|Institutional Source||Beutler Lab|
|Gene Name||exocyst complex component 3|
|Synonyms||Sec6l1, E430013E20Rik, 2810050O03Rik|
|Is this an essential gene?||Probably essential (E-score: 0.964)|
|Stock #||R1438 (G1)|
|Chromosomal Location||74169488-74208732 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||A to T at 74190179 bp|
|Amino Acid Change||Methionine to Lysine at position 362 (M362K)|
|Ref Sequence||ENSEMBL: ENSMUSP00000039416 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000035934] [ENSMUST00000222213]|
|Predicted Effect||probably damaging
AA Change: M362K
PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
AA Change: M362K
|Predicted Effect||probably benign
|Meta Mutation Damage Score||0.8885|
|Coding Region Coverage||
|Validation Efficiency||99% (80/81)|
|MGI Phenotype||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. [provided by RefSeq, Jul 2008]|
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Exoc3||
(F):5'- ACTGCTAAGGTGGCTCATGCTCTC -3'
(R):5'- TGAATGCAAGCTCCCTATGCTTCTG -3'
(F):5'- GGTACATGCCCAGACCATTTG -3'
(R):5'- AGTGGCCCCCAAATCCTTG -3'