Incidental Mutation 'R5097:Syt11'
ID 388066
Institutional Source Beutler Lab
Gene Symbol Syt11
Ensembl Gene ENSMUSG00000068923
Gene Name synaptotagmin XI
Synonyms 6530420C11Rik
MMRRC Submission 042686-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.431) question?
Stock # R5097 (G1)
Quality Score 225
Status Not validated
Chromosome 3
Chromosomal Location 88652006-88682466 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 88655231 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Isoleucine at position 51 (V51I)
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: V357I

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000088464
Gene: ENSMUSG00000068923
AA Change: V357I

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 benign
Transcript: ENSMUST00000107503
AA Change: V51I

PolyPhen 2 Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)
SMART Domains Protein: ENSMUSP00000103127
Gene: ENSMUSG00000068923
AA Change: V51I

DomainStartEndE-ValueType
C2 1 116 1.06e-19 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000107505
AA Change: V357I

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000103129
Gene: ENSMUSG00000068923
AA Change: V357I

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: V289I
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 96.8%
  • 20x: 93.9%
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: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts3 C A 5: 89,840,909 (GRCm39) V805F probably damaging Het
Adgrb3 G A 1: 25,865,165 (GRCm39) T226M probably damaging Het
Ak5 A G 3: 152,187,270 (GRCm39) S406P probably damaging Het
Akt3 C G 1: 177,076,254 (GRCm39) V12L probably benign Het
Arhgef40 A C 14: 52,227,146 (GRCm39) S397R probably damaging Het
Atp5f1c A G 2: 10,068,323 (GRCm39) V144A probably benign Het
Ccser1 A G 6: 61,289,144 (GRCm39) S436G probably benign Het
Clgn G T 8: 84,137,152 (GRCm39) V290F possibly damaging Het
Dis3l T A 9: 64,226,498 (GRCm39) D261V probably damaging Het
Dnah11 T A 12: 117,981,435 (GRCm39) Y2577F probably damaging Het
Evi5l A G 8: 4,243,317 (GRCm39) E371G probably damaging Het
Fat2 A G 11: 55,201,530 (GRCm39) S515P probably damaging Het
Fsip2 A G 2: 82,822,329 (GRCm39) I6021V probably benign Het
Ftdc1 A C 16: 58,434,227 (GRCm39) N163K probably benign Het
Gstm5 A T 3: 107,803,258 (GRCm39) probably benign Het
H2-Oa G A 17: 34,312,809 (GRCm39) D29N probably damaging Het
Igkv4-80 A C 6: 68,993,649 (GRCm39) S81A probably benign Het
Ireb2 A G 9: 54,802,668 (GRCm39) I434M probably benign Het
Klk14 G A 7: 43,341,501 (GRCm39) C51Y probably damaging Het
Micall1 A G 15: 79,014,078 (GRCm39) T658A probably benign Het
Mitf C T 6: 97,973,423 (GRCm39) A252V possibly damaging Het
Mpzl1 A G 1: 165,433,285 (GRCm39) I122T probably damaging Het
Mtus2 G A 5: 148,232,392 (GRCm39) V146I probably damaging Het
Myh11 C T 16: 14,023,770 (GRCm39) probably null Het
Myrfl A G 10: 116,653,609 (GRCm39) I486T probably damaging Het
N4bp2 T C 5: 65,974,561 (GRCm39) V1477A probably damaging Het
Ndc1 T A 4: 107,231,358 (GRCm39) S100T probably benign Het
Nek10 T A 14: 14,857,851 (GRCm38) N433K probably benign Het
Noc4l C T 5: 110,799,212 (GRCm39) S190N probably benign Het
Nprl2 A G 9: 107,420,731 (GRCm39) E122G probably damaging Het
Or13a19 A G 7: 139,903,008 (GRCm39) Y132C probably damaging Het
Or1e16 G C 11: 73,286,119 (GRCm39) S243C probably damaging Het
Or6n2 C T 1: 173,897,095 (GRCm39) T77I probably benign Het
Osbpl1a T C 18: 12,896,594 (GRCm39) I324V probably damaging Het
Otx1 C A 11: 21,947,037 (GRCm39) A91S probably damaging Het
Peg3 C T 7: 6,713,026 (GRCm39) R732H probably damaging Het
Rfc4 A G 16: 22,933,046 (GRCm39) I297T possibly damaging Het
Rpl3l T A 17: 24,952,435 (GRCm39) D218E probably damaging Het
Rufy4 T C 1: 74,186,822 (GRCm39) C537R probably damaging Het
Sesn2 C T 4: 132,224,209 (GRCm39) V400I probably benign Het
Tas2r115 A C 6: 132,714,216 (GRCm39) L245R probably damaging Het
Tmem115 G A 9: 107,412,059 (GRCm39) V128I probably benign Het
Trim47 A G 11: 115,997,260 (GRCm39) V499A probably benign Het
Trpm7 A T 2: 126,638,256 (GRCm39) probably null Het
Zfp143 A G 7: 109,687,998 (GRCm39) D479G probably damaging Het
Zfp292 T C 4: 34,839,878 (GRCm39) T91A possibly 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
IGL03031:Syt11 APN 3 88,656,148 (GRCm39) start codon destroyed probably null 0.06
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
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
Predicted Primers PCR Primer
(F):5'- AGTACTCGCTCAGACTGTGC -3'
(R):5'- GAAAACAGTGTCTCTTCCATCTAAACC -3'

Sequencing Primer
(F):5'- GCTCAGACTGTGCCACTTG -3'
(R):5'- ATGACCCCTGTGAAATGGTC -3'
Posted On 2016-06-06