Mutagenetix > Incidental Mutation

Incidental Mutation 'R9432:Epn1'

713015

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 #

R9432 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

5083234-5101177 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 5096369 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Leucine at position 221 (R221L)

Ref Sequence

ENSEMBL: ENSMUSP00000096445 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000045277] [ENSMUST00000098845] [ENSMUST00000146317] [ENSMUST00000208634]

AlphaFold

Q80VP1

Predicted Effect

probably benign
Transcript: ENSMUST00000045277
AA Change: R221L

PolyPhen 2 Score 0.220 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000043340
Gene: ENSMUSG00000035203
AA Change: R221L

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
AA Change: R221L

PolyPhen 2 Score 0.220 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000096445
Gene: ENSMUSG00000035203
AA Change: R221L

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

possibly damaging
Transcript: ENSMUST00000208634
AA Change: R221L

PolyPhen 2 Score 0.476 (Sensitivity: 0.89; Specificity: 0.90)

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

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: 83 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930522L14Rik	T	C	5: 109,884,917 (GRCm39)	R314G	unknown	Het
Abca13	G	A	11: 9,244,559 (GRCm39)	V2141M	probably benign	Het
Abcc10	G	A	17: 46,634,710 (GRCm39)	A431V	possibly damaging	Het
Acod1	A	G	14: 103,292,414 (GRCm39)	R313G	probably damaging	Het
Adam3	G	T	8: 25,193,928 (GRCm39)	S361R	probably damaging	Het
Ahcyl2	C	T	6: 29,768,874 (GRCm39)	T113M	possibly damaging	Het
Ano8	C	A	8: 71,933,561 (GRCm39)	R577L	unknown	Het
Arhgef7	T	A	8: 11,869,646 (GRCm39)	S653R	probably damaging	Het
Atp10a	G	A	7: 58,469,418 (GRCm39)	V1090I	possibly damaging	Het
Birc6	A	G	17: 74,966,216 (GRCm39)	M4048V	probably benign	Het
C3	G	A	17: 57,530,950 (GRCm39)	P384S	probably damaging	Het
Camkk1	A	T	11: 72,928,757 (GRCm39)	E432V	probably damaging	Het
Celsr3	T	A	9: 108,726,032 (GRCm39)	V3087D	probably benign	Het
Ckap4	A	G	10: 84,363,543 (GRCm39)	S507P	probably damaging	Het
Coq6	G	A	12: 84,420,464 (GRCm39)	M471I	probably benign	Het
Csmd2	C	A	4: 128,171,004 (GRCm39)	H332Q		Het
Cxcr1	T	A	1: 74,231,231 (GRCm39)	N264Y	probably damaging	Het
Dchs2	C	A	3: 83,036,032 (GRCm39)	R260S	possibly damaging	Het
Elmod2	C	A	8: 84,057,761 (GRCm39)	A41S	possibly damaging	Het
Emilin2	G	A	17: 71,581,781 (GRCm39)	T315I	probably benign	Het
Eml1	A	G	12: 108,482,842 (GRCm39)	N487S	probably benign	Het
Faah	A	G	4: 115,874,772 (GRCm39)	V28A	probably benign	Het
Fbl	G	A	7: 27,876,689 (GRCm39)	R230H	probably benign	Het
Fsip2	C	T	2: 82,805,907 (GRCm39)	S742F	probably damaging	Het
Gm5460	A	G	14: 33,767,769 (GRCm39)	D184G	possibly damaging	Het
Gpatch2l	T	C	12: 86,307,408 (GRCm39)	V262A	probably damaging	Het
Grin2c	A	T	11: 115,142,052 (GRCm39)	L789*	probably null	Het
H1f0	C	T	15: 78,912,947 (GRCm39)	P9L	probably damaging	Het
Hectd4	A	G	5: 121,460,864 (GRCm39)	T948A	probably benign	Het
Herc2	G	A	7: 55,780,932 (GRCm39)	G1199D	probably damaging	Het
Hoxb7	G	T	11: 96,177,617 (GRCm39)	A22S	possibly damaging	Het
Ifih1	T	A	2: 62,439,618 (GRCm39)	I519F	probably damaging	Het
Ifit1bl1	T	A	19: 34,571,498 (GRCm39)	I320F	possibly damaging	Het
Iqgap2	T	C	13: 95,774,261 (GRCm39)	T1320A	probably benign	Het
