Incidental Mutation 'IGL00264:Ereg'
ID 5591
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ereg
Ensembl Gene ENSMUSG00000029377
Gene Name epiregulin
Synonyms EPR
Accession Numbers
Essential gene? Probably non essential (E-score: 0.142) question?
Stock # IGL00264
Quality Score
Status
Chromosome 5
Chromosomal Location 91222481-91241505 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 91222638 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Tyrosine at position 7 (S7Y)
Ref Sequence ENSEMBL: ENSMUSP00000031324 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000031324]
AlphaFold Q61521
Predicted Effect probably benign
Transcript: ENSMUST00000031324
AA Change: S7Y

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000031324
Gene: ENSMUSG00000029377
AA Change: S7Y

DomainStartEndE-ValueType
signal peptide 1 22 N/A INTRINSIC
EGF 60 97 2.9e-2 SMART
transmembrane domain 112 134 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000202894
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 secreted peptide hormone and member of the epidermal growth factor (EGF) family of proteins. The encoded protein is a ligand of the epidermal growth factor receptor (EGFR) and the structurally related erb-b2 receptor tyrosine kinase 4 (ERBB4). The encoded protein may be involved in a wide range of biological processes including inflammation, wound healing, oocyte maturation, and cell proliferation. Additionally, the encoded protein may promote the progression of cancers of various human tissues. [provided by RefSeq, Jul 2015]
PHENOTYPE: Homozygous null mice for one allele develop chronic dermatitis. Homozygous null mice for another allele display increased sensitivity to dextran sulfate sodium. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Actr3 T G 1: 125,324,966 (GRCm39) I319L probably benign Het
Akap7 C T 10: 25,047,138 (GRCm39) D20N probably benign Het
Ambra1 T A 2: 91,741,934 (GRCm39) S1070T probably benign Het
Arhgef9 T C X: 94,125,237 (GRCm39) probably null Het
Ascc3 T G 10: 50,590,531 (GRCm39) V1083G probably damaging Het
Asns T A 6: 7,680,179 (GRCm39) E312D probably damaging Het
Bpifc A C 10: 85,796,392 (GRCm39) V472G possibly damaging Het
Ccdc71 T A 9: 108,340,237 (GRCm39) S17T probably damaging Het
Cebpzos T C 17: 79,225,777 (GRCm39) probably benign Het
Cfi T C 3: 129,666,744 (GRCm39) I489T probably damaging Het
Chrm2 T A 6: 36,500,326 (GRCm39) F61Y probably damaging Het
Cpxm1 T C 2: 130,237,863 (GRCm39) Y149C probably damaging Het
Dnah6 A G 6: 73,172,720 (GRCm39) I246T probably benign Het
Ghsr T A 3: 27,429,022 (GRCm39) L349Q possibly damaging Het
Gm10754 A G 10: 97,518,274 (GRCm39) probably benign Het
Gm8237 A T 14: 5,864,475 (GRCm38) L29H probably benign Het
Hexim2 A G 11: 103,029,281 (GRCm39) E111G probably damaging Het
Itga1 A T 13: 115,128,899 (GRCm39) N586K possibly damaging Het
Kat6b A G 14: 21,718,627 (GRCm39) D1102G probably benign Het
Kif27 A T 13: 58,485,418 (GRCm39) M514K probably benign Het
Matn2 T C 15: 34,428,616 (GRCm39) I660T probably damaging Het
Mki67 C A 7: 135,309,549 (GRCm39) G301* probably null Het
Or13a25 T A 7: 140,247,854 (GRCm39) I211N probably benign Het
Or1l4b T C 2: 37,037,079 (GRCm39) F285S probably damaging Het
Or5b121 A C 19: 13,507,214 (GRCm39) Y103S probably damaging Het
Or5b99 A G 19: 12,976,683 (GRCm39) Y111C probably damaging Het
Pcdhb8 A T 18: 37,488,526 (GRCm39) H68L probably benign Het
Pkhd1l1 T C 15: 44,354,425 (GRCm39) V272A possibly damaging Het
Pstpip2 T C 18: 77,959,259 (GRCm39) probably benign Het
Rdh14 G T 12: 10,441,134 (GRCm39) G99W probably damaging Het
Rmc1 T C 18: 12,312,276 (GRCm39) V172A probably benign Het
Sra1 A T 18: 36,801,792 (GRCm39) S99R probably benign Het
Tbrg1 G T 9: 37,562,337 (GRCm39) N280K probably benign Het
Ugt8a A G 3: 125,708,285 (GRCm39) probably null Het
Usp40 A T 1: 87,931,960 (GRCm39) probably benign Het
Vmn1r45 T A 6: 89,910,646 (GRCm39) Y108F probably damaging Het
Zfp521 A G 18: 13,979,559 (GRCm39) Y285H probably benign Het
Other mutations in Ereg
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01643:Ereg APN 5 91,234,637 (GRCm39) missense probably benign 0.10
IGL01927:Ereg APN 5 91,234,671 (GRCm39) missense probably damaging 1.00
IGL03355:Ereg APN 5 91,236,440 (GRCm39) splice site probably benign
I0000:Ereg UTSW 5 91,237,068 (GRCm39) missense probably benign 0.08
R0245:Ereg UTSW 5 91,222,659 (GRCm39) missense possibly damaging 0.73
R4366:Ereg UTSW 5 91,234,659 (GRCm39) missense probably benign 0.21
R4958:Ereg UTSW 5 91,237,970 (GRCm39) missense probably damaging 1.00
R5422:Ereg UTSW 5 91,222,666 (GRCm39) critical splice donor site probably null
R5911:Ereg UTSW 5 91,222,552 (GRCm39) utr 5 prime probably benign
R6838:Ereg UTSW 5 91,236,323 (GRCm39) missense probably benign 0.00
R8356:Ereg UTSW 5 91,237,993 (GRCm39) missense possibly damaging 0.58
R8456:Ereg UTSW 5 91,237,993 (GRCm39) missense possibly damaging 0.58
R8712:Ereg UTSW 5 91,237,013 (GRCm39) missense possibly damaging 0.94
X0009:Ereg UTSW 5 91,237,943 (GRCm39) missense probably benign 0.29
Z1176:Ereg UTSW 5 91,237,979 (GRCm39) missense possibly damaging 0.90
Posted On 2012-04-20