Incidental Mutation 'IGL00820:Stxbp6'
ID 14294
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Stxbp6
Ensembl Gene ENSMUSG00000046314
Gene Name syntaxin binding protein 6 (amisyn)
Synonyms
Accession Numbers
Essential gene? Probably non essential (E-score: 0.081) question?
Stock # IGL00820
Quality Score
Status
Chromosome 12
Chromosomal Location 44899267-45121248 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 44908129 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Isoleucine at position 163 (T163I)
Ref Sequence ENSEMBL: ENSMUSP00000112551 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000053768] [ENSMUST00000120531]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000053768
AA Change: T163I

PolyPhen 2 Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000052639
Gene: ENSMUSG00000046314
AA Change: T163I

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: T163I

PolyPhen 2 Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000112551
Gene: ENSMUSG00000046314
AA Change: T163I

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: 24 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcg3 T A 5: 105,083,878 (GRCm39) I631F probably benign Het
Baiap3 T C 17: 25,467,664 (GRCm39) D314G probably benign Het
Ccl1 T C 11: 82,068,914 (GRCm39) E41G possibly damaging Het
Ephx1 T C 1: 180,827,386 (GRCm39) Y89C possibly damaging Het
Fbxw18 G A 9: 109,522,437 (GRCm39) T144I probably damaging Het
Galt C T 4: 41,758,570 (GRCm39) A357V probably benign Het
Gfra1 T C 19: 58,252,337 (GRCm39) probably benign Het
Hivep1 A T 13: 42,337,294 (GRCm39) I2458L probably benign Het
Itga8 A G 2: 12,237,703 (GRCm39) V339A possibly damaging Het
Klk1b8 T C 7: 43,604,210 (GRCm39) I226T probably benign Het
Mfsd6 C T 1: 52,747,465 (GRCm39) V467M probably damaging Het
Mrpl16 T C 19: 11,751,777 (GRCm39) V179A probably benign Het
Or52e19b G A 7: 103,032,672 (GRCm39) T179I probably damaging Het
Pnpla6 A G 8: 3,582,358 (GRCm39) T693A possibly damaging Het
Ptpn2 A C 18: 67,808,862 (GRCm39) I318R possibly damaging Het
Slc34a1 A G 13: 24,003,317 (GRCm39) H285R probably benign Het
Slit2 G A 5: 48,146,493 (GRCm39) E95K possibly damaging Het
Spmip6 A T 4: 41,507,178 (GRCm39) L206Q probably damaging Het
Sptb A G 12: 76,679,251 (GRCm39) L68P probably damaging Het
Tex15 A G 8: 34,069,034 (GRCm39) probably benign Het
Tti1 T C 2: 157,850,888 (GRCm39) E117G probably damaging Het
Ube4b T C 4: 149,437,378 (GRCm39) probably benign Het
Wipi1 A C 11: 109,473,945 (GRCm39) probably benign Het
Zan A T 5: 137,384,626 (GRCm39) C5133S unknown Het
Other mutations in Stxbp6
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02067:Stxbp6 APN 12 44,908,081 (GRCm39) missense probably damaging 1.00
IGL02120:Stxbp6 APN 12 44,948,831 (GRCm39) unclassified probably benign
IGL02186:Stxbp6 APN 12 44,948,806 (GRCm39) missense probably damaging 1.00
R0417:Stxbp6 UTSW 12 44,949,740 (GRCm39) missense probably damaging 1.00
R1772:Stxbp6 UTSW 12 44,949,653 (GRCm39) missense probably damaging 0.97
R1990:Stxbp6 UTSW 12 44,902,640 (GRCm39) nonsense probably null
R3939:Stxbp6 UTSW 12 44,949,641 (GRCm39) critical splice donor site probably null
R3942:Stxbp6 UTSW 12 44,949,641 (GRCm39) critical splice donor site probably null
R6614:Stxbp6 UTSW 12 44,908,058 (GRCm39) missense probably benign 0.11
R6787:Stxbp6 UTSW 12 44,949,779 (GRCm39) splice site probably null
R7162:Stxbp6 UTSW 12 44,949,663 (GRCm39) missense probably benign 0.13
R7264:Stxbp6 UTSW 12 44,948,782 (GRCm39) missense probably damaging 1.00
R7275:Stxbp6 UTSW 12 44,948,786 (GRCm39) missense probably benign 0.00
R7694:Stxbp6 UTSW 12 44,948,810 (GRCm39) missense probably damaging 0.97
R8474:Stxbp6 UTSW 12 44,949,704 (GRCm39) missense possibly damaging 0.54
R9328:Stxbp6 UTSW 12 44,902,659 (GRCm39) missense probably damaging 1.00
R9507:Stxbp6 UTSW 12 45,066,360 (GRCm39) missense probably benign 0.00
R9668:Stxbp6 UTSW 12 44,949,740 (GRCm39) missense probably damaging 0.99
Posted On 2012-12-06