Mutagenetix > Incidental Mutation

Incidental Mutation 'R6296:Epn1'

508764

Institutional Source

Beutler Lab

Gene Symbol

Epn1

Ensembl Gene

ENSMUSG00000035203

Gene Name

epsin 1

Synonyms

Ibp1

MMRRC Submission

044407-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6296 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

5080235-5098178 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 5090123 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Threonine at position 145 (A145T)

Ref Sequence

ENSEMBL: ENSMUSP00000146638 (fasta)

Gene Model

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

AlphaFold

Q80VP1

Predicted Effect

probably damaging
Transcript: ENSMUST00000045277
AA Change: A145T

PolyPhen 2 Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000043340
Gene: ENSMUSG00000035203
AA Change: A145T

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: A145T

PolyPhen 2 Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000096445
Gene: ENSMUSG00000035203
AA Change: A145T

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

noncoding transcript
Transcript: ENSMUST00000152083

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000155436

Predicted Effect

probably damaging
Transcript: ENSMUST00000208634
AA Change: A145T

PolyPhen 2 Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.6%

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: 82 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700014D04Rik	T	C	13: 59,742,683	D441G	probably benign	Het
4933427D14Rik	T	C	11: 72,195,754	K277R	probably damaging	Het
5730559C18Rik	C	T	1: 136,221,071		probably null	Het
Aatf	T	C	11: 84,473,100	Y267C	probably benign	Het
Adcy5	A	G	16: 35,303,710	Y1253C	probably damaging	Het
Adgra3	G	A	5: 49,960,847	P1120S	probably benign	Het
Adm	A	G	7: 110,628,354	T26A	probably benign	Het
Ahnak	T	G	19: 9,003,305	V651G	probably damaging	Het
Akr7a5	G	A	4: 139,318,221	V358I	probably benign	Het
Ankar	T	G	1: 72,643,258	T1383P	probably damaging	Het
Bpifb6	G	C	2: 153,906,892	K269N	possibly damaging	Het
Cacna1c	T	C	6: 118,598,723	E1927G	possibly damaging	Het
Cacna1c	T	A	6: 118,652,714	T1249S	probably benign	Het
Cacna1h	G	A	17: 25,383,079	R1596C	probably damaging	Het
Cbll1	A	G	12: 31,487,508	V415A	probably benign	Het
Cd300lf	C	T	11: 115,124,369	V132I	probably benign	Het
Cfap54	T	C	10: 93,066,846	Y148C	probably damaging	Het
Coa5	A	G	1: 37,428,347	S60P	probably damaging	Het
Col6a2	T	C	10: 76,611,049	N342D	probably damaging	Het
Cyp2c29	T	G	19: 39,330,261	I434S	possibly damaging	Het
Ddx11	G	A	17: 66,150,729		probably null	Het
Dgke	C	T	11: 89,040,749	V560I	probably benign	Het
Dusp16	C	A	6: 134,720,493		probably null	Het
Enpp4	G	T	17: 44,102,480	N54K	probably benign	Het
Erc2	A	T	14: 28,080,155	K764M	probably damaging	Het
Ercc6	G	T	14: 32,526,403	E304*	probably null	Het
Fam117a	T	A	11: 95,364,145	C115S	possibly damaging	Het
Galntl5	T	C	5: 25,186,165	S21P	probably benign	Het
Gm6358	T	C	16: 89,141,082	S70P	unknown	Het
Grip1	C	T	10: 120,075,464	Q696*	probably null	Het
Haus5	C	T	7: 30,658,976	W298*	probably null	Het
Hsfy2	T	A	1: 56,637,192	H62L	probably benign	Het
Ighm	T	C	12: 113,421,567	I258V	unknown	Het
Igkv13-71-1	G	T	6: 69,235,799		noncoding transcript	Het
Irx1	A	C	13: 71,959,668	S298R	probably damaging	Het
Jarid2	T	A	13: 44,903,063	Y443N	possibly damaging	Het
Kcnc1	G	A	7: 46,435,316	A555T	probably benign	Het
Krtap4-6	T	A	11: 99,665,419	R161*	probably null	Het
Lipo1	T	C	19: 33,780,337	D244G	probably benign	Het
Lmo2	T	G	2: 103,970,601	V39G	possibly damaging	Het
Lrch2	C	T	X: 147,480,557	A369T	probably damaging	Homo
Macf1	A	T	4: 123,432,875	I4943N	probably damaging	Het
Mkx	A	T	18: 7,000,591		probably null	Het
Nek1	C	T	8: 61,072,309	Q594*	probably null	Het
Nipbl	T	C	15: 8,300,895	M2349V	possibly damaging	Het
Nup155	T	A	15: 8,153,155	C1201S	probably damaging	Het
Olfr1249	G	A	2: 89,630,631	T89I	probably damaging	Het
Olfr1373	C	A	11: 52,144,596	R311S	probably benign	Het
Olfr209	T	C	16: 59,361,406	K271E	probably benign	Het
Osbpl1a	A	G	18: 12,819,503		probably null	Het
Pbx1	T	C	1: 168,183,615	D372G	possibly damaging	Het
Pikfyve	T	A	1: 65,262,953	S1668T	probably damaging	Het
Pitpnc1	T	C	11: 107,226,266	H193R	probably damaging	Het
Plag1	G	T	4: 3,904,499	H231N	probably damaging	Het
Prmt8	A	G	6: 127,711,804	I201T	probably damaging	Het
Ptpn23	A	T	9: 110,393,826	N54K	probably damaging	Het
Rab11fip4	T	C	11: 79,690,829		probably null	Het
Rassf9	T	A	10: 102,545,753	I332N	probably damaging	Het
Rgs9	T	C	11: 109,268,987	N173S	probably benign	Het
Rhbdl1	A	G	17: 25,834,969	L309P	probably damaging	Het
Rnf214	A	G	9: 45,867,821	S389P	probably benign	Het
Rxfp1	A	C	3: 79,667,848	L181R	probably damaging	Het
Sfxn1	C	T	13: 54,093,880	T208I	probably benign	Het
Sgo2b	C	T	8: 63,927,793	M668I	probably benign	Het
Sh3bp4	C	A	1: 89,145,489	S686R	probably damaging	Het
Spata31d1d	G	A	13: 59,728,464	T419I	possibly damaging	Het
Spink5	T	C	18: 44,014,757	S857P	probably damaging	Het
Stard13	A	T	5: 151,062,673	S339R	probably damaging	Het
Stk35	T	A	2: 129,810,888	Y436*	probably null	Het
Supt6	C	T	11: 78,226,059	R589Q	possibly damaging	Het
Tinag	T	A	9: 76,996,935	E402V	possibly damaging	Het
Tmem183a	T	C	1: 134,361,611	D27G	probably damaging	Het
Tnfrsf13c	T	C	15: 82,223,902	T56A	probably damaging	Het
Tnrc18	A	C	5: 142,733,576	L1985R	unknown	Het
Ttn	G	A	2: 76,749,329	T23740M	probably damaging	Het
Ufl1	G	T	4: 25,270,572	Q215K	probably benign	Het
Unkl	T	C	17: 25,231,865	*232R	probably null	Het
Wnk4	A	T	11: 101,273,998	N718Y	probably damaging	Het
Xkr4	T	C	1: 3,216,570	T466A	probably benign	Het
Zfp451	T	A	1: 33,769,817	K988*	probably null	Het
Zfp503	G	C	14: 21,985,800	Y349*	probably null	Het
Zfp990	T	A	4: 145,538,103	F557Y	possibly damaging	Het

