Incidental Mutation 'R6614:Stxbp6'
ID 523856
Institutional Source Beutler Lab
Gene Symbol Stxbp6
Ensembl Gene ENSMUSG00000046314
Gene Name syntaxin binding protein 6 (amisyn)
Synonyms
MMRRC Submission 044737-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.079) question?
Stock # R6614 (G1)
Quality Score 225.009
Status Validated
Chromosome 12
Chromosomal Location 44899267-45121248 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 44908058 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Serine at position 187 (T187S)
Ref Sequence ENSEMBL: ENSMUSP00000112551 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000053768] [ENSMUST00000120531]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000053768
AA Change: T187S

PolyPhen 2 Score 0.110 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000052639
Gene: ENSMUSG00000046314
AA Change: T187S

DomainStartEndE-ValueType
Sec3-PIP2_bind 41 133 1.79e-36 SMART
Pfam:Synaptobrevin 153 210 2e-9 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000120531
AA Change: T187S

PolyPhen 2 Score 0.110 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000112551
Gene: ENSMUSG00000046314
AA Change: T187S

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
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.0%
  • 20x: 94.3%
Validation Efficiency 98% (46/47)
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: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2810004N23Rik T A 8: 125,587,986 (GRCm39) probably null Het
Abca13 A T 11: 9,244,371 (GRCm39) N2078I probably benign Het
Abcc2 A G 19: 43,807,800 (GRCm39) I814V probably benign Het
Adamts4 A G 1: 171,084,193 (GRCm39) R557G probably benign Het
Bltp3a T A 17: 28,095,899 (GRCm39) I70N probably benign Het
Bysl A T 17: 47,912,767 (GRCm39) L341Q probably damaging Het
Csmd1 C T 8: 17,266,803 (GRCm39) G41D probably damaging Het
Dnah11 T C 12: 117,850,411 (GRCm39) D4221G possibly damaging Het
Dnah7c C A 1: 46,688,500 (GRCm39) T1890K probably benign Het
Dnah7c A G 1: 46,688,511 (GRCm39) S1894G probably benign Het
Dnajc21 A G 15: 10,470,349 (GRCm39) probably null Het
Elavl1 C A 8: 4,339,818 (GRCm39) A255S probably damaging Het
Filip1 C T 9: 79,723,121 (GRCm39) G1166D probably damaging Het
Gnptg T C 17: 25,454,235 (GRCm39) Y184C probably damaging Het
Ifit3b A T 19: 34,588,919 (GRCm39) S32C probably benign Het
Kcnh7 T G 2: 62,607,940 (GRCm39) Y547S probably damaging Het
Lima1 G A 15: 99,681,461 (GRCm39) A243V probably damaging Het
Mast3 T A 8: 71,234,610 (GRCm39) I67F possibly damaging Het
Ncor1 A C 11: 62,221,645 (GRCm39) M1283R probably benign Het
Ndufv1 G A 19: 4,058,749 (GRCm39) T253I probably benign Het
Neurog1 G T 13: 56,399,637 (GRCm39) Q37K probably benign Het
Nol4 T G 18: 23,053,913 (GRCm39) K200Q probably damaging Het
Obscn T C 11: 58,903,627 (GRCm39) H7599R probably benign Het
Oog4 A G 4: 143,164,445 (GRCm39) V362A possibly damaging Het
Oosp1 T A 19: 11,668,314 (GRCm39) D23V probably damaging Het
Or11a4 T C 17: 37,536,790 (GRCm39) V258A probably benign Het
Or11g24 C T 14: 50,662,546 (GRCm39) T190I probably benign Het
Or4k1 T A 14: 50,377,821 (GRCm39) I92F probably damaging Het
Or4n4b T A 14: 50,536,494 (GRCm39) I91L probably benign Het
Or7a41 C A 10: 78,870,925 (GRCm39) C98* probably null Het
P2rx3 A G 2: 84,865,543 (GRCm39) I34T probably damaging Het
Pate7 A G 9: 35,688,421 (GRCm39) W55R probably damaging Het
Pla2g4a A T 1: 149,717,986 (GRCm39) V621E probably benign Het
Prpf39 T G 12: 65,089,337 (GRCm39) V25G probably benign Het
Psd T C 19: 46,301,851 (GRCm39) K913E probably benign Het
Ptx4 A T 17: 25,341,676 (GRCm39) R50S possibly damaging Het
Rex2 A T 4: 147,137,018 (GRCm39) M16L probably benign Het
Serac1 A T 17: 6,095,937 (GRCm39) V604E probably damaging Het
Sp140l2 A C 1: 85,179,781 (GRCm39) probably null Het
Spata31h1 T A 10: 82,127,482 (GRCm39) N1843Y probably benign Het
Srsf11 C T 3: 157,728,981 (GRCm39) probably benign Het
Tg G A 15: 66,607,108 (GRCm39) C215Y probably damaging Het
Top2b A T 14: 16,407,142 (GRCm38) K671* probably null Het
Trmt1 G T 8: 85,415,962 (GRCm39) V7L probably benign Het
Ttn C T 2: 76,615,174 (GRCm39) R15102H probably benign Het
Unc79 A T 12: 102,957,689 (GRCm39) I35F probably damaging Het
Other mutations in Stxbp6
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00820:Stxbp6 APN 12 44,908,129 (GRCm39) missense probably damaging 0.97
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
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
Predicted Primers PCR Primer
(F):5'- AAGCTGCAAGGCTCTAGTAATTAG -3'
(R):5'- TCAGCTACCATCCACCTTGG -3'

Sequencing Primer
(F):5'- TGCAAGGCTCTAGTAATTAGAAAATG -3'
(R):5'- CCATCGTGTGGGTATCAATCTATCTG -3'
Posted On 2018-06-22