Incidental Mutation 'R7264:Stxbp6'
ID 564825
Institutional Source Beutler Lab
Gene Symbol Stxbp6
Ensembl Gene ENSMUSG00000046314
Gene Name syntaxin binding protein 6 (amisyn)
Synonyms
MMRRC Submission 045354-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.079) question?
Stock # R7264 (G1)
Quality Score 225.009
Status Not validated
Chromosome 12
Chromosomal Location 44899267-45121248 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 44948782 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 109 (D109G)
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 damaging
Transcript: ENSMUST00000053768
AA Change: D109G

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000052639
Gene: ENSMUSG00000046314
AA Change: D109G

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: D109G

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000112551
Gene: ENSMUSG00000046314
AA Change: D109G

DomainStartEndE-ValueType
Sec3-PIP2_bind 41 133 1.79e-36 SMART
Pfam:Synaptobrevin 153 210 2.1e-9 PFAM
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
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.6%
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: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adora3 C A 3: 105,812,141 (GRCm39) T9K probably benign Het
Ankib1 T A 5: 3,805,739 (GRCm39) N176I probably damaging Het
Ankle2 G A 5: 110,385,689 (GRCm39) G346D probably damaging Het
Anks1b T A 10: 90,348,732 (GRCm39) M800K probably benign Het
Arhgef16 C T 4: 154,365,387 (GRCm39) G576D probably damaging Het
C2cd2 C A 16: 97,677,419 (GRCm39) probably null Het
Cacna1c T C 6: 118,579,156 (GRCm39) N1847S Het
Camta1 A G 4: 151,537,856 (GRCm39) I108T probably damaging Het
Catsper4 TTCTC TTC 4: 133,954,423 (GRCm39) probably null Het
Cep192 A G 18: 67,953,426 (GRCm39) Y481C probably damaging Het
Cep250 A G 2: 155,821,071 (GRCm39) E887G probably damaging Het
Clcn1 C A 6: 42,275,772 (GRCm39) A298D probably damaging Het
Col11a1 A G 3: 113,979,248 (GRCm39) N1305S unknown Het
Depdc5 T C 5: 33,125,089 (GRCm39) V1155A probably benign Het
Dnah1 A T 14: 30,991,851 (GRCm39) D3050E probably benign Het
Dnah7a T C 1: 53,557,973 (GRCm39) D2147G probably benign Het
Fbxl4 T C 4: 22,386,145 (GRCm39) Y251H possibly damaging Het
Gm19410 A G 8: 36,252,920 (GRCm39) M622V probably benign Het
Gm3402 T A 5: 146,451,472 (GRCm39) M110K probably damaging Het
Gm8257 T A 14: 44,893,817 (GRCm39) E82D probably damaging Het
Gne T A 4: 44,042,175 (GRCm39) I498F probably damaging Het
Grep1 A G 17: 23,931,308 (GRCm39) S200P not run Het
Gstcd C T 3: 132,790,540 (GRCm39) V76I probably benign Het
Hgs G T 11: 120,365,139 (GRCm39) V176L probably benign Het
Hrob T A 11: 102,146,422 (GRCm39) C233S probably benign Het
Igbp1b T C 6: 138,635,108 (GRCm39) N112S possibly damaging Het
Itga11 A T 9: 62,653,190 (GRCm39) T355S probably benign Het
Lama1 A T 17: 68,050,292 (GRCm39) H301L Het
Lhx9 T C 1: 138,760,489 (GRCm39) D296G probably damaging Het
Lrp1 C T 10: 127,427,962 (GRCm39) G537D probably damaging Het
Mroh2b A G 15: 4,950,844 (GRCm39) I581V possibly damaging Het
Mrps36 A G 13: 100,875,707 (GRCm39) S36P probably benign Het
Or52z13 T A 7: 103,246,955 (GRCm39) I144N probably damaging Het
Plcb4 A T 2: 135,807,000 (GRCm39) N547I probably benign Het
Plch2 T A 4: 155,083,424 (GRCm39) M505L probably damaging Het
Prg4 T A 1: 150,329,818 (GRCm39) N154Y not run Het
Rev1 A T 1: 38,124,682 (GRCm39) V420D probably damaging Het
Rin3 A G 12: 102,356,374 (GRCm39) I972V probably benign Het
Rtel1 T C 2: 180,993,654 (GRCm39) L775P not run Het
Scarf2 G T 16: 17,621,154 (GRCm39) C274F possibly damaging Het
Serinc2 C T 4: 130,152,052 (GRCm39) V271I probably benign Het
Slpi C A 2: 164,198,322 (GRCm39) probably benign Het
Spopfm1 C T 3: 94,173,045 (GRCm39) H14Y possibly damaging Het
Tmem74 G A 15: 43,730,864 (GRCm39) L60F probably benign Het
Trhde C T 10: 114,636,776 (GRCm39) G144S possibly damaging Het
Trrap T C 5: 144,751,333 (GRCm39) S1610P probably benign Het
Ttc33 C T 15: 5,246,718 (GRCm39) Q175* probably null Het
Usp34 A G 11: 23,283,566 (GRCm39) T106A probably benign Het
Vmn1r204 A G 13: 22,741,167 (GRCm39) D266G probably benign Het
Wdfy3 C A 5: 102,003,389 (GRCm39) A2905S probably benign Het
Wfs1 A G 5: 37,125,190 (GRCm39) L567P probably damaging Het
Zfp42 T C 8: 43,749,312 (GRCm39) E63G probably damaging Het
Zfp957 A G 14: 79,451,080 (GRCm39) F240L probably damaging Het
Zgrf1 A T 3: 127,357,218 (GRCm39) M815L probably benign 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
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
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'- GCCTTTGCCTCTAAATGTGGAG -3'
(R):5'- CCTGGTAGAGAAGAAATGTATGGTTC -3'

Sequencing Primer
(F):5'- CCTCTAAATGTGGAGGCATTTTG -3'
(R):5'- AGAAATGTATGGTTCATATCTTGGGG -3'
Posted On 2019-06-26