Incidental Mutation 'IGL03410:Stxbp3'
ID421746
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 #IGL03410
Quality Score
Status
Chromosome3
Chromosomal Location108793176-108840526 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to T at 108802160 bp
ZygosityHeterozygous
Amino Acid Change Cysteine to Tyrosine at position 354 (C354Y)
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 damaging
Transcript: ENSMUST00000102621
AA Change: C354Y

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000099681
Gene: ENSMUSG00000027882
AA Change: C354Y

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: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700010I14Rik T A 17: 9,001,896 V409E probably damaging Het
1700086D15Rik A G 11: 65,152,567 probably benign Het
Apba1 A G 19: 23,937,581 N715S possibly damaging Het
Arfgef3 G T 10: 18,600,490 A1527D probably damaging Het
Cmtm2a G T 8: 104,283,869 P133T probably damaging Het
Cyp2d9 T C 15: 82,456,699 V483A probably benign Het
Dclre1b T A 3: 103,808,140 D14V probably damaging Het
Dock5 T C 14: 67,846,086 I125V probably benign Het
Dok3 G T 13: 55,524,231 Y211* probably null Het
Fat4 T C 3: 38,891,176 V1406A probably damaging Het
Fbn2 A G 18: 58,050,243 F1790S possibly damaging Het
Gm13083 C A 4: 143,615,281 H93Q probably benign Het
Gm4787 A T 12: 81,379,174 M70K probably damaging Het
Gulp1 A T 1: 44,708,617 D10V probably damaging Het
Hagh T C 17: 24,860,942 probably benign Het
Htt A G 5: 34,799,445 E206G probably damaging Het
Hyou1 A G 9: 44,388,058 E682G probably benign Het
Igkv4-59 G T 6: 69,438,466 A35E probably damaging Het
Krt78 A G 15: 101,953,986 V80A probably damaging Het
Lars2 G A 9: 123,418,776 A333T possibly damaging Het
Lrrc4 G A 6: 28,830,516 R367W probably damaging Het
Med1 A T 11: 98,189,183 M44K possibly damaging Het
Mep1a T A 17: 43,478,095 probably null Het
Mmrn1 A G 6: 60,975,835 I367V probably benign Het
Myo18a T C 11: 77,848,004 L1677P probably damaging Het
Neb T C 2: 52,319,705 T246A probably benign Het
Nkiras1 A G 14: 18,280,073 R155G probably benign Het
Nrip1 T C 16: 76,292,491 N726S probably benign Het
Nyap2 A G 1: 81,241,441 T393A possibly damaging Het
Olfr1029 T A 2: 85,975,420 M59K probably damaging Het
Olfr1272 A G 2: 90,282,213 Y121H probably damaging Het
Olfr32 G A 2: 90,139,145 probably benign Het
Oprm1 A T 10: 6,830,051 I238F probably damaging Het
Pcnx2 T A 8: 125,887,040 E557D probably damaging Het
Pole A G 5: 110,324,559 I1563V probably benign Het
Prdx3 T G 19: 60,871,410 probably benign Het
Rgsl1 C T 1: 153,793,755 R295K probably null Het
Rhbdl2 T A 4: 123,829,670 L289* probably null Het
Rnps1 A G 17: 24,421,861 probably benign Het
Rpgrip1 A G 14: 52,158,366 probably benign Het
Ryr2 A T 13: 11,588,147 Y4518N probably damaging Het
Scyl3 A G 1: 163,944,867 N296S probably damaging Het
Sipa1l3 G A 7: 29,348,539 T1308M probably damaging Het
Slc39a9 A G 12: 80,644,888 D3G probably damaging Het
Slc4a9 A G 18: 36,529,687 E165G probably benign Het
Slc6a3 A T 13: 73,538,657 I48F probably benign Het
Terb1 C A 8: 104,473,042 probably benign Het
Tfrc G A 16: 32,624,831 probably null Het
Toporsl A C 4: 52,611,134 R342S probably benign Het
Ttc26 T C 6: 38,385,500 L70P probably damaging Het
Ube2d3 T A 3: 135,465,217 W141R probably damaging Het
Vps13b G T 15: 35,910,340 V3417L probably benign Het
Other mutations in Stxbp3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00805:Stxbp3 APN 3 108816351 missense probably benign 0.05
IGL01370:Stxbp3 APN 3 108797425 nonsense probably null
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
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 probably damaging 1.00
R7135:Stxbp3 UTSW 3 108800755 missense probably damaging 1.00
R7231:Stxbp3 UTSW 3 108800809 missense probably damaging 1.00
X0020:Stxbp3 UTSW 3 108793847 missense probably damaging 1.00
Posted On2016-08-02