Missense mutation in the SH3 domain.
Point mutation, substitution of a highly conserved Leu to Pro in the SH3 domain, without altering the PDZ or GUK domains.
Nucleotide substitution: T1895C. Amino acid replacement: L632P. Mutation is in the SH3 domain.
Disrupts the SH3 domain.
T11398481C
T1895C
L640P | dlg1-PA; L652P | dlg1-PB; L632P | dlg1-PD; L632P | dlg1-PE; L632P | dlg1-PG; L593P | dlg1-PH; L593P | dlg1-PK; L601P | dlg1-PL; L890P | dlg1-PM; L632P | dlg1-PN; L640P | dlg1-PP; L632P | dlg1-PQ; L632P | dlg1-PR; L632P | dlg1-PS; L640P | dlg1-PT
L632P
Mutants develop large neoplastic tumours and die at the beginning of metamorphosis.
Homozygous larvae exhibit overgrown imaginal discs. Salivary gland cells show no obvious morphological or ultrastructural defects.
Lethality occurs during metamorphosis with neoplastic growth in imaginal discs and CNS. The morphology of the synaptic bouton structure is altered and the subsynaptic reticulum (SSR) is substantially less extensive and less complex than in wild type.
dlg112 is rescued by Scer\GAL432B/dlg1UAS.cBa
Scer\GAL432B mediated expression of dlg1Scer\UAS.cBa rescues lethality to adulthood.
Voelker.
Class II mutation.