Incidental Mutation 'R7298:Stx3'
ID 566829
Institutional Source Beutler Lab
Gene Symbol Stx3
Ensembl Gene ENSMUSG00000041488
Gene Name syntaxin 3
Synonyms syntaxin 3A, Syn-3, syntaxin 3B
MMRRC Submission 045402-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R7298 (G1)
Quality Score 225.009
Status Validated
Chromosome 19
Chromosomal Location 11752482-11796767 bp(-) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) C to T at 11767412 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tryptophan to Stop codon at position 87 (W87*)
Ref Sequence ENSEMBL: ENSMUSP00000147461 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000047698] [ENSMUST00000069285] [ENSMUST00000075304] [ENSMUST00000211047] [ENSMUST00000211641]
AlphaFold Q64704
Predicted Effect silent
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 benign
Transcript: ENSMUST00000069285
SMART Domains Protein: ENSMUSP00000069529
Gene: ENSMUSG00000041488

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 probably null
Transcript: ENSMUST00000211047
AA Change: W87*
Predicted Effect probably null
Transcript: ENSMUST00000211641
AA Change: E54K

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
Meta Mutation Damage Score 0.9756 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.2%
Validation Efficiency 96% (52/54)
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: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca14 A T 7: 119,807,106 (GRCm39) T51S probably benign Het
Abcc1 A G 16: 14,214,336 (GRCm39) D204G possibly damaging Het
Acaa1b C T 9: 118,980,915 (GRCm39) E172K probably benign Het
Adamts5 G A 16: 85,696,806 (GRCm39) T117I probably benign Het
Agmat A G 4: 141,474,275 (GRCm39) E52G possibly damaging Het
Alg9 C T 9: 50,690,361 (GRCm39) A121V probably damaging Het
Atf7ip2 T C 16: 10,027,032 (GRCm39) I100T possibly damaging Het
Calm2 T C 17: 87,750,165 (GRCm39) probably null Het
Cfap44 A T 16: 44,301,775 (GRCm39) M1838L probably benign Het
Cym A G 3: 107,127,009 (GRCm39) Y49H probably benign Het
Dchs1 G A 7: 105,404,338 (GRCm39) R2735* probably null Het
Dnajc6 T C 4: 101,463,808 (GRCm39) I187T probably benign Het
Fam151a G T 4: 106,592,725 (GRCm39) R69L possibly damaging Het
Gm4779 TCGGGGCCGGGGCCGGGGCCG TCGGGGCCGGGGCCGGGGCCGGGGCCG X: 100,837,777 (GRCm39) probably benign Het
Gm9922 C A 14: 101,966,961 (GRCm39) G97V unknown Het
Hacl1 A T 14: 31,338,443 (GRCm39) M378K probably damaging Het
Idh2 TCCCAGG T 7: 79,748,079 (GRCm39) probably benign Het
Ighv1-82 A T 12: 115,916,574 (GRCm39) I6N possibly damaging Het
Kctd19 A C 8: 106,109,616 (GRCm39) V942G probably benign Het
Lce1l C T 3: 92,757,483 (GRCm39) C125Y unknown Het
Mmp8 T C 9: 7,560,449 (GRCm39) F42S probably damaging Het
Myom2 T C 8: 15,148,411 (GRCm39) L529P probably damaging Het
Nectin3 A T 16: 46,268,759 (GRCm39) Y548N probably damaging Het
Olfml3 T C 3: 103,643,176 (GRCm39) K402E probably damaging Het
Or4c12b T C 2: 89,646,865 (GRCm39) F59S probably damaging Het
Or6aa1 T A 7: 86,044,131 (GRCm39) T192S probably damaging Het
Otof T A 5: 30,545,614 (GRCm39) I514F probably damaging Het
Pira12 T A 7: 3,898,264 (GRCm39) I353F possibly damaging Het
Plch1 G T 3: 63,623,458 (GRCm39) S603* probably null Het
Ppa1 T A 10: 61,502,691 (GRCm39) D171E probably benign Het
Pramel23 C A 4: 143,425,075 (GRCm39) D123Y probably benign Het
Prss34 T C 17: 25,518,737 (GRCm39) C240R probably damaging Het
Ptpre A G 7: 135,285,016 (GRCm39) D714G probably damaging Het
Ranbp9 A G 13: 43,633,936 (GRCm39) F157L probably benign Het
Rbbp6 A G 7: 122,600,417 (GRCm39) K1475E unknown Het
Retnlg A G 16: 48,693,237 (GRCm39) N5D probably benign Het
Rev1 T C 1: 38,092,185 (GRCm39) T1245A probably damaging Het
Rngtt G T 4: 33,362,927 (GRCm39) L360F probably damaging Het
Scrib A C 15: 75,936,610 (GRCm39) V447G probably damaging Het
Slc22a6 C A 19: 8,598,684 (GRCm39) A247E possibly damaging Het
Slc25a20 G A 9: 108,539,343 (GRCm39) probably benign Het
Spag16 T A 1: 69,958,585 (GRCm39) probably null Het
Syngap1 T A 17: 27,181,961 (GRCm39) M1158K possibly damaging Het
Tmed9 C A 13: 55,741,107 (GRCm39) H41N possibly damaging Het
Trav15-2-dv6-2 G A 14: 53,887,242 (GRCm39) S54N probably benign Het
Tyk2 C T 9: 21,020,156 (GRCm39) V1001I probably benign Het
Ugt8a A G 3: 125,709,065 (GRCm39) V15A probably benign Het
Uhrf2 A G 19: 30,065,949 (GRCm39) E661G probably benign Het
Vmn2r77 T A 7: 86,449,979 (GRCm39) I75N probably benign Het
Zfp346 T G 13: 55,278,416 (GRCm39) V258G probably damaging Het
Zfp87 T A 13: 74,520,513 (GRCm39) K188N possibly damaging Het
Zgrf1 C A 3: 127,377,299 (GRCm39) S848* probably null 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
IGL02487:Stx3 APN 19 11,760,469 (GRCm39) missense probably damaging 0.96
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
R7443:Stx3 UTSW 19 11,769,208 (GRCm39) missense possibly damaging 0.72
Predicted Primers PCR Primer
(F):5'- CTTCAGTGCTCATCTCAATGTG -3'
(R):5'- TTCCCACCATGAGTACAGTGC -3'

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