Mutagenetix > Incidental Mutation

Incidental Mutation 'R9376:Epn1'

709619

Institutional Source

Beutler Lab

Gene Symbol

Epn1

Ensembl Gene

ENSMUSG00000035203

Gene Name

epsin 1

Synonyms

Ibp1

MMRRC Submission

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R9376 (G1)

Quality Score

221.009

Status

Not validated

Chromosome

Chromosomal Location

5083234-5101177 bp(+) (GRCm39)

Type of Mutation

unclassified

DNA Base Change (assembly)

A to T at 5086720 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000147013 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000005041] [ENSMUST00000045277] [ENSMUST00000098845] [ENSMUST00000146317] [ENSMUST00000153169] [ENSMUST00000165399] [ENSMUST00000208634] [ENSMUST00000209099]

AlphaFold

Q80VP1

Predicted Effect

probably benign
Transcript: ENSMUST00000005041

SMART Domains

Protein: ENSMUSP00000005041
Gene: ENSMUSG00000030435

Domain	Start	End	E-Value	Type
low complexity region	23	62	N/A	INTRINSIC
PDB:1JMT\|B	85	112	9e-13	PDB
RRM	150	227	1.26e-11	SMART
low complexity region	242	257	N/A	INTRINSIC
RRM	260	333	8.64e-19	SMART
RRM	377	462	3.04e-2	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000045277

SMART Domains

Protein: ENSMUSP00000043340
Gene: ENSMUSG00000035203

Domain	Start	End	E-Value	Type
ENTH	18	144	5.84e-65	SMART
low complexity region	157	174	N/A	INTRINSIC
UIM	183	202	2.94e-1	SMART
UIM	208	227	4.15e-1	SMART
UIM	233	252	5.48e-1	SMART
low complexity region	279	293	N/A	INTRINSIC
low complexity region	294	316	N/A	INTRINSIC
low complexity region	332	350	N/A	INTRINSIC
low complexity region	363	379	N/A	INTRINSIC
low complexity region	454	466	N/A	INTRINSIC
low complexity region	536	545	N/A	INTRINSIC
low complexity region	550	566	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000098845

SMART Domains

Protein: ENSMUSP00000096445
Gene: ENSMUSG00000035203

Domain	Start	End	E-Value	Type
ENTH	18	144	5.84e-65	SMART
low complexity region	157	174	N/A	INTRINSIC
UIM	183	202	2.94e-1	SMART
UIM	208	227	4.15e-1	SMART
UIM	233	252	5.48e-1	SMART
low complexity region	279	293	N/A	INTRINSIC
low complexity region	294	316	N/A	INTRINSIC
low complexity region	332	350	N/A	INTRINSIC
low complexity region	363	379	N/A	INTRINSIC
low complexity region	454	466	N/A	INTRINSIC
low complexity region	536	545	N/A	INTRINSIC
low complexity region	550	566	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000146317

SMART Domains

Protein: ENSMUSP00000116571
Gene: ENSMUSG00000035203

Domain	Start	End	E-Value	Type
Pfam:ENTH	17	90	7.4e-36	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000153169

SMART Domains

Protein: ENSMUSP00000122594
Gene: ENSMUSG00000035203

Domain	Start	End	E-Value	Type
Pfam:ENTH	17	54	3.8e-14	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000165399

SMART Domains

Protein: ENSMUSP00000131458
Gene: ENSMUSG00000030435

Domain	Start	End	E-Value	Type
RRM	8	63	3.31e0	SMART
low complexity region	78	93	N/A	INTRINSIC
RRM	96	169	8.64e-19	SMART
RRM	209	294	3.04e-2	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000207498

