Incidental Mutation 'IGL00264:Ereg'
ID5591
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ereg
Ensembl Gene ENSMUSG00000029377
Gene Nameepiregulin
SynonymsEPR
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.143) question?
Stock #IGL00264
Quality Score
Status
Chromosome5
Chromosomal Location91074622-91093646 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to A at 91074779 bp
ZygosityHeterozygous
Amino Acid Change Serine to Tyrosine at position 7 (S7Y)
Ref Sequence ENSEMBL: ENSMUSP00000031324 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000031324]
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
3110002H16Rik T C 18: 12,179,219 V172A probably benign Het
Actr3 T G 1: 125,397,229 I319L probably benign Het
Akap7 C T 10: 25,171,240 D20N probably benign Het
Ambra1 T A 2: 91,911,589 S1070T probably benign Het
Arhgef9 T C X: 95,081,631 probably null Het
Ascc3 T G 10: 50,714,435 V1083G probably damaging Het
Asns T A 6: 7,680,179 E312D probably damaging Het
Bpifc A C 10: 85,960,528 V472G possibly damaging Het
Ccdc71 T A 9: 108,463,038 S17T probably damaging Het
Cebpzos T C 17: 78,918,348 probably benign Het
Cfi T C 3: 129,873,095 I489T probably damaging Het
Chrm2 T A 6: 36,523,391 F61Y probably damaging Het
Cpxm1 T C 2: 130,395,943 Y149C probably damaging Het
Dnah6 A G 6: 73,195,737 I246T probably benign Het
Ghsr T A 3: 27,374,873 L349Q possibly damaging Het
Gm10754 A G 10: 97,682,412 probably benign Het
Gm8237 A T 14: 5,864,475 L29H probably benign Het
Hexim2 A G 11: 103,138,455 E111G probably damaging Het
Itga1 A T 13: 114,992,363 N586K possibly damaging Het
Kat6b A G 14: 21,668,559 D1102G probably benign Het
Kif27 A T 13: 58,337,604 M514K probably benign Het
Matn2 T C 15: 34,428,470 I660T probably damaging Het
Mki67 C A 7: 135,707,820 G301* probably null Het
Olfr1451 A G 19: 12,999,319 Y111C probably damaging Het
Olfr1480 A C 19: 13,529,850 Y103S probably damaging Het
Olfr364-ps1 T C 2: 37,147,067 F285S probably damaging Het
Olfr539 T A 7: 140,667,941 I211N probably benign Het
Pcdhb8 A T 18: 37,355,473 H68L probably benign Het
Pkhd1l1 T C 15: 44,491,029 V272A possibly damaging Het
Pstpip2 T C 18: 77,871,559 probably benign Het
Rdh14 G T 12: 10,391,134 G99W probably damaging Het
Sra1 A T 18: 36,668,739 S99R probably benign Het
Tbrg1 G T 9: 37,651,041 N280K probably benign Het
Ugt8a A G 3: 125,914,636 probably null Het
Usp40 A T 1: 88,004,238 probably benign Het
Vmn1r45 T A 6: 89,933,664 Y108F probably damaging Het
Zfp521 A G 18: 13,846,502 Y285H probably benign Het
Other mutations in Ereg
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01643:Ereg APN 5 91086778 missense probably benign 0.10
IGL01927:Ereg APN 5 91086812 missense probably damaging 1.00
IGL03355:Ereg APN 5 91088581 splice site probably benign
I0000:Ereg UTSW 5 91089209 missense probably benign 0.08
R0245:Ereg UTSW 5 91074800 missense possibly damaging 0.73
R4366:Ereg UTSW 5 91086800 missense probably benign 0.21
R4958:Ereg UTSW 5 91090111 missense probably damaging 1.00
R5422:Ereg UTSW 5 91074807 critical splice donor site probably null
R5911:Ereg UTSW 5 91074693 utr 5 prime probably benign
R6838:Ereg UTSW 5 91088464 missense probably benign 0.00
X0009:Ereg UTSW 5 91090084 missense probably benign 0.29
Z1176:Ereg UTSW 5 91090120 missense possibly damaging 0.90
Posted On2012-04-20