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|Institutional Source||Beutler Lab|
|Gene Name||dedicator of cytokinesis 6|
|Synonyms||2410095B20Rik, C330023D02Rik, 4931431C02Rik|
|Is this an essential gene?||Possibly non essential (E-score: 0.406)|
|Stock #||R8213 (G1)|
|Chromosomal Location||21799860-21852635 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||A to G at 21831444 bp|
|Amino Acid Change||Valine to Alanine at position 785 (V785A)|
|Ref Sequence||ENSEMBL: ENSMUSP00000034728 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000034728] [ENSMUST00000058777]|
|Predicted Effect||possibly damaging
AA Change: V785A
PolyPhen 2 Score 0.773 (Sensitivity: 0.85; Specificity: 0.92)
AA Change: V785A
|Predicted Effect||probably benign
|Coding Region Coverage||
|Validation Efficiency||98% (65/66)|
|MGI Phenotype||FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the dedicator of cytokinesis (DOCK) family of atypical guanine nucleotide exchange factors. Guanine nucleotide exchange factors interact with small GTPases and are components of intracellular signaling networks. The encoded protein is a group C DOCK protein and plays a role in actin cytoskeletal reorganization by activating the Rho GTPases Cdc42 and Rac1. Mutations in this gene are associated with Adams-Oliver syndrome 2. [provided by RefSeq, Dec 2011]|
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Dock6||
(F):5'- GTCAAGTTCCACAGCCCAAG -3'
(R):5'- CTGGTACATGTTCTAGAGGAAGGG -3'
(F):5'- CCCATTCATTTTCCAGAGGAGGG -3'
(R):5'- AAGGGATCTTTCCGTTCCGAC -3'