Incidental Mutation 'IGL02120:Stxbp6'
ID 280577
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Stxbp6
Ensembl Gene ENSMUSG00000046314
Gene Name syntaxin binding protein 6 (amisyn)
Synonyms
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.093) question?
Stock # IGL02120
Quality Score
Status
Chromosome 12
Chromosomal Location 44852484-45074709 bp(-) (GRCm38)
Type of Mutation unclassified
DNA Base Change (assembly) G to T at 44902048 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000117366 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000053768] [ENSMUST00000120531] [ENSMUST00000143376]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000053768
SMART Domains Protein: ENSMUSP00000052639
Gene: ENSMUSG00000046314

DomainStartEndE-ValueType
Sec3-PIP2_bind 41 133 1.79e-36 SMART
Pfam:Synaptobrevin 153 210 2e-9 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000120531
SMART Domains Protein: ENSMUSP00000112551
Gene: ENSMUSG00000046314

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
Predicted Effect probably benign
Transcript: ENSMUST00000143376
SMART Domains Protein: ENSMUSP00000117366
Gene: ENSMUSG00000046314

DomainStartEndE-ValueType
Pfam:Sec3-PIP2_bind 41 89 3.8e-14 PFAM
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: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700012P22Rik C T 4: 144,418,411 R195H probably benign Het
Abcb11 T C 2: 69,257,310 Y1037C probably damaging Het
Aldh16a1 G A 7: 45,146,035 P400L probably damaging Het
Ankrd33b T C 15: 31,367,056 T113A possibly damaging Het
Aox3 T A 1: 58,127,650 N177K probably benign Het
Arhgap29 T A 3: 122,004,257 V532E probably benign Het
Brd8 C T 18: 34,602,727 S899N probably damaging Het
Caskin1 G T 17: 24,500,942 G401V probably damaging Het
Cemip A T 7: 83,951,563 M950K probably damaging Het
Chrd T C 16: 20,734,541 V211A probably damaging Het
Ckap2l T C 2: 129,285,622 N212S possibly damaging Het
Clip1 T C 5: 123,647,883 D246G probably damaging Het
Dlst T C 12: 85,118,568 S82P probably benign Het
Dmxl1 T A 18: 49,894,178 L2118M possibly damaging Het
Dnah7a T C 1: 53,495,717 K2795E possibly damaging Het
Enpp5 T A 17: 44,080,845 M55K probably benign Het
Epdr1 A T 13: 19,594,471 S50T probably damaging Het
Gm6169 G T 13: 97,098,777 probably benign Het
Gm7808 T A 9: 19,928,017 probably benign Het
Huwe1 T A X: 151,907,390 F2485I possibly damaging Het
Kcnb2 C T 1: 15,709,861 T319M probably damaging Het
Lama1 G A 17: 67,716,789 V60M probably damaging Het
Lingo3 A T 10: 80,835,859 L79Q probably damaging Het
Magi2 T A 5: 20,228,453 probably null Het
Mob2 C A 7: 142,010,298 V33L possibly damaging Het
Mus81 G A 19: 5,485,633 probably benign Het
Nup210l G A 3: 90,136,862 G490D probably damaging Het
Olfr702 A C 7: 106,823,698 V276G possibly damaging Het
Pbp2 A G 6: 135,309,818 V177A probably damaging Het
Pomt2 T C 12: 87,111,552 D656G probably benign Het
Ppp2r1b A G 9: 50,861,769 probably benign Het
Ptprq T C 10: 107,667,472 E775G probably damaging Het
Rad54l T C 4: 116,098,984 I549V probably benign Het
Ranbp10 T C 8: 105,805,582 Y145C probably damaging Het
Runx1t1 A T 4: 13,846,884 T223S probably benign Het
Syne2 A G 12: 75,946,706 D2085G probably damaging Het
Szt2 C T 4: 118,388,564 R1064Q probably benign Het
Taar3 A G 10: 23,950,167 T204A probably benign Het
Tdpoz1 A G 3: 93,670,443 S345P probably damaging Het
Tgm4 T A 9: 123,046,529 I149N probably damaging Het
Tubal3 T A 13: 3,930,675 I129N probably damaging Het
Vegfc T C 8: 54,181,401 F372L possibly damaging Het
Vmn2r9 G A 5: 108,843,636 L620F probably damaging Het
Vwf C A 6: 125,616,034 L786M probably benign Het
Other mutations in Stxbp6
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00820:Stxbp6 APN 12 44861346 missense probably damaging 0.97
IGL02067:Stxbp6 APN 12 44861298 missense probably damaging 1.00
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
R8474:Stxbp6 UTSW 12 44902921 missense possibly damaging 0.54
R9328:Stxbp6 UTSW 12 44855876 missense probably damaging 1.00
R9507:Stxbp6 UTSW 12 45019577 missense probably benign 0.00
R9668:Stxbp6 UTSW 12 44902957 missense probably damaging 0.99
Posted On 2015-04-16