Predicted Effect

probably benign
Transcript: ENSMUST00000208634

Predicted Effect

probably benign
Transcript: ENSMUST00000209099

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.9%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the epsin protein family. The encoded protein binds clathrin and is involved in the endocytosis of clathrin-coated vesicles. Loss of function of this gene is associated with reduced tumor growth and progression in certain cancer types. [provided by RefSeq, Mar 2016]
PHENOTYPE: Mice homozygous for a null mutation are viable and fertile with no gross abnormalities. Mice homozygous null for both Epn1 and Epn2 display defects in angiogenic vascular remodeling, impaired somitogenesis and extensive cell death in the nervous tissue, resulting in lethality during organogenesis. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca14	T	A	7: 119,893,438 (GRCm39)	L1296H	probably damaging	Het
Abcb4	A	T	5: 9,008,988 (GRCm39)	D1215V	probably damaging	Het
Ache	A	C	5: 137,289,025 (GRCm39)	I244L	probably benign	Het
Ankrd13d	A	T	19: 4,332,250 (GRCm39)	V58D	probably damaging	Het
Ano3	A	G	2: 110,496,782 (GRCm39)	L789S	probably damaging	Het
Atp2a3	T	C	11: 72,863,290 (GRCm39)	V129A	probably damaging	Het
Cldn11	T	C	3: 31,217,410 (GRCm39)	S193P	possibly damaging	Het
Clpb	A	T	7: 101,360,625 (GRCm39)	R218S	probably benign	Het
Cntln	A	G	4: 84,875,258 (GRCm39)	S231G	probably benign	Het
Cntn4	T	C	6: 106,639,591 (GRCm39)	Y574H	probably damaging	Het
Col6a3	C	T	1: 90,709,523 (GRCm39)	R2498H	unknown	Het
Ctdnep1	T	C	11: 69,875,594 (GRCm39)	V108A	probably damaging	Het
Cyp2c67	A	T	19: 39,627,178 (GRCm39)	N217K	probably damaging	Het
Dao	T	A	5: 114,147,901 (GRCm39)	M1K	probably null	Het
Dchs1	A	G	7: 105,414,981 (GRCm39)		probably null	Het
Dennd4a	A	T	9: 64,819,974 (GRCm39)	I1809L	probably benign	Het
Dnah7a	T	A	1: 53,568,058 (GRCm39)		probably null	Het
Erich1	A	G	8: 14,080,719 (GRCm39)	S267P	probably damaging	Het
Gm17732	G	T	18: 62,795,936 (GRCm39)	V41L	probably damaging	Het
Gpaa1	C	A	15: 76,218,826 (GRCm39)	T556K	possibly damaging	Het
Gpr65	T	A	12: 98,241,523 (GRCm39)	S59T	probably damaging	Het
Hydin	T	C	8: 111,124,695 (GRCm39)	V568A	possibly damaging	Het
Ifi205	T	C	1: 173,854,221 (GRCm39)	D144G	probably benign	Het
Itga1	T	C	13: 115,107,112 (GRCm39)	H993R	probably benign	Het
Itgax	T	C	7: 127,747,935 (GRCm39)	L1075P	possibly damaging	Het
Itpr1	T	A	6: 108,326,638 (GRCm39)	V120E	probably damaging	Het
Kdm3b	T	C	18: 34,970,718 (GRCm39)	S1762P	probably damaging	Het
Krt80	T	A	15: 101,247,978 (GRCm39)	T221S	unknown	Het
Lama2	T	C	10: 26,994,620 (GRCm39)	D1763G	probably benign	Het
Lrp5	T	C	19: 3,670,286 (GRCm39)	D606G	probably benign	Het
Map6d1	T	C	16: 20,059,933 (GRCm39)	D44G	probably benign	Het
Mtmr11	T	A	3: 96,072,372 (GRCm39)	I282K	probably benign	Het
Nalcn	G	A	14: 123,515,713 (GRCm39)	T1696M	possibly damaging	Het
Nup214	T	C	2: 31,924,244 (GRCm39)	V1591A	probably benign	Het
Oas1f	C	A	5: 120,986,243 (GRCm39)	Y65*	probably null	Het
Or1x6	T	A	11: 50,939,662 (GRCm39)	C243S	probably damaging	Het
Or2t43	T	A	11: 58,457,683 (GRCm39)	T163S	possibly damaging	Het
Or2t46	T	C	11: 58,472,636 (GRCm39)	V322A	probably benign	Het
Or51f1e	A	T	7: 102,746,971 (GRCm39)	T8S	probably benign	Het
Or5p58	A	T	7: 107,694,471 (GRCm39)	I102K	possibly damaging	Het
Palld	C	T	8: 61,969,691 (GRCm39)	R1211H	unknown	Het
Pigyl	A	G	9: 22,069,324 (GRCm39)	I12V	probably benign	Het
Pno1	A	T	11: 17,158,791 (GRCm39)	D202E	probably benign	Het
Ppp5c	A	T	7: 16,743,849 (GRCm39)	M195K	probably damaging	Het
Prrc2a	A	T	17: 35,369,598 (GRCm39)	F1905Y	possibly damaging	Het
Ptpn11	C	A	5: 121,282,681 (GRCm39)	D435Y	probably damaging	Het
Rbm33	A	G	5: 28,544,164 (GRCm39)	Y140C	probably damaging	Het
Runx1t1	A	G	4: 13,865,225 (GRCm39)	E339G	possibly damaging	Het
Scube3	G	T	17: 28,383,670 (GRCm39)	K480N	possibly damaging	Het
Sephs1	T	A	2: 4,910,469 (GRCm39)	M313K	probably benign	Het
Tcaim	T	C	9: 122,655,995 (GRCm39)	W304R	probably damaging	Het
Terf2ip	C	T	8: 112,738,514 (GRCm39)	T134I	probably damaging	Het
Terf2ip	A	G	8: 112,744,528 (GRCm39)	T282A	probably benign	Het
Tnfrsf18	G	T	4: 156,112,448 (GRCm39)	A102S	probably benign	Het
Trim10	A	T	17: 37,184,168 (GRCm39)	I254F	probably benign	Het
Triqk	A	G	4: 12,962,987 (GRCm39)	T9A	probably benign	Het
Tshz2	G	A	2: 169,726,013 (GRCm39)	S203N	probably benign	Het
Zc3h13	G	A	14: 75,561,128 (GRCm39)	V573I	unknown	Het
Zfhx4	A	G	3: 5,306,833 (GRCm39)	K20E	probably damaging	Het
Zfhx4	A	G	3: 5,465,395 (GRCm39)	D1876G	probably benign	Het

