Incidental Mutation 'R4012:Syt6'
ID 311731
Institutional Source Beutler Lab
Gene Symbol Syt6
Ensembl Gene ENSMUSG00000027849
Gene Name synaptotagmin VI
Synonyms 3110037A08Rik
MMRRC Submission 040949-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.125) question?
Stock # R4012 (G1)
Quality Score 225
Status Validated
Chromosome 3
Chromosomal Location 103575231-103645569 bp(+) (GRCm38)
Type of Mutation splice site
DNA Base Change (assembly) A to G at 103625493 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000119688 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000090697] [ENSMUST00000117221] [ENSMUST00000118117] [ENSMUST00000118563] [ENSMUST00000121834] [ENSMUST00000132325] [ENSMUST00000136049] [ENSMUST00000151985]
AlphaFold Q9R0N8
Predicted Effect probably benign
Transcript: ENSMUST00000090697
SMART Domains Protein: ENSMUSP00000088196
Gene: ENSMUSG00000027849

DomainStartEndE-ValueType
transmembrane domain 59 81 N/A INTRINSIC
low complexity region 93 103 N/A INTRINSIC
C2 246 350 2.65e-20 SMART
C2 378 492 2.25e-23 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000117221
SMART Domains Protein: ENSMUSP00000113373
Gene: ENSMUSG00000027849

DomainStartEndE-ValueType
low complexity region 8 18 N/A INTRINSIC
C2 161 265 2.65e-20 SMART
C2 293 407 2.25e-23 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000118117
SMART Domains Protein: ENSMUSP00000112486
Gene: ENSMUSG00000027849

DomainStartEndE-ValueType
low complexity region 8 18 N/A INTRINSIC
C2 161 265 2.65e-20 SMART
C2 293 407 2.25e-23 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000118563
SMART Domains Protein: ENSMUSP00000113287
Gene: ENSMUSG00000027849

DomainStartEndE-ValueType
low complexity region 8 18 N/A INTRINSIC
C2 161 265 2.65e-20 SMART
Pfam:C2 294 332 3.5e-2 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000121834
SMART Domains Protein: ENSMUSP00000112997
Gene: ENSMUSG00000027849

DomainStartEndE-ValueType
transmembrane domain 59 81 N/A INTRINSIC
low complexity region 93 103 N/A INTRINSIC
C2 246 350 2.65e-20 SMART
C2 378 492 2.25e-23 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000132325
SMART Domains Protein: ENSMUSP00000116324
Gene: ENSMUSG00000027849

DomainStartEndE-ValueType
signal peptide 1 25 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000136049
SMART Domains Protein: ENSMUSP00000118124
Gene: ENSMUSG00000027849

