Incidental Mutation 'R5162:Syt11'
ID397039
Institutional Source Beutler Lab
Gene Symbol Syt11
Ensembl Gene ENSMUSG00000068923
Gene Namesynaptotagmin XI
Synonyms6530420C11Rik
MMRRC Submission 042744-MU
Accession Numbers
Is this an essential gene? Possibly essential (E-score: 0.520) question?
Stock #R5162 (G1)
Quality Score225
Status Validated
Chromosome3
Chromosomal Location88744700-88775164 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 88747842 bp
ZygosityHeterozygous
Amino Acid Change Aspartic acid to Glycine at position 78 (D78G)
Ref Sequence ENSEMBL: ENSMUSP00000103127 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000090945] [ENSMUST00000107503] [ENSMUST00000107505]
Predicted Effect probably damaging
Transcript: ENSMUST00000090945
AA Change: D384G

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000088464
Gene: ENSMUSG00000068923
AA Change: D384G

DomainStartEndE-ValueType
transmembrane domain 15 37 N/A INTRINSIC
low complexity region 72 83 N/A INTRINSIC
C2 172 276 2.36e-17 SMART
C2 306 422 1.37e-22 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000107503
AA Change: D78G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000103127
Gene: ENSMUSG00000068923
AA Change: D78G

DomainStartEndE-ValueType
C2 1 116 1.06e-19 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000107505
AA Change: D384G

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000103129
Gene: ENSMUSG00000068923
AA Change: D384G

