Incidental Mutation 'IGL03198:Stxbp3'
ID412888
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 #IGL03198
Quality Score
Status
Chromosome3
Chromosomal Location108793176-108840526 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 108827089 bp
ZygosityHeterozygous
Amino Acid Change Phenylalanine to Leucine at position 40 (F40L)
Ref Sequence ENSEMBL: ENSMUSP00000142860 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000102621] [ENSMUST00000106596] [ENSMUST00000138552]
Predicted Effect probably benign
Transcript: ENSMUST00000102621
AA Change: F40L

PolyPhen 2 Score 0.151 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000099681
Gene: ENSMUSG00000027882
AA Change: F40L

DomainStartEndE-ValueType
Pfam:Sec1 33 576 5.9e-107 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000106596
AA Change: F40L

PolyPhen 2 Score 0.955 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000102206
Gene: ENSMUSG00000027882
AA Change: F40L

DomainStartEndE-ValueType
Pfam:Sec1 32 93 3.5e-20 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000138552
AA Change: F40L

PolyPhen 2 Score 0.959 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000142860
Gene: ENSMUSG00000027882
AA Change: F40L

DomainStartEndE-ValueType
Pfam:Sec1 32 114 2e-17 PFAM
Predicted Effect unknown
Transcript: ENSMUST00000196679
AA Change: F34L
Predicted Effect noncoding transcript
Transcript: ENSMUST00000200035
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: 33 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adhfe1 A T 1: 9,549,952 probably benign Het
Atp6v0a2 T C 5: 124,712,361 probably null Het
Brca1 G T 11: 101,512,711 probably benign Het
Cd55 A T 1: 130,440,371 C372S probably benign Het
Clip2 A T 5: 134,498,082 probably benign Het
Dgkb A G 12: 38,136,616 N262D probably damaging Het
Fam227b C T 2: 126,124,579 probably null Het
Foxj2 G A 6: 122,833,007 probably null Het
Gm4297 T A X: 24,552,571 probably benign Het
Grik3 A G 4: 125,659,762 D429G probably benign Het
Hcfc1 T C X: 73,951,329 I924V possibly damaging Het
Lrrk1 A G 7: 66,306,894 V411A probably damaging Het
Mdh1 A T 11: 21,564,168 V83E probably damaging Het
Pa2g4 A G 10: 128,565,778 V17A probably damaging Het
Podnl1 G A 8: 84,132,189 V548I probably benign Het
Polg A G 7: 79,451,722 V1079A probably damaging Het
Polr2a G T 11: 69,747,281 probably null Het
Ptk2 C T 15: 73,236,216 S722N probably damaging Het
Rock2 A G 12: 16,975,507 D1243G probably benign Het
Sirt4 T C 5: 115,483,002 D37G probably benign Het
Slc35d1 T C 4: 103,184,888 Y249C probably damaging Het
Snrnp27 A T 6: 86,682,986 probably null Het
Srek1 T C 13: 103,744,935 probably null Het
Sspo A T 6: 48,477,582 I2951F probably benign Het
Sympk T C 7: 19,044,996 V604A possibly damaging Het
Tbc1d2b T C 9: 90,222,457 Y544C probably damaging Het
Tnpo2 C T 8: 85,051,718 T592I possibly damaging Het
Txndc16 T C 14: 45,151,484 probably benign Het
Ubr5 A T 15: 38,045,720 L120Q probably damaging Het
Wdfy4 A T 14: 33,125,887 M836K probably damaging Het
Wdr48 A G 9: 119,912,413 N141S probably benign Het
Zc3h7a A T 16: 11,162,664 Y28* probably null Het
Zfp423 T C 8: 87,781,676 D659G possibly damaging 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
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 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
X0020:Stxbp3 UTSW 3 108793847 missense probably damaging 1.00
Posted On2016-08-02