Mutagenetix > Incidental Mutation

Incidental Mutation 'R6882:Epn3'

536739

Institutional Source

Beutler Lab

Gene Symbol

Epn3

Ensembl Gene

ENSMUSG00000010080

Gene Name

epsin 3

Synonyms

2310022G12Rik

MMRRC Submission

044977-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6882 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

94380425-94390800 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 94382186 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Threonine at position 568 (A568T)

Ref Sequence

ENSEMBL: ENSMUSP00000121390 (fasta)

Gene Model

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

AlphaFold

Q91W69

Predicted Effect

probably benign
Transcript: ENSMUST00000127305
AA Change: A568T

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000121390
Gene: ENSMUSG00000010080
AA Change: A568T

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

Meta Mutation Damage Score

0.0692

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.3%
20x: 97.9%

Validation Efficiency

100% (63/63)

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: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Actr10	A	G	12: 71,003,125 (GRCm39)	E238G	probably benign	Het
Adgrf5	T	A	17: 43,761,271 (GRCm39)	C989S	probably damaging	Het
Ank2	T	G	3: 126,739,406 (GRCm39)		probably benign	Het
C2cd6	T	C	1: 59,105,318 (GRCm39)	D320G	probably damaging	Het
Cacnb2	T	A	2: 14,829,110 (GRCm39)	I15N	probably benign	Het
Cage1	T	A	13: 38,206,534 (GRCm39)	Q437L	probably damaging	Het
Capn15	G	T	17: 26,179,153 (GRCm39)		probably null	Het
Cbll1	A	G	12: 31,537,484 (GRCm39)	Y424H	probably damaging	Het
Ccdc166	T	C	15: 75,853,466 (GRCm39)	H167R	possibly damaging	Het
Ccdc7a	T	C	8: 129,523,809 (GRCm39)		probably benign	Het
Cdkl4	T	A	17: 80,851,175 (GRCm39)	T176S	probably damaging	Het
Cnot1	T	C	8: 96,447,054 (GRCm39)	E2321G	possibly damaging	Het
Col6a5	G	A	9: 105,817,469 (GRCm39)	Q281*	probably null	Het
Csmd2	A	G	4: 128,343,062 (GRCm39)	T1485A	probably benign	Het
Dmxl1	A	G	18: 49,976,851 (GRCm39)		probably null	Het
Dnah3	A	G	7: 119,570,407 (GRCm39)	I2271T	possibly damaging	Het
Elavl2	A	G	4: 91,196,952 (GRCm39)	I42T	probably damaging	Het
Etv3	T	C	3: 87,436,577 (GRCm39)	F111L	probably damaging	Het
Fnip1	A	G	11: 54,400,724 (GRCm39)	E1041G	probably damaging	Het
Fosl2	T	C	5: 32,310,208 (GRCm39)	V219A	possibly damaging	Het
Foxj2	T	A	6: 122,805,464 (GRCm39)		probably null	Het
Gm8947	G	A	1: 151,068,880 (GRCm39)	A238T	possibly damaging	Het
Golgb1	C	A	16: 36,734,352 (GRCm39)	Q1200K	probably benign	Het
Igkv4-55	A	G	6: 69,584,289 (GRCm39)	Y108H	probably damaging	Het
Iglc1	G	A	16: 18,880,599 (GRCm39)		probably benign	Het
Ints13	G	T	6: 146,464,939 (GRCm39)	R221S	probably null	Het
