205 (GRCm39)	L27P	probably damaging	Het
Osbpl1a	C	T	18: 12,895,697 (GRCm39)	V390I	probably benign	Het
Pcdha7	C	A	18: 37,107,705 (GRCm39)	D243E	probably benign	Het
Pi4ka	A	T	16: 17,168,770 (GRCm39)	N653K	possibly damaging	Het
Plin5	T	G	17: 56,422,548 (GRCm39)		probably null	Het
Plod1	A	G	4: 148,000,758 (GRCm39)		probably benign	Het
Psd3	T	C	8: 68,149,641 (GRCm39)	K372E	probably damaging	Het
Psmd11	C	T	11: 80,351,566 (GRCm39)	T263I	probably benign	Het
Ptprt	A	T	2: 161,769,676 (GRCm39)	N396K	probably benign	Het
Rab39	T	C	9: 53,597,800 (GRCm39)	E155G	probably damaging	Het
Rimbp2	T	C	5: 128,874,712 (GRCm39)	D293G	probably benign	Het
Rnf220	T	C	4: 117,146,471 (GRCm39)		probably benign	Het
Rnmt	C	T	18: 68,454,430 (GRCm39)		probably benign	Het
Slc10a1	T	A	12: 81,002,802 (GRCm39)	I279F	probably damaging	Het
Sp140l1	G	A	1: 85,078,288 (GRCm39)	R54*	probably null	Het
Taar6	A	G	10: 23,861,250 (GRCm39)	Y99H	probably damaging	Het
Tas2r144	T	A	6: 42,193,048 (GRCm39)	F263I	probably benign	Het
Tex15	T	A	8: 34,061,768 (GRCm39)	N399K	possibly damaging	Het
Tlr9	T	A	9: 106,103,151 (GRCm39)	V814D	possibly damaging	Het
Tmem53	T	A	4: 117,122,908 (GRCm39)		probably benign	Het
Ubap2l	T	C	3: 89,928,337 (GRCm39)	I511V	possibly damaging	Het
Vmn2r60	T	C	7: 41,844,935 (GRCm39)	M766T	probably damaging	Het
Zfp462	T	C	4: 55,011,115 (GRCm39)	V1027A	probably damaging	Het

Other mutations in Epn3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02017:Epn3	APN	11	94,385,852 (GRCm39)	missense	probably benign	0.04
IGL03172:Epn3	APN	11	94,382,456 (GRCm39)	missense	possibly damaging	0.92
PIT4362001:Epn3	UTSW	11	94,387,349 (GRCm39)	missense	probably damaging	1.00
PIT4418001:Epn3	UTSW	11	94,386,956 (GRCm39)	missense	probably damaging	1.00
R4893:Epn3	UTSW	11	94,382,822 (GRCm39)	missense	probably damaging	0.99
R6526:Epn3	UTSW	11	94,385,758 (GRCm39)	critical splice donor site	probably null
R6882:Epn3	UTSW	11	94,382,186 (GRCm39)	missense	probably benign	0.00
R7120:Epn3	UTSW	11	94,383,254 (GRCm39)	missense	probably benign	0.41
R7326:Epn3	UTSW	11	94,384,606 (GRCm39)	missense	probably benign	0.02
R7861:Epn3	UTSW	11	94,387,100 (GRCm39)	missense	probably damaging	1.00
R8373:Epn3	UTSW	11	94,383,762 (GRCm39)	missense	probably damaging	1.00
R8507:Epn3	UTSW	11	94,384,602 (GRCm39)	missense	probably damaging	0.99
R8742:Epn3	UTSW	11	94,386,921 (GRCm39)	missense	probably damaging	1.00
R8757:Epn3	UTSW	11	94,386,848 (GRCm39)	missense	possibly damaging	0.94
R8759:Epn3	UTSW	11	94,386,848 (GRCm39)	missense	possibly damaging	0.94
R8774:Epn3	UTSW	11	94,383,220 (GRCm39)	missense	possibly damaging	0.63
R8774-TAIL:Epn3	UTSW	11	94,383,220 (GRCm39)	missense	possibly damaging	0.63
R8983:Epn3	UTSW	11	94,386,914 (GRCm39)	missense	probably damaging	1.00
R9040:Epn3	UTSW	11	94,382,749 (GRCm39)	missense	possibly damaging	0.65
R9651:Epn3	UTSW	11	94,383,687 (GRCm39)	critical splice donor site	probably null
T0975:Epn3	UTSW	11	94,382,733 (GRCm39)	critical splice donor site	probably null

Predicted Primers

PCR Primer
(F):5'- GAGAGCTATGACTGTGGCTG -3'
(R):5'- ACGTATACAAGGCTCTGACAC -3'

Sequencing Primer
(F):5'- CTATGACTGTGGCTGGCCTAAC -3'
(R):5'- TATTGGACTACCTGCTCAAGACGG -3'

Posted On

2016-07-06