Mutagenetix > Incidental Mutation

Incidental Mutation 'R4703:Epn1'

356207

Institutional Source

Beutler Lab

Gene Symbol

Epn1

Ensembl Gene

ENSMUSG00000035203

Gene Name

epsin 1

Synonyms

Ibp1

MMRRC Submission

041951-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4703 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

5083234-5101177 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 5098147 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 319 (D319E)

Ref Sequence

ENSEMBL: ENSMUSP00000146638 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000045277] [ENSMUST00000098845] [ENSMUST00000208634]

AlphaFold

Q80VP1

Predicted Effect

probably damaging
Transcript: ENSMUST00000045277
AA Change: D319E

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000043340
Gene: ENSMUSG00000035203
AA Change: D319E

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 damaging
Transcript: ENSMUST00000098845
AA Change: D319E

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000096445
Gene: ENSMUSG00000035203
AA Change: D319E

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

noncoding transcript
Transcript: ENSMUST00000152083

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000155436

Predicted Effect

probably damaging
Transcript: ENSMUST00000208634
AA Change: D319E

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.0%
20x: 94.6%

Validation Efficiency

97% (98/101)

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: 89 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4921517D22Rik	T	A	13: 59,837,342 (GRCm39)	T248S	possibly damaging	Het
AA986860	T	C	1: 130,671,092 (GRCm39)	V438A	probably benign	Het
Adam25	G	T	8: 41,207,163 (GRCm39)	C143F	probably damaging	Het
Aox1	T	A	1: 58,398,116 (GRCm39)	F1286I	possibly damaging	Het
Apobec4	A	G	1: 152,632,001 (GRCm39)	T10A	probably benign	Het
Arhgap5	C	T	12: 52,564,366 (GRCm39)	P446S	probably damaging	Het
Arhgef40	A	G	14: 52,239,767 (GRCm39)	N1327S	probably damaging	Het
Armc12	A	G	17: 28,751,336 (GRCm39)	D110G	probably benign	Het
Ascc1	A	G	10: 59,885,624 (GRCm39)	Y225C	probably damaging	Het
Aspscr1	A	T	11: 120,579,771 (GRCm39)	K39N	possibly damaging	Het
B4galnt1	G	T	10: 127,003,394 (GRCm39)	V172F	possibly damaging	Het
B4galt1	A	G	4: 40,823,569 (GRCm39)	V174A	probably benign	Het
Bcl11a	C	A	11: 24,113,725 (GRCm39)	A356E	possibly damaging	Het
Bri3bp	C	T	5: 125,528,830 (GRCm39)	L110F	probably damaging	Het
Cacna1b	T	C	2: 24,544,475 (GRCm39)	D1231G	probably damaging	Het
Ccdc33	T	A	9: 57,940,953 (GRCm39)	I430F	possibly damaging	Het
Cgn	A	G	3: 94,683,405 (GRCm39)		probably benign	Het
Crbn	T	A	6: 106,759,883 (GRCm39)	I317F	possibly damaging	Het
Cyp2d22	A	C	15: 82,260,118 (GRCm39)	L22R	probably damaging	Het
Dnah7a	C	T	1: 53,486,476 (GRCm39)		probably null	Het
Dnajc12	A	G	10: 63,222,429 (GRCm39)		probably null	Het
Dntt	T	A	19: 41,028,242 (GRCm39)	D179E	probably benign	Het
Enam	T	A	5: 88,651,650 (GRCm39)	L1053*	probably null	Het
Evpl	C	G	11: 116,113,331 (GRCm39)	R1453P	probably damaging	Het
Focad	T	A	4: 88,260,558 (GRCm39)		probably null	Het
Foxp2	A	T	6: 15,411,247 (GRCm39)	M542L	probably benign	Het
Gak	T	A	5: 108,717,743 (GRCm39)	Q1299L	probably damaging	Het
Galnt5	G	T	2: 57,888,919 (GRCm39)	R173I	possibly damaging	Het
Gli1	G	T	10: 127,166,724 (GRCm39)	P843Q	possibly damaging	Het
Gm5422	G	T	10: 31,125,608 (GRCm39)		noncoding transcript	Het
Gna14	T	G	19: 16,576,344 (GRCm39)	V117G	possibly damaging	Het
Gpr6	T	C	10: 40,947,037 (GRCm39)	T182A	probably damaging	Het
Ifi204	C	A	1: 173,587,927 (GRCm39)		probably benign	Het
Ifih1	A	T	2: 62,429,220 (GRCm39)	L906H	probably benign	Het
Ift88	A	G	14: 57,718,307 (GRCm39)		probably benign	Het
