|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 #||R4788 (G1)|
|Chromosomal Location||134670654-135173639 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||T to A at 135145484 bp|
|Amino Acid Change||Valine to Aspartic acid at position 1508 (V1508D)|
|Ref Sequence||ENSEMBL: ENSMUSP00000081531 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000084488]|
|PDB Structure||Solution structure of the SH3 domain of DOCK180 [SOLUTION NMR]|
|Predicted Effect||probably damaging
AA Change: V1508D
PolyPhen 2 Score 0.976 (Sensitivity: 0.76; Specificity: 0.96)
AA Change: V1508D
|Coding Region Coverage||
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'- CCCGACACTGCATTAACATG -3'
(R):5'- TGGAAAGTGAGGGTGACTCTC -3'
(F):5'- AACCCCAAATACCTGTATTTTTCCAG -3'
(R):5'- TGAGGGTGACTCTCCACAATAACTTC -3'