Incidental Mutation 'IGL03031:Syt11'
ID 408428
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Syt11
Ensembl Gene ENSMUSG00000068923
Gene Name synaptotagmin XI
Synonyms 6530420C11Rik
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.431) question?
Stock # IGL03031
Quality Score
Status
Chromosome 3
Chromosomal Location 88652006-88682466 bp(-) (GRCm39)
Type of Mutation start codon destroyed
DNA Base Change (assembly) A to T at 88656148 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Lysine at position 1 (M1K)
Ref Sequence ENSEMBL: ENSMUSP00000103127 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000090945] [ENSMUST00000107503] [ENSMUST00000107505]
AlphaFold Q9R0N3
Predicted Effect probably benign
Transcript: ENSMUST00000090945
AA Change: M307K

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
SMART Domains Protein: ENSMUSP00000088464
Gene: ENSMUSG00000068923
AA Change: M307K

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 null
Transcript: ENSMUST00000107503
AA Change: M1K

PolyPhen 2 Score 0.057 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000103127
Gene: ENSMUSG00000068923
AA Change: M1K

DomainStartEndE-ValueType
C2 1 116 1.06e-19 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000107505
AA Change: M307K

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
SMART Domains Protein: ENSMUSP00000103129
Gene: ENSMUSG00000068923
AA Change: M307K

