Incidental Mutation 'IGL03394:Stx1b'
ID 421189
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 # IGL03394
Quality Score
Status
Chromosome 7
Chromosomal Location 127403072-127423703 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 127407056 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 213 (D213G)
Ref Sequence ENSEMBL: ENSMUSP00000101874 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000046863] [ENSMUST00000106267] [ENSMUST00000106271] [ENSMUST00000106272] [ENSMUST00000156135] [ENSMUST00000154987]
AlphaFold P61264
Predicted Effect probably benign
Transcript: ENSMUST00000046863
SMART Domains Protein: ENSMUSP00000036245
Gene: ENSMUSG00000042289

DomainStartEndE-ValueType
Pfam:KR 11 147 3e-10 PFAM
Pfam:RmlD_sub_bind 11 198 8.1e-10 PFAM
Pfam:Polysacc_synt_2 12 140 4.6e-13 PFAM
Pfam:NmrA 12 142 1.9e-9 PFAM
Pfam:Epimerase 12 215 3.2e-25 PFAM
Pfam:GDP_Man_Dehyd 13 185 8.1e-17 PFAM
Pfam:3Beta_HSD 13 290 5.4e-99 PFAM
Pfam:NAD_binding_4 14 240 1.4e-15 PFAM
transmembrane domain 312 334 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000106267
AA Change: D213G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000101874
Gene: ENSMUSG00000030806
AA Change: D213G

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: ENSMUST00000106271
SMART Domains Protein: ENSMUSP00000101878
Gene: ENSMUSG00000042289

DomainStartEndE-ValueType
Pfam:adh_short 10 143 1.3e-13 PFAM
Pfam:RmlD_sub_bind 10 186 3.7e-10 PFAM
Pfam:KR 11 140 5.7e-10 PFAM
Pfam:Polysacc_synt_2 12 140 2.8e-13 PFAM
Pfam:NmrA 12 141 2.7e-9 PFAM
Pfam:Epimerase 12 220 2.9e-26 PFAM
Pfam:NAD_binding_10 13 186 2.3e-11 PFAM
Pfam:3Beta_HSD 13 216 1e-70 PFAM
Pfam:NAD_binding_4 14 183 1.3e-17 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000106272
SMART Domains Protein: ENSMUSP00000101879
Gene: ENSMUSG00000042289

DomainStartEndE-ValueType
Pfam:adh_short 10 143 3.7e-13 PFAM
Pfam:RmlD_sub_bind 10 180 2.8e-9 PFAM
Pfam:KR 11 139 1.6e-9 PFAM
Pfam:Polysacc_synt_2 12 140 7.7e-13 PFAM
Pfam:NmrA 12 141 7.3e-9 PFAM
Pfam:Epimerase 12 215 7.1e-26 PFAM
Pfam:NAD_binding_10 13 179 1.1e-10 PFAM
Pfam:3Beta_HSD 13 188 6.1e-70 PFAM
Pfam:NAD_binding_4 14 187 1.5e-17 PFAM
Pfam:3Beta_HSD 177 261 4e-23 PFAM
transmembrane domain 281 303 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000132702
Predicted Effect noncoding transcript
Transcript: ENSMUST00000144748
Predicted Effect probably benign
Transcript: ENSMUST00000156135
AA Change: D67G

