Incidental Mutation 'R4551:Epgn'
ID 333946
Institutional Source Beutler Lab
Gene Symbol Epgn
Ensembl Gene ENSMUSG00000035020
Gene Name epithelial mitogen
Synonyms epigen, 2310069M11Rik
MMRRC Submission 041782-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R4551 (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: 99.2%
  • 3x: 98.5%
  • 10x: 97.0%
  • 20x: 94.5%
Validation Efficiency 100% (71/71)
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: 62 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aatk T G 11: 119,902,395 (GRCm39) E610A probably benign Het
Abhd17b T C 19: 21,658,290 (GRCm39) S176P possibly damaging Het
Adgrg7 A G 16: 56,568,375 (GRCm39) Y427H probably damaging Het
Alox15 T A 11: 70,235,422 (GRCm39) I647L probably benign Het
Ankhd1 C A 18: 36,788,560 (GRCm39) probably null Het
Arid1a A C 4: 133,423,010 (GRCm39) probably benign Het
Armcx5 T A X: 134,647,256 (GRCm39) V444D probably damaging Het
C4bp A G 1: 130,564,464 (GRCm39) Y407H possibly damaging Het
Cog6 T A 3: 52,905,741 (GRCm39) E96V probably damaging Het
Cox20 A C 1: 178,150,114 (GRCm39) N96T probably benign Het
Cpa3 T C 3: 20,273,934 (GRCm39) I351V probably benign Het
Cpd C T 11: 76,702,712 (GRCm39) G552D probably damaging Het
Cyld A G 8: 89,433,762 (GRCm39) K184E possibly damaging Het
Dab2 G A 15: 6,464,775 (GRCm39) G324D probably damaging Het
Depdc1a T A 3: 159,228,221 (GRCm39) D324E probably damaging Het
Dnah9 T C 11: 65,732,192 (GRCm39) E4238G probably damaging Het
Dync1i1 T A 6: 5,923,206 (GRCm39) D275E probably benign Het
Farp2 T A 1: 93,546,314 (GRCm39) L868Q possibly damaging Het
Gpr45 A G 1: 43,071,950 (GRCm39) T198A probably benign Het
Grk2 C T 19: 4,336,084 (GRCm39) V402M possibly damaging Het
Gsap A T 5: 21,495,569 (GRCm39) D79V probably damaging Het
Gtf2h3 A G 5: 124,728,482 (GRCm39) probably benign Het
Hus1b C A 13: 31,131,059 (GRCm39) S200I probably damaging Het
Hypk A G 2: 121,283,961 (GRCm39) probably null Het
Ikbke T C 1: 131,185,770 (GRCm39) probably benign Het
Kat6b A G 14: 21,711,516 (GRCm39) E670G probably damaging Het
Kif26b T A 1: 178,711,600 (GRCm39) I740N probably damaging Het
Lhx3 G A 2: 26,091,202 (GRCm39) P369L probably damaging Het
Man2c1 T C 9: 57,038,445 (GRCm39) L35P probably damaging Het
Mical2 T A 7: 111,981,123 (GRCm39) S366T possibly damaging Het
Mroh9 A T 1: 162,871,662 (GRCm39) I607N probably damaging Het
Mybphl T C 3: 108,281,479 (GRCm39) I65T possibly damaging Het
Myo1g A G 11: 6,467,874 (GRCm39) I187T probably damaging Het
Myo7b T C 18: 32,118,161 (GRCm39) S822G probably benign Het
Nkx2-4 C A 2: 146,926,842 (GRCm39) A142S probably benign Het
Obscn T C 11: 59,022,472 (GRCm39) R758G possibly damaging Het
Odf4 C T 11: 68,812,866 (GRCm39) S264N probably benign Het
Or12k7 G T 2: 36,958,355 (GRCm39) V13L probably benign Het
Or13a17 A T 7: 140,271,655 (GRCm39) Y279F probably damaging Het
Or56b1 A T 7: 104,285,631 (GRCm39) H250L probably damaging 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
Pcdhb16 T C 18: 37,612,887 (GRCm39) F616L probably damaging Het
Pdk3 A T X: 92,825,846 (GRCm39) M253K probably damaging Het
Pgap2 C A 7: 101,875,674 (GRCm39) probably benign Het
Pkhd1l1 C A 15: 44,414,281 (GRCm39) N2849K probably damaging Het
Pprc1 A G 19: 46,055,664 (GRCm39) probably benign Het
Psma2 A G 13: 14,791,430 (GRCm39) Y25C possibly damaging Het
Ptgir A G 7: 16,640,794 (GRCm39) M29V possibly damaging Het
Ptpn5 C A 7: 46,740,600 (GRCm39) probably benign Het
Pxn G T 5: 115,690,779 (GRCm39) probably benign Het
Scd3 C A 19: 44,203,878 (GRCm39) A22E probably benign Het
Sdr42e1 T C 8: 118,390,347 (GRCm39) E98G probably benign Het
Slc14a2 A C 18: 78,239,068 (GRCm39) S184A probably benign Het
Tmem236 A T 2: 14,223,964 (GRCm39) Q251L probably benign Het
Trappc8 T C 18: 21,007,729 (GRCm39) T129A probably benign Het
Vmn1r90 A C 7: 14,295,894 (GRCm39) M68R possibly damaging Het
Vmn2r105 A G 17: 20,446,613 (GRCm39) V462A probably benign Het
Vmn2r7 T C 3: 64,598,110 (GRCm39) T816A possibly damaging Het
Vmn2r81 T A 10: 79,104,241 (GRCm39) I288K possibly damaging Het
Zfp180 A C 7: 23,803,998 (GRCm39) K139T possibly damaging Het
Zfp932 T C 5: 110,157,505 (GRCm39) V401A 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
R4552: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'- ACACTTCAGGCTTCTTTGAGAGAG -3'

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