Other mutations in Epn1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02227:Epn1	APN	7	5,098,035 (GRCm39)	missense	probably benign	0.19
IGL03126:Epn1	APN	7	5,098,684 (GRCm39)	missense	probably benign	0.01
epsilon	UTSW	7	5,098,047 (GRCm39)	missense	probably benign
R1074:Epn1	UTSW	7	5,098,047 (GRCm39)	missense	probably benign
R1365:Epn1	UTSW	7	5,096,369 (GRCm39)	missense	probably benign	0.05
R1848:Epn1	UTSW	7	5,092,997 (GRCm39)	missense	probably damaging	1.00
R2041:Epn1	UTSW	7	5,086,874 (GRCm39)	missense	probably damaging	0.99
R2237:Epn1	UTSW	7	5,100,601 (GRCm39)	missense	probably damaging	0.98
R2238:Epn1	UTSW	7	5,100,601 (GRCm39)	missense	probably damaging	0.98
R2239:Epn1	UTSW	7	5,100,601 (GRCm39)	missense	probably damaging	0.98
R4255:Epn1	UTSW	7	5,100,637 (GRCm39)	missense	probably damaging	1.00
R4324:Epn1	UTSW	7	5,100,210 (GRCm39)	missense	probably benign	0.07
R4542:Epn1	UTSW	7	5,096,980 (GRCm39)	missense	possibly damaging	0.63
R4703:Epn1	UTSW	7	5,098,147 (GRCm39)	missense	probably damaging	0.99
R4740:Epn1	UTSW	7	5,093,012 (GRCm39)	missense	probably damaging	1.00
R4845:Epn1	UTSW	7	5,096,908 (GRCm39)	missense	possibly damaging	0.94
R5838:Epn1	UTSW	7	5,100,165 (GRCm39)	nonsense	probably null
R5952:Epn1	UTSW	7	5,096,911 (GRCm39)	missense	probably damaging	1.00
R6251:Epn1	UTSW	7	5,098,935 (GRCm39)	missense	probably damaging	1.00
R6251:Epn1	UTSW	7	5,098,925 (GRCm39)	missense	probably damaging	1.00
R6296:Epn1	UTSW	7	5,093,122 (GRCm39)	missense	probably damaging	0.98
R6710:Epn1	UTSW	7	5,100,303 (GRCm39)	missense	probably damaging	0.99
R6937:Epn1	UTSW	7	5,092,943 (GRCm39)	missense	probably damaging	1.00
R7196:Epn1	UTSW	7	5,096,380 (GRCm39)	missense	possibly damaging	0.68
R7420:Epn1	UTSW	7	5,100,687 (GRCm39)	missense	possibly damaging	0.77
R7948:Epn1	UTSW	7	5,092,992 (GRCm39)	nonsense	probably null
R8766:Epn1	UTSW	7	5,095,860 (GRCm39)	missense	possibly damaging	0.63
R8843:Epn1	UTSW	7	5,096,375 (GRCm39)	missense	probably benign	0.36
R9059:Epn1	UTSW	7	5,098,067 (GRCm39)	missense	probably benign	0.00
R9315:Epn1	UTSW	7	5,096,339 (GRCm39)	missense	probably benign
R9432:Epn1	UTSW	7	5,096,369 (GRCm39)	missense	probably benign	0.22
X0065:Epn1	UTSW	7	5,098,092 (GRCm39)	missense	probably benign	0.02

Predicted Primers

PCR Primer
(F):5'- GAGTCTTCTCAGCCACTTAGC -3'
(R):5'- TGCTCATGATCTCGGAGAAGG -3'

Sequencing Primer
(F):5'- TCAGCCACTTAGCATCTTGC -3'
(R):5'- CCACAACATTGTAGGTGAGGTC -3'

Posted On

2022-04-18