Incidental Mutation 'IGL01927:Ereg'
ID 180321
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: 0.148) question?
Stock # IGL01927
Quality Score
Status
Chromosome 5
Chromosomal Location 91222481-91241505 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 91234671 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Glutamic Acid at position 28 (V28E)
Ref Sequence ENSEMBL: ENSMUSP00000031324 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000031324]
AlphaFold Q61521
Predicted Effect probably damaging
Transcript: ENSMUST00000031324
AA Change: V28E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000031324
Gene: ENSMUSG00000029377
AA Change: V28E

DomainStartEndE-ValueType
signal peptide 1 22 N/A INTRINSIC
EGF 60 97 2.9e-2 SMART
transmembrane domain 112 134 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.] 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: 23 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930402F06Rik A G 2: 35,266,026 (GRCm39) Y215H probably damaging Het
Acsm2 T C 7: 119,177,435 (GRCm39) F317L possibly damaging Het
Akr1d1 A G 6: 37,541,394 (GRCm39) D297G probably benign Het
Atp10b A G 11: 43,150,231 (GRCm39) probably benign Het
Atp8b4 T C 2: 126,164,896 (GRCm39) Y1140C probably damaging Het
Cap2 T A 13: 46,789,109 (GRCm39) S105T probably benign Het
Cspg5 A T 9: 110,091,152 (GRCm39) I414F probably damaging Het
Dipk1b A G 2: 26,526,127 (GRCm39) M354V probably benign Het
Gm10717 C T 9: 3,025,616 (GRCm39) S67L probably benign Het
Gm5862 A C 5: 26,227,769 (GRCm39) W41G probably benign Het
Ift81 G A 5: 122,731,192 (GRCm39) T321M probably benign Het
Kcnip2 T A 19: 45,784,044 (GRCm39) Q95L probably damaging Het
Meis1 C T 11: 18,831,811 (GRCm39) R409H probably benign Het
Opa1 T C 16: 29,405,813 (GRCm39) I126T probably benign Het
Osbpl8 T C 10: 111,106,477 (GRCm39) Y295H probably benign Het
Ppip5k2 A T 1: 97,640,848 (GRCm39) V1005E probably damaging Het
Prdm10 A G 9: 31,246,694 (GRCm39) probably benign Het
Rptor T A 11: 119,548,500 (GRCm39) V58E probably damaging Het
Togaram1 C T 12: 65,023,476 (GRCm39) A687V probably benign Het
Vmn2r1 T C 3: 63,989,105 (GRCm39) F15L probably benign Het
Vmn2r129 C T 4: 156,690,549 (GRCm39) noncoding transcript Het
Vmn2r82 T C 10: 79,213,906 (GRCm39) L164P probably damaging Het
Zfp623 T A 15: 75,819,354 (GRCm39) N103K possibly damaging Het
Other mutations in Ereg
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00264:Ereg APN 5 91,222,638 (GRCm39) missense probably benign
IGL01643:Ereg APN 5 91,234,637 (GRCm39) missense probably benign 0.10
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 2014-05-07