Incidental Mutation 'R4553:Epgn'
ID 341773
Institutional Source Beutler Lab
Gene Symbol Epgn
Ensembl Gene ENSMUSG00000035020
Gene Name epithelial mitogen
Synonyms epigen, 2310069M11Rik
MMRRC Submission 041595-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R4553 (G1)
Quality Score 225
Status Not validated
Chromosome 5
Chromosomal Location 91175376-91183071 bp(+) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) A to T at 91175421 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Lysine to Stop codon at position 14 (K14*)
Ref Sequence ENSEMBL: ENSMUSP00000046987 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000041516] [ENSMUST00000202724]
AlphaFold Q924X1
Predicted Effect probably null
Transcript: ENSMUST00000041516
AA Change: K14*
SMART Domains Protein: ENSMUSP00000046987
Gene: ENSMUSG00000035020
AA Change: K14*

DomainStartEndE-ValueType
signal peptide 1 18 N/A INTRINSIC
EGF 58 95 1.01e-1 SMART
transmembrane domain 110 132 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000202724
SMART Domains Protein: ENSMUSP00000144500
Gene: ENSMUSG00000035020

DomainStartEndE-ValueType
EGF 43 80 5.1e-4 SMART
transmembrane domain 95 117 N/A INTRINSIC
Meta Mutation Damage Score 0.9755 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.4%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a member of the epidermal growth factor family. Members of this family are ligands for the epidermal growth factor receptor and play a role in cell survival, proliferation and migration. This protein has been reported to have high mitogenic activity but low affinity for its receptor. Expression of this transcript and protein have been reported in cancer specimens of the breast, bladder, and prostate. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2012]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit moderate increase in absolute pancreas and spleen weight but normal epidermis and pilosebaceous unit development. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 33 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1500011B03Rik T C 5: 114,951,254 (GRCm39) Y49C probably damaging Het
Adat1 T C 8: 112,716,912 (GRCm39) T32A probably damaging Het
Adra2a T C 19: 54,035,166 (GRCm39) V174A possibly damaging Het
Armcx5 T A X: 134,647,256 (GRCm39) V444D probably damaging Het
Cand2 C A 6: 115,769,172 (GRCm39) R661S probably damaging Het
Cd274 T C 19: 29,357,848 (GRCm39) V180A probably benign Het
Crat T C 2: 30,298,229 (GRCm39) T157A probably benign Het
Cts6 G A 13: 61,345,407 (GRCm39) P230L probably damaging Het
Dppa2 A G 16: 48,130,877 (GRCm39) Y3C possibly damaging Het
Garin1a A G 6: 29,287,705 (GRCm39) I210M probably benign Het
Gsap A T 5: 21,495,569 (GRCm39) D79V probably damaging Het
Hgfac T A 5: 35,200,200 (GRCm39) C130S probably damaging Het
Ifi35 T C 11: 101,348,717 (GRCm39) V188A probably damaging Het
Iqsec2 A G X: 150,994,277 (GRCm39) H585R probably benign Het
Itih4 T C 14: 30,622,910 (GRCm39) L842P probably damaging Het
Kif3a C A 11: 53,469,745 (GRCm39) L119I possibly damaging Het
Lrp2 T C 2: 69,343,629 (GRCm39) D910G probably benign Het
Lyve1 T C 7: 110,451,567 (GRCm39) probably null Het
Mtss2 A G 8: 111,465,137 (GRCm39) T464A probably damaging Het
Mx2 A G 16: 97,353,205 (GRCm39) T398A possibly damaging Het
Nlrp4e T C 7: 23,020,404 (GRCm39) M297T probably benign Het
Nog A G 11: 89,192,248 (GRCm39) L200P probably damaging Het
Obscn T C 11: 59,022,472 (GRCm39) R758G possibly damaging Het
Papolb T C 5: 142,514,933 (GRCm39) I237V probably benign Het
Phf11b G A 14: 59,578,734 (GRCm39) P11S probably benign Het
Plcb1 T C 2: 135,177,413 (GRCm39) S582P probably benign Het
Pld1 G T 3: 28,178,851 (GRCm39) R915L probably benign Het
Sell C T 1: 163,899,685 (GRCm39) T34I probably benign Het
Slc34a1 G A 13: 55,559,874 (GRCm39) probably null Het
Slc8b1 T C 5: 120,667,663 (GRCm39) V432A probably damaging Het
Tipin T A 9: 64,195,385 (GRCm39) probably null Het
Vmn1r117 A T 7: 20,617,517 (GRCm39) F177Y probably damaging Het
Xab2 T C 8: 3,661,015 (GRCm39) T700A probably benign Het
Other mutations in Epgn
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02090:Epgn APN 5 91,181,816 (GRCm39) missense probably damaging 0.99
R0309:Epgn UTSW 5 91,180,073 (GRCm39) missense probably benign 0.06
R0478:Epgn UTSW 5 91,178,987 (GRCm39) missense probably benign 0.00
R1034:Epgn UTSW 5 91,180,080 (GRCm39) missense probably damaging 1.00
R4551:Epgn UTSW 5 91,175,421 (GRCm39) nonsense probably null
R4552:Epgn UTSW 5 91,175,421 (GRCm39) nonsense probably null
R4997:Epgn UTSW 5 91,180,098 (GRCm39) missense possibly damaging 0.58
R5177:Epgn UTSW 5 91,176,136 (GRCm39) start gained probably benign
R5754:Epgn UTSW 5 91,181,807 (GRCm39) missense probably benign 0.09
R5881:Epgn UTSW 5 91,176,222 (GRCm39) missense probably benign 0.06
Predicted Primers PCR Primer
(F):5'- TTGGATTGGTAAGAACAGCCAG -3'
(R):5'- ACACTTCAGGCTTCTTTGAGAGAG -3'

Sequencing Primer
(F):5'- GAACAGCCAGATGACGCTTCG -3'
(R):5'- TCAGGCTTCTTTGAGAGAGAGAAAAG -3'
Posted On 2015-09-24