Incidental Mutation 'R9507:Stxbp6'
ID 717893
Institutional Source Beutler Lab
Gene Symbol Stxbp6
Ensembl Gene ENSMUSG00000046314
Gene Name syntaxin binding protein 6 (amisyn)
Synonyms
MMRRC Submission
Accession Numbers
Essential gene? Probably non essential (E-score: 0.079) question?
Stock # R9507 (G1)
Quality Score 225.009
Status Not validated
Chromosome 12
Chromosomal Location 44899267-45121248 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 45066360 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Proline at position 15 (L15P)
Ref Sequence ENSEMBL: ENSMUSP00000112551 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000053768] [ENSMUST00000120531] [ENSMUST00000139750] [ENSMUST00000143376]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000053768
AA Change: L15P

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000052639
Gene: ENSMUSG00000046314
AA Change: L15P

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: L15P

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000112551
Gene: ENSMUSG00000046314
AA Change: L15P

DomainStartEndE-ValueType
Sec3-PIP2_bind 41 133 1.79e-36 SMART
Pfam:Synaptobrevin 153 210 2.1e-9 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000139750
AA Change: L15P

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
Predicted Effect probably benign
Transcript: ENSMUST00000143376
AA Change: L15P

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000117366
Gene: ENSMUSG00000046314
AA Change: L15P

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: 98.8%
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: 53 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1810009A15Rik A G 19: 8,866,587 (GRCm39) T47A probably damaging Het
Acsm2 A T 7: 119,179,939 (GRCm39) I386F probably benign Het
Actn4 A T 7: 28,606,397 (GRCm39) D305E probably benign Het
Anln A G 9: 22,274,136 (GRCm39) V567A probably damaging Het
Arhgap35 A G 7: 16,297,343 (GRCm39) I574T probably benign Het
Baz1b C A 5: 135,233,971 (GRCm39) S166Y probably damaging Het
Ccdc191 T C 16: 43,764,192 (GRCm39) L551P probably damaging Het
Cdk5rap2 T C 4: 70,210,110 (GRCm39) T713A probably benign Het
Cep290 C A 10: 100,330,785 (GRCm39) A155E possibly damaging Het
Chst8 G A 7: 34,447,496 (GRCm39) Q41* probably null Het
Cyp2j6 C A 4: 96,406,344 (GRCm39) E476* probably null Het
Des T C 1: 75,343,434 (GRCm39) V439A probably benign Het
Dimt1 A G 13: 107,093,656 (GRCm39) T283A probably benign Het
Dmxl1 T A 18: 50,024,567 (GRCm39) V1747D possibly damaging Het
Fhod1 G A 8: 106,064,694 (GRCm39) R137* probably null Het
Gab2 A T 7: 96,953,448 (GRCm39) D608V probably damaging Het
Gdpd1 T C 11: 86,950,264 (GRCm39) D103G possibly damaging Het
Hspa5 T C 2: 34,664,610 (GRCm39) S355P probably benign Het
Ide A T 19: 37,265,536 (GRCm39) F619L Het
Ifrd1 A C 12: 40,267,225 (GRCm39) D70E probably benign Het
Il18r1 T A 1: 40,513,884 (GRCm39) V30E probably damaging Het
Itpr3 G A 17: 27,337,651 (GRCm39) probably benign Het
Kcng1 A G 2: 168,111,152 (GRCm39) L4S probably damaging Het
Lrfn4 A G 19: 4,664,357 (GRCm39) F59S probably damaging Het
Lrrc15 T C 16: 30,092,829 (GRCm39) D170G probably damaging Het
Mettl21e T A 1: 44,245,536 (GRCm39) M237L probably benign Het
Myh1 A G 11: 67,102,049 (GRCm39) K810E probably benign Het
Nbea T C 3: 55,573,011 (GRCm39) D2524G probably damaging Het
Nicn1 C T 9: 108,171,708 (GRCm39) R163C possibly damaging Het
Nutm2 A T 13: 50,621,455 (GRCm39) T7S probably benign Het
Or10g3b A T 14: 52,586,678 (GRCm39) L275H probably damaging Het
Or2a5 G T 6: 42,873,835 (GRCm39) C150F probably benign Het
Or2t49 T C 11: 58,392,576 (GRCm39) T275A possibly damaging Het
Or51q1 T G 7: 103,629,198 (GRCm39) F266L probably damaging Het
Or6k2 T A 1: 173,986,552 (GRCm39) I71K possibly damaging Het
Or7a39 A G 10: 78,715,597 (GRCm39) H197R probably benign Het
Pate4 A G 9: 35,519,538 (GRCm39) S51P probably damaging Het
Rbm19 T C 5: 120,265,232 (GRCm39) probably null Het
Rnf139 A G 15: 58,770,664 (GRCm39) K230E probably damaging Het
Rpia G A 6: 70,754,377 (GRCm39) Q134* probably null Het
Rsf1 GC GCGGCGGCGCC 7: 97,229,141 (GRCm39) probably benign Het
Sbk2 G A 7: 4,960,277 (GRCm39) P298S possibly damaging Het
Scrt1 A G 15: 76,403,292 (GRCm39) S233P unknown Het
Sh2b1 CGGGGACCAGCTC CGGGGACCAGCTCAGCCAAGGGGACCAGCTC 7: 126,066,760 (GRCm39) probably benign Het
Sppl2c T A 11: 104,078,153 (GRCm39) Y318N probably benign Het
St6galnac4 G A 2: 32,485,739 (GRCm39) W215* probably null Het
Tmem104 T C 11: 115,091,699 (GRCm39) L74P probably damaging Het
Tnfrsf10b A G 14: 70,015,221 (GRCm39) D233G probably benign Het
Trmt11 A C 10: 30,434,938 (GRCm39) Y369* probably null Het
Tusc1 T A 4: 93,223,245 (GRCm39) H138L probably benign Het
Ush2a T A 1: 188,596,937 (GRCm39) Y3892* probably null Het
Xirp2 A T 2: 67,344,280 (GRCm39) I2174F possibly damaging Het
Zfp947 C T 17: 22,364,582 (GRCm39) G364D 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
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
R9668:Stxbp6 UTSW 12 44,949,740 (GRCm39) missense probably damaging 0.99
Predicted Primers PCR Primer
(F):5'- TGCAGAAACTCTTCAGGGGC -3'
(R):5'- GTGCAACATGAAGAGCTGGC -3'

Sequencing Primer
(F):5'- GGAAGACTGAACTTAGCATCTCATC -3'
(R):5'- CTGGCTATGAACGATTCTGGAACTC -3'
Posted On 2022-07-18