|Institutional Source||Beutler Lab|
|Gene Name||dedicator of cytokinesis 8|
|Synonyms||A130095G14Rik, 5830472H07Rik, 1200017A24Rik|
|Is this an essential gene?||Probably non essential (E-score: 0.074)|
|Stock #||R1822 (G1)|
|Chromosomal Location||24999529-25202432 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||A to G at 25161058 bp|
|Amino Acid Change||Glutamic Acid to Glycine at position 1249 (E1249G)|
|Ref Sequence||ENSEMBL: ENSMUSP00000025831 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000025831]|
|PDB Structure||Crystal structure of the DHR-2 domain of DOCK8 in complex with Cdc42 (T17N mutant) [X-RAY DIFFRACTION]|
|Predicted Effect||probably benign
AA Change: E1249G
PolyPhen 2 Score 0.315 (Sensitivity: 0.90; Specificity: 0.89)
AA Change: E1249G
|Meta Mutation Damage Score||0.1329|
|Coding Region Coverage||
|Validation Efficiency||97% (105/108)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the DOCK180 family of guanine nucleotide exchange factors. Guanine nucleotide exchange factors interact with Rho GTPases and are components of intracellular signaling networks. Mutations in this gene result in the autosomal recessive form of the hyper-IgE syndrome. Alternatively spliced transcript variants encoding different isoforms have been described.[provided by RefSeq, Jun 2010]
PHENOTYPE: Mice homozygous for inactivating mutations of this gene exhibit loss of marginal zone B cells, decrease in peritoneal B1 cells and peripheral naive T cells, failure of sustained antibody response after immunization, failure of germinal center persistence, and failure of B cell affinity maturation. [provided by MGI curators]
|Allele List at MGI|
Mice homozygous for inactivating mutations of this gene exhibit loss of marginal zone B cells, decrease in peritoneal B1 cells and peripheral naive T cells, failure of sustained antibody response after immunization, failure of germinal center persistence, and failure of B cell affinity maturation.
|Other mutations in this stock||
|Other mutations in Dock8||
(F):5'- TAGCTCATAGCCTAAGCGTATGC -3'
(R):5'- AGGCTGGGTTCTATCAGAAGTTTAG -3'
(F):5'- AGCCTGTCTGCTTTTTCTATATATG -3'
(R):5'- TTTAGGAGGAGGTGACATCAAC -3'