DomainStartEndE-ValueType
transmembrane domain 15 37 N/A INTRINSIC
low complexity region 72 83 N/A INTRINSIC
C2 172 276 2.36e-17 SMART
C2 306 422 1.37e-22 SMART
Predicted Effect unknown
Transcript: ENSMUST00000183267
AA Change: D316G
Meta Mutation Damage Score 0.372 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 94.8%
Validation Efficiency 98% (61/62)
MGI Phenotype 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 are known calcium sensors and mediate calcium-dependent regulation of membrane trafficking in synaptic transmission. The encoded protein is also a substrate for ubiquitin-E3-ligase parkin. The gene has previously been referred to as synaptotagmin XII but has been renamed synaptotagmin XI to be consistent with mouse and rat official nomenclature. [provided by RefSeq, Apr 2010]
PHENOTYPE: Homozygous mutation of this gene results in no obvious abnormal phenotype. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 55 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2010315B03Rik T A 9: 124,293,671 T229S probably benign Het
Adrb3 T C 8: 27,227,320 E367G probably benign Het
Ak9 T A 10: 41,357,657 N630K probably damaging Het
Atp8b1 T C 18: 64,561,662 I516M possibly damaging Het
Bcor C T X: 12,040,486 R1551Q probably damaging Het
Cry1 T A 10: 85,133,286 H558L probably benign Het
Cyp3a57 T A 5: 145,369,083 W126R probably damaging Het
Dhx36 A T 3: 62,493,780 V355E probably damaging Het
Diexf G T 1: 193,113,781 T192K probably damaging Het
Dpp6 A G 5: 27,399,015 probably benign Het
Ehmt1 G T 2: 24,877,497 P135T probably damaging Het
Enpp2 T C 15: 54,847,296 D694G probably benign Het
Esrp2 T C 8: 106,133,298 E336G probably damaging Het
Faah A T 4: 116,000,741 probably benign Het
Fat1 G A 8: 45,025,809 G2608R probably benign Het
Fbxo8 A T 8: 56,569,319 Y122F probably damaging Het
Fgd5 A G 6: 92,074,234 D1497G probably damaging Het
Fn3krp T C 11: 121,429,584 F252L probably damaging Het
Fnip2 T C 3: 79,481,777 Y549C probably damaging Het
Gcm2 T C 13: 41,103,655 N206S probably benign Het
Gm4758 A T 16: 36,312,556 H65L probably damaging Het
Grn C A 11: 102,430,554 probably benign Het
H2-T10 T A 17: 36,118,951 probably null Het
Henmt1 T C 3: 108,940,050 probably null Het
Man1b1 T A 2: 25,343,353 L246Q probably damaging Het
Mdh2 T C 5: 135,783,475 probably null Het
Mocos T C 18: 24,654,052 F43L probably damaging Het
Mpp6 T A 6: 50,178,515 W259R probably damaging Het
Msh2 C A 17: 87,723,413 A906E probably benign Het
Naip5 T A 13: 100,223,406 I441F possibly damaging Het
Naip6 C T 13: 100,300,600 A472T probably benign Het
Nars2 T C 7: 97,059,820 probably benign Het
Ncoa2 A T 1: 13,175,172 M434K possibly damaging Het
Nlrp4g T A 9: 124,350,394 noncoding transcript Het
Olfr459 G T 6: 41,771,772 H176N possibly damaging Het
Olfr761 T A 17: 37,952,364 Q220L probably benign Het
Pars2 A G 4: 106,654,538 T506A probably benign Het
Pkp2 T C 16: 16,260,336 S481P probably damaging Het
Plod3 T C 5: 136,991,307 W459R probably damaging Het
Pramef12 A T 4: 144,394,912 L181M probably damaging Het
Prdm10 A T 9: 31,340,418 I361F possibly damaging Het
Ptpro T A 6: 137,443,594 V1007D probably damaging Het
Raver2 T C 4: 101,102,724 C134R probably damaging Het
Rnf130 G C 11: 50,052,895 A123P probably damaging Het
Slc29a4 G A 5: 142,721,452 A517T possibly damaging Het
Slc38a6 T A 12: 73,329,985 S138T possibly damaging Het
Spred1 T C 2: 117,177,621 V336A possibly damaging Het
Sptlc3 T A 2: 139,631,343 M504K probably benign Het
Trim23 C T 13: 104,181,174 T61I probably damaging Het
Tsg101 T C 7: 46,892,426 T260A probably damaging Het
Tyw5 T C 1: 57,401,459 Y48C probably damaging Het
Vmn1r17 A G 6: 57,360,843 V130A probably benign Het
Vmn2r89 C A 14: 51,456,163 H323Q possibly damaging Het
Vps18 A G 2: 119,292,942 S117G probably benign Het
Zfp93 C G 7: 24,276,332 Q581E probably damaging Het
Other mutations in Syt11
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01402:Syt11 APN 3 88762216 missense probably benign 0.01
IGL01404:Syt11 APN 3 88762216 missense probably benign 0.01
IGL03031:Syt11 APN 3 88748841 start codon destroyed probably null 0.06
R0041:Syt11 UTSW 3 88747903 missense probably damaging 1.00
R0326:Syt11 UTSW 3 88762548 missense possibly damaging 0.71
R0569:Syt11 UTSW 3 88747923 missense probably benign 0.02
R0613:Syt11 UTSW 3 88762469 missense probably damaging 1.00
R1209:Syt11 UTSW 3 88747840 missense probably damaging 1.00
R1417:Syt11 UTSW 3 88761982 missense probably damaging 1.00
R1530:Syt11 UTSW 3 88762367 missense probably damaging 1.00
R1544:Syt11 UTSW 3 88748803 missense probably benign 0.00
R1727:Syt11 UTSW 3 88761952 missense possibly damaging 0.92
R4952:Syt11 UTSW 3 88762283 missense possibly damaging 0.85
R5097:Syt11 UTSW 3 88747924 missense probably benign 0.01
R6024:Syt11 UTSW 3 88762109 missense probably benign
R6875:Syt11 UTSW 3 88762155 missense possibly damaging 0.84
R7013:Syt11 UTSW 3 88747989 missense possibly damaging 0.82
Predicted Primers PCR Primer
(F):5'- GAGTCAGCTTCTCTGTCACC -3'
(R):5'- AGCAGAGGACCGTGTCATAG -3'

Sequencing Primer
(F):5'- ACCTCTCCCCGCCATGTG -3'
(R):5'- ACCGTGTCATAGGCCTGTC -3'
Posted On2016-06-21