Incidental Mutation 'R7196:Epn1'
ID 559921
Institutional Source Beutler Lab
Gene Symbol Epn1
Ensembl Gene ENSMUSG00000035203
Gene Name epsin 1
Synonyms Ibp1
MMRRC Submission 045275-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R7196 (G1)
Quality Score 225.009
Status Validated
Chromosome 7
Chromosomal Location 5083234-5101177 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 5096380 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Asparagine at position 225 (D225N)
Ref Sequence ENSEMBL: ENSMUSP00000096445 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000045277] [ENSMUST00000098845] [ENSMUST00000146317] [ENSMUST00000208634]
AlphaFold Q80VP1
Predicted Effect possibly damaging
Transcript: ENSMUST00000045277
AA Change: D225N

PolyPhen 2 Score 0.675 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000043340
Gene: ENSMUSG00000035203
AA Change: D225N

DomainStartEndE-ValueType
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 possibly damaging
Transcript: ENSMUST00000098845
AA Change: D225N

PolyPhen 2 Score 0.675 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000096445
Gene: ENSMUSG00000035203
AA Change: D225N

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
Pfam:ENTH 17 90 7.4e-36 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000208634
AA Change: D225N

PolyPhen 2 Score 0.821 (Sensitivity: 0.84; Specificity: 0.93)
Meta Mutation Damage Score 0.0928 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.5%
Validation Efficiency 99% (94/95)
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: 92 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700017B05Rik AGCTTCCCTGCTT AGCTT 9: 57,165,505 (GRCm39) probably null Het
4921504E06Rik A C 2: 19,498,806 (GRCm39) S396A probably benign Het
Actr6 C A 10: 89,550,784 (GRCm39) V337F possibly damaging Het
Agtpbp1 T C 13: 59,680,994 (GRCm39) T73A possibly damaging Het
AI182371 A T 2: 34,976,441 (GRCm39) probably null Het
Apob A G 12: 8,033,893 (GRCm39) E202G possibly damaging Het
Asb4 A T 6: 5,423,356 (GRCm39) M168L probably benign Het
AU018091 T C 7: 3,213,788 (GRCm39) Y152C probably damaging Het
Casp3 G A 8: 47,088,498 (GRCm39) G132R possibly damaging Het
Cbfa2t3 C A 8: 123,365,729 (GRCm39) A229S probably benign Het
Cdh23 A T 10: 60,143,759 (GRCm39) Y2949N probably damaging Het
Ceacam3 T C 7: 16,888,881 (GRCm39) Y217H Het
Cldn5 A T 16: 18,595,630 (GRCm39) probably benign Het
Cltc T C 11: 86,597,657 (GRCm39) D1093G probably damaging Het
Cnn3 G A 3: 121,248,437 (GRCm39) probably null Het
Col4a2 A G 8: 11,448,693 (GRCm39) Y71C probably damaging Het
Csf1 T C 3: 107,661,214 (GRCm39) D77G possibly damaging Het
Cyp2j7 T A 4: 96,103,651 (GRCm39) T295S probably benign Het
Dnah7a A T 1: 53,724,000 (GRCm39) M133K probably benign Het
Dock5 G A 14: 67,993,919 (GRCm39) P1852L probably damaging Het
Dpysl3 T A 18: 43,462,910 (GRCm39) D489V probably damaging Het
Dsg4 T C 18: 20,599,537 (GRCm39) Y718H probably damaging Het
Dync2h1 G A 9: 7,147,715 (GRCm39) Q972* probably null Het
Esp4 A G 17: 40,913,256 (GRCm39) E41G probably benign Het
Fam171a2 T C 11: 102,329,172 (GRCm39) D529G probably benign Het
Fbxl13 A T 5: 21,691,301 (GRCm39) I694N probably damaging Het
Fshr C T 17: 89,292,897 (GRCm39) A594T probably damaging Het
Galnt3 A G 2: 65,921,268 (GRCm39) Y533H probably damaging Het
Gja5 C A 3: 96,958,422 (GRCm39) R160S probably damaging Het
Gm12353 A T 4: 19,608,938 (GRCm39) D7V unknown Het
Gm17669 T C 18: 67,695,572 (GRCm39) F39S probably damaging Het
Gm7145 T A 1: 117,913,791 (GRCm39) N224K possibly damaging Het
Gpd1 G T 15: 99,619,936 (GRCm39) G245C probably benign Het
Gpr4 G A 7: 18,957,089 (GRCm39) G337D probably benign Het
Hgd G A 16: 37,409,078 (GRCm39) C14Y probably benign Het
Ibtk A T 9: 85,625,709 (GRCm39) S14T probably damaging Het
