|Institutional Source||Beutler Lab|
|Gene Name||synaptotagmin XIII|
|Is this an essential gene?||Probably non essential (E-score: 0.102)|
|Stock #||R2306 (G1)|
|Chromosomal Location||92915098-92956058 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||G to A at 92940967 bp|
|Amino Acid Change||Arginine to Histidine at position 133 (R133H)|
|Ref Sequence||ENSEMBL: ENSMUSP00000028648 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000028648]|
|Predicted Effect||probably benign
AA Change: R133H
PolyPhen 2 Score 0.035 (Sensitivity: 0.94; Specificity: 0.82)
AA Change: R133H
|Meta Mutation Damage Score||0.0898|
|Coding Region Coverage||
|Validation Efficiency||100% (34/34)|
|MGI Phenotype||FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the large synaptotagmin protein family. Family members have an extracellular N-terminal transmembrane domain and a cytoplasmic C terminus with two tandem C2 domains (C2A and C2B). Synaptotogmin family members can form homo- and heteromeric complexes with each other. They also have different biochemical properties and developmental profiles, and patterns of tissue distribution. Synaptotagmins function as membrane traffickers in multicellular organisms. Two alternatively spliced transcript variants that encode different protein isoforms have been described for this gene. [provided by RefSeq, Oct 2011]|
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Syt13||
(F):5'- TGTTCGCACCAACTAACCAG -3'
(R):5'- AACAGACTCTTCGTTTCTCACAG -3'
(F):5'- TTAAAAAGTCCACGGAGCCTGTC -3'
(R):5'- CGTTTCTCACAGGAAAGCTG -3'