Incidental Mutation 'IGL02730:Stx1b'
ID 305396
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Stx1b
Ensembl Gene ENSMUSG00000030806
Gene Name syntaxin 1B
Synonyms Stx1b2
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.324) question?
Stock # IGL02730
Quality Score
Status
Chromosome 7
Chromosomal Location 127403072-127423703 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 127414549 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Leucine at position 25 (R25L)
Ref Sequence ENSEMBL: ENSMUSP00000101874 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000106267] [ENSMUST00000156135]
AlphaFold P61264
Predicted Effect probably benign
Transcript: ENSMUST00000106267
AA Change: R25L

PolyPhen 2 Score 0.372 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000101874
Gene: ENSMUSG00000030806
AA Change: R25L

DomainStartEndE-ValueType
SynN 24 145 1.99e-44 SMART
t_SNARE 186 253 4.32e-24 SMART
transmembrane domain 265 287 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000156135
Predicted Effect noncoding transcript
Transcript: ENSMUST00000206297
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 proteins thought to play a role in the exocytosis of synaptic vesicles. Vesicle exocytosis releases vesicular contents and is important to various cellular functions. For instance, the secretion of transmitters from neurons plays an important role in synaptic transmission. After exocytosis, the membrane and proteins from the vesicle are retrieved from the plasma membrane through the process of endocytosis. Mutations in this gene have been identified as one cause of fever-associated epilepsy syndromes. A possible link between this gene and Parkinson's disease has also been suggested. [provided by RefSeq, Jan 2015]
PHENOTYPE: Mice homozygous for a reporter allele that encodes an 'open' syntaxin-1B protein conformation are viable but display severe ataxia, reduced chromaffin vesicle docking, accelerated synaptic vesicle fusion, and lethal epileptic seizures after 2 weeks of age. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acacb C A 5: 114,304,210 (GRCm39) probably benign Het
Ankib1 A T 5: 3,752,995 (GRCm39) V651E probably damaging Het
BC051665 G A 13: 60,932,826 (GRCm39) probably benign Het
Ces1d C T 8: 93,912,644 (GRCm39) G265S probably benign Het
Dsg1c A C 18: 20,407,887 (GRCm39) D411A probably damaging Het
Exosc5 T C 7: 25,362,622 (GRCm39) I70T possibly damaging Het
Fgf20 T A 8: 40,732,828 (GRCm39) L203F probably damaging Het
Gpsm1 T A 2: 26,215,390 (GRCm39) V316E probably benign Het
Gtpbp1 T A 15: 79,603,372 (GRCm39) D620E probably benign Het
Hs6st1 A G 1: 36,142,709 (GRCm39) T215A probably damaging Het
Irgm2 T A 11: 58,110,816 (GRCm39) M169K probably benign Het
Kcns3 A G 12: 11,142,076 (GRCm39) S208P probably benign Het
Klra6 T C 6: 129,999,660 (GRCm39) T103A probably benign Het
Lrba T A 3: 86,235,506 (GRCm39) M870K probably damaging Het
Mapk1ip1l C T 14: 47,548,377 (GRCm39) T175I possibly damaging Het
Meig1 A G 2: 3,412,947 (GRCm39) Y25H probably damaging Het
Msh2 T C 17: 88,014,643 (GRCm39) F474L probably damaging Het
Nlrp4b T C 7: 10,448,685 (GRCm39) F296S probably damaging Het
Or10d1b C T 9: 39,613,534 (GRCm39) C177Y probably damaging Het
Or12d17 T A 17: 37,777,750 (GRCm39) Y218N probably damaging Het
Or14c40 T C 7: 86,313,275 (GRCm39) L135P probably damaging Het
Or2m12 T A 16: 19,105,432 (GRCm39) L20F probably benign Het
Or5al6 C T 2: 85,976,443 (GRCm39) V212M probably benign Het
Or5w15 T A 2: 87,567,985 (GRCm39) I228F probably damaging Het
Or6z3 T C 7: 6,464,123 (GRCm39) I205T possibly damaging Het
Or8s8 A G 15: 98,354,317 (GRCm39) N42S probably damaging Het
Pds5b A G 5: 150,704,217 (GRCm39) probably benign Het
Plekhg1 A G 10: 3,823,242 (GRCm39) D70G possibly damaging Het
Rubcnl C T 14: 75,287,588 (GRCm39) T624M probably damaging Het
Runx1t1 C T 4: 13,860,019 (GRCm39) H317Y probably benign Het
Sec22a T C 16: 35,134,470 (GRCm39) D282G probably damaging Het
Serpina3a T C 12: 104,085,922 (GRCm39) F126L probably damaging Het
Serpinc1 A G 1: 160,827,598 (GRCm39) D399G probably damaging Het
Sorcs2 A G 5: 36,219,896 (GRCm39) Y383H probably benign Het
Speer3 T A 5: 13,843,285 (GRCm39) M64K probably benign Het
Srrm1 G A 4: 135,052,415 (GRCm39) P658L unknown Het
Syt5 A G 7: 4,545,356 (GRCm39) V181A probably damaging Het
Tspoap1 G T 11: 87,672,535 (GRCm39) V1788F probably damaging Het
Vinac1 T C 2: 128,880,646 (GRCm39) T427A possibly damaging Het
Vmn1r233 A G 17: 21,214,057 (GRCm39) S298P possibly damaging Het
Xntrpc T C 7: 101,731,319 (GRCm39) S353P probably damaging Het
Other mutations in Stx1b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00540:Stx1b APN 7 127,409,870 (GRCm39) missense probably damaging 1.00
IGL03394:Stx1b APN 7 127,407,056 (GRCm39) missense probably damaging 1.00
R0680:Stx1b UTSW 7 127,406,895 (GRCm39) missense possibly damaging 0.80
R1141:Stx1b UTSW 7 127,410,098 (GRCm39) splice site probably null
R1511:Stx1b UTSW 7 127,414,144 (GRCm39) missense probably damaging 0.99
R2024:Stx1b UTSW 7 127,414,575 (GRCm39) missense probably benign 0.00
R2116:Stx1b UTSW 7 127,410,077 (GRCm39) missense probably damaging 1.00
R4964:Stx1b UTSW 7 127,407,093 (GRCm39) missense probably damaging 1.00
R4966:Stx1b UTSW 7 127,407,093 (GRCm39) missense probably damaging 1.00
R5385:Stx1b UTSW 7 127,414,575 (GRCm39) missense probably benign 0.00
R5386:Stx1b UTSW 7 127,414,575 (GRCm39) missense probably benign 0.00
R5777:Stx1b UTSW 7 127,410,090 (GRCm39) nonsense probably null
R6092:Stx1b UTSW 7 127,407,035 (GRCm39) missense possibly damaging 0.94
R6184:Stx1b UTSW 7 127,407,077 (GRCm39) missense possibly damaging 0.79
R6688:Stx1b UTSW 7 127,407,068 (GRCm39) missense probably damaging 1.00
R6843:Stx1b UTSW 7 127,414,151 (GRCm39) nonsense probably null
R7493:Stx1b UTSW 7 127,406,531 (GRCm39) missense possibly damaging 0.88
R7919:Stx1b UTSW 7 127,406,507 (GRCm39) missense probably benign 0.19
R8401:Stx1b UTSW 7 127,406,945 (GRCm39) splice site probably benign
R9164:Stx1b UTSW 7 127,414,159 (GRCm39) missense probably benign
R9608:Stx1b UTSW 7 127,406,551 (GRCm39) missense probably damaging 0.99
Posted On 2015-04-16