Incidental Mutation 'IGL02090:Epgn'
ID 279401
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Epgn
Ensembl Gene ENSMUSG00000035020
Gene Name epithelial mitogen
Synonyms epigen, 2310069M11Rik
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL02090
Quality Score
Status
Chromosome 5
Chromosomal Location 91175376-91183071 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 91181816 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glycine to Glutamic Acid at position 133 (G133E)
Ref Sequence ENSEMBL: ENSMUSP00000144500 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000041516] [ENSMUST00000202724]
AlphaFold Q924X1
Predicted Effect probably damaging
Transcript: ENSMUST00000041516
AA Change: G148E

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000046987
Gene: ENSMUSG00000035020
AA Change: G148E

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 damaging
Transcript: ENSMUST00000202724
AA Change: G133E

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000144500
Gene: ENSMUSG00000035020
AA Change: G133E

DomainStartEndE-ValueType
EGF 43 80 5.1e-4 SMART
transmembrane domain 95 117 N/A INTRINSIC
Coding Region Coverage
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: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ace2 A G X: 162,968,701 (GRCm39) T482A probably damaging Het
Adh1 T C 3: 137,988,546 (GRCm39) I173T possibly damaging Het
Apoa1 T C 9: 46,140,548 (GRCm39) S60P possibly damaging Het
Blnk A G 19: 40,922,929 (GRCm39) V396A probably benign Het
Borcs8 A G 8: 70,619,030 (GRCm39) D204G probably damaging Het
Calhm5 G A 10: 33,972,261 (GRCm39) P58L probably damaging Het
Cbfa2t2 A G 2: 154,373,336 (GRCm39) probably benign Het
Cdkal1 T G 13: 29,701,493 (GRCm39) I319L probably benign Het
Celsr1 T A 15: 85,791,922 (GRCm39) T2560S possibly damaging Het
Chd8 A G 14: 52,464,691 (GRCm39) probably null Het
Cyp4f39 T C 17: 32,689,932 (GRCm39) probably benign Het
Dnah10 A G 5: 124,866,876 (GRCm39) N2265S probably damaging Het
Dnah5 C T 15: 28,240,187 (GRCm39) probably benign Het
Fdx2 C A 9: 20,984,766 (GRCm39) V13F probably benign Het
Gabarapl2 A G 8: 112,667,831 (GRCm39) Y25C probably damaging Het
Gigyf1 G A 5: 137,523,826 (GRCm39) probably null Het
Gm6040 G A 8: 21,407,169 (GRCm39) probably benign Het
Gm8229 T C 14: 44,604,054 (GRCm39) L81P unknown Het
Gstz1 A G 12: 87,210,528 (GRCm39) E137G probably benign Het
Htra1 T C 7: 130,538,108 (GRCm39) V36A probably benign Het
Ifnlr1 T C 4: 135,432,578 (GRCm39) V338A probably benign Het
Igsf8 A G 1: 172,140,156 (GRCm39) probably benign Het
Khdc1a T A 1: 21,421,212 (GRCm39) F132L probably benign Het
Kifc3 G A 8: 95,829,108 (GRCm39) S561L probably damaging Het
Mpi T C 9: 57,457,936 (GRCm39) T89A probably benign Het
Ncor2 A T 5: 125,111,467 (GRCm39) M1281K probably damaging Het
Or4c117 T C 2: 88,956,021 (GRCm39) N18S probably benign Het
Or4k49 G T 2: 111,495,333 (GRCm39) C254F probably damaging Het
Or6c213 T A 10: 129,574,181 (GRCm39) I202L probably benign Het
Or6c66b T C 10: 129,377,176 (GRCm39) Y257H probably damaging Het
Otog G A 7: 45,949,571 (GRCm39) G2403D probably damaging Het
Pdgfb C A 15: 79,898,184 (GRCm39) A6S probably benign Het
Pfkm T C 15: 98,021,121 (GRCm39) probably null Het
Plcb4 A G 2: 135,789,041 (GRCm39) M274V probably benign Het
Ppm1m A G 9: 106,074,001 (GRCm39) probably null Het
Rptn A G 3: 93,304,041 (GRCm39) D458G possibly damaging Het
Sertad3 C T 7: 27,175,950 (GRCm39) S128F probably benign Het
Sgo2b A T 8: 64,380,123 (GRCm39) L903Q probably damaging Het
Slc15a5 C T 6: 138,020,598 (GRCm39) R245H probably benign Het
Slc24a5 A T 2: 124,910,218 (GRCm39) T40S probably benign Het
Smchd1 T C 17: 71,738,248 (GRCm39) N539S possibly damaging Het
Tlr11 A G 14: 50,600,489 (GRCm39) D825G probably damaging Het
Top3b T G 16: 16,709,334 (GRCm39) V674G possibly damaging Het
Urb2 G A 8: 124,754,976 (GRCm39) V228I probably benign Het
Usp24 C T 4: 106,268,623 (GRCm39) A2061V possibly damaging Het
Wdr72 C A 9: 74,062,212 (GRCm39) H453N possibly damaging Het
Xkr9 T C 1: 13,771,600 (GRCm39) M372T probably damaging Het
Zc3h12d T G 10: 7,743,096 (GRCm39) S289A probably benign Het
Zfp607b A T 7: 27,398,140 (GRCm39) M75L possibly damaging Het
Other mutations in Epgn
AlleleSourceChrCoordTypePredicted EffectPPH Score
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
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
Posted On 2015-04-16