DomainStartEndE-ValueType
signal peptide 1 25 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000151985
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 96.8%
  • 20x: 93.0%
Validation Efficiency 100% (79/79)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene belongs to the synaptotagmin family. Synaptotagmins share a common domain structure that includes a transmembrane domain and a cytoplasmic region composed of 2 C2 domains, and are involved in calcium-dependent exocytosis of synaptic vesicles. This protein has been shown to be a key component of the secretory machinery involved in acrosomal exocytosis. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Dec 2011]
Allele List at MGI
Other mutations in this stock
Total: 79 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adnp2 G T 18: 80,130,821 (GRCm38) F124L probably benign Het
Aicda A G 6: 122,559,490 (GRCm38) K10E probably benign Het
Als2 A G 1: 59,187,416 (GRCm38) C910R probably benign Het
Ankrd11 T A 8: 122,892,417 (GRCm38) K1565N probably damaging Het
Apol7b T C 15: 77,424,709 (GRCm38) D63G probably damaging Het
Arhgef4 T C 1: 34,725,106 (GRCm38) C1148R possibly damaging Het
Atg16l1 A G 1: 87,766,907 (GRCm38) D102G probably damaging Het
Babam2 T C 5: 32,001,438 (GRCm38) V244A probably damaging Het
Brd10 T G 19: 29,743,590 (GRCm38) K622N probably damaging Het
Cars1 G A 7: 143,559,674 (GRCm38) A668V possibly damaging Het
Ccdc168 T C 1: 44,060,969 (GRCm38) D323G possibly damaging Het
Ccdc185 T A 1: 182,748,888 (GRCm38) S79C possibly damaging Het
Ccdc88b G C 19: 6,848,991 (GRCm38) R1119G probably damaging Het
Cebpz A T 17: 78,924,467 (GRCm38) V810E probably damaging Het
Cep120 T C 18: 53,738,582 (GRCm38) T73A probably damaging Het
Chat C A 14: 32,423,312 (GRCm38) C380F possibly damaging Het
Cltc T C 11: 86,757,261 (GRCm38) Q10R probably benign Het
Cripto C T 9: 110,940,713 (GRCm38) M169I probably benign Het
Cst8 T C 2: 148,804,702 (GRCm38) probably benign Het
Cts3 C T 13: 61,568,054 (GRCm38) probably null Het
Cyp4a29 T A 4: 115,248,510 (GRCm38) D136E probably benign Het
Dmxl2 A C 9: 54,379,013 (GRCm38) probably null Het
Dsg4 T A 18: 20,451,862 (GRCm38) V211E possibly damaging Het
Efcab5 C T 11: 77,117,830 (GRCm38) V957I probably damaging Het
Eif4g2 A T 7: 111,074,151 (GRCm38) L807Q possibly damaging Het
Epha4 A G 1: 77,390,094 (GRCm38) probably benign Het
Epm2aip1 A T 9: 111,272,390 (GRCm38) I144F probably benign Het
Erbb4 C T 1: 68,560,576 (GRCm38) R114H probably damaging Het
Fabp3 C T 4: 130,312,387 (GRCm38) T57I probably benign Het
Fam170a C T 18: 50,281,971 (GRCm38) A228V probably damaging Het
Foxred1 A T 9: 35,206,275 (GRCm38) M254K possibly damaging Het
Gm1527 T A 3: 28,898,820 (GRCm38) C90S probably benign Het
Gpr137b T C 13: 13,359,362 (GRCm38) T370A probably benign Het
Gtf2e2 A G 8: 33,755,965 (GRCm38) probably benign Het
Hgsnat A T 8: 25,955,789 (GRCm38) L359* probably null Het
Hhip A T 8: 79,992,594 (GRCm38) C435S probably damaging Het
Hoxa13 T C 6: 52,259,127 (GRCm38) D310G possibly damaging Het
Hspa14 T C 2: 3,512,638 (GRCm38) Y18C probably damaging Het
Ighg1 A G 12: 113,329,650 (GRCm38) V140A probably damaging Het
Ighv1-58 A T 12: 115,312,310 (GRCm38) Y69* probably null Het
Inpp5j A G 11: 3,500,185 (GRCm38) F615L probably benign Het
Kcna1 T A 6: 126,642,910 (GRCm38) Y149F probably benign Het
Kcnj6 A T 16: 94,825,018 (GRCm38) probably null Het
Krtap4-1 G T 11: 99,627,811 (GRCm38) C124* probably null Het
Lama1 T A 17: 67,812,373 (GRCm38) L2615* probably null Het
Lcp2 A T 11: 34,068,439 (GRCm38) I72F probably damaging Het
Med1 T A 11: 98,171,706 (GRCm38) I189F possibly damaging Het
Meioc C T 11: 102,675,828 (GRCm38) R757C probably damaging Het
Mtr T A 13: 12,189,397 (GRCm38) H1171L probably damaging Het
Mtr G C 13: 12,189,398 (GRCm38) H1171D probably damaging Het
Naa12 A G 18: 80,212,124 (GRCm38) D211G probably benign Het
Nlrc5 A G 8: 94,475,992 (GRCm38) Y240C possibly damaging Het
