Incidental Mutation 'R4552:Epgn'
ID 334002
Institutional Source Beutler Lab
Gene Symbol Epgn
Ensembl Gene ENSMUSG00000035020
Gene Name epithelial mitogen
Synonyms epigen, 2310069M11Rik
MMRRC Submission 041783-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R4552 (G1)
Quality Score 225
Status 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: 99.1%
  • 3x: 98.5%
  • 10x: 96.9%
  • 20x: 94.4%
Validation Efficiency 97% (62/64)
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: 53 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts16 G A 13: 70,927,637 (GRCm39) probably benign Het
Arhgap33 A T 7: 30,218,533 (GRCm39) probably benign Het
Arid1a A C 4: 133,423,010 (GRCm39) probably benign Het
C4bp A G 1: 130,564,464 (GRCm39) Y407H possibly damaging Het
Camta1 T C 4: 151,876,959 (GRCm39) R79G probably damaging Het
Caskin1 G A 17: 24,725,602 (GRCm39) S1296N probably benign Het
Cep128 T C 12: 91,260,936 (GRCm39) E309G probably damaging Het
Chit1 A G 1: 134,071,789 (GRCm39) T100A probably benign Het
Dalrd3 A G 9: 108,449,429 (GRCm39) D454G possibly damaging Het
Ddx19a G A 8: 111,705,198 (GRCm39) Q308* probably null Het
Dmxl2 T C 9: 54,359,047 (GRCm39) N395S probably damaging Het
Dnah17 T C 11: 117,943,769 (GRCm39) D3125G possibly damaging Het
Dnah5 T C 15: 28,397,300 (GRCm39) V3331A probably benign Het
Dnah9 T C 11: 65,732,192 (GRCm39) E4238G probably damaging Het
Dner T C 1: 84,361,578 (GRCm39) Y677C probably damaging Het
Hid1 G A 11: 115,249,505 (GRCm39) T240M possibly damaging Het
Igbp1b T A 6: 138,635,112 (GRCm39) M111L probably benign Het
Kif26b T A 1: 178,711,600 (GRCm39) I740N probably damaging Het
Klk4 C A 7: 43,533,443 (GRCm39) H101N probably benign Het
Mrgpra2b C A 7: 47,113,754 (GRCm39) S300I probably benign Het
Mtss2 A G 8: 111,465,137 (GRCm39) T464A probably damaging Het
Nbas T C 12: 13,385,938 (GRCm39) probably null Het
Nif3l1 C T 1: 58,488,483 (GRCm39) probably benign Het
Noct T A 3: 51,157,589 (GRCm39) I309N probably benign Het
Obscn T C 11: 59,022,472 (GRCm39) R758G possibly damaging Het
Odf2l A T 3: 144,856,844 (GRCm39) T600S probably benign Het
Odf4 C T 11: 68,812,866 (GRCm39) S264N probably benign Het
Or13a17 A T 7: 140,271,655 (GRCm39) Y279F probably damaging Het
Or1m1 A G 9: 18,666,430 (GRCm39) V167A possibly damaging Het
Or2y1e A T 11: 49,218,777 (GRCm39) M180L probably benign Het
Or6c217 T C 10: 129,737,992 (GRCm39) M196V probably benign Het
Papolb T C 5: 142,514,933 (GRCm39) I237V probably benign Het
Parpbp T A 10: 87,929,564 (GRCm39) Q428L possibly damaging Het
Pclo T C 5: 14,719,285 (GRCm39) S1141P unknown Het
Plcb1 T C 2: 135,177,413 (GRCm39) S582P probably benign Het
Ppargc1a C T 5: 51,620,557 (GRCm39) probably benign Het
Ptchd4 A T 17: 42,813,346 (GRCm39) I416L probably benign Het
Rhpn1 G A 15: 75,585,968 (GRCm39) R627H probably benign Het
Ric8a G A 7: 140,441,250 (GRCm39) G182S probably damaging Het
Rims1 T C 1: 22,443,718 (GRCm39) D895G probably damaging Het
Rrp1b G A 17: 32,274,984 (GRCm39) probably benign Het
Rtf1 T A 2: 119,561,210 (GRCm39) D636E probably benign Het
Scn3a T C 2: 65,354,523 (GRCm39) D333G probably benign Het
Sema6a A G 18: 47,424,990 (GRCm39) L207P probably damaging Het
Shcbp1 A T 8: 4,799,779 (GRCm39) Y160* probably null Het
Slc27a1 A T 8: 72,032,710 (GRCm39) probably null Het
Ston2 C T 12: 91,608,646 (GRCm39) R818Q probably damaging Het
Tipin T A 9: 64,195,385 (GRCm39) probably null Het
Tjap1 A T 17: 46,570,953 (GRCm39) probably null Het
Vmn1r117 A T 7: 20,617,517 (GRCm39) F177Y probably damaging Het
Vmn1r57 A G 7: 5,223,667 (GRCm39) D64G possibly damaging Het
Vmn2r73 T A 7: 85,525,055 (GRCm39) D31V probably benign Het
Vmn2r-ps41 A T 7: 9,180,063 (GRCm39) noncoding transcript 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
R4553: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'- ACACTTCAGGCTTCTTTGAGAG -3'

Sequencing Primer
(F):5'- GAACAGCCAGATGACGCTTCG -3'
(R):5'- TCAGGCTTCTTTGAGAGAGAGAAAAG -3'
Posted On 2015-08-18