Incidental Mutation 'IGL02487:Stx3'
ID 295455
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Stx3
Ensembl Gene ENSMUSG00000041488
Gene Name syntaxin 3
Synonyms syntaxin 3A, Syn-3, syntaxin 3B
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL02487
Quality Score
Status
Chromosome 19
Chromosomal Location 11752482-11796767 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 11760469 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 236 (V236A)
Ref Sequence ENSEMBL: ENSMUSP00000069529 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000047698] [ENSMUST00000069285] [ENSMUST00000075304] [ENSMUST00000211047] [ENSMUST00000211641]
AlphaFold Q64704
Predicted Effect probably benign
Transcript: ENSMUST00000047698
SMART Domains Protein: ENSMUSP00000037317
Gene: ENSMUSG00000041488

DomainStartEndE-ValueType
SynN 27 146 5.39e-41 SMART
t_SNARE 186 253 1.07e-19 SMART
transmembrane domain 265 286 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000069285
AA Change: V236A

PolyPhen 2 Score 0.957 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000069529
Gene: ENSMUSG00000041488
AA Change: V236A

DomainStartEndE-ValueType
SynN 27 146 5.39e-41 SMART
t_SNARE 186 253 6.87e-18 SMART
transmembrane domain 264 286 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000075304
SMART Domains Protein: ENSMUSP00000074776
Gene: ENSMUSG00000041488

DomainStartEndE-ValueType
SynN 27 128 1.13e-16 SMART
t_SNARE 168 235 1.07e-19 SMART
transmembrane domain 247 268 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000210481
Predicted Effect possibly damaging
Transcript: ENSMUST00000211047
AA Change: V236A

PolyPhen 2 Score 0.956 (Sensitivity: 0.79; Specificity: 0.95)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000211089
Predicted Effect probably benign
Transcript: ENSMUST00000211641
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The gene is a member of the syntaxin family. The encoded protein is targeted to the apical membrane of epithelial cells where it forms clusters and is important in establishing and maintaining polarity necessary for protein trafficking involving vesicle fusion and exocytosis. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2010]
Allele List at MGI
Other mutations in this stock
Total: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acsl6 T A 11: 54,227,769 (GRCm39) I308N possibly damaging Het
Adal C T 2: 120,985,877 (GRCm39) T204I probably benign Het
Akirin1 A G 4: 123,637,357 (GRCm39) F76S probably benign Het
Arhgef5 A T 6: 43,260,916 (GRCm39) N1447I probably damaging Het
Atp2a3 C A 11: 72,866,165 (GRCm39) H262N probably benign Het
B230217C12Rik A G 11: 97,733,054 (GRCm39) N125S probably benign Het
Dcaf11 G T 14: 55,806,571 (GRCm39) K457N probably benign Het
Dnah10 G A 5: 124,870,916 (GRCm39) V2348M possibly damaging Het
Eif4g3 T C 4: 137,930,689 (GRCm39) V1665A possibly damaging Het
Fat4 A T 3: 38,941,394 (GRCm39) I96F probably damaging Het
Gm29253 T C 1: 75,149,321 (GRCm39) probably null Het
Gvin-ps6 A G 7: 106,022,471 (GRCm39) noncoding transcript Het
Hnrnpm C A 17: 33,867,787 (GRCm39) G676C probably damaging Het
Iah1 T C 12: 21,371,440 (GRCm39) M185T probably damaging Het
Klc1 A T 12: 111,738,886 (GRCm39) I45F probably damaging Het
Lce1h G A 3: 92,671,048 (GRCm39) P35S unknown Het
Lrrc37a T C 11: 103,386,863 (GRCm39) E2419G unknown Het
Lrrc8c T A 5: 105,754,457 (GRCm39) S77R probably benign Het
Mcm3ap T A 10: 76,343,389 (GRCm39) probably benign Het
Mon1b G T 8: 114,365,455 (GRCm39) R261L possibly damaging Het
Ntng1 A T 3: 109,842,363 (GRCm39) S137T probably damaging Het
Odf2 C A 2: 29,810,851 (GRCm39) A578E possibly damaging Het
Pecam1 G A 11: 106,562,606 (GRCm39) T698I probably damaging Het
Pex10 A T 4: 155,155,190 (GRCm39) H288L probably damaging Het
Pkhd1l1 T C 15: 44,322,822 (GRCm39) V36A possibly damaging Het
Podxl T C 6: 31,499,957 (GRCm39) *504W probably null Het
Rab42 A G 4: 132,029,614 (GRCm39) S203P probably benign Het
Rsf1 T C 7: 97,288,698 (GRCm39) S192P probably damaging Het
Scap C T 9: 110,207,758 (GRCm39) T489I probably benign Het
Sost C A 11: 101,857,633 (GRCm39) R56L possibly damaging Het
Speer4a3 T A 5: 26,156,605 (GRCm39) I125F probably benign Het
Spmip10 T A 18: 56,727,571 (GRCm39) W90R possibly damaging Het
Sptbn4 A G 7: 27,118,522 (GRCm39) V264A probably damaging Het
Syt2 T C 1: 134,668,603 (GRCm39) F5S probably damaging Het
Thrap3 T C 4: 126,060,794 (GRCm39) D855G possibly damaging Het
Ticrr T C 7: 79,332,769 (GRCm39) V874A possibly damaging Het
Tmem26 A G 10: 68,614,563 (GRCm39) E326G probably benign Het
Tsga13 A T 6: 30,884,362 (GRCm39) Y119N probably damaging Het
Tspoap1 C T 11: 87,653,342 (GRCm39) T136I possibly damaging Het
Ttc21b T C 2: 66,065,500 (GRCm39) T425A probably benign Het
Ttc27 A G 17: 75,163,549 (GRCm39) Y719C probably damaging Het
Usp10 C A 8: 120,675,514 (GRCm39) S511Y probably damaging Het
Vmn1r197 A G 13: 22,512,792 (GRCm39) M238V probably damaging Het
Other mutations in Stx3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01012:Stx3 APN 19 11,769,152 (GRCm39) missense probably damaging 0.99
IGL01578:Stx3 APN 19 11,763,969 (GRCm39) missense probably damaging 1.00
IGL02086:Stx3 APN 19 11,796,046 (GRCm39) splice site probably benign
R0124:Stx3 UTSW 19 11,769,163 (GRCm39) missense possibly damaging 0.83
R0573:Stx3 UTSW 19 11,763,110 (GRCm39) missense probably damaging 1.00
R1739:Stx3 UTSW 19 11,762,887 (GRCm39) missense probably damaging 1.00
R2869:Stx3 UTSW 19 11,766,938 (GRCm39) missense probably damaging 0.99
R2869:Stx3 UTSW 19 11,766,938 (GRCm39) missense probably damaging 0.99
R2870:Stx3 UTSW 19 11,766,938 (GRCm39) missense probably damaging 0.99
R2870:Stx3 UTSW 19 11,766,938 (GRCm39) missense probably damaging 0.99
R2874:Stx3 UTSW 19 11,766,938 (GRCm39) missense probably damaging 0.99
R4864:Stx3 UTSW 19 11,754,515 (GRCm39) missense possibly damaging 0.79
R6156:Stx3 UTSW 19 11,780,874 (GRCm39) missense probably damaging 1.00
R7298:Stx3 UTSW 19 11,767,412 (GRCm39) nonsense probably null
R7443:Stx3 UTSW 19 11,769,208 (GRCm39) missense possibly damaging 0.72
Posted On 2015-04-16