Incidental Mutation 'IGL01370:Stxbp3'
ID76090
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Stxbp3
Ensembl Gene ENSMUSG00000027882
Gene Namesyntaxin binding protein 3
SynonymsStxbp3, Stxbp3a, Munc-18c
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL01370
Quality Score
Status
Chromosome3
Chromosomal Location108793176-108840526 bp(-) (GRCm38)
Type of Mutationnonsense
DNA Base Change (assembly) A to C at 108797425 bp
ZygosityHeterozygous
Amino Acid Change Tyrosine to Stop codon at position 497 (Y497*)
Ref Sequence ENSEMBL: ENSMUSP00000099681 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000102621]
PDB Structure
Re-refinement of the crystal structure of Munc18-3 and Syntaxin4 N-peptide complex [X-RAY DIFFRACTION]
Predicted Effect probably null
Transcript: ENSMUST00000102621
AA Change: Y497*
SMART Domains Protein: ENSMUSP00000099681
Gene: ENSMUSG00000027882
AA Change: Y497*

DomainStartEndE-ValueType
Pfam:Sec1 33 576 5.9e-107 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000124782
Predicted Effect noncoding transcript
Transcript: ENSMUST00000124903
Predicted Effect noncoding transcript
Transcript: ENSMUST00000150010
Coding Region Coverage
Validation Efficiency
MGI Phenotype PHENOTYPE: Homozygous null mice display embryonic or perinatal lethality with reduced embryonic growth and malformation of the intermediate zone of the cerebral cortex. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4932438A13Rik T A 3: 36,947,755 I1283N probably benign Het
Adck1 A T 12: 88,456,733 probably benign Het
Add1 C T 5: 34,630,515 T210I probably damaging Het
Alpk2 A T 18: 65,350,591 D115E possibly damaging Het
Ankrd36 C T 11: 5,584,019 T290I probably benign Het
Ccnt2 T C 1: 127,803,513 F709S possibly damaging Het
Erc1 T C 6: 119,824,465 E197G probably damaging Het
Ftsj3 G T 11: 106,252,319 R390S possibly damaging Het
Gabrb3 G A 7: 57,816,478 A347T probably benign Het
Gatsl2 T C 5: 134,138,272 V323A probably benign Het
Gde1 A G 7: 118,689,160 probably benign Het
Gm996 T C 2: 25,578,957 E314G possibly damaging Het
Jhy A T 9: 40,917,142 N489K probably benign Het
Kiss1r A G 10: 79,918,824 T51A probably benign Het
Lama5 T C 2: 180,197,400 S772G possibly damaging Het
Lamb2 G T 9: 108,487,733 probably null Het
Loxl3 A G 6: 83,049,487 T475A probably damaging Het
Lpl A T 8: 68,887,568 S72C possibly damaging Het
Lrrc74a A T 12: 86,754,430 I352F probably damaging Het
Mcoln2 T C 3: 146,181,830 I334T possibly damaging Het
Mettl8 T G 2: 70,982,039 D49A probably damaging Het
Ms4a3 T A 19: 11,632,881 T106S probably benign Het
Obscn T A 11: 58,995,563 probably null Het
Olfr108 C A 17: 37,445,714 H64Q probably benign Het
Olfr113 T C 17: 37,574,521 I301V probably null Het
Olfr1461 A T 19: 13,165,299 Y95F possibly damaging Het
Olfr406 G A 11: 74,269,499 V37I probably benign Het
Olfr732 G T 14: 50,282,232 T7K probably damaging Het
Pcnx2 T C 8: 125,801,483 K1333E probably damaging Het
Pias3 T C 3: 96,703,575 F364L probably damaging Het
Piezo2 T A 18: 63,022,460 I2438F probably damaging Het
Plcb3 A C 19: 6,962,824 V465G probably damaging Het
Plekho2 G T 9: 65,558,630 H159N probably damaging Het
Polr2e A G 10: 80,036,847 probably benign Het
Rab6b G T 9: 103,163,895 V163L probably benign Het
Rabep1 A G 11: 70,925,781 M597V probably benign Het
Rbm15 A G 3: 107,331,010 S691P probably damaging Het
Sec24b G A 3: 130,007,604 probably benign Het
Slc6a18 A G 13: 73,667,031 I386T probably damaging Het
Styk1 T C 6: 131,301,652 K353R probably damaging Het
Tbc1d10b A T 7: 127,199,081 H629Q probably damaging Het
Tbc1d5 T A 17: 50,966,727 I119F probably benign Het
Tcp11l1 G T 2: 104,706,486 D11E probably benign Het
Tfap2d A G 1: 19,104,785 Y154C probably damaging Het
Tgm5 T C 2: 121,053,537 N325S probably benign Het
Thbs2 T C 17: 14,690,065 K91E possibly damaging Het
Vmn2r26 T A 6: 124,061,756 F763L probably benign Het
Washc4 A G 10: 83,558,830 E308G probably damaging Het
Xpot C A 10: 121,604,494 A611S probably benign Het
Other mutations in Stxbp3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00805:Stxbp3 APN 3 108816351 missense probably benign 0.05
IGL01810:Stxbp3 APN 3 108800152 missense probably benign 0.35
IGL02583:Stxbp3 APN 3 108800871 missense probably damaging 1.00
IGL02827:Stxbp3 APN 3 108809895 missense probably damaging 1.00
IGL03022:Stxbp3 APN 3 108800756 missense probably damaging 1.00
IGL03198:Stxbp3 APN 3 108827089 missense probably damaging 0.96
IGL03410:Stxbp3 APN 3 108802160 missense probably damaging 1.00
R0666:Stxbp3 UTSW 3 108805302 missense possibly damaging 0.49
R3887:Stxbp3 UTSW 3 108805233 splice site probably null
R4128:Stxbp3 UTSW 3 108794831 missense probably benign 0.03
R4683:Stxbp3 UTSW 3 108800872 missense probably damaging 1.00
R5106:Stxbp3 UTSW 3 108794927 missense probably benign 0.01
R5307:Stxbp3 UTSW 3 108793798 missense probably damaging 1.00
R6643:Stxbp3 UTSW 3 108793834 missense probably damaging 1.00
R6722:Stxbp3 UTSW 3 108816446 missense probably benign 0.03
R6725:Stxbp3 UTSW 3 108827600 missense possibly damaging 0.47
R7110:Stxbp3 UTSW 3 108816333 missense not run
R7135:Stxbp3 UTSW 3 108800755 missense not run
X0020:Stxbp3 UTSW 3 108793847 missense probably damaging 1.00
Posted On2013-10-07