Dock8pri
Chemically induced Allele Detail
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| Symbol: |
Dock8pri |
| Name: |
dedicator of cytokinesis 8; primurus |
| MGI ID: |
MGI:3835421 |
| Synonyms: |
Dock8S1827P |
| Gene: |
Dock8 Location: Chr19:24976898-25179796 bp, + strand Genetic Position: Chr19, 19.91 cM
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| Alliance: |
Dock8pri page
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| Strain of Origin: |
C57BL/6JAnu
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| Project Collection: |
APF ENU Mutagenesis
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| Allele Type: |
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Chemically induced (ENU) |
| Mutation: |
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Single point mutation
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Mutation details: 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.
(J:155516)
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| Inheritance: |
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Recessive |
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View phenotypes and curated references for all genotypes (concatenated display).
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| Original: |
J:155516 Randall KL, et al., Dock8 mutations cripple B cell immunological synapses, germinal centers and long-lived antibody production. Nat Immunol. 2009 Dec;10(12):1283-91 |
| All: |
8 reference(s) |
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Analysis Tools
