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|Institutional Source||Beutler Lab|
|Gene Name||dedicator of cyto-kinesis 3|
|Is this an essential gene?||Possibly essential (E-score: 0.720)|
|Stock #||R5257 (G1)|
|Chromosomal Location||106892825-107231909 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||T to C at 106996925 bp|
|Amino Acid Change||Tyrosine to Cysteine at position 449 (Y449C)|
|Ref Sequence||ENSEMBL: ENSMUSP00000047652 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000044532]|
|Predicted Effect||probably damaging
AA Change: Y449C
PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
AA Change: Y449C
|Meta Mutation Damage Score||0.1447|
|Coding Region Coverage||
|Validation Efficiency||97% (63/65)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is specifically expressed in the central nervous system (CNS). It encodes a member of the DOCK (dedicator of cytokinesis) family of guanine nucleotide exchange factors (GEFs). This protein, dedicator of cytokinesis 3 (DOCK3), is also known as modifier of cell adhesion (MOCA) and presenilin-binding protein (PBP). The DOCK3 and DOCK1, -2 and -4 share several conserved amino acids in their DHR-2 (DOCK homology region 2) domains that are required for GEF activity, and bind directly to WAVE proteins [Wiskott-Aldrich syndrome protein (WASP) family Verprolin-homologous proteins] via their DHR-1 domains. The DOCK3 induces axonal outgrowth in CNS by stimulating membrane recruitment of the WAVE complex and activating the small G protein Rac1. This gene is associated with an attention deficit hyperactivity disorder-like phenotype by a complex chromosomal rearrangement. [provided by RefSeq, Aug 2010]
PHENOTYPE: Mice homozygous for a null allele exhibit abnormal behaviors and muscular weakness associated with axonal dystrophy. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Dock3||
(F):5'- GCATGCAGGTCAGACACTAG -3'
(R):5'- AGCCTGATGTTCCATGCAGC -3'
(F):5'- AGAATCCTTTTCAAACCATGCTG -3'
(R):5'- ATGTTCCATGCAGCTGGGG -3'