Incidental Mutation 'IGL01810:Stxbp3'
ID 155812
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Stxbp3
Ensembl Gene ENSMUSG00000027882
Gene Name syntaxin binding protein 3
Synonyms Stxbp3, Stxbp3a, Munc-18c
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL01810
Quality Score
Status
Chromosome 3
Chromosomal Location 108793176-108840526 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) T to C at 108800152 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 420 (E420G)
Ref Sequence ENSEMBL: ENSMUSP00000099681 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000102621]
AlphaFold Q60770
PDB Structure Re-refinement of the crystal structure of Munc18-3 and Syntaxin4 N-peptide complex [X-RAY DIFFRACTION]
Predicted Effect probably benign
Transcript: ENSMUST00000102621
AA Change: E420G

PolyPhen 2 Score 0.351 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000099681
Gene: ENSMUSG00000027882
AA Change: E420G

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: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aarsd1 G T 11: 101,417,359 Y10* probably null Het
Aass C A 6: 23,107,634 Q383H probably damaging Het
Bag1 T C 4: 40,936,657 D333G probably damaging Het
Cap2 A G 13: 46,639,949 probably benign Het
Col27a1 G T 4: 63,225,631 A519S probably benign Het
Cr2 A G 1: 195,159,595 V726A possibly damaging Het
Csmd2 A G 4: 128,480,845 probably benign Het
Dennd4c A G 4: 86,799,551 D595G possibly damaging Het
Ercc2 G T 7: 19,393,449 R340L probably damaging Het
Espl1 A G 15: 102,298,205 T35A probably benign Het
Fndc3a A G 14: 72,566,141 Y525H probably benign Het
Gm4922 T C 10: 18,784,047 Q309R probably benign Het
Gm5263 T C 1: 146,420,554 noncoding transcript Het
Gm6563 A C 19: 23,676,387 R180S probably damaging Het
Gpr182 C A 10: 127,750,864 V73F probably damaging Het
Gramd1b C T 9: 40,315,773 R179H probably damaging Het
Hk1 C T 10: 62,353,105 A10T probably benign Het
Hmgn3 C A 9: 83,110,384 probably benign Het
Il1b C T 2: 129,369,729 E24K probably damaging Het
Itgb6 G T 2: 60,627,985 Q475K probably benign Het
Lrrc74b A G 16: 17,545,558 S368P probably benign Het
Mfsd2b T C 12: 4,866,469 T234A possibly damaging Het
Muc6 A T 7: 141,651,062 Y270N probably damaging Het
Naip6 A G 13: 100,288,095 probably benign Het
Olfr142 A T 2: 90,252,132 Y285* probably null Het
Pear1 G A 3: 87,752,301 T742I probably damaging Het
Peli2 G A 14: 48,256,034 V238I probably benign Het
Pira2 A G 7: 3,844,612 L26P probably damaging Het
Pot1b A G 17: 55,662,521 V549A possibly damaging Het
Prdm16 T C 4: 154,347,927 Y295C probably benign Het
Ptprd A T 4: 76,140,507 probably benign Het
Rap1gap A T 4: 137,716,155 M145L probably benign Het
Setd7 A T 3: 51,532,967 probably benign Het
Ssx2ip T C 3: 146,428,010 I258T probably benign Het
Stard9 T C 2: 120,699,084 Y1941H possibly damaging Het
Tpra1 T C 6: 88,909,342 V101A probably damaging Het
Tpx2 G T 2: 152,884,235 Q373H probably damaging Het
Ttn C T 2: 76,727,008 R29914Q probably damaging Het
Ubr3 T C 2: 70,003,465 probably null Het
Usp18 G A 6: 121,253,771 G53D probably damaging Het
Vps13c A T 9: 67,955,780 H3026L probably benign Het
Zan T C 5: 137,463,626 E1097G unknown 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
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
G1patch:Stxbp3 UTSW 3 108827600 missense possibly damaging 0.47
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
R7769:Stxbp3 UTSW 3 108800828 missense probably benign
R8688:Stxbp3 UTSW 3 108802109 critical splice donor site probably benign
R9048:Stxbp3 UTSW 3 108816388 missense probably benign 0.33
R9503:Stxbp3 UTSW 3 108803595 missense probably damaging 1.00
R9523:Stxbp3 UTSW 3 108840440 missense probably damaging 1.00
X0020:Stxbp3 UTSW 3 108793847 missense probably damaging 1.00
Posted On 2014-02-04