Entpd5^m1Btlr
Chemically induced Allele Detail

Summary

• Symbol: Entpd5^m1Btlr
• Name: ectonucleoside triphosphate diphosphohydrolase 5; mutation 1, Bruce Beutler
• MGI ID: MGI:5806325
• Synonyms: eatsy
• Gene: Entpd5 Location: Chr12:84420649-84455803 bp, - strand Genetic Position: Chr12, 39.18 cM, cytoband E
• Alliance: Entpd5^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: ENU-induced C to T transition at base pair 84,382,295 (v38) on chromosome 12, corresponding to base pair 26,735 in the GenBank genomic region NC_000078. The mutation corresponds to residue 1,157 in the NM_007647 (variant 1) mRNA sequence in exon 11 of 14 total exons, residue 1,230 in the NM_001026214 (variant 2) mRNA sequence in exon 13 out of 16 total exons, residue 1,205 in the NM_001286049 (variant 3) mRNA sequence in exon 12 out of 15 total exons, and residue 1,132 in the NM_001286058 mRNA sequence in exon 11 out of 14 total exons. The mutation results in substitution of arginine 346 to a premature stop codon (R346*) in isoform A of the protein, and substitution of arginine 316 to a premature stop codon in isoform B of the protein. (J:236675)
• Inheritance: Recessive

Expression

In Structures Affected by this Mutation:

1 anatomical structure(s)

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 Entpd5 Mutation: 26 strains or lines available

References

• Original: J:236675 Chen Z, et al., Mutagenetix entry for eatsy. MGI Direct Data Submission. 2016
• All: 1 reference(s)