Incidental Mutation 'R3942:Stxbp6'
ID 312908
Institutional Source Beutler Lab
Gene Symbol Stxbp6
Ensembl Gene ENSMUSG00000046314
Gene Name syntaxin binding protein 6 (amisyn)
Synonyms
Accession Numbers
Essential gene? Probably non essential (E-score: 0.079) question?
Stock # R3942 (G1)
Quality Score 225
Status Not validated
Chromosome 12
Chromosomal Location 44899267-45121248 bp(-) (GRCm39)
Type of Mutation critical splice donor site (2 bp from exon)
DNA Base Change (assembly) A to G at 44949641 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000112551 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000053768] [ENSMUST00000120531] [ENSMUST00000143376]
AlphaFold no structure available at present
Predicted Effect probably null
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 null
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
Meta Mutation Damage Score 0.9495 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 94.9%
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: 26 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrv1 T C 13: 81,330,908 (GRCm39) N6049S probably damaging Het
Aph1a C T 3: 95,801,573 (GRCm39) R31W probably damaging Het
Atp10b T C 11: 43,063,581 (GRCm39) V172A probably damaging Het
Atp13a2 T C 4: 140,733,733 (GRCm39) S1041P probably damaging Het
Best3 T A 10: 116,824,579 (GRCm39) F15Y possibly damaging Het
Brinp3 C A 1: 146,627,599 (GRCm39) D277E probably damaging Het
Crb1 A C 1: 139,265,211 (GRCm39) L69R possibly damaging Het
Crcp T C 5: 130,063,791 (GRCm39) probably null Het
Dysf G A 6: 84,163,491 (GRCm39) probably null Het
Hps3 T C 3: 20,051,103 (GRCm39) Y859C probably damaging Het
Irx5 C A 8: 93,086,314 (GRCm39) N132K probably damaging Het
Itgb2 A G 10: 77,393,867 (GRCm39) T436A probably benign Het
Kit A G 5: 75,769,978 (GRCm39) D130G probably benign Het
Krt12 A G 11: 99,312,922 (GRCm39) S41P unknown Het
Lypd6b G T 2: 49,833,552 (GRCm39) S64I probably damaging Het
Mpc1 T A 17: 8,507,420 (GRCm39) probably null Het
Or4c109 T A 2: 88,818,455 (GRCm39) L30F probably benign Het
Or5b95 A T 19: 12,657,768 (GRCm39) M99L probably benign Het
Pard3b T A 1: 62,198,611 (GRCm39) I233N probably damaging Het
Pcdh1 A G 18: 38,332,511 (GRCm39) V164A probably benign Het
Pclo A G 5: 14,729,932 (GRCm39) probably benign Het
Pkhd1l1 T C 15: 44,455,422 (GRCm39) probably null Het
Slco1a7 A G 6: 141,673,440 (GRCm39) I366T probably damaging Het
Spata31d1d T C 13: 59,875,276 (GRCm39) Q753R probably benign Het
Trav6-5 T C 14: 53,728,838 (GRCm39) S32P probably benign Het
Zp3r A C 1: 130,504,791 (GRCm39) D470E possibly 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
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
Predicted Primers PCR Primer
(F):5'- TGGAGACAGCATCTTTCCATATG -3'
(R):5'- CAATGTACCTCCCCATTAATCTGAG -3'

Sequencing Primer
(F):5'- TCTCTTGGATTTCTCTATCAAACATG -3'
(R):5'- TCCACATCATTCGTCCGA -3'
Posted On 2015-04-30