Incidental Mutation 'IGL02067:Stxbp6'
ID185684
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Stxbp6
Ensembl Gene ENSMUSG00000046314
Gene Namesyntaxin binding protein 6 (amisyn)
Synonyms
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.094) question?
Stock #IGL02067
Quality Score
Status
Chromosome12
Chromosomal Location44852484-45074709 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to T at 44861298 bp
ZygosityHeterozygous
Amino Acid Change Arginine to Glutamine at position 179 (R179Q)
Ref Sequence ENSEMBL: ENSMUSP00000112551 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000053768] [ENSMUST00000120531]
Predicted Effect probably damaging
Transcript: ENSMUST00000053768
AA Change: R179Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000052639
Gene: ENSMUSG00000046314
AA Change: R179Q

DomainStartEndE-ValueType
Sec3-PIP2_bind 41 133 1.79e-36 SMART
Pfam:Synaptobrevin 153 210 2e-9 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000120531
AA Change: R179Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000112551
Gene: ENSMUSG00000046314
AA Change: R179Q

DomainStartEndE-ValueType
Sec3-PIP2_bind 41 133 1.79e-36 SMART
Pfam:Synaptobrevin 153 210 2.1e-9 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000130202
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] STXBP6 binds components of the SNARE complex (see MIM 603215) and may be involved in regulating SNARE complex formation (Scales et al., 2002 [PubMed 12145319]).[supplied by OMIM, Mar 2008]
Allele List at MGI
Other mutations in this stock
Total: 27 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700028K03Rik C T 5: 107,543,950 R36* probably null Het
Aplp2 T A 9: 31,150,895 K688N probably damaging Het
Arhgef28 G T 13: 98,077,317 Q13K probably damaging Het
Brd8 C T 18: 34,602,727 S899N probably damaging Het
Chrna6 A G 8: 27,404,396 S494P probably damaging Het
Clcc1 T A 3: 108,668,721 L195H probably damaging Het
Coq3 A G 4: 21,900,397 E208G probably benign Het
Dock4 T G 12: 40,834,385 S1684A probably damaging Het
Duoxa2 G A 2: 122,300,591 V78M possibly damaging Het
Fam189b C T 3: 89,188,596 R545* probably null Het
Fam8a1 G T 13: 46,669,848 R88L possibly damaging Het
Ganc A G 2: 120,406,304 D23G probably benign Het
Gm14305 A T 2: 176,719,317 E53D probably damaging Het
Ing5 T A 1: 93,811,926 L58Q probably damaging Het
Klrb1-ps1 A G 6: 129,129,388 D164G probably damaging Het
Lama2 G A 10: 27,176,796 T1389M probably benign Het
Lrp6 A T 6: 134,480,396 I815K probably damaging Het
Nek10 A G 14: 14,861,639 D565G probably benign Het
Opa1 A G 16: 29,616,655 E641G probably damaging Het
Rbm44 T C 1: 91,152,845 S252P probably damaging Het
Sbf1 A G 15: 89,289,044 V1810A probably damaging Het
Sh3pxd2b T C 11: 32,423,095 V754A probably benign Het
Slc27a6 A G 18: 58,612,191 T566A probably benign Het
Supt6 T A 11: 78,231,157 Y223F probably benign Het
Tdrd6 T C 17: 43,628,209 I649M probably damaging Het
Tecrl A T 5: 83,284,275 C258S probably benign Het
Zfp128 T C 7: 12,885,050 I74T possibly damaging Het
Other mutations in Stxbp6
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00820:Stxbp6 APN 12 44861346 missense probably damaging 0.97
IGL02120:Stxbp6 APN 12 44902048 unclassified probably benign
IGL02186:Stxbp6 APN 12 44902023 missense probably damaging 1.00
R0417:Stxbp6 UTSW 12 44902957 missense probably damaging 1.00
R1772:Stxbp6 UTSW 12 44902870 missense probably damaging 0.97
R1990:Stxbp6 UTSW 12 44855857 nonsense probably null
R3939:Stxbp6 UTSW 12 44902858 critical splice donor site probably null
R3942:Stxbp6 UTSW 12 44902858 critical splice donor site probably null
R6614:Stxbp6 UTSW 12 44861275 missense probably benign 0.11
R6787:Stxbp6 UTSW 12 44902996 splice site probably null
R7162:Stxbp6 UTSW 12 44902880 missense probably benign 0.13
R7264:Stxbp6 UTSW 12 44901999 missense probably damaging 1.00
R7275:Stxbp6 UTSW 12 44902003 missense probably benign 0.00
R7694:Stxbp6 UTSW 12 44902027 missense probably damaging 0.97
Posted On2014-05-07