Mutagenetix > Incidental Mutation

Incidental Mutation 'R2238:Epn1'

240236

Institutional Source

Beutler Lab

Gene Symbol

Epn1

Ensembl Gene

ENSMUSG00000035203

Gene Name

epsin 1

Synonyms

Ibp1

MMRRC Submission

040238-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R2238 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

5083234-5101177 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 5100601 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 518 (N518S)

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: N517S

PolyPhen 2 Score 0.966 (Sensitivity: 0.77; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000043340
Gene: ENSMUSG00000035203
AA Change: N517S

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: N517S

PolyPhen 2 Score 0.966 (Sensitivity: 0.77; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000096445
Gene: ENSMUSG00000035203
AA Change: N517S

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: N518S

PolyPhen 2 Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)

Coding Region Coverage

1x: 99.1%
3x: 98.6%
10x: 97.3%
20x: 95.0%

Validation Efficiency

98% (59/60)

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: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aadacl4fm1	T	A	4: 144,246,469 (GRCm39)	V5E	possibly damaging	Het
Acaca	T	C	11: 84,282,331 (GRCm39)		probably benign	Het
Adam18	T	C	8: 25,136,303 (GRCm39)	E406G	probably benign	Het
Adgrl4	A	T	3: 151,205,779 (GRCm39)	I164F	probably damaging	Het
Arhgap36	G	T	X: 48,582,282 (GRCm39)	V60L	possibly damaging	Het
Bmi1	T	C	2: 18,688,225 (GRCm39)		probably benign	Het
Carf	T	C	1: 60,187,193 (GRCm39)	S599P	probably benign	Het
Cdc37	G	A	9: 21,053,829 (GRCm39)	Q176*	probably null	Het
Clca3a1	T	A	3: 144,457,766 (GRCm39)	I373F	possibly damaging	Het
Clnk	A	G	5: 38,921,694 (GRCm39)		probably benign	Het
Cnot1	T	C	8: 96,496,149 (GRCm39)	I342V	probably benign	Het
Dact2	A	T	17: 14,417,312 (GRCm39)	L296Q	probably damaging	Het
Dctn2	C	T	10: 127,112,257 (GRCm39)	T123I	probably damaging	Het
Deup1	A	C	9: 15,486,597 (GRCm39)	I455S	probably damaging	Het
Dnmbp	A	G	19: 43,857,303 (GRCm39)	V957A	possibly damaging	Het
Emilin2	T	C	17: 71,581,734 (GRCm39)	R331G	possibly damaging	Het
Eomes	A	G	9: 118,311,359 (GRCm39)	D394G	probably damaging	Het
Gbf1	T	C	19: 46,152,057 (GRCm39)	I30T	probably benign	Het
Gcc1	A	G	6: 28,420,462 (GRCm39)	V285A	probably benign	Het
Gopc	T	C	10: 52,229,499 (GRCm39)	H188R	probably damaging	Het
Herc6	A	G	6: 57,631,386 (GRCm39)	N693D	probably benign	Het
Hipk2	A	G	6: 38,706,850 (GRCm39)		probably benign	Het
Htatsf1	G	T	X: 56,111,864 (GRCm39)	D642Y	unknown	Het
Ints1	G	A	5: 139,750,955 (GRCm39)	T814M	possibly damaging	Het
Kdm6a	T	C	X: 18,065,476 (GRCm39)	F104S	probably damaging	Het
Kdr	T	A	5: 76,110,179 (GRCm39)	Y936F	possibly damaging	Het
Ly6k	T	C	15: 74,669,018 (GRCm39)	E87G	probably benign	Het
Lyst	A	G	13: 13,917,848 (GRCm39)	N3303D	probably benign	Het
Mindy4	T	C	6: 55,278,055 (GRCm39)	F633S	probably damaging	Het
Msl2	T	A	9: 100,978,569 (GRCm39)	N314K	probably benign	Het
Ncapd3	A	G	9: 26,978,320 (GRCm39)	T840A	probably benign	Het
Neil3	T	C	8: 54,052,311 (GRCm39)	D429G	possibly damaging	Het
Nt5c1b	C	A	12: 10,425,558 (GRCm39)	T309K	probably damaging	Het
Nt5c1b	A	G	12: 10,440,108 (GRCm39)	Y550C	probably damaging	Het
Or10v5	T	C	19: 11,805,814 (GRCm39)	D192G	probably damaging	Het
Pabpc4l	A	C	3: 46,401,137 (GRCm39)	V169G	probably damaging	Het
Pcgf5	A	T	19: 36,414,754 (GRCm39)	N105I	probably damaging	Het
Phka2	A	G	X: 159,324,408 (GRCm39)	E254G	probably damaging	Het
Pik3cb	A	G	9: 98,923,081 (GRCm39)	Y984H	probably damaging	Het
Ptprz1	A	T	6: 22,987,376 (GRCm39)	Q387L	probably damaging	Het
Rassf8	T	C	6: 145,762,910 (GRCm39)	V419A	probably damaging	Het
Rnf148	T	C	6: 23,654,345 (GRCm39)	Y217C	probably benign	Het
Sec24d	T	A	3: 123,143,543 (GRCm39)		probably null	Het
Sesn3	T	C	9: 14,219,761 (GRCm39)	V50A	probably benign	Het
Sgcd	T	C	11: 47,023,509 (GRCm39)	N99D	possibly damaging	Het
Sncaip	T	C	18: 53,001,619 (GRCm39)	S47P	probably damaging	Het
Sp2	C	T	11: 96,846,762 (GRCm39)	C527Y	probably damaging	Het
Spata4	A	C	8: 55,055,664 (GRCm39)	K185T	probably benign	Het
Spin2c	A	G	X: 152,616,672 (GRCm39)	I162V	probably damaging	Het
Srcin1	T	C	11: 97,425,645 (GRCm39)	T471A	probably benign	Het
Stac	G	A	9: 111,519,190 (GRCm39)		probably benign	Het
Tcaf3	A	G	6: 42,570,262 (GRCm39)	Y497H	probably benign	Het
Tmem40	C	T	6: 115,708,038 (GRCm39)	W150*	probably null	Het
Tmem59l	T	C	8: 70,937,772 (GRCm39)	T203A	probably damaging	Het
Tnfsf11	A	T	14: 78,537,421 (GRCm39)	S81T	possibly damaging	Het
Topaz1	C	T	9: 122,600,212 (GRCm39)	T984I	probably benign	Het
Vmn1r204	A	G	13: 22,740,993 (GRCm39)	H208R	probably benign	Het
Vmn2r98	T	A	17: 19,286,213 (GRCm39)	M237K	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
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
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'- AACCCATTCCTTCCAAGCGG -3'
(R):5'- CCTCCTACCCTGGATTATAGGAG -3'

Sequencing Primer
(F):5'- CATTCCTTCCAAGCGGTGAGTG -3'
(R):5'- TCCTACCCTGGATTATAGGAGGAAGG -3'

Posted On

2014-10-15