Incidental Mutation 'R3939:Stxbp6'
ID 308612
Institutional Source Beutler Lab
Gene Symbol Stxbp6
Ensembl Gene ENSMUSG00000046314
Gene Name syntaxin binding protein 6 (amisyn)
Synonyms
MMRRC Submission 040826-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.079) question?
Stock # R3939 (G1)
Quality Score 225
Status 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: 99.3%
  • 3x: 98.7%
  • 10x: 97.4%
  • 20x: 95.4%
Validation Efficiency 97% (37/38)
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: 36 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930567H17Rik C T X: 69,438,135 (GRCm39) A53T probably benign Het
Atp13a2 T C 4: 140,733,733 (GRCm39) S1041P probably damaging Het
Brinp3 C A 1: 146,627,599 (GRCm39) D277E probably damaging Het
Cacnb4 C A 2: 52,359,501 (GRCm39) R169L probably damaging Het
Col13a1 T C 10: 61,698,861 (GRCm39) I491V unknown Het
Corin T C 5: 72,497,222 (GRCm39) D531G possibly damaging Het
Cx3cr1 C T 9: 119,880,710 (GRCm39) V231I probably benign Het
Dennd4c T G 4: 86,692,517 (GRCm39) V9G probably damaging Het
Dysf G A 6: 84,163,491 (GRCm39) probably null Het
Faf1 T G 4: 109,719,076 (GRCm39) L394R probably damaging Het
Fgfr4 G A 13: 55,304,307 (GRCm39) D116N probably null Het
Flt3 A G 5: 147,293,053 (GRCm39) Y518H possibly damaging Het
Frem3 T C 8: 81,341,649 (GRCm39) I1314T possibly damaging Het
Gk2 T A 5: 97,603,211 (GRCm39) L542F possibly damaging Het
Gm4922 T A 10: 18,660,362 (GRCm39) E120V probably damaging Het
Hip1 A T 5: 135,457,618 (GRCm39) I285N probably benign Het
Kcnd2 C A 6: 21,217,095 (GRCm39) D266E probably damaging Het
Kdr C T 5: 76,133,089 (GRCm39) W63* probably null Het
Kit A G 5: 75,769,978 (GRCm39) D130G probably benign Het
Megf8 G A 7: 25,058,627 (GRCm39) V2208I probably benign Het
Neto2 G A 8: 86,400,747 (GRCm39) T16I probably damaging Het
Nktr T A 9: 121,578,135 (GRCm39) probably benign Het
Nrxn1 A G 17: 90,515,849 (GRCm39) I1207T probably damaging Het
Obox7 G A 7: 14,397,972 (GRCm39) G4D probably benign Het
Ogdh G A 11: 6,300,655 (GRCm39) W827* probably null Het
Or13g1 T C 7: 85,955,437 (GRCm39) M295V probably benign Het
Or4c118 T A 2: 88,974,474 (GRCm39) K298* probably null Het
Or4k15c A G 14: 50,321,173 (GRCm39) *322Q probably null Het
Pcdhga9 G A 18: 37,871,995 (GRCm39) R608H probably benign Het
Rin2 C T 2: 145,702,366 (GRCm39) T354I probably benign Het
Sbpl T A 17: 24,172,617 (GRCm39) I101L probably benign Het
Serpina9 T A 12: 103,975,151 (GRCm39) M1L probably benign Het
Synpo2 A G 3: 122,908,239 (GRCm39) V359A probably damaging Het
Ttyh1 T A 7: 4,132,317 (GRCm39) L155H probably damaging Het
Vil1 A G 1: 74,471,574 (GRCm39) D785G probably benign Het
Zfp345 G A 2: 150,314,473 (GRCm39) H355Y 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
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
Predicted Primers PCR Primer
(F):5'- TGGAGACAGCATCTTTCCATATG -3'
(R):5'- GAGGAAATCAGACAATGTACCTCCC -3'

Sequencing Primer
(F):5'- TCTCTTGGATTTCTCTATCAAACATG -3'
(R):5'- CACATCATTCGTCCGAAG -3'
Posted On 2015-04-17