Incidental Mutation 'R7420:Epn1'
ID 575598
Institutional Source Beutler Lab
Gene Symbol Epn1
Ensembl Gene ENSMUSG00000035203
Gene Name epsin 1
Synonyms Ibp1
MMRRC Submission 045498-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R7420 (G1)
Quality Score 225.009
Status Not validated
Chromosome 7
Chromosomal Location 5083234-5101177 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 5100687 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Serine at position 546 (T546S)
Ref Sequence ENSEMBL: ENSMUSP00000096445 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000045277] [ENSMUST00000098845] [ENSMUST00000208634]
AlphaFold Q80VP1
Predicted Effect possibly damaging
Transcript: ENSMUST00000045277
AA Change: T546S

PolyPhen 2 Score 0.767 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000043340
Gene: ENSMUSG00000035203
AA Change: T546S

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: T546S

PolyPhen 2 Score 0.767 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000096445
Gene: ENSMUSG00000035203
AA Change: T546S

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: ENSMUST00000208634
AA Change: T547S

PolyPhen 2 Score 0.851 (Sensitivity: 0.83; Specificity: 0.93)
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.7%
Validation Efficiency 95% (54/57)
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: 56 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca6 A G 11: 110,141,303 (GRCm39) V6A probably benign Het
Adam29 T A 8: 56,325,933 (GRCm39) M174L probably benign Het
Ano1 G A 7: 144,209,378 (GRCm39) T274I probably benign Het
Atad5 A T 11: 79,986,688 (GRCm39) T592S probably benign Het
Bud13 C T 9: 46,199,113 (GRCm39) P158L probably benign Het
Card19 T C 13: 49,361,613 (GRCm39) Y6C probably damaging Het
Cd36 C G 5: 17,993,272 (GRCm39) V393L probably benign Het
Cd79a A T 7: 24,596,971 (GRCm39) R9* probably null Het
Cep164 T C 9: 45,679,840 (GRCm39) H1131R probably benign Het
Chia1 T A 3: 106,037,980 (GRCm39) S321T probably benign Het
Chrnd T A 1: 87,122,543 (GRCm39) V217E possibly damaging Het
Cmtm7 T C 9: 114,592,462 (GRCm39) probably null Het
Csn1s2a T C 5: 87,927,865 (GRCm39) S60P possibly damaging Het
Defa30 T A 8: 21,625,471 (GRCm39) N78K probably benign Het
Dnah2 C T 11: 69,369,623 (GRCm39) A1618T possibly damaging Het
Dnah9 A G 11: 66,008,233 (GRCm39) probably null Het
Fam135a A G 1: 24,051,567 (GRCm39) S1443P possibly damaging Het
Fam13b G T 18: 34,627,664 (GRCm39) P179Q probably damaging Het
Git2 T C 5: 114,868,431 (GRCm39) T647A probably benign Het
Gli2 T C 1: 118,763,669 (GRCm39) N1494S probably benign Het
Gm4952 G A 19: 12,604,265 (GRCm39) G226R probably damaging Het
Gm5460 T A 14: 33,758,714 (GRCm39) F156I probably damaging Het
Heatr5b A T 17: 79,115,909 (GRCm39) V849D probably damaging Het
Hepacam A G 9: 37,292,005 (GRCm39) D111G probably benign Het
Hk1 T C 10: 62,105,761 (GRCm39) D895G probably damaging Het
Irag1 A T 7: 110,470,680 (GRCm39) Y678* probably null Het
Kdm5b T C 1: 134,532,235 (GRCm39) V471A probably benign Het
Klhdc8b A G 9: 108,326,317 (GRCm39) Y239H possibly damaging Het
Krt15 A T 11: 100,026,386 (GRCm39) V100E possibly damaging Het
Krt82 T C 15: 101,454,022 (GRCm39) T229A probably damaging Het
Lrrc37 A T 11: 103,504,451 (GRCm39) S2506T probably benign Het
Lztr1 T C 16: 17,341,993 (GRCm39) L656P probably damaging Het
Mfrp T C 9: 44,013,773 (GRCm39) probably benign Het
Nfe2l1 A G 11: 96,710,739 (GRCm39) S497P probably benign Het
Or2ag1b G A 7: 106,288,227 (GRCm39) A237V possibly damaging Het
Or8b44 G T 9: 38,410,359 (GRCm39) L131F probably benign Het
Otud4 C A 8: 80,390,737 (GRCm39) T418K probably benign Het
Pcdhb21 A G 18: 37,648,256 (GRCm39) N462D probably damaging Het
Plch1 A G 3: 63,630,278 (GRCm39) S497P probably damaging Het
Plekha8 T C 6: 54,590,179 (GRCm39) V48A probably damaging Het
Ppp2r5d A T 17: 46,998,507 (GRCm39) F121L probably null Het
Prxl2c C T 13: 64,445,131 (GRCm39) G164D possibly damaging Het
Sdad1 G A 5: 92,453,596 (GRCm39) A64V possibly damaging Het
Selenop G T 15: 3,309,052 (GRCm39) A335S probably damaging Het
Shc3 T C 13: 51,585,271 (GRCm39) N448S probably benign Het
Shcbp1 G A 8: 4,798,737 (GRCm39) T394I probably benign Het
Slc39a11 G T 11: 113,138,648 (GRCm39) A276E probably damaging Het
Son AGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCG AGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCG 16: 91,457,222 (GRCm39) probably benign Het
Speg T A 1: 75,407,549 (GRCm39) S3185R probably damaging Het
Tmem100 A T 11: 89,926,579 (GRCm39) *135Y probably null Het
Ube2o A T 11: 116,430,898 (GRCm39) F1001I probably damaging Het
Usp7 T C 16: 8,527,985 (GRCm39) D148G probably benign Het
Vmn2r16 A G 5: 109,511,736 (GRCm39) T648A probably damaging Het
Vmn2r67 A G 7: 84,785,944 (GRCm39) L687P possibly damaging Het
Zcchc14 ACCGCCGCCGCCGCCGCC ACCGCCGCCGCCGCC 8: 122,378,530 (GRCm39) probably benign Het
Zfp800 A G 6: 28,243,718 (GRCm39) S416P probably benign 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
R7196:Epn1 UTSW 7 5,096,380 (GRCm39) missense possibly damaging 0.68
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'- TCTTCTGTGGTCCCTACAGG -3'
(R):5'- TGCACTCACAATACTGATCTCC -3'

Sequencing Primer
(F):5'- ACCTGGGTGTGTATCCAAGAC -3'
(R):5'- TCACAATACTGATCTCCCAGGG -3'
Posted On 2019-10-07