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: M240K
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 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: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca12 T C 1: 71,353,183 (GRCm39) D753G probably benign Het
Adat2 T C 10: 13,432,590 (GRCm39) probably benign Het
Ahsa2 A G 11: 23,440,426 (GRCm39) L275S probably benign Het
Arhgef38 C T 3: 132,837,828 (GRCm39) D118N possibly damaging Het
Bicra A T 7: 15,709,726 (GRCm39) H1097Q probably benign Het
C4b T C 17: 34,950,104 (GRCm39) T1389A possibly damaging Het
Cd180 A G 13: 102,841,535 (GRCm39) S194G probably benign Het
Chgb C A 2: 132,635,434 (GRCm39) Q459K probably benign Het
Clvs1 G T 4: 9,449,385 (GRCm39) probably benign Het
Cpox G A 16: 58,492,923 (GRCm39) G186R probably damaging Het
Cul5 A G 9: 53,553,975 (GRCm39) probably benign Het
Epsti1 G A 14: 78,212,021 (GRCm39) R249K probably benign Het
Gabrg1 A T 5: 70,952,025 (GRCm39) Y90* probably null Het
Gabrp T C 11: 33,504,980 (GRCm39) R274G probably damaging Het
Gm6401 C T 14: 41,788,851 (GRCm39) E73K possibly damaging Het
Hectd4 C T 5: 121,486,857 (GRCm39) T3284M possibly damaging Het
Hoxc9 T C 15: 102,892,522 (GRCm39) M245T probably damaging Het
Lpar6 T C 14: 73,476,882 (GRCm39) V281A possibly damaging Het
Med18 G T 4: 132,186,924 (GRCm39) Q192K possibly damaging Het
Mis18bp1 A G 12: 65,208,704 (GRCm39) V3A probably benign Het
Mpped2 G T 2: 106,613,968 (GRCm39) probably benign Het
Ms4a10 A G 19: 10,946,035 (GRCm39) V32A probably benign Het
Mthfd1l T A 10: 3,968,601 (GRCm39) probably null Het
Myh1 A T 11: 67,097,213 (GRCm39) Q422L possibly damaging Het
Myo3b A T 2: 70,085,721 (GRCm39) Q819L possibly damaging Het
Ncoa1 G A 12: 4,324,818 (GRCm39) T921I possibly damaging Het
Or10d4b A G 9: 39,534,694 (GRCm39) I92V probably damaging Het
Or6c214 A G 10: 129,591,238 (GRCm39) L27P possibly damaging Het
Or8c16 A C 9: 38,130,361 (GRCm39) T81P probably damaging Het
Phf3 A G 1: 30,843,734 (GRCm39) S1742P probably benign Het
Plxdc2 G A 2: 16,655,043 (GRCm39) probably null Het
Poc5 A G 13: 96,538,123 (GRCm39) T263A probably benign Het
Prss41 T A 17: 24,061,396 (GRCm39) I132F probably damaging Het
Pxylp1 A G 9: 96,707,195 (GRCm39) I329T probably benign Het
Rbm27 T C 18: 42,466,464 (GRCm39) probably null Het
Rnps1-ps T C 6: 7,982,857 (GRCm39) noncoding transcript Het
Rpgrip1l A T 8: 91,987,411 (GRCm39) V882E probably damaging Het
Sec16b T C 1: 157,388,369 (GRCm39) S579P probably benign Het
Senp7 A G 16: 55,996,249 (GRCm39) E776G probably damaging Het
Smc2 A G 4: 52,449,638 (GRCm39) I207V probably benign Het
Spata31e5 A G 1: 28,817,664 (GRCm39) F123L probably benign Het
Spats2 A G 15: 99,078,569 (GRCm39) T211A probably benign Het
Sphkap A T 1: 83,254,552 (GRCm39) S779T probably damaging Het
Tacc2 A G 7: 130,225,585 (GRCm39) T757A possibly damaging Het
Tecta A C 9: 42,256,789 (GRCm39) M1629R probably benign Het
Ufsp2 T A 8: 46,437,137 (GRCm39) I101N probably damaging Het
Unc13b T A 4: 43,235,368 (GRCm39) C892S probably damaging Het
Ush1c A G 7: 45,874,361 (GRCm39) probably benign Het
Vwde A T 6: 13,208,381 (GRCm39) V167E probably benign Het
Wdfy4 A G 14: 32,862,608 (GRCm39) L588P probably damaging Het
Zfyve1 T C 12: 83,621,595 (GRCm39) T267A probably damaging Het
Other mutations in Syt11
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01402:Syt11 APN 3 88,669,523 (GRCm39) missense probably benign 0.01
IGL01404:Syt11 APN 3 88,669,523 (GRCm39) missense probably benign 0.01
R0041:Syt11 UTSW 3 88,655,210 (GRCm39) missense probably damaging 1.00
R0326:Syt11 UTSW 3 88,669,855 (GRCm39) missense possibly damaging 0.71
R0569:Syt11 UTSW 3 88,655,230 (GRCm39) missense probably benign 0.02
R0613:Syt11 UTSW 3 88,669,776 (GRCm39) missense probably damaging 1.00
R1209:Syt11 UTSW 3 88,655,147 (GRCm39) missense probably damaging 1.00
R1417:Syt11 UTSW 3 88,669,289 (GRCm39) missense probably damaging 1.00
R1530:Syt11 UTSW 3 88,669,674 (GRCm39) missense probably damaging 1.00
R1544:Syt11 UTSW 3 88,656,110 (GRCm39) missense probably benign 0.00
R1727:Syt11 UTSW 3 88,669,259 (GRCm39) missense possibly damaging 0.92
R4952:Syt11 UTSW 3 88,669,590 (GRCm39) missense possibly damaging 0.85
R5097:Syt11 UTSW 3 88,655,231 (GRCm39) missense probably benign 0.01
R5162:Syt11 UTSW 3 88,655,149 (GRCm39) missense probably damaging 1.00
R6024:Syt11 UTSW 3 88,669,416 (GRCm39) missense probably benign
R6875:Syt11 UTSW 3 88,669,462 (GRCm39) missense possibly damaging 0.84
R7013:Syt11 UTSW 3 88,655,296 (GRCm39) missense possibly damaging 0.82
R7761:Syt11 UTSW 3 88,669,778 (GRCm39) missense possibly damaging 0.68
R8218:Syt11 UTSW 3 88,669,427 (GRCm39) missense probably benign 0.01
R8833:Syt11 UTSW 3 88,655,149 (GRCm39) missense probably damaging 1.00
R8898:Syt11 UTSW 3 88,669,335 (GRCm39) missense probably benign 0.02
R8933:Syt11 UTSW 3 88,655,011 (GRCm39) missense probably damaging 1.00
R8937:Syt11 UTSW 3 88,655,051 (GRCm39) missense probably damaging 1.00
R9127:Syt11 UTSW 3 88,669,643 (GRCm39) missense probably benign
R9605:Syt11 UTSW 3 88,669,325 (GRCm39) missense probably benign 0.08
Posted On 2016-08-02