Ipo11	T	C	13: 107,037,190 (GRCm39)		probably null	Het
Kcnn2	A	T	18: 45,692,505 (GRCm39)	H27L	possibly damaging	Het
Kcns3	C	T	12: 11,142,049 (GRCm39)	V217M	probably benign	Het
Klra9	A	T	6: 130,155,985 (GRCm39)	C257S	probably damaging	Het
Lama5	G	A	2: 179,833,455 (GRCm39)	P1519L	probably damaging	Het
Lmbr1l	A	G	15: 98,805,467 (GRCm39)	F345L	probably damaging	Het
Lrrc18	A	C	14: 32,730,646 (GRCm39)	I62L	probably benign	Het
Mr1	A	G	1: 155,008,199 (GRCm39)	W259R	possibly damaging	Het
Myo15a	G	A	11: 60,414,832 (GRCm39)	R3325H	probably damaging	Het
Nid2	A	G	14: 19,839,775 (GRCm39)	D788G	probably damaging	Het
Or2y1c	A	T	11: 49,361,290 (GRCm39)	Y104F	probably benign	Het
Or5an10	C	A	19: 12,275,934 (GRCm39)	Q187H	probably damaging	Het
Or5h24	A	T	16: 58,918,990 (GRCm39)	C122S	unknown	Het
Or6d12	T	C	6: 116,493,395 (GRCm39)	V219A	probably benign	Het
Pbld1	T	C	10: 62,897,241 (GRCm39)	L11P	probably benign	Het
Pcnt	T	C	10: 76,263,662 (GRCm39)	E434G	probably benign	Het
Prg4	G	A	1: 150,329,246 (GRCm39)	T174M	probably damaging	Het
Prkdc	G	A	16: 15,601,127 (GRCm39)		probably null	Het
Prkdc	T	A	16: 15,626,020 (GRCm39)	S3349T	probably benign	Het
Prpf38a	C	A	4: 108,427,365 (GRCm39)	E199D	probably benign	Het
Prrc2c	TTGCTGCTGCTGCTGCTGCTGCTGCTGC	TTGCTGCTGCTGCTGCTGCTGCTGC	1: 162,536,630 (GRCm39)		probably benign	Het
Rhbg	T	A	3: 88,152,527 (GRCm39)	H339L	probably damaging	Het
Rnf183	A	G	4: 62,346,261 (GRCm39)	I179T	probably benign	Het
Sh3bp5l	G	T	11: 58,222,525 (GRCm39)	A7S	probably benign	Het
Slc12a3	T	A	8: 95,092,546 (GRCm39)	I989N	possibly damaging	Het
Sycp3	C	T	10: 88,308,791 (GRCm39)	R246*	probably null	Het
Tmprss11b	T	A	5: 86,819,530 (GRCm39)		probably null	Het
Tmx4	T	C	2: 134,485,922 (GRCm39)	T2A	possibly damaging	Het
Tnfsf10	T	C	3: 27,380,182 (GRCm39)	L82S	possibly damaging	Het
Tnni3k	T	A	3: 154,663,357 (GRCm39)	I332F	possibly damaging	Het
Ttn	T	A	2: 76,644,539 (GRCm39)	T13072S	probably benign	Het
Vmn2r1	A	T	3: 63,997,529 (GRCm39)	Y395F	possibly damaging	Het
Zbbx	A	G	3: 74,979,019 (GRCm39)	V476A	probably benign	Het
Zfp341	T	C	2: 154,479,943 (GRCm39)	C465R	probably damaging	Het
Zfp398	A	G	6: 47,843,016 (GRCm39)	D224G	probably damaging	Het
Zfp407	G	T	18: 84,361,194 (GRCm39)		probably null	Het
Zfp52	T	C	17: 21,775,309 (GRCm39)	M1T	probably null	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
R5173:Epn3	UTSW	11	94,386,923 (GRCm39)	missense	probably damaging	0.97
R6526:Epn3	UTSW	11	94,385,758 (GRCm39)	critical splice donor site	probably null
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'- AAGGGATTAGTGCCAGCCTG -3'
(R):5'- CTGACAGGTAGAGCATTCTGG -3'

Sequencing Primer
(F):5'- CAGCAGTGGCTGAGGCAA -3'
(R):5'- CAGGTAGAGCATTCTGGCCTGG -3'

Posted On

2018-10-18