Incidental Mutation 'R4128:Stxbp3'
ID 315469
Institutional Source Beutler Lab
Gene Symbol Stxbp3
Ensembl Gene ENSMUSG00000027882
Gene Name syntaxin binding protein 3
Synonyms Stxbp3, Stxbp3a, Munc-18c
MMRRC Submission 041635-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R4128 (G1)
Quality Score 225
Status Not validated
Chromosome 3
Chromosomal Location 108700496-108747818 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 108702147 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamine to Arginine at position 553 (Q553R)
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: Q553R

PolyPhen 2 Score 0.026 (Sensitivity: 0.95; Specificity: 0.81)
SMART Domains Protein: ENSMUSP00000099681
Gene: ENSMUSG00000027882
AA Change: Q553R

DomainStartEndE-ValueType
Pfam:Sec1 33 576 5.9e-107 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000124782
Predicted Effect noncoding transcript
Transcript: ENSMUST00000124903
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 98.6%
  • 10x: 97.1%
  • 20x: 94.5%
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: 34 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamtsl4 C T 3: 95,588,982 (GRCm39) R483Q probably benign Het
Bbox1 A G 2: 110,100,525 (GRCm39) V224A probably benign Het
Cavin2 A G 1: 51,340,581 (GRCm39) *419W probably null Het
Cdk19 A G 10: 40,270,391 (GRCm39) I67V probably benign Het
Cds2 A G 2: 132,139,191 (GRCm39) T145A probably benign Het
Chn2 G T 6: 54,249,963 (GRCm39) R24M probably damaging Het
Csl T C 10: 99,594,462 (GRCm39) D201G probably benign Het
Erap1 T C 13: 74,814,315 (GRCm39) I33T probably damaging Het
Ermap T C 4: 119,044,308 (GRCm39) T163A possibly damaging Het
Gnas A G 2: 174,141,958 (GRCm39) N709S possibly damaging Het
Hsd17b14 G A 7: 45,212,432 (GRCm39) V155M probably damaging Het
Igf2bp2 C T 16: 21,897,371 (GRCm39) V281I probably benign Het
Ighj4 T C 12: 113,392,176 (GRCm39) probably benign Het
Ireb2 T A 9: 54,788,716 (GRCm39) D63E probably benign Het
Jarid2 T C 13: 45,055,732 (GRCm39) S313P probably damaging Het
Kcnj11 A G 7: 45,749,143 (GRCm39) F60S probably damaging Het
Lyplal1 A G 1: 185,821,736 (GRCm39) C129R possibly damaging Het
Mertk C T 2: 128,619,358 (GRCm39) Q539* probably null Het
Myrip C A 9: 120,293,764 (GRCm39) S753* probably null Het
Narf G A 11: 121,141,261 (GRCm39) probably null Het
Neb C A 2: 52,182,712 (GRCm39) L1051F probably damaging Het
Nid1 T C 13: 13,650,957 (GRCm39) V498A probably damaging Het
Or10ab5 T C 7: 108,245,633 (GRCm39) N50S probably benign Het
Or14j8 A G 17: 38,263,681 (GRCm39) I78T probably benign Het
Pam A G 1: 97,762,193 (GRCm39) Y691H probably damaging Het
Poln A G 5: 34,261,295 (GRCm39) S561P probably benign Het
Rab39 T A 9: 53,597,804 (GRCm39) I154L probably benign Het
Rnf187 A T 11: 58,824,883 (GRCm39) S220T probably benign Het
Stac C A 9: 111,433,126 (GRCm39) probably null Het
Tmem179 A T 12: 112,477,461 (GRCm39) F8I possibly damaging Het
Trip11 G A 12: 101,861,957 (GRCm39) Q203* probably null Het
Ubash3a T C 17: 31,456,249 (GRCm39) Y506H probably damaging Het
Unc13c C A 9: 73,641,819 (GRCm39) A1225S probably damaging Het
Zranb1 C A 7: 132,568,281 (GRCm39) S313* probably null Het
Other mutations in Stxbp3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00805:Stxbp3 APN 3 108,723,667 (GRCm39) missense probably benign 0.05
IGL01370:Stxbp3 APN 3 108,704,741 (GRCm39) nonsense probably null
IGL01810:Stxbp3 APN 3 108,707,468 (GRCm39) missense probably benign 0.35
IGL02583:Stxbp3 APN 3 108,708,187 (GRCm39) missense probably damaging 1.00
IGL02827:Stxbp3 APN 3 108,717,211 (GRCm39) missense probably damaging 1.00
IGL03022:Stxbp3 APN 3 108,708,072 (GRCm39) missense probably damaging 1.00
IGL03198:Stxbp3 APN 3 108,734,405 (GRCm39) missense probably damaging 0.96
IGL03410:Stxbp3 APN 3 108,709,476 (GRCm39) missense probably damaging 1.00
G1patch:Stxbp3 UTSW 3 108,734,916 (GRCm39) missense possibly damaging 0.47
R0666:Stxbp3 UTSW 3 108,712,618 (GRCm39) missense possibly damaging 0.49
R3887:Stxbp3 UTSW 3 108,712,549 (GRCm39) splice site probably null
R4683:Stxbp3 UTSW 3 108,708,188 (GRCm39) missense probably damaging 1.00
R5106:Stxbp3 UTSW 3 108,702,243 (GRCm39) missense probably benign 0.01
R5307:Stxbp3 UTSW 3 108,701,114 (GRCm39) missense probably damaging 1.00
R6643:Stxbp3 UTSW 3 108,701,150 (GRCm39) missense probably damaging 1.00
R6722:Stxbp3 UTSW 3 108,723,762 (GRCm39) missense probably benign 0.03
R6725:Stxbp3 UTSW 3 108,734,916 (GRCm39) missense possibly damaging 0.47
R7110:Stxbp3 UTSW 3 108,723,649 (GRCm39) missense probably damaging 1.00
R7135:Stxbp3 UTSW 3 108,708,071 (GRCm39) missense probably damaging 1.00
R7231:Stxbp3 UTSW 3 108,708,125 (GRCm39) missense probably damaging 1.00
R7769:Stxbp3 UTSW 3 108,708,144 (GRCm39) missense probably benign
R8688:Stxbp3 UTSW 3 108,709,425 (GRCm39) critical splice donor site probably benign
R9048:Stxbp3 UTSW 3 108,723,704 (GRCm39) missense probably benign 0.33
R9503:Stxbp3 UTSW 3 108,710,911 (GRCm39) missense probably damaging 1.00
R9523:Stxbp3 UTSW 3 108,747,756 (GRCm39) missense probably damaging 1.00
X0020:Stxbp3 UTSW 3 108,701,163 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- CAGTTTTAAAGGAGCAAGCTTAAGC -3'
(R):5'- TGAGTTTGAGATGCACGCC -3'

Sequencing Primer
(F):5'- GAGTATTAAAATACCAACCAGG -3'
(R):5'- CCGCGTGGCTTTGGGAG -3'
Posted On 2015-05-14