Ifi205 G T 1: 173,854,109 (GRCm39) N181K probably damaging Het
Inppl1 G A 7: 101,477,993 (GRCm39) A673V probably benign Het
Itgb3 C A 11: 104,524,438 (GRCm39) Y191* probably null Het
Jrkl G T 9: 13,244,162 (GRCm39) P500T probably benign Het
Kcnq1 G A 7: 142,912,478 (GRCm39) V515I possibly damaging Het
Kifc3 A G 8: 95,833,239 (GRCm39) V453A probably benign Het
Krt10 C T 11: 99,278,371 (GRCm39) E263K probably damaging Het
Lingo1 A T 9: 56,527,903 (GRCm39) F235I probably damaging Het
Lmo7 T A 14: 102,133,936 (GRCm39) D660E possibly damaging Het
Magi3 A C 3: 103,956,484 (GRCm39) C661W probably benign Het
Mmp1a C T 9: 7,476,018 (GRCm39) Q428* probably null Het
Msrb1 A T 17: 24,958,556 (GRCm39) T47S probably benign Het
Naip6 A T 13: 100,436,666 (GRCm39) I619K probably benign Het
Ndfip2 T C 14: 105,535,472 (GRCm39) S253P probably damaging Het
Nebl A T 2: 17,457,329 (GRCm39) V77E probably damaging Het
Nit1 T C 1: 171,172,003 (GRCm39) E65G probably benign Het
Ntn4 C T 10: 93,569,576 (GRCm39) H430Y probably benign Het
Nxpe5 A T 5: 138,237,586 (GRCm39) I49F probably benign Het
Or10a2 A G 7: 106,673,935 (GRCm39) N300S probably benign Het
Or10c1 A G 17: 37,522,084 (GRCm39) I220T probably damaging Het
Or14c46 A T 7: 85,918,649 (GRCm39) M116K probably damaging Het
Or1e23 A G 11: 73,407,957 (GRCm39) Y23H probably benign Het
Or1m1 A T 9: 18,666,886 (GRCm39) L15* probably null Het
Or4k49 T G 2: 111,495,042 (GRCm39) L157W probably damaging Het
Or52s6 A T 7: 103,092,204 (GRCm39) M42K probably benign Het
Or7e178 A G 9: 20,225,494 (GRCm39) Y241H probably benign Het
Oxct2a T A 4: 123,217,165 (GRCm39) N72I probably damaging Het
Pappa G A 4: 65,242,128 (GRCm39) probably null Het
Pcnx1 G A 12: 82,042,312 (GRCm39) R34H possibly damaging Het
Plekha5 G T 6: 140,489,648 (GRCm39) V236L possibly damaging Het
Prdm1 A G 10: 44,332,988 (GRCm39) S44P probably benign Het
Prss46 T A 9: 110,680,533 (GRCm39) L226Q probably benign Het
Prss47 C A 13: 65,192,640 (GRCm39) W380C probably benign Het
Ptch2 T G 4: 116,971,946 (GRCm39) V1156G probably benign Het
Rab3gap2 T C 1: 185,013,864 (GRCm39) F1190S probably damaging Het
Raver2 T G 4: 100,960,056 (GRCm39) Y179D probably damaging Het
Rgl2 C T 17: 34,152,403 (GRCm39) R367W probably damaging Het
Ripor2 T G 13: 24,888,808 (GRCm39) I629S possibly damaging Het
Robo4 T A 9: 37,314,001 (GRCm39) M84K possibly damaging Het
Rps6ka5 A T 12: 100,562,123 (GRCm39) S252T possibly damaging Het
Rtl1 C T 12: 109,559,221 (GRCm39) V873M possibly damaging Het
Sla T A 15: 66,703,420 (GRCm39) R4W probably benign Het
Smco1 A G 16: 32,092,620 (GRCm39) D97G probably damaging Het
Srgap1 T C 10: 121,676,753 (GRCm39) T414A probably benign Het
Syt14 A G 1: 192,717,936 (GRCm39) I3T probably benign Het
Tnpo2 G A 8: 85,773,766 (GRCm39) V303M possibly damaging Het
Tstd2 A C 4: 46,119,955 (GRCm39) S332R probably damaging Het
Ttn C A 2: 76,582,386 (GRCm39) A22836S possibly damaging Het
Ufl1 A G 4: 25,250,669 (GRCm39) V728A probably benign Het
Usp33 A T 3: 152,089,828 (GRCm39) K789N possibly damaging Het
Usp54 T A 14: 20,638,438 (GRCm39) Q214L probably damaging Het
Vmn2r7 T G 3: 64,623,198 (GRCm39) N374T probably benign Het
Zbtb7a T A 10: 80,980,434 (GRCm39) N209K probably damaging Het
Zc3hav1 A G 6: 38,306,207 (GRCm39) V615A probably benign Het
Zdhhc20 A G 14: 58,111,348 (GRCm39) probably null Het
Zfp90 G T 8: 107,151,780 (GRCm39) V498L probably damaging Het
Other mutations in Epn1
AlleleSourceChrCoordTypePredicted EffectPPH 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
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'- TTAGGCATGCAGCTTCCTTC -3'
(R):5'- ATGACCTAGTGATACTTGTACCCC -3'

Sequencing Primer
(F):5'- CATCTTTATCGGTCTGGGAGAACC -3'
(R):5'- AGTGATACTTGTACCCCCAGGTC -3'
Posted On 2019-06-26