Incidental Mutation 'R5777:Stx1b'
ID 446761
Institutional Source Beutler Lab
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 # R5777 (G1)
Quality Score 225
Status Not validated
Chromosome 7
Chromosomal Location 127403072-127423703 bp(-) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) G to A at 127410090 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamine to Stop codon at position 3 (Q3*)
Ref Sequence ENSEMBL: ENSMUSP00000145698 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000106267] [ENSMUST00000156135]
AlphaFold P61264
Predicted Effect probably null
Transcript: ENSMUST00000106267
AA Change: Q149*
SMART Domains Protein: ENSMUSP00000101874
Gene: ENSMUSG00000030806
AA Change: Q149*

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 null
Transcript: ENSMUST00000156135
AA Change: Q3*
Predicted Effect noncoding transcript
Transcript: ENSMUST00000206297
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.5%
  • 20x: 95.8%
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: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Agrp T C 8: 106,294,000 (GRCm39) E41G probably benign Het
Amph A T 13: 19,230,186 (GRCm39) N45Y probably damaging Het
Atp11a T A 8: 12,882,522 (GRCm39) L470Q probably damaging Het
C130073F10Rik T A 4: 101,747,946 (GRCm39) Y76F possibly damaging Het
Casp12 A T 9: 5,354,548 (GRCm39) I306F probably benign Het
Cobll1 A T 2: 64,933,612 (GRCm39) M460K probably benign Het
Col6a4 A T 9: 105,890,895 (GRCm39) L1800I possibly damaging Het
Ctdsp1 T C 1: 74,433,227 (GRCm39) V131A probably damaging Het
Ctnna3 A G 10: 64,511,664 (GRCm39) H618R probably benign Het
Dhx38 C A 8: 110,283,534 (GRCm39) V538L possibly damaging Het
Dtwd1 A G 2: 126,001,733 (GRCm39) D151G probably damaging Het
Fbxw28 A G 9: 109,167,604 (GRCm39) L51P probably damaging Het
Gm4781 C T 10: 100,232,831 (GRCm39) noncoding transcript Het
Gm5134 C A 10: 75,840,594 (GRCm39) F479L probably benign Het
H2bc27 A G 11: 58,839,835 (GRCm39) K24E probably benign Het
Hexa T G 9: 59,468,243 (GRCm39) V290G probably damaging Het
Ifi206 C T 1: 173,308,928 (GRCm39) R356K possibly damaging Het
Kcnj12 G A 11: 60,961,277 (GRCm39) R525Q possibly damaging Het
Lrp2 A T 2: 69,285,869 (GRCm39) I3774N probably damaging Het
Msh4 C A 3: 153,569,076 (GRCm39) M832I probably benign Het
Myh10 A G 11: 68,676,685 (GRCm39) E852G probably damaging Het
Ndufaf1 A T 2: 119,490,963 (GRCm39) C32* probably null Het
Nos2 A G 11: 78,830,978 (GRCm39) E387G probably null Het
Or4f58 C T 2: 111,851,876 (GRCm39) G108R probably damaging Het
Or55b10 A G 7: 102,143,178 (GRCm39) V268A probably benign Het
Or5h27 T A 16: 59,006,266 (GRCm39) L193F unknown Het
Or7a36 A C 10: 78,820,512 (GRCm39) D296A possibly damaging Het
Or7g29 A T 9: 19,287,014 (GRCm39) H54Q probably benign Het
Or8j3c A G 2: 86,253,669 (GRCm39) V117A probably benign Het
P3h3 T C 6: 124,832,921 (GRCm39) T211A probably benign Het
Pcdh7 A G 5: 57,876,856 (GRCm39) N137S probably damaging Het
Pgf T C 12: 85,216,148 (GRCm39) T157A possibly damaging Het
Prex1 T C 2: 166,428,579 (GRCm39) D714G probably damaging Het
Scn7a T C 2: 66,522,913 (GRCm39) I930M probably damaging Het
Siglecg T C 7: 43,058,837 (GRCm39) S197P possibly damaging Het
Skint7 T A 4: 111,845,289 (GRCm39) I367N probably benign Het
Slfn5 A T 11: 82,851,830 (GRCm39) D652V probably damaging Het
Tex35 T C 1: 156,934,777 (GRCm39) M46V probably benign Het
Tkt A C 14: 30,280,733 (GRCm39) T55P possibly damaging Het
Trim30c T C 7: 104,032,538 (GRCm39) R263G probably benign Het
U2af2 G A 7: 5,069,450 (GRCm39) R33Q probably benign Het
Washc4 T A 10: 83,391,469 (GRCm39) V182D probably damaging Het
Xirp2 T C 2: 67,340,348 (GRCm39) V863A possibly damaging Het
Zfp976 T G 7: 42,263,504 (GRCm39) H111P probably benign Het
Zfp982 A T 4: 147,595,321 (GRCm39) N48Y probably damaging 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
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
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
Predicted Primers PCR Primer
(F):5'- CATCAGTGAAGATGGCCAGC -3'
(R):5'- ACTAGGGTCCTGAATATATGTGGG -3'

Sequencing Primer
(F):5'- AGTAGTCCTGCCAGCTGTG -3'
(R):5'- GAGAGTGGTGCTGCAGC -3'
Posted On 2016-12-15