Incidental Mutation 'IGL02888:Sytl3'
ID363077
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Sytl3
Ensembl Gene ENSMUSG00000041831
Gene Namesynaptotagmin-like 3
SynonymsSlp3-b, Slp3-a, Slp3
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.100) question?
Stock #IGL02888
Quality Score
Status
Chromosome17
Chromosomal Location6659093-6738044 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 6733084 bp
ZygosityHeterozygous
Amino Acid Change Threonine to Alanine at position 218 (T218A)
Ref Sequence ENSEMBL: ENSMUSP00000123996 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000064234] [ENSMUST00000097430] [ENSMUST00000159394] [ENSMUST00000159880] [ENSMUST00000160483] [ENSMUST00000161118] [ENSMUST00000162635]
Predicted Effect probably benign
Transcript: ENSMUST00000064234
SMART Domains Protein: ENSMUSP00000063734
Gene: ENSMUSG00000052397

DomainStartEndE-ValueType
B41 1 206 7.74e-79 SMART
FERM_C 210 299 1.34e-35 SMART
Pfam:ERM 338 586 2.3e-73 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000097430
AA Change: T423A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000095041
Gene: ENSMUSG00000041831
AA Change: T423A

DomainStartEndE-ValueType
Pfam:FYVE_2 8 124 6e-25 PFAM
low complexity region 162 170 N/A INTRINSIC
C2 321 426 9.17e-15 SMART
C2 478 601 1.92e-8 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000159394
SMART Domains Protein: ENSMUSP00000124146
Gene: ENSMUSG00000041831

DomainStartEndE-ValueType
Pfam:FYVE_2 8 124 3.6e-17 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000159880
AA Change: T228A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000125469
Gene: ENSMUSG00000041831
AA Change: T228A

DomainStartEndE-ValueType
C2 116 221 9.17e-15 SMART
C2 273 396 1.92e-8 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000160483
AA Change: T218A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000123996
Gene: ENSMUSG00000041831
AA Change: T218A

DomainStartEndE-ValueType
C2 126 231 9.17e-15 SMART
C2 283 406 1.92e-8 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000160771
Predicted Effect noncoding transcript
Transcript: ENSMUST00000161118
Predicted Effect probably benign
Transcript: ENSMUST00000162635
SMART Domains Protein: ENSMUSP00000124496
Gene: ENSMUSG00000041831

