Mutagenetix > Incidental Mutation

Incidental Mutation 'R6251:Epn1'

506223

Institutional Source

Beutler Lab

Gene Symbol

Epn1

Ensembl Gene

ENSMUSG00000035203

Gene Name

epsin 1

Synonyms

Ibp1

MMRRC Submission

044368-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6251 (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 5098935 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Leucine at position 409 (R409L)

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: R408L

PolyPhen 2 Score 0.975 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000043340
Gene: ENSMUSG00000035203
AA Change: R408L

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: R408L

PolyPhen 2 Score 0.975 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000096445
Gene: ENSMUSG00000035203
AA Change: R408L

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: R409L

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.6%
20x: 96.3%

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: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
3100002H09Rik	A	G	4: 124,504,445 (GRCm39)	S36P	probably damaging	Het
Agmo	A	G	12: 37,302,538 (GRCm39)	D125G	probably damaging	Het
Arhgap26	A	T	18: 39,490,880 (GRCm39)	S328C	probably null	Het
Arl6	T	C	16: 59,439,169 (GRCm39)	D175G	probably damaging	Het
Asb3	G	A	11: 31,005,559 (GRCm39)	A192T	probably damaging	Het
Atp10b	A	T	11: 43,126,573 (GRCm39)	M1110L	possibly damaging	Het
Cacna1i	T	C	15: 80,220,883 (GRCm39)	I175T	probably damaging	Het
Car15	A	T	16: 17,655,227 (GRCm39)	I71N	probably benign	Het
Casq1	T	A	1: 172,044,407 (GRCm39)	Y140F	probably benign	Het
Ccdc93	C	T	1: 121,362,269 (GRCm39)	T17M	possibly damaging	Het
Cfap46	CCTTCTTCT	CCTTCT	7: 139,218,816 (GRCm39)		probably benign	Het
Ciart	G	A	3: 95,788,323 (GRCm39)		probably benign	Het
Cul5	A	T	9: 53,558,094 (GRCm39)	V170D	probably benign	Het
Cyb5r3	T	C	15: 83,038,917 (GRCm39)	D224G	probably benign	Het
Daam1	G	A	12: 72,035,723 (GRCm39)	G964R	probably damaging	Het
Daglb	T	A	5: 143,475,689 (GRCm39)	L383Q	probably damaging	Het
Dazap2	T	G	15: 100,514,864 (GRCm39)	H28Q	possibly damaging	Het
Dnttip2	A	T	3: 122,068,905 (GRCm39)	D40V	probably benign	Het
Dynlt2b	T	A	16: 32,245,727 (GRCm39)	D125E	possibly damaging	Het
Evc	T	C	5: 37,457,843 (GRCm39)	T966A	probably benign	Het
Extl3	T	C	14: 65,314,375 (GRCm39)	D269G	probably damaging	Het
Gfra3	TGCGC	TGC	18: 34,828,864 (GRCm39)		probably null	Het
Gpr87	A	T	3: 59,086,528 (GRCm39)	F326I	probably damaging	Het
Hivep3	C	A	4: 119,952,137 (GRCm39)	P151H	probably damaging	Het
Kcnj14	T	A	7: 45,467,440 (GRCm39)	E302V	probably damaging	Het
Kdm5d	T	C	Y: 921,693 (GRCm39)	Y534H	probably damaging	Homo
Map3k5	T	A	10: 20,014,006 (GRCm39)		probably null	Het
Mdn1	A	G	4: 32,748,590 (GRCm39)	T4212A	probably benign	Het
Ms4a6d	A	T	19: 11,564,504 (GRCm39)	S122R	probably damaging	Het
Mtarc1	G	A	1: 184,527,648 (GRCm39)	R271W	probably damaging	Het
Nectin3	A	T	16: 46,215,513 (GRCm39)	H76Q	probably damaging	Het
Notch1	C	A	2: 26,364,182 (GRCm39)	E846D	possibly damaging	Het
Or1e23	A	G	11: 73,407,534 (GRCm39)	S164P	probably benign	Het
Or4a67	T	C	2: 88,598,632 (GRCm39)	E9G	probably damaging	Het
Or8b36	GTTT	GTTTGCTTTTT	9: 37,937,842 (GRCm39)		probably null	Het
Or8b36	TT	TTGCTGTGT	9: 37,937,844 (GRCm39)		probably null	Het
Or8b36	G	GGGATTGC	9: 37,937,833 (GRCm39)		probably null	Het
Or8b36	TGTTT	TGTTTGCAGTTT	9: 37,937,841 (GRCm39)		probably null	Het
Or8g18	T	A	9: 39,149,514 (GRCm39)	I72F	possibly damaging	Het
Pfkl	C	T	10: 77,825,399 (GRCm39)		probably null	Het
Pigz	T	C	16: 31,764,424 (GRCm39)	V494A	possibly damaging	Het
Pik3r4	T	C	9: 105,531,247 (GRCm39)	V516A	probably benign	Het
Polr2b	G	A	5: 77,496,141 (GRCm39)	R1104K	probably benign	Het
Rap1a	A	T	3: 105,639,311 (GRCm39)	L116*	probably null	Het
Rnf114	T	C	2: 167,356,649 (GRCm39)	*230R	probably null	Het
Rtl1	G	T	12: 109,560,083 (GRCm39)	N585K	probably benign	Het
Serpinb5	G	T	1: 106,802,795 (GRCm39)	R110I	possibly damaging	Het
Spink6	T	C	18: 44,207,498 (GRCm39)		probably null	Het
Spopfm1	G	T	3: 94,173,208 (GRCm39)	S72I	probably damaging	Het
Stk39	A	T	2: 68,137,383 (GRCm39)		probably null	Het
Tcstv2a	T	C	13: 120,724,907 (GRCm39)		probably benign	Het
Tcte1	A	T	17: 45,846,085 (GRCm39)	T230S	probably benign	Het
Tecpr1	C	A	5: 144,135,394 (GRCm39)	V1020L	probably damaging	Het
Tmc7	T	C	7: 118,160,261 (GRCm39)	Y192C	possibly damaging	Het
Trim63	A	T	4: 134,050,537 (GRCm39)	T274S	probably benign	Het
Wdr43	G	A	17: 71,957,048 (GRCm39)		probably null	Het
Zfr	T	C	15: 12,160,677 (GRCm39)	I750T	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	5,098,925 (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'- TACTGGGCTGCCCTTTGATG -3'
(R):5'- CACGCGGTTAAACAGAAGAC -3'

Sequencing Primer
(F):5'- ATGGGCTAGGGTGGCAGTC -3'
(R):5'- GGAGAGGATATCCATTGTTACACATC -3'

Posted On

2018-03-15