Incidental Mutation 'IGL00838:Syt6'
ID 14332
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Syt6
Ensembl Gene ENSMUSG00000027849
Gene Name synaptotagmin VI
Synonyms 3110037A08Rik
Accession Numbers
Essential gene? Probably non essential (E-score: 0.123) question?
Stock # IGL00838
Quality Score
Status
Chromosome 3
Chromosomal Location 103482561-103552883 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 103532942 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Lysine at position 357 (M357K)
Ref Sequence ENSEMBL: ENSMUSP00000112486 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000090697] [ENSMUST00000117221] [ENSMUST00000118117] [ENSMUST00000118563] [ENSMUST00000121834] [ENSMUST00000132325] [ENSMUST00000151985] [ENSMUST00000136049]
AlphaFold Q9R0N8
Predicted Effect probably damaging
Transcript: ENSMUST00000090697
AA Change: M442K

PolyPhen 2 Score 0.962 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000088196
Gene: ENSMUSG00000027849
AA Change: M442K

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 damaging
Transcript: ENSMUST00000117221
AA Change: M357K

PolyPhen 2 Score 0.962 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000113373
Gene: ENSMUSG00000027849
AA Change: M357K

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 damaging
Transcript: ENSMUST00000118117
AA Change: M357K

PolyPhen 2 Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000112486
Gene: ENSMUSG00000027849
AA Change: M357K

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 damaging
Transcript: ENSMUST00000121834
AA Change: M442K

PolyPhen 2 Score 0.962 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000112997
Gene: ENSMUSG00000027849
AA Change: M442K

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: ENSMUST00000151985
Predicted Effect probably benign
Transcript: ENSMUST00000136049
SMART Domains Protein: ENSMUSP00000118124
Gene: ENSMUSG00000027849

DomainStartEndE-ValueType
signal peptide 1 25 N/A INTRINSIC
Coding Region Coverage
Validation Efficiency
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: 23 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ano7 C A 1: 93,330,479 (GRCm39) N834K possibly damaging Het
Armc10 T A 5: 21,866,579 (GRCm39) V281E probably damaging Het
Baat A T 4: 49,490,352 (GRCm39) M244K probably damaging Het
Cryz T A 3: 154,324,112 (GRCm39) C166S probably damaging Het
D430041D05Rik T A 2: 104,031,648 (GRCm39) K1649N probably damaging Het
Dennd5b T C 6: 148,906,861 (GRCm39) probably benign Het
Dock8 A T 19: 25,152,823 (GRCm39) R1630* probably null Het
Gstm5 A G 3: 107,804,874 (GRCm39) N122S probably benign Het
Klra5 C A 6: 129,888,322 (GRCm39) G35C possibly damaging Het
Klrb1f G A 6: 129,031,279 (GRCm39) V159I possibly damaging Het
Mgl2 A T 11: 70,025,038 (GRCm39) M14L probably benign Het
Mob1a C T 6: 83,315,313 (GRCm39) R78C possibly damaging Het
Pigo C T 4: 43,021,767 (GRCm39) A392T possibly damaging Het
Polr3a A T 14: 24,525,931 (GRCm39) N436K probably benign Het
Prokr1 T C 6: 87,565,675 (GRCm39) T57A possibly damaging Het
Ror1 T G 4: 100,190,940 (GRCm39) V99G probably damaging Het
Ryr2 A T 13: 11,583,389 (GRCm39) I4755N probably damaging Het
Senp5 T C 16: 31,807,991 (GRCm39) D394G probably damaging Het
Skic3 T C 13: 76,282,910 (GRCm39) L744P probably damaging Het
Speg A G 1: 75,387,034 (GRCm39) I1318V possibly damaging Het
Tex11 A T X: 100,015,724 (GRCm39) I328N possibly damaging Het
Vnn1 T C 10: 23,776,677 (GRCm39) F343L possibly damaging Het
Wdr72 A T 9: 74,062,411 (GRCm39) E519V probably damaging Het
Other mutations in Syt6
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02944:Syt6 APN 3 103,482,865 (GRCm39) unclassified probably benign
IGL03168:Syt6 APN 3 103,494,943 (GRCm39) missense probably damaging 1.00
PIT4305001:Syt6 UTSW 3 103,482,769 (GRCm39) missense possibly damaging 0.91
R0124:Syt6 UTSW 3 103,494,842 (GRCm39) missense probably damaging 1.00
R0587:Syt6 UTSW 3 103,532,887 (GRCm39) missense probably damaging 0.99
R0601:Syt6 UTSW 3 103,528,206 (GRCm39) missense probably damaging 1.00
R1262:Syt6 UTSW 3 103,492,656 (GRCm39) critical splice acceptor site probably null
R1970:Syt6 UTSW 3 103,494,736 (GRCm39) missense probably benign 0.21
R4012:Syt6 UTSW 3 103,532,809 (GRCm39) splice site probably benign
R4450:Syt6 UTSW 3 103,492,961 (GRCm39) missense probably benign 0.01
R4493:Syt6 UTSW 3 103,492,946 (GRCm39) missense probably damaging 0.99
R4494:Syt6 UTSW 3 103,492,946 (GRCm39) missense probably damaging 0.99
R4495:Syt6 UTSW 3 103,494,876 (GRCm39) nonsense probably null
R4740:Syt6 UTSW 3 103,532,972 (GRCm39) missense probably damaging 1.00
R4750:Syt6 UTSW 3 103,538,233 (GRCm39) makesense probably null
R5668:Syt6 UTSW 3 103,528,217 (GRCm39) missense probably damaging 1.00
R6185:Syt6 UTSW 3 103,492,844 (GRCm39) missense probably damaging 1.00
R6660:Syt6 UTSW 3 103,532,960 (GRCm39) missense probably damaging 1.00
R7120:Syt6 UTSW 3 103,494,673 (GRCm39) missense probably damaging 1.00
R7307:Syt6 UTSW 3 103,494,788 (GRCm39) missense probably damaging 1.00
R7501:Syt6 UTSW 3 103,495,018 (GRCm39) missense probably benign 0.01
R8768:Syt6 UTSW 3 103,492,850 (GRCm39) missense probably benign
R8867:Syt6 UTSW 3 103,534,371 (GRCm39) missense possibly damaging 0.91
R8885:Syt6 UTSW 3 103,532,941 (GRCm39) missense probably benign 0.06
R9068:Syt6 UTSW 3 103,494,825 (GRCm39) nonsense probably null
R9098:Syt6 UTSW 3 103,492,895 (GRCm39) missense probably damaging 0.96
R9361:Syt6 UTSW 3 103,482,679 (GRCm39) unclassified probably benign
Z1177:Syt6 UTSW 3 103,552,431 (GRCm39) missense unknown
Posted On 2012-12-06