Egfr^m2Btlr
Chemically induced Allele Detail

Summary

• Symbol: Egfr^m2Btlr
• Name: epidermal growth factor receptor; mutation 2, Bruce Beutler
• MGI ID: MGI:5775041
• Synonyms: set
• Gene: Egfr Location: Chr11:16702203-16868158 bp, + strand Genetic Position: Chr11, 9.41 cM, cytoband A1-A4
• Alliance: Egfr^m2Btlr page

Mutation origin

• Strain of Origin: C57BL/6J
• Project Collection: Beutler Mutagenetix

Mutation description

• Allele Type: Chemically induced (ENU)
• Mutation: Single point mutation
• Mutation details: ENU-induced T to C transition at base pair 16,871,881 (v38) on chromosome 11, or base pair 119,679 in the GenBank genomic region NC_000077. The mutation is located within the donor splice site of intron 10, six nucleotides from the previous exon. Two Egfr protein-coding transcripts are displayed on Ensembl; the transcripts encode proteins with distinct C-termini. The mutation in the set mice occurs within intron 10 of both transcripts. The effect of the mutation at the cDNA and protein level is unknown. One possibility, shown below, is that the mutation may disrupt the splice donor site, but it is judged unlikely to do so by splicing prediction programs. In the instance that the mutation affects splicing, the most likely aberrant splicing result is that a cryptic site in intron 10 could be used, resulting in a 12 nucleotide insertion in intron 10. As a result, an in-frame insertion of four aberrant amino acids after amino acid 403 of the protein may occur. (J:231805)
• Inheritance: Recessive

Find Mice (IMSR)

• Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
• Carrying this Mutation: Mouse Strains: 0 strains available Cell Lines: 0 lines available
• Carrying any Egfr Mutation: 87 strains or lines available

References

• Original: J:231805 SoRelle J, et al., Mutagenetix entry for set. MGI Direct Data Submission. 2016
• All: 1 reference(s)