|Institutional Source||Beutler Lab|
|Gene Name||dedicator of cytokinesis 4|
|Synonyms||EST N28122, 6330411N01Rik|
|Essential gene?||Probably non essential (E-score: 0.178)|
|Stock #||R4091 (G1)|
|Chromosomal Location||40445952-40846874 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||T to C at 40844267 bp (GRCm38)|
|Amino Acid Change||Serine to Proline at position 1847 (S1847P)|
|Ref Sequence||ENSEMBL: ENSMUSP00000047387 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000037488] [ENSMUST00000220912]|
AA Change: S1847P
PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
AA Change: S1847P
AA Change: S1809P
PolyPhen 2 Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)
|Meta Mutation Damage Score||0.0944|
|Coding Region Coverage||
|Validation Efficiency||98% (61/62)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is a member of the dedicator of cytokinesis (DOCK) family and encodes a protein with a DHR-1 (CZH-1) domain, a DHR-2 (CZH-2) domain and an SH3 domain. This membrane-associated, cytoplasmic protein functions as a guanine nucleotide exchange factor and is involved in regulation of adherens junctions between cells. Mutations in this gene have been associated with ovarian, prostate, glioma, and colorectal cancers. Alternatively spliced variants which encode different protein isoforms have been described, but only one has been fully characterized. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous disruption of this gene leads to complete embryonic lethality. Heterozygotes display altered blood vessel lumen formation. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Dock4||
(F):5'- GGATTCCCCTATAAATCCAAGTTTGTC -3'
(R):5'- TCCGCTCGTAGACACTGTAG -3'
(F):5'- GTCTTCATAAAGAGCCAGTCAGTC -3'
(R):5'- GCTCTCCTTGCGTACAGG -3'