Ighd	A	G	12: 113,379,661 (GRCm39)		probably benign	Het
Ighv11-1	A	C	12: 113,945,622 (GRCm39)	I77R	possibly damaging	Het
Il22	A	T	10: 118,041,511 (GRCm39)	I75F	probably damaging	Het
Il23r	A	T	6: 67,467,686 (GRCm39)	I27K	probably damaging	Het
Inpp5a	A	C	7: 139,138,839 (GRCm39)	N261T	probably damaging	Het
Ints8	T	G	4: 11,223,785 (GRCm39)	Q686P	possibly damaging	Het
Iqcf4	T	C	9: 106,445,519 (GRCm39)		probably null	Het
Irf2bp1	C	T	7: 18,739,496 (GRCm39)	R379C	possibly damaging	Het
Iws1	C	T	18: 32,213,066 (GRCm39)	P165S	probably benign	Het
Kalrn	T	C	16: 34,024,327 (GRCm39)	D610G	probably damaging	Het
Kcna10	A	T	3: 107,101,926 (GRCm39)	I186F	probably benign	Het
Limk2	C	A	11: 3,297,586 (GRCm39)	E329*	probably null	Het
Nadk	C	A	4: 155,669,684 (GRCm39)	P157T	probably benign	Het
Notch1	T	G	2: 26,361,170 (GRCm39)	K1107Q	probably benign	Het
Nsd1	T	A	13: 55,361,876 (GRCm39)	D281E	probably damaging	Het
Obi1	A	G	14: 104,743,644 (GRCm39)	L145P	probably benign	Het
Olfml2a	T	A	2: 38,841,250 (GRCm39)	L262Q	probably damaging	Het
Or1ab2	T	A	8: 72,864,044 (GRCm39)	F211L	probably damaging	Het
Or4k44	T	A	2: 111,368,113 (GRCm39)	I174L	probably benign	Het
Or51d1	A	T	7: 102,347,477 (GRCm39)	T11S	probably benign	Het
Or6k6	A	G	1: 173,944,964 (GRCm39)	I206T	possibly damaging	Het
Or7c19	A	G	8: 85,957,237 (GRCm39)	T38A	possibly damaging	Het
Otogl	A	C	10: 107,657,785 (GRCm39)	D1048E	probably damaging	Het
Oxnad1	T	C	14: 31,817,427 (GRCm39)	W96R	probably damaging	Het
Pcdh15	A	T	10: 74,285,995 (GRCm39)	D743V	probably damaging	Het
Pclo	A	G	5: 14,726,494 (GRCm39)		probably benign	Het
Pcnx1	C	T	12: 81,941,938 (GRCm39)	T112I	probably benign	Het
Pctp	T	C	11: 89,878,099 (GRCm39)	E145G	possibly damaging	Het
Pip5k1b	T	C	19: 24,332,517 (GRCm39)	K389R	probably damaging	Het
Pla2g15	T	A	8: 106,889,691 (GRCm39)	M321K	probably benign	Het
Pnlip	T	A	19: 58,664,899 (GRCm39)	D242E	probably damaging	Het
Ptpn21	T	C	12: 98,645,651 (GRCm39)	T1096A	probably benign	Het
Rims3	A	T	4: 120,740,494 (GRCm39)		probably benign	Het
Scfd2	T	A	5: 74,680,256 (GRCm39)	Q299L	probably benign	Het
Selplg	T	C	5: 113,957,094 (GRCm39)	D404G	probably benign	Het
Slc15a5	T	C	6: 138,032,643 (GRCm39)	D237G	probably benign	Het
Slc16a12	T	A	19: 34,652,291 (GRCm39)	H285L	possibly damaging	Het
Sox2	C	A	3: 34,704,862 (GRCm39)	R100S	probably damaging	Het
Sspo	G	A	6: 48,477,387 (GRCm39)	C4969Y	probably damaging	Het
Stxbp2	A	G	8: 3,682,521 (GRCm39)	S37G	probably damaging	Het
Tbxas1	T	C	6: 39,060,791 (GRCm39)		probably null	Het
Tcf4	A	G	18: 69,790,981 (GRCm39)	Y307C	probably damaging	Het
Thsd7b	A	T	1: 129,977,646 (GRCm39)		probably benign	Het
Tnn	G	T	1: 159,943,815 (GRCm39)	D999E	possibly damaging	Het
Trmt13	C	A	3: 116,388,247 (GRCm39)	W63L	probably benign	Het
Tsc2	T	C	17: 24,823,883 (GRCm39)	N915S	probably benign	Het
Tyrp1	T	A	4: 80,759,043 (GRCm39)		probably null	Het
Uvrag	A	T	7: 98,638,794 (GRCm39)	I315N	probably damaging	Het
Vmn1r31	C	A	6: 58,448,953 (GRCm39)	*304L	probably null	Het
Vmn2r59	T	A	7: 41,661,686 (GRCm39)	I710L	probably benign	Het
Vmn2r82	A	T	10: 79,214,641 (GRCm39)	H208L	probably damaging	Het
Wtap	T	C	17: 13,199,711 (GRCm39)	T91A	probably benign	Het
Xirp1	A	T	9: 119,846,093 (GRCm39)	V930E	probably damaging	Het
Xpo4	T	G	14: 57,827,565 (GRCm39)	H877P	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
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
R9376:Epn1	UTSW	7	5,086,720 (GRCm39)	unclassified	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'- AGTCATCTCTCATGGATCTTGC -3'
(R):5'- TGCCTTGGCCATCTCACAAC -3'

Sequencing Primer
(F):5'- ATGGATCTTGCTGATGTCTTCACAAC -3'
(R):5'- ACTCTGCGTAAGGCCTTCC -3'

Posted On

2015-10-21