PolyPhen 2 Score 0.312 (Sensitivity: 0.90; Specificity: 0.89)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000206297
Predicted Effect probably benign
Transcript: ENSMUST00000154987
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: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc10 A G 17: 46,635,277 (GRCm39) L242P probably damaging Het
Adam22 T C 5: 8,217,379 (GRCm39) I139V probably benign Het
Ahr G T 12: 35,553,751 (GRCm39) Y789* probably null Het
Ankrd27 C A 7: 35,306,523 (GRCm39) probably null Het
Ano1 T C 7: 144,149,176 (GRCm39) probably null Het
Ap4e1 T A 2: 126,905,317 (GRCm39) M996K probably benign Het
Bglap T C 3: 88,291,312 (GRCm39) K42E probably benign Het
Ccdc30 A T 4: 119,216,779 (GRCm39) S220R probably damaging Het
Clic5 A G 17: 44,548,105 (GRCm39) N50S probably benign Het
Csnk2a1-ps3 A T 1: 156,352,792 (GRCm39) Q331L probably benign Het
Cyp20a1 T G 1: 60,405,840 (GRCm39) D211E probably damaging Het
Dctn1 G A 6: 83,168,266 (GRCm39) V408I possibly damaging Het
Exoc6 T C 19: 37,588,020 (GRCm39) I551T probably benign Het
Fat4 C T 3: 38,946,168 (GRCm39) T1687M probably damaging Het
Fat4 T A 3: 39,063,513 (GRCm39) C4490S probably damaging Het
Fras1 T A 5: 96,815,336 (GRCm39) I1351N probably damaging Het
Igkv2-116 T C 6: 68,129,327 (GRCm39) noncoding transcript Het
Iws1 T G 18: 32,221,301 (GRCm39) probably benign Het
Mlh1 A T 9: 111,097,311 (GRCm39) I61N probably damaging Het
Mtmr7 C T 8: 41,061,972 (GRCm39) V38M probably damaging Het
Myh7 G T 14: 55,212,818 (GRCm39) A1409D probably damaging Het
Myt1 A T 2: 181,439,638 (GRCm39) I387F probably damaging Het
Nars2 A G 7: 96,689,220 (GRCm39) N381D possibly damaging Het
Nsd3 T C 8: 26,165,765 (GRCm39) probably benign Het
Nup107 A G 10: 117,617,933 (GRCm39) S162P probably damaging Het
Oog2 T C 4: 143,920,576 (GRCm39) F3S probably benign Het
Or8b1b A G 9: 38,375,517 (GRCm39) Y60C probably damaging Het
Oxgr1 T C 14: 120,260,022 (GRCm39) M62V possibly damaging Het
Pcgf1 A G 6: 83,056,121 (GRCm39) Y75C probably damaging Het
Ppp3cc C A 14: 70,462,477 (GRCm39) E396* probably null Het
Ptx4 T A 17: 25,343,649 (GRCm39) C300S probably damaging Het
Rassf4 C T 6: 116,618,708 (GRCm39) V192I probably damaging Het
Rundc3b T C 5: 8,598,261 (GRCm39) T203A possibly damaging Het
Serpinb3c T C 1: 107,199,603 (GRCm39) D306G probably benign Het
Sipa1l2 T C 8: 126,218,398 (GRCm39) E313G possibly damaging Het
Snx5 G A 2: 144,095,674 (GRCm39) A329V probably damaging Het
Tpd52l2 G A 2: 181,156,879 (GRCm39) V172I probably benign Het
Trim50 A T 5: 135,392,807 (GRCm39) I241F probably damaging Het
Ttn G A 2: 76,580,760 (GRCm39) H23378Y probably benign Het
Vmn1r193 T A 13: 22,403,939 (GRCm39) M18L probably benign Het
Vmn1r226 A G 17: 20,908,446 (GRCm39) N226S probably benign Het
Vmn2r14 T A 5: 109,367,702 (GRCm39) Q430L probably null Het
Xirp2 T A 2: 67,345,538 (GRCm39) V2593D probably damaging Het
Zfp169 A T 13: 48,643,400 (GRCm39) F576I possibly damaging Het
Zfp667 T C 7: 6,292,438 (GRCm39) probably null Het
Zzef1 A G 11: 72,777,601 (GRCm39) probably null Het
Other mutations in Stx1b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00540:Stx1b APN 7 127,409,870 (GRCm39) missense probably damaging 1.00
IGL02730:Stx1b APN 7 127,414,549 (GRCm39) missense probably benign 0.37
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 2016-08-02