|Institutional Source||Beutler Lab|
|Is this an essential gene?||Probably non essential (E-score: 0.193)|
|Stock #||R4366 (G1)|
|Chromosomal Location||91074622-91093646 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||T to C at 91086800 bp|
|Amino Acid Change||Isoleucine to Threonine at position 24 (I24T)|
|Ref Sequence||ENSEMBL: ENSMUSP00000031324 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000031324]|
|Predicted Effect||probably benign
AA Change: I24T
PolyPhen 2 Score 0.207 (Sensitivity: 0.92; Specificity: 0.88)
AA Change: I24T
|Meta Mutation Damage Score||0.0898|
|Coding Region Coverage||
|Validation Efficiency||95% (57/60)|
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||
|Other mutations in Ereg||
(F):5'- TGAACCAAAAGGGGCAACAATATTC -3'
(R):5'- ATGGATAAGGCAGGTGTCCC -3'
(F):5'- GGGGCAACAATATTCTCATTTTTATC -3'
(R):5'- ATAAGGCAGGTGTCCCTTCCTAG -3'