Epg5^M1Btlr
Chemically induced Allele Detail

Summary

• Symbol: Epg5^M1Btlr
• Name: ectopic P-granules 5 autophagy tethering factor; mutation 1, Bruce Beutler
• MGI ID: MGI:6283983
• Synonyms: stitch
• Gene: Epg5 Location: Chr18:77981680-78078228 bp, + strand Genetic Position: Chr18, 52.38 cM
• Alliance: Epg5^M1Btlr page

Mutation origin

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

Mutation description

• Allele Type: Chemically induced (ENU) (Not Specified)
• Mutation: Single point mutation
• Mutation details: T to A transversion at base pair 77,948,299 (v38) on chromosome 18, or base pair 9,892 in the GenBank genomic region NC_000084. The mutation corresponds to residue 243 (c.243T>A) in the mRNA sequence NM_001195633.2 within exon 2 of 44 total exons. The mutation results in substitution of cysteine 70 for a premature stop codon (p.C70*) in the EPG5 protein. (J:272115)
• Inheritance: Semidominant

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 Epg5 Mutation: 106 strains or lines available

Notes

https://mutagenetix.utsouthwestern.edu/phenotypic/phenotypic_rec.cfm?pk=2993

References

• Original: J:272115 Prince L, et al., Mutagenetix entry for stitch. MGI Direct Data Submission. 2019
• All: 1 reference(s)