Mutagenetix > Incidental Mutation

Incidental Mutation 'R6882:Epn3'

536739

Institutional Source

Beutler Lab

Gene Symbol

Epn3

Ensembl Gene

ENSMUSG00000010080

Gene Name

epsin 3

Synonyms

MMRRC Submission

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6882 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

94489599-94499974 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 94491360 bp (GRCm38)

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: 70,956,351	E238G	probably benign	Het
Adgrf5	T	A	17: 43,450,380	C989S	probably damaging	Het
Ank2	T	G	3: 126,945,757		probably benign	Het
C2cd6	T	C	1: 59,066,159	D320G	probably damaging	Het
Cacnb2	T	A	2: 14,824,299	I15N	probably benign	Het
Cage1	T	A	13: 38,022,558	Q437L	probably damaging	Het
Capn15	G	T	17: 25,960,179		probably null	Het
Cbll1	A	G	12: 31,487,485	Y424H	probably damaging	Het
Ccdc166	T	C	15: 75,981,617	H167R	possibly damaging	Het
Ccdc7a	T	C	8: 128,797,328		probably benign	Het
Cdkl4	T	A	17: 80,543,746	T176S	probably damaging	Het
Cnot1	T	C	8: 95,720,426	E2321G	possibly damaging	Het
Col6a5	G	A	9: 105,940,270	Q281*	probably null	Het
Csmd2	A	G	4: 128,449,269	T1485A	probably benign	Het
Dmxl1	A	G	18: 49,843,784		probably null	Het
Dnah3	A	G	7: 119,971,184	I2271T	possibly damaging	Het
Elavl2	A	G	4: 91,308,715	I42T	probably damaging	Het
Etv3	T	C	3: 87,529,270	F111L	probably damaging	Het
Fnip1	A	G	11: 54,509,898	E1041G	probably damaging	Het
Fosl2	T	C	5: 32,152,864	V219A	possibly damaging	Het
Foxj2	T	A	6: 122,828,505		probably null	Het
Gm8947	G	A	1: 151,193,129	A238T	possibly damaging	Het
Golgb1	C	A	16: 36,913,990	Q1200K	probably benign	Het
Igkv4-55	A	G	6: 69,607,305	Y108H	probably damaging	Het
Iglc1	G	A	16: 19,061,849		probably benign	Het
Ints13	G	T	6: 146,563,441	R221S	probably null	Het
Ipo11	T	C	13: 106,900,682		probably null	Het
Kcnn2	A	T	18: 45,559,438	H27L	possibly damaging	Het
Kcns3	C	T	12: 11,092,048	V217M	probably benign	Het
Klra9	A	T	6: 130,179,022	C257S	probably damaging	Het
Lama5	G	A	2: 180,191,662	P1519L	probably damaging	Het
Lmbr1l	A	G	15: 98,907,586	F345L	probably damaging	Het
Lrrc18	A	C	14: 33,008,689	I62L	probably benign	Het
Mr1	A	G	1: 155,132,453	W259R	possibly damaging	Het
Myo15	G	A	11: 60,524,006	R3325H	probably damaging	Het
Nid2	A	G	14: 19,789,707	D788G	probably damaging	Het
Olfr1386	A	T	11: 49,470,463	Y104F	probably benign	Het
Olfr1436	C	A	19: 12,298,570	Q187H	probably damaging	Het
Olfr192	A	T	16: 59,098,627	C122S	unknown	Het
Olfr212	T	C	6: 116,516,434	V219A	probably benign	Het
Pbld1	T	C	10: 63,061,462	L11P	probably benign	Het
Pcnt	T	C	10: 76,427,828	E434G	probably benign	Het
Prg4	G	A	1: 150,453,495	T174M	probably damaging	Het
Prkdc	G	A	16: 15,783,263		probably null	Het
Prkdc	T	A	16: 15,808,156	S3349T	probably benign	Het
Prpf38a	C	A	4: 108,570,168	E199D	probably benign	Het
Prrc2c	TTGCTGCTGCTGCTGCTGCTGCTGCTGC	TTGCTGCTGCTGCTGCTGCTGCTGC	1: 162,709,061		probably benign	Het
Rhbg	T	A	3: 88,245,220	H339L	probably damaging	Het
Rnf183	A	G	4: 62,428,024	I179T	probably benign	Het
Sh3bp5l	G	T	11: 58,331,699	A7S	probably benign	Het
Slc12a3	T	A	8: 94,365,918	I989N	possibly damaging	Het
Sycp3	C	T	10: 88,472,929	R246*	probably null	Het
Tmprss11b	T	A	5: 86,671,671		probably null	Het
Tmx4	T	C	2: 134,644,002	T2A	possibly damaging	Het
Tnfsf10	T	C	3: 27,326,033	L82S	possibly damaging	Het
Tnni3k	T	A	3: 154,957,720	I332F	possibly damaging	Het
Ttn	T	A	2: 76,814,195	T13072S	probably benign	Het
Vmn2r1	A	T	3: 64,090,108	Y395F	possibly damaging	Het
Zbbx	A	G	3: 75,071,712	V476A	probably benign	Het
Zfp341	T	C	2: 154,638,023	C465R	probably damaging	Het
Zfp398	A	G	6: 47,866,082	D224G	probably damaging	Het
Zfp407	G	T	18: 84,343,069		probably null	Het
Zfp52	T	C	17: 21,555,047	M1T	probably null	Het

Other mutations in Epn3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02017:Epn3	APN	11	94495026	missense	probably benign	0.04
IGL03172:Epn3	APN	11	94491630	missense	possibly damaging	0.92
PIT4362001:Epn3	UTSW	11	94496523	missense	probably damaging	1.00
PIT4418001:Epn3	UTSW	11	94496130	missense	probably damaging	1.00
R4893:Epn3	UTSW	11	94491996	missense	probably damaging	0.99
R5173:Epn3	UTSW	11	94496097	missense	probably damaging	0.97
R6526:Epn3	UTSW	11	94494932	critical splice donor site	probably null
R7120:Epn3	UTSW	11	94492428	missense	probably benign	0.41
R7326:Epn3	UTSW	11	94493780	missense	probably benign	0.02
R7861:Epn3	UTSW	11	94496274	missense	probably damaging	1.00
R8373:Epn3	UTSW	11	94492936	missense	probably damaging	1.00
R8507:Epn3	UTSW	11	94493776	missense	probably damaging	0.99
R8742:Epn3	UTSW	11	94496095	missense	probably damaging	1.00
R8757:Epn3	UTSW	11	94496022	missense	possibly damaging	0.94
R8759:Epn3	UTSW	11	94496022	missense	possibly damaging	0.94
R8774:Epn3	UTSW	11	94492394	missense	possibly damaging	0.63
R8774-TAIL:Epn3	UTSW	11	94492394	missense	possibly damaging	0.63
R8983:Epn3	UTSW	11	94496088	missense	probably damaging	1.00
R9040:Epn3	UTSW	11	94491923	missense	possibly damaging	0.65
R9651:Epn3	UTSW	11	94492861	critical splice donor site	probably null
T0975:Epn3	UTSW	11	94491907	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