|Institutional Source||Beutler Lab|
|Gene Name||exocyst complex component 6|
|Synonyms||msec15, Sec15l1, 4833405E05Rik, Sec15, hbd|
|Is this an essential gene?||Non essential (E-score: 0.000)|
|Stock #||R5889 (G1)|
|Chromosomal Location||37550418-37683245 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||A to G at 37582245 bp|
|Amino Acid Change||Histidine to Arginine at position 291 (H291R)|
|Ref Sequence||ENSEMBL: ENSMUSP00000064332 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000066439]|
|Predicted Effect||probably damaging
AA Change: H291R
PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
AA Change: H291R
|Meta Mutation Damage Score||0.3368|
|Coding Region Coverage||
|Validation Efficiency||100% (63/63)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is highly similar to the Saccharomyces cerevisiae SEC15 gene product, which is essential for vesicular traffic from the Golgi apparatus to the cell surface in yeast. It is one of the components of a multiprotein complex required for exocytosis. The 5' portion of this gene and two neighboring cytochrome p450 genes are included in a deletion that results in an autosomal-dominant form of nonsyndromic optic nerve aplasia (ONA). Alternative splicing and the use of alternative promoters results in multiple transcript variants. A paralogous gene encoding a similar protein is present on chromosome 2. [provided by RefSeq, Jan 2016]
PHENOTYPE: Homozygotes for a spontaneous mutation exhibit severe microcytic anemia, erythrocyte hyperchromia, and markedly increased levels of red cell protoporphyrin. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Exoc6||
(F):5'- AGACTACTCGGCGTGATAGAG -3'
(R):5'- TTAACTTACAGACCGGGGCC -3'
(F):5'- TCTGCCTAGCATGTGCAAG -3'
(R):5'- GCCTGTTCTGAGAAATGCAC -3'