|Institutional Source||Beutler Lab|
|Gene Name||synaptotagmin XII|
|Is this an essential gene?||Non essential (E-score: 0.000)|
|Stock #||R7137 (G1)|
|Chromosomal Location||4445908-4477447 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||C to T at 4453950 bp|
|Amino Acid Change||Aspartic acid to Asparagine at position 218 (D218N)|
|Ref Sequence||ENSEMBL: ENSMUSP00000055237 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000059295] [ENSMUST00000166191]|
|Predicted Effect||probably damaging
AA Change: D218N
PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
AA Change: D218N
|Predicted Effect||probably benign
|Coding Region Coverage||
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is a member of the synaptotagmin gene family and encodes a protein similar to other family members that mediate calcium-dependent regulation of membrane trafficking in synaptic transmission. Studies of the orthologous gene in rat have shown that the encoded protein selectively modulates spontaneous synaptic-vesicle exocytosis and may also be involved in regulating calcium independent secretion in nonneuronal cells. Alternative splicing results in multiple transcript variants. The gene has previously been referred to as synaptotagmin XI but has been renamed synaptotagmin XII to be standard with mouse and rat official nomenclature.[provided by RefSeq, Apr 2010]
PHENOTYPE: Mice homozygous for a knock-in allele are viable. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Syt12||
(F):5'- AAGTATAGCCAGCCACTGAAGG -3'
(R):5'- GGAGACCCATGCTTGTAACC -3'
(F):5'- AGCCACTGAAGGGCTGCAG -3'
(R):5'- CTAGCCTTATGCACTTAGTGGCAG -3'