DomainStartEndE-ValueType
Pfam:FYVE_2 8 124 4.3e-27 PFAM
low complexity region 158 176 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000231743
Predicted Effect noncoding transcript
Transcript: ENSMUST00000232362
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 a family of peripheral membrane proteins that play a role in vesicular trafficking. This protein binds phospholipids in the presence of calcium ions. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2016]
Allele List at MGI
Other mutations in this stock
Total: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam34 T C 8: 43,651,573 H345R probably damaging Het
Afap1l1 T A 18: 61,748,808 Y272F probably damaging Het
AI661453 C A 17: 47,467,404 probably benign Het
Ajap1 T G 4: 153,432,261 I208L probably benign Het
Aldh3b2 G A 19: 3,980,083 V356M probably benign Het
Angptl7 T A 4: 148,496,331 probably benign Het
Atp2a3 G A 11: 72,977,128 probably benign Het
Birc2 T C 9: 7,819,558 D451G probably benign Het
Brpf3 G A 17: 28,828,391 R1043H probably damaging Het
Cd177 A G 7: 24,758,437 L132P probably damaging Het
Chsy3 A G 18: 59,409,995 D735G probably benign Het
Cldn8 A T 16: 88,562,383 I218K probably benign Het
Cltc T C 11: 86,757,297 probably benign Het
Col22a1 T C 15: 71,846,219 H619R unknown Het
Crxos G A 7: 15,902,930 E143K possibly damaging Het
Dcp1b A G 6: 119,220,087 probably benign Het
Ddc A G 11: 11,822,297 probably benign Het
Dnajc13 A T 9: 104,180,062 probably benign Het
Dnajc27 C T 12: 4,089,186 H75Y possibly damaging Het
Fgd3 C T 13: 49,281,816 probably null Het
Gcc2 A G 10: 58,294,828 D1414G probably damaging Het
Gtf3c2 G A 5: 31,173,825 P169L probably damaging Het
Ighv1-76 T A 12: 115,847,946 S96C probably damaging Het
Lmbrd1 T A 1: 24,714,972 I206K possibly damaging Het
Lypd5 A G 7: 24,352,619 S120G probably damaging Het
Mgat4b T A 11: 50,232,332 Y249N probably damaging Het
Msh4 A T 3: 153,896,913 L32* probably null Het
Muc4 A G 16: 32,755,282 probably benign Het
Myo6 A G 9: 80,269,731 probably benign Het
Nenf T C 1: 191,309,921 T113A probably benign Het
Nup85 A G 11: 115,578,800 D75G possibly damaging Het
Nutm1 A T 2: 112,250,635 L438Q probably damaging Het
Oas1h A T 5: 120,861,547 I32F probably benign Het
Oasl1 G A 5: 114,937,182 V434M probably damaging Het
Olfr1412 T C 1: 92,589,203 L291P probably damaging Het
Olfr448 A G 6: 42,897,329 N293D probably damaging Het
Pde2a C A 7: 101,505,069 H549Q probably damaging Het
Phkb G T 8: 85,935,472 probably null Het
Pigm T C 1: 172,377,647 C317R probably damaging Het
Ppl A T 16: 5,100,407 S470R possibly damaging Het
Pramef17 G A 4: 143,994,099 R91W probably benign Het
Slc13a4 A T 6: 35,268,840 D623E probably benign Het
Stx11 A G 10: 12,941,615 S122P possibly damaging Het
Tango6 A G 8: 106,720,665 D565G probably damaging Het
Tex14 T C 11: 87,527,912 probably null Het
Tinag T C 9: 77,031,713 D161G probably benign Het
Vcpip1 T C 1: 9,724,786 D1120G probably damaging Het
Zfp446 G A 7: 12,979,328 A98T probably damaging Het
Other mutations in Sytl3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01626:Sytl3 APN 17 6735440 missense probably damaging 1.00
IGL02893:Sytl3 APN 17 6732974 missense probably damaging 1.00
R1462:Sytl3 UTSW 17 6706031 splice site probably benign
R1469:Sytl3 UTSW 17 6687324 missense probably benign 0.17
R1469:Sytl3 UTSW 17 6687324 missense probably benign 0.17
R1735:Sytl3 UTSW 17 6715481 missense probably benign 0.10
R1765:Sytl3 UTSW 17 6699683 missense probably damaging 0.98
R1834:Sytl3 UTSW 17 6728327 missense probably benign 0.05
R1933:Sytl3 UTSW 17 6733046 missense probably damaging 1.00
R1952:Sytl3 UTSW 17 6728333 missense probably damaging 1.00
R1992:Sytl3 UTSW 17 6733049 missense possibly damaging 0.79
R2279:Sytl3 UTSW 17 6708874 intron probably benign
R2411:Sytl3 UTSW 17 6736493 missense probably damaging 1.00
R4019:Sytl3 UTSW 17 6736493 missense probably damaging 1.00
R4853:Sytl3 UTSW 17 6737765 missense probably damaging 0.97
R4857:Sytl3 UTSW 17 6736581 missense probably damaging 1.00
R5169:Sytl3 UTSW 17 6715546 nonsense probably null
R5485:Sytl3 UTSW 17 6715480 missense probably benign 0.03
R6035:Sytl3 UTSW 17 6728265 missense probably damaging 1.00
R6035:Sytl3 UTSW 17 6728265 missense probably damaging 1.00
Posted On2015-12-18