|Institutional Source||Beutler Lab|
|Gene Name||exocyst complex component 4|
|Is this an essential gene?||Essential (E-score: 1.000)|
|Stock #||R7129 (G1)|
|Chromosomal Location||33249085-33973979 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||T to C at 33971999 bp|
|Amino Acid Change||Tyrosine to Histidine at position 926 (Y926H)|
|Ref Sequence||ENSEMBL: ENSMUSP00000051965 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000052266]|
|Predicted Effect||probably damaging
AA Change: Y926H
PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
AA Change: Y926H
|Coding Region Coverage||
|Validation Efficiency||98% (58/59)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a component of the exocyst complex, a multiple protein complex essential for targeting exocytic vesicles to specific docking sites on the plasma membrane. Though best characterized in yeast, the component proteins and functions of exocyst complex have been demonstrated to be highly conserved in higher eukaryotes. At least eight components of the exocyst complex, including this protein, are found to interact with the actin cytoskeletal remodeling and vesicle transport machinery. The complex is also essential for the biogenesis of epithelial cell surface polarity. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for disruptions in this gene display embryonic abnormatlities. Gastrulation is not completed and mesoderm formation is abnormal. Death occurs before E10.5. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Exoc4||
(F):5'- TCTCCAATAAGGTAGTGTGTGAGTG -3'
(R):5'- TGAGGTGCACTCCATCACAC -3'
(F):5'- TGCCTTCTGGGTAGTCAGTAAACAAG -3'
(R):5'- GTGCACTCCATCACACAGTGG -3'