Nsun4 T A 4: 116,051,062 (GRCm38) H767L possibly damaging Het
Pcdha1 T A 18: 36,931,136 (GRCm38) N284K probably benign Het
Pcdhgb8 A C 18: 37,763,361 (GRCm38) S495R probably benign Het
Pramel1 T A 4: 143,396,690 (GRCm38) I79N possibly damaging Het
Prdm6 A T 18: 53,540,318 (GRCm38) E183D possibly damaging Het
Prex2 T C 1: 11,184,516 (GRCm38) F1125L probably benign Het
Prkg2 T C 5: 98,979,815 (GRCm38) I346V possibly damaging Het
Ptprz1 A G 6: 23,002,585 (GRCm38) D1558G probably damaging Het
Pttg1ip2 A C 5: 5,478,955 (GRCm38) L20R probably damaging Het
Qng1 T A 13: 58,381,986 (GRCm38) K271* probably null Het
Rab11fip3 GCTCGTCT GCT 17: 26,068,028 (GRCm38) probably null Het
Rin2 C T 2: 145,860,446 (GRCm38) T354I probably benign Het
S100a6 A G 3: 90,614,201 (GRCm38) D50G probably damaging Het
Shroom3 T A 5: 92,948,483 (GRCm38) probably benign Het
Sipa1l1 G A 12: 82,341,782 (GRCm38) V261M possibly damaging Het
Slc5a4b T A 10: 76,074,992 (GRCm38) I337F probably damaging Het
Smarcc1 A G 9: 110,132,205 (GRCm38) Y30C possibly damaging Het
Swap70 A G 7: 110,281,305 (GRCm38) K576E possibly damaging Het
Szt2 T C 4: 118,383,900 (GRCm38) I1726V probably benign Het
Thoc1 A G 18: 9,987,651 (GRCm38) K453E possibly damaging Het
Tmem38b A G 4: 53,854,409 (GRCm38) I214V probably benign Het
Tonsl A T 15: 76,637,044 (GRCm38) I354N probably damaging Het
Trappc9 T C 15: 73,031,623 (GRCm38) I303V possibly damaging Het
Trim66 A G 7: 109,458,131 (GRCm38) S1032P probably damaging Het
Tsc22d4 T C 5: 137,758,328 (GRCm38) V6A probably benign Het
Ubtd2 A G 11: 32,499,260 (GRCm38) K36E probably benign Het
Zkscan2 T C 7: 123,498,660 (GRCm38) E171G possibly damaging Het
Other mutations in Syt6
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00838:Syt6 APN 3 103,625,626 (GRCm38) missense probably damaging 0.98
IGL02944:Syt6 APN 3 103,575,549 (GRCm38) unclassified probably benign
IGL03168:Syt6 APN 3 103,587,627 (GRCm38) missense probably damaging 1.00
PIT4305001:Syt6 UTSW 3 103,575,453 (GRCm38) missense possibly damaging 0.91
R0124:Syt6 UTSW 3 103,587,526 (GRCm38) missense probably damaging 1.00
R0587:Syt6 UTSW 3 103,625,571 (GRCm38) missense probably damaging 0.99
R0601:Syt6 UTSW 3 103,620,890 (GRCm38) missense probably damaging 1.00
R1262:Syt6 UTSW 3 103,585,340 (GRCm38) critical splice acceptor site probably null
R1970:Syt6 UTSW 3 103,587,420 (GRCm38) missense probably benign 0.21
R4450:Syt6 UTSW 3 103,585,645 (GRCm38) missense probably benign 0.01
R4493:Syt6 UTSW 3 103,585,630 (GRCm38) missense probably damaging 0.99
R4494:Syt6 UTSW 3 103,585,630 (GRCm38) missense probably damaging 0.99
R4495:Syt6 UTSW 3 103,587,560 (GRCm38) nonsense probably null
R4740:Syt6 UTSW 3 103,625,656 (GRCm38) missense probably damaging 1.00
R4750:Syt6 UTSW 3 103,630,917 (GRCm38) makesense probably null
R5668:Syt6 UTSW 3 103,620,901 (GRCm38) missense probably damaging 1.00
R6185:Syt6 UTSW 3 103,585,528 (GRCm38) missense probably damaging 1.00
R6660:Syt6 UTSW 3 103,625,644 (GRCm38) missense probably damaging 1.00
R7120:Syt6 UTSW 3 103,587,357 (GRCm38) missense probably damaging 1.00
R7307:Syt6 UTSW 3 103,587,472 (GRCm38) missense probably damaging 1.00
R7501:Syt6 UTSW 3 103,587,702 (GRCm38) missense probably benign 0.01
R8768:Syt6 UTSW 3 103,585,534 (GRCm38) missense probably benign
R8867:Syt6 UTSW 3 103,627,055 (GRCm38) missense possibly damaging 0.91
R8885:Syt6 UTSW 3 103,625,625 (GRCm38) missense probably benign 0.06
R9068:Syt6 UTSW 3 103,587,509 (GRCm38) nonsense probably null
R9098:Syt6 UTSW 3 103,585,579 (GRCm38) missense probably damaging 0.96
R9361:Syt6 UTSW 3 103,575,363 (GRCm38) unclassified probably benign
Z1177:Syt6 UTSW 3 103,645,115 (GRCm38) missense unknown
Predicted Primers PCR Primer
(F):5'- AAGGACTCCGACTCTCTGTG -3'
(R):5'- GACAGGCACCTACCTATCATAGTCC -3'

Sequencing Primer
(F):5'- CGACTCTCTGTGGCAAATGC -3'
(R):5'- CCATAACGGAGATGAGCAGGCTC -3'
Posted On 2015-04-29