Primary Identifier | MGI:3835421 | Allele Type | Chemically induced (ENU) |
Gene | Dock8 | Inheritance Mode | Recessive |
Strain of Origin | C57BL/6JAnu | Is Recombinase | false |
Is Wild Type | false | Project Collection | APF ENU Mutagenesis |
molecularNote | This mutation was discovered in an ENU mutagenesis screen for mutations that do not interfere with the initial antibody response to an immunogen, but prevent its maturation and persistence. The mutation comprises a T to C transition that replaces an absolutely conserved serine at amino acid position 1827, in the DOCK-homology region 2 (DHR2) domain of the protein, with proline (S1827P). DHR2 is known to bind to G proteins of the Rho family, promoting GTP --> GDP exchange and initiating a variety of cellular responses. The S1827P substitution is predicted to disrupt the structure of DHR2 lobe B alpha-helix 6 and thus to interfere with its GTP --> GDP exchange function. |