|Institutional Source||Beutler Lab|
|Gene Name||dedicator of cytokinesis 1|
|Synonyms||D630004B07Rik, Dock180, 9130006G06Rik|
|Is this an essential gene?||Essential (E-score: 1.000)|
|Stock #||R6616 (G1)|
|Chromosomal Location||134670654-135173639 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||G to A at 135108492 bp|
|Amino Acid Change||Glutamic Acid to Lysine at position 1143 (E1143K)|
|Ref Sequence||ENSEMBL: ENSMUSP00000081531 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000084488]|
|Predicted Effect||possibly damaging
AA Change: E1143K
PolyPhen 2 Score 0.845 (Sensitivity: 0.83; Specificity: 0.93)
AA Change: E1143K
|Meta Mutation Damage Score||0.3239|
|Coding Region Coverage||
|Validation Efficiency||100% (51/51)|
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 protein family. Dedicator of cytokinesis proteins act as guanine nucleotide exchange factors for small Rho family G proteins. The encoded protein regulates the small GTPase Rac, thereby influencing several biological processes, including phagocytosis and cell migration. Overexpression of this gene has also been associated with certain cancers. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2014]
PHENOTYPE: Mice homozygous for a null allele exhibit postnatal lethality associated with abnormal muscle development and failure of lungs to inflate. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Dock1||
(F):5'- ATCTCTGTAAGGGCTCAGGG -3'
(R):5'- CTCCAAGAAAGAAACTTGAGGC -3'
(F):5'- GGACAGCATCTCTGAAATGAAATC -3'
(R):5'- TGAGGCATGGTTTAAAATATTTCCC -3'