Incidental Mutation 'IGL03126:Epn1'
ID410149
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Epn1
Ensembl Gene ENSMUSG00000035203
Gene Nameepsin 1
SynonymsIbp1
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL03126
Quality Score
Status
Chromosome7
Chromosomal Location5080235-5098178 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to A at 5095685 bp
ZygosityHeterozygous
Amino Acid Change Alanine to Glutamic Acid at position 370 (A370E)
Ref Sequence ENSEMBL: ENSMUSP00000146638 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000045277] [ENSMUST00000098845] [ENSMUST00000208634]
Predicted Effect probably benign
Transcript: ENSMUST00000045277
AA Change: A370E

PolyPhen 2 Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)
SMART Domains Protein: ENSMUSP00000043340
Gene: ENSMUSG00000035203
AA Change: A370E

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: ENSMUST00000098845
AA Change: A370E

PolyPhen 2 Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)
SMART Domains Protein: ENSMUSP00000096445
Gene: ENSMUSG00000035203
AA Change: A370E

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 noncoding transcript
Transcript: ENSMUST00000152083
Predicted Effect noncoding transcript
Transcript: ENSMUST00000155436
Predicted Effect probably benign
Transcript: ENSMUST00000208634
AA Change: A370E

PolyPhen 2 Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)
Coding Region Coverage
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: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4833420G17Rik A G 13: 119,481,027 N562S probably benign Het
4930402H24Rik A T 2: 130,791,995 probably null Het
Abi1 A G 2: 22,953,467 V316A probably benign Het
Acsm1 A T 7: 119,633,180 Q100L possibly damaging Het
Akr1c21 T C 13: 4,577,458 Y184H possibly damaging Het
Anks3 T C 16: 4,958,027 T104A probably damaging Het
Bcl2l2 A G 14: 54,884,767 Y129C probably damaging Het
Cenpf T A 1: 189,659,010 K875I probably damaging Het
Cntnap1 T C 11: 101,176,301 V15A probably benign Het
Elmo3 C A 8: 105,306,381 R66S probably damaging Het
Esrrg T C 1: 187,997,987 probably benign Het
Fam129b C T 2: 32,876,386 R13W possibly damaging Het
Fgd5 T G 6: 92,065,164 L1034R probably damaging Het
Fpgs A G 2: 32,683,123 V567A possibly damaging Het
Fut2 C T 7: 45,650,769 G193E possibly damaging Het
Hist1h3c T C 13: 23,745,442 K19R possibly damaging Het
Hsd17b14 T C 7: 45,556,079 F38S possibly damaging Het
Ikbkap A G 4: 56,779,717 S565P probably benign Het
Larp1 T C 11: 58,050,877 V712A possibly damaging Het
Mep1b T C 18: 21,088,560 F189S probably damaging Het
Mill1 T C 7: 18,255,907 V38A probably benign Het
Npy4r T C 14: 34,146,333 I333V probably benign Het
Numa1 G T 7: 102,000,667 E1202* probably null Het
Olfr231 A G 1: 174,117,710 I102T probably benign Het
Olfr401 C T 11: 74,121,784 A165V probably benign Het
Oxr1 A T 15: 41,820,249 Q356L possibly damaging Het
Prdx2 T C 8: 84,971,569 F130L probably damaging Het
Rasa1 A T 13: 85,256,396 S248R possibly damaging Het
Rgs19 A G 2: 181,691,321 S49P probably benign Het
Rinl A G 7: 28,795,650 probably benign Het
Serpinb11 T C 1: 107,379,924 F362L probably damaging Het
Slamf8 T C 1: 172,584,169 H253R possibly damaging Het
Tet3 C A 6: 83,376,787 R829L probably damaging Het
Trappc8 A G 18: 20,863,595 L420P probably damaging Het
Ube2u A T 4: 100,550,002 *353Y probably null Het
Wbp1l A C 19: 46,644,399 D46A probably damaging Het
Zbtb21 A G 16: 97,951,745 V474A probably damaging Het
Other mutations in Epn1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02227:Epn1 APN 7 5095036 missense probably benign 0.19
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
R6296:Epn1 UTSW 7 5090123 missense probably damaging 0.98
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
X0065:Epn1 UTSW 7 5095093 missense probably benign 0.02
Posted On2016-08-02