Kat2a	A	G	11: 100,602,178 (GRCm39)	V192A	probably damaging	Het
Kat6b	A	C	14: 21,672,077 (GRCm39)	H329P	probably damaging	Het
Klhl29	A	G	12: 5,260,056 (GRCm39)	L54P	probably benign	Het
Kntc1	A	T	5: 123,925,112 (GRCm39)	I1142F	possibly damaging	Het
Lipo3	A	G	19: 33,533,864 (GRCm39)	Y323H	probably damaging	Het
Lmtk3	G	A	7: 45,441,994 (GRCm39)	V351I	probably damaging	Het
Lrrc8b	T	C	5: 105,633,888 (GRCm39)	S787P	probably benign	Het
Magi1	A	G	6: 93,660,058 (GRCm39)	I1179T	probably damaging	Het
Mapk11	T	C	15: 89,028,631 (GRCm39)	D269G	probably benign	Het
Mfsd13a	T	G	19: 46,354,868 (GRCm39)	I15R	probably benign	Het
Myo1h	G	A	5: 114,499,366 (GRCm39)	V143I	possibly damaging	Het
Naaladl1	T	C	19: 6,156,917 (GRCm39)	I187T	possibly damaging	Het
Nos1	G	A	5: 118,034,871 (GRCm39)	V416M	probably damaging	Het
Or14a256	G	A	7: 86,265,065 (GRCm39)	R263C	possibly damaging	Het
Or14j8	A	G	17: 38,263,559 (GRCm39)	S119P	probably damaging	Het
Or8k30	T	G	2: 86,338,914 (GRCm39)	I37S	probably benign	Het
Pcdh15	A	G	10: 74,460,170 (GRCm39)	T1373A	probably damaging	Het
Pcdh18	T	G	3: 49,699,667 (GRCm39)	M932L	probably damaging	Het
Pcdhb15	T	A	18: 37,608,683 (GRCm39)	H638Q	probably benign	Het
Pcdhb19	A	G	18: 37,630,628 (GRCm39)	E141G	possibly damaging	Het
Pds5b	T	G	5: 150,693,256 (GRCm39)	L656R	probably damaging	Het
Plcl1	T	C	1: 55,445,587 (GRCm39)	L14P	probably benign	Het
Pzp	A	T	6: 128,499,128 (GRCm39)	I173N		Het
Rnf123	C	T	9: 107,937,008 (GRCm39)	R849H	probably damaging	Het
Sfrp5	T	C	19: 42,188,225 (GRCm39)	D198G	probably damaging	Het
Sftpb	G	C	6: 72,283,843 (GRCm39)	A147P	probably benign	Het
Shank1	G	A	7: 43,962,342 (GRCm39)	S71N	unknown	Het
Slc30a6	A	G	17: 74,719,699 (GRCm39)	T220A	possibly damaging	Het
Slc5a3	T	A	16: 91,874,615 (GRCm39)	V224D	probably benign	Het
Smad5	T	A	13: 56,875,417 (GRCm39)	Y202N	probably benign	Het
Smok2b	A	G	17: 13,453,881 (GRCm39)	I14V	probably damaging	Het
Tas2r108	T	A	6: 40,471,121 (GRCm39)	I199K	probably damaging	Het
Tcea2	A	G	2: 181,322,227 (GRCm39)	I10V	probably damaging	Het
Tfg	G	A	16: 56,524,868 (GRCm39)	R113*	probably null	Het
Tubb4a	A	T	17: 57,388,034 (GRCm39)	L331I	probably benign	Het
Ugt2b37	A	G	5: 87,402,046 (GRCm39)	V195A	probably damaging	Het
Umad1	A	G	6: 8,401,096 (GRCm39)	H55R	unknown	Het
Vmn1r176	A	T	7: 23,534,743 (GRCm39)	Y137N	probably damaging	Het
Vmn1r44	T	A	6: 89,870,473 (GRCm39)	M73K	possibly damaging	Het
Vmn2r112	A	G	17: 22,821,233 (GRCm39)	T69A		Het
Vmn2r59	A	T	7: 41,696,254 (GRCm39)	Y163N	probably damaging	Het
Vps13c	T	A	9: 67,830,137 (GRCm39)	D1514E	probably benign	Het
Vsir	A	G	10: 60,193,732 (GRCm39)	D65G	possibly damaging	Het
Ypel3	A	T	7: 126,379,262 (GRCm39)	M112L	probably benign	Het
Zfp26	T	A	9: 20,347,830 (GRCm39)	K911N	probably damaging	Het
Zfp362	C	T	4: 128,670,980 (GRCm39)	R346Q	probably damaging	Het
Zfp595	A	T	13: 67,465,407 (GRCm39)	Y288*	probably null	Het
Zfyve28	G	T	5: 34,400,633 (GRCm39)	Q22K	possibly damaging	Het
Zswim4	T	G	8: 84,963,539 (GRCm39)	D32A	probably damaging	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
R9376:Epn1	UTSW	7	5,086,720 (GRCm39)	unclassified	probably benign
X0065:Epn1	UTSW	7	5,098,092 (GRCm39)	missense	probably benign	0.02

Predicted Primers

PCR Primer
(F):5'- CAGTTAGGCATGCAGCTTCC -3'
(R):5'- GGTGCATGACCTAGTGATACTTG -3'

Sequencing Primer
(F):5'- CATCTTTATCGGTCTGGGAGAACC -3'
(R):5'- AGTGATACTTGTACCCCCAGG -3'

Posted On

2022-05-16