Incidental Mutation 'IGL02332:Syt13'
ID 288731
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Syt13
Ensembl Gene ENSMUSG00000027220
Gene Name synaptotagmin XIII
Synonyms
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.077) question?
Stock # IGL02332
Quality Score
Status
Chromosome 2
Chromosomal Location 92915098-92956058 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) T to C at 92940804 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Leucine at position 79 (F79L)
Ref Sequence ENSEMBL: ENSMUSP00000028648 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000028648]
AlphaFold Q9EQT6
Predicted Effect probably benign
Transcript: ENSMUST00000028648
AA Change: F79L

PolyPhen 2 Score 0.024 (Sensitivity: 0.95; Specificity: 0.81)
SMART Domains Protein: ENSMUSP00000028648
Gene: ENSMUSG00000027220
AA Change: F79L

DomainStartEndE-ValueType
transmembrane domain 7 29 N/A INTRINSIC
low complexity region 108 120 N/A INTRINSIC
Pfam:C2 165 277 5e-8 PFAM
C2 303 419 7.86e-14 SMART
Coding Region Coverage
Validation Efficiency
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
Total: 53 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700018B24Rik A G 3: 48,608,888 noncoding transcript Het
Abca13 A T 11: 9,291,482 Y1115F probably damaging Het
Adam29 T A 8: 55,871,740 I560F probably damaging Het
Bivm T C 1: 44,128,720 probably benign Het
Brinp1 C A 4: 68,904,884 R24L probably benign Het
Cnga1 A G 5: 72,604,486 Y562H probably damaging Het
Cr2 C A 1: 195,160,322 Q256H probably benign Het
Dhcr7 A T 7: 143,843,128 N119I probably damaging Het
Dio1 A T 4: 107,293,781 Y169N probably damaging Het
Dmbt1 C T 7: 131,066,613 probably benign Het
Eogt T G 6: 97,125,605 H249P probably damaging Het
Ermard A C 17: 14,990,545 probably null Het
Exoc4 T C 6: 33,249,240 probably null Het
Fxr2 G T 11: 69,649,838 probably null Het
Glyr1 G T 16: 5,018,953 T443N probably damaging Het
Gm14137 T G 2: 119,175,326 L122R probably damaging Het
Gm4845 C A 1: 141,256,597 noncoding transcript Het
Gm8258 A G 5: 104,775,902 noncoding transcript Het
Gmps G A 3: 63,990,569 R258H probably benign Het
Itga6 T G 2: 71,838,373 L552R possibly damaging Het
Itgam T A 7: 128,085,674 probably null Het
Itgb5 G T 16: 33,920,130 E224* probably null Het
Itih4 C A 14: 30,887,860 A49D probably damaging Het
Itpr2 A T 6: 146,426,542 N64K probably damaging Het
Moap1 T C 12: 102,742,807 Y161C probably benign Het
Mst1r G T 9: 107,907,826 G228* probably null Het
Myo1g T C 11: 6,520,766 D30G possibly damaging Het
Ndn T A 7: 62,348,825 C140S probably damaging Het
Nek5 G T 8: 22,095,261 Q367K probably benign Het
Nrd1 A T 4: 109,000,988 R52S probably damaging Het
Nup133 A T 8: 123,907,832 L1007Q probably damaging Het
Olfr1105 T C 2: 87,034,212 D3G probably benign Het
Olfr633 T C 7: 103,946,920 M118T probably damaging Het
Olfr74 A T 2: 87,974,065 L200Q probably damaging Het
P2rx2 T C 5: 110,341,805 S116G probably benign Het
Pcdhb13 G A 18: 37,443,582 V338M probably benign Het
Pdcl2 A T 5: 76,319,135 Y70* probably null Het
Ppm1e T C 11: 87,231,742 H463R probably benign Het
Ppm1f T A 16: 16,914,087 C134S possibly damaging Het
Ppp2r3a A G 9: 101,180,403 F180L possibly damaging Het
Pxn A G 5: 115,544,926 S96G probably benign Het
Rasa4 G T 5: 136,095,599 Q167H probably benign Het
Rfx8 T C 1: 39,718,480 I43V possibly damaging Het
Sez6 C T 11: 77,954,742 probably benign Het
Slc39a6 A T 18: 24,589,823 D473E probably benign Het
Spocd1 A G 4: 129,949,092 D68G probably damaging Het
Tas2r103 A T 6: 133,036,512 M197K probably benign Het
Tbrg4 A G 11: 6,618,492 V429A probably damaging Het
Tuft1 A C 3: 94,615,768 probably null Het
Uqcrc1 A G 9: 108,947,869 T80A probably damaging Het
Vps18 A G 2: 119,293,810 N406S probably benign Het
Xrn2 T A 2: 147,026,590 W188R probably damaging Het
Zzef1 T G 11: 72,916,509 S2738A probably benign Het
Other mutations in Syt13
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02236:Syt13 APN 2 92940865 missense probably damaging 0.96
IGL03015:Syt13 APN 2 92951380 missense possibly damaging 0.94
R0345:Syt13 UTSW 2 92946067 missense possibly damaging 0.66
R0367:Syt13 UTSW 2 92915251 missense probably benign 0.01
R1160:Syt13 UTSW 2 92943042 splice site probably null
R1635:Syt13 UTSW 2 92953415 missense probably damaging 1.00
R1639:Syt13 UTSW 2 92945971 missense probably benign 0.04
R1844:Syt13 UTSW 2 92940820 missense probably damaging 1.00
R1869:Syt13 UTSW 2 92946103 missense possibly damaging 0.90
R2032:Syt13 UTSW 2 92953401 missense probably damaging 1.00
R2306:Syt13 UTSW 2 92940967 missense probably benign 0.04
R2375:Syt13 UTSW 2 92946151 missense probably benign 0.02
R4958:Syt13 UTSW 2 92953449 missense probably damaging 1.00
R5341:Syt13 UTSW 2 92953552 missense probably benign 0.00
R7605:Syt13 UTSW 2 92943133 missense probably benign 0.27
R7921:Syt13 UTSW 2 92953646 missense probably damaging 0.99
R8198:Syt13 UTSW 2 92953554 missense probably damaging 1.00
X0024:Syt13 UTSW 2 92943075 missense probably benign 0.00
Z1176:Syt13 UTSW 2 92940766 missense probably damaging 1.00
Posted On 2015-04-16