|Institutional Source||Beutler Lab|
|Gene Name||dedicator of cytokinesis 6|
|Synonyms||2410095B20Rik, C330023D02Rik, 4931431C02Rik|
|Is this an essential gene?||Possibly non essential (E-score: 0.409)|
|Stock #||R2924 (G1)|
|Chromosomal Location||21799860-21852635 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||A to T at 21809630 bp|
|Amino Acid Change||Isoleucine to Asparagine at position 1693 (I1693N)|
|Ref Sequence||ENSEMBL: ENSMUSP00000034728 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000034728] [ENSMUST00000217336]|
|Predicted Effect||probably damaging
AA Change: I1693N
PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
AA Change: I1693N
|Predicted Effect||noncoding transcript
AA Change: I457N
|Predicted Effect||possibly damaging
AA Change: I1724N
PolyPhen 2 Score 0.909 (Sensitivity: 0.81; Specificity: 0.94)
|Coding Region Coverage||
|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'- AATGTTTGGCGAGCTGTCTGAC -3'
(R):5'- ACATGCAGAGCTGGGCAATC -3'
(F):5'- TGACAGTGCCACATTGTCCTAGG -3'
(R):5'- TGGTGGCCGAATACCTTGC -3'