Other mutations in Epn1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02227:Epn1	APN	7	5095036	missense	probably benign	0.19
IGL03126:Epn1	APN	7	5095685	missense	probably benign	0.01
epsilon	UTSW	7	5095048	missense	probably benign
R1074:Epn1	UTSW	7	5095048	missense	probably benign
R1365:Epn1	UTSW	7	5093370	missense	probably benign	0.05
R1848:Epn1	UTSW	7	5089998	missense	probably damaging	1.00
R2041:Epn1	UTSW	7	5083875	missense	probably damaging	0.99
R2237:Epn1	UTSW	7	5097602	missense	probably damaging	0.98
R2238:Epn1	UTSW	7	5097602	missense	probably damaging	0.98
R2239:Epn1	UTSW	7	5097602	missense	probably damaging	0.98
R4255:Epn1	UTSW	7	5097638	missense	probably damaging	1.00
R4324:Epn1	UTSW	7	5097211	missense	probably benign	0.07
R4542:Epn1	UTSW	7	5093981	missense	possibly damaging	0.63
R4703:Epn1	UTSW	7	5095148	missense	probably damaging	0.99
R4740:Epn1	UTSW	7	5090013	missense	probably damaging	1.00
R4845:Epn1	UTSW	7	5093909	missense	possibly damaging	0.94
R5838:Epn1	UTSW	7	5097166	nonsense	probably null
R5952:Epn1	UTSW	7	5093912	missense	probably damaging	1.00
R6251:Epn1	UTSW	7	5095926	missense	probably damaging	1.00
R6251:Epn1	UTSW	7	5095936	missense	probably damaging	1.00
R6710:Epn1	UTSW	7	5097304	missense	probably damaging	0.99
R6937:Epn1	UTSW	7	5089944	missense	probably damaging	1.00
R7196:Epn1	UTSW	7	5093381	missense	possibly damaging	0.68
R7420:Epn1	UTSW	7	5097688	missense	possibly damaging	0.77
R7948:Epn1	UTSW	7	5089993	nonsense	probably null
R8766:Epn1	UTSW	7	5092861	missense	possibly damaging	0.63
R8843:Epn1	UTSW	7	5093376	missense	probably benign	0.36
R9059:Epn1	UTSW	7	5095068	missense	probably benign	0.00
R9315:Epn1	UTSW	7	5093340	missense	probably benign
R9376:Epn1	UTSW	7	5083721	unclassified	probably benign
R9432:Epn1	UTSW	7	5093370	missense	probably benign	0.22
X0065:Epn1	UTSW	7	5095093	missense	probably benign	0.02

Predicted Primers

PCR Primer
(F):5'- GAGTACCTCATCAAGACTGGCTC -3'
(R):5'- CACACTTGGGTCCAAAGGAG -3'

Sequencing Primer
(F):5'- CTCTGAGCGTGTATCACAACAGTG -3'
(R):5'- TTGGGTCCAAAGGAGGCATTCTAC -3'

Posted On

2018-04-02