Incidental Mutation 'R2869:Stx3'
ID 253491
Institutional Source Beutler Lab
Gene Symbol Stx3
Ensembl Gene ENSMUSG00000041488
Gene Name syntaxin 3
Synonyms syntaxin 3A, Syn-3, syntaxin 3B
MMRRC Submission 040457-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R2869 (G1)
Quality Score 225
Status Not validated
Chromosome 19
Chromosomal Location 11752482-11796767 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 11766938 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Aspartic acid at position 91 (V91D)
Ref Sequence ENSEMBL: ENSMUSP00000074776 (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: V91D

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000069529
Gene: ENSMUSG00000041488
AA Change: V91D

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 damaging
Transcript: ENSMUST00000075304
AA Change: V91D

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000074776
Gene: ENSMUSG00000041488
AA Change: V91D

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 probably damaging
Transcript: ENSMUST00000211047
AA Change: V91D

PolyPhen 2 Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)
Predicted Effect probably damaging
Transcript: ENSMUST00000211641
AA Change: V73D

PolyPhen 2 Score 0.973 (Sensitivity: 0.76; Specificity: 0.96)
Meta Mutation Damage Score 0.3577 question?
Coding Region Coverage
  • 1x: 99.6%
  • 3x: 98.4%
  • 10x: 93.9%
  • 20x: 77.8%
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: 57 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Als2 A G 1: 59,250,296 (GRCm39) S483P probably damaging Het
Ccl27a C T 4: 41,769,640 (GRCm39) R73Q probably benign Het
Cd6 A G 19: 10,771,990 (GRCm39) I307T possibly damaging Het
Ch25h T A 19: 34,452,210 (GRCm39) H106L probably benign Het
Dennd2b A T 7: 109,156,637 (GRCm39) Y38N probably benign Het
Dhx57 A T 17: 80,558,805 (GRCm39) D1051E probably benign Het
Eef2 GCCC GCCCC 10: 81,014,601 (GRCm39) probably null Het
Eif4enif1 C T 11: 3,192,586 (GRCm39) P805S probably damaging Het
Fan1 A G 7: 64,012,938 (GRCm39) I668T probably benign Het
Frmpd4 A T X: 166,260,243 (GRCm39) D1166E probably benign Het
Gbp11 C T 5: 105,478,866 (GRCm39) D191N probably benign Het
Ggt6 A T 11: 72,328,187 (GRCm39) N229I probably benign Het
Gria2 G A 3: 80,609,799 (GRCm39) T670I probably damaging Het
Gsdme A T 6: 50,185,157 (GRCm39) C432* probably null Het
Hjurp GT GTT 1: 88,194,246 (GRCm39) probably null Het
Hmcn1 A T 1: 150,614,467 (GRCm39) V1313D possibly damaging Het
Kcnb1 A G 2: 166,947,855 (GRCm39) L331P probably damaging Het
Klf8 A T X: 152,165,678 (GRCm39) E82D probably damaging Het
Krt13 A G 11: 100,008,475 (GRCm39) S421P unknown Het
Lactbl1 G A 4: 136,354,097 (GRCm39) C37Y probably damaging Het
Lzts2 C A 19: 45,012,534 (GRCm39) S321* probably null Het
Meikin T C 11: 54,264,333 (GRCm39) V103A possibly damaging Het
Mki67 G A 7: 135,309,878 (GRCm39) P191L probably benign Het
Mlxip A G 5: 123,590,730 (GRCm39) M878V probably benign Het
Mpp7 G A 18: 7,461,678 (GRCm39) P65L possibly damaging Het
Mroh2a GCCC GC 1: 88,159,979 (GRCm39) probably null Het
Myo9b G A 8: 71,786,981 (GRCm39) R721Q probably benign Het
Nbn T A 4: 15,963,810 (GRCm39) D70E probably damaging Het
Nomo1 C A 7: 45,696,361 (GRCm39) T293N probably damaging Het
Notum A G 11: 120,551,022 (GRCm39) V48A probably benign Het
Nwd2 A T 5: 63,957,671 (GRCm39) I334L probably benign Het
Or10z1 T C 1: 174,078,092 (GRCm39) S134G probably benign Het
Or4k2 T C 14: 50,423,811 (GRCm39) T288A probably benign Het
Or6c211 A T 10: 129,505,628 (GRCm39) C253* probably null Het
Ostc T C 3: 130,497,157 (GRCm39) N80S probably damaging Het
Otud4 T A 8: 80,387,702 (GRCm39) N300K possibly damaging Het
Palmd T C 3: 116,717,400 (GRCm39) R366G possibly damaging Het
Parp1 A G 1: 180,401,230 (GRCm39) D45G probably damaging Het
Pes1 C A 11: 3,926,834 (GRCm39) T372K probably benign Het
Plcl1 A T 1: 55,736,309 (GRCm39) D550V probably benign Het
Ppp1r7 T A 1: 93,285,585 (GRCm39) probably null Het
Prdx4 A G X: 154,123,460 (GRCm39) V15A probably benign Het
Psmb8 T C 17: 34,419,144 (GRCm39) I146T probably damaging Het
Psmd13 A T 7: 140,466,968 (GRCm39) T116S probably damaging Het
Pzp A T 6: 128,462,519 (GRCm39) probably null Het
Serinc2 A G 4: 130,159,005 (GRCm39) S29P probably damaging Het
Slc39a8 T A 3: 135,592,554 (GRCm39) probably null Het
Sppl2c C T 11: 104,078,141 (GRCm39) P314S probably benign Het
St7 C T 6: 17,819,276 (GRCm39) P60L probably damaging Het
Tafa2 A T 10: 123,540,270 (GRCm39) H42L possibly damaging Het
Tnni3k C T 3: 154,644,387 (GRCm39) probably null Het
Tprg1 T C 16: 25,231,590 (GRCm39) W189R probably damaging Het
Trim32 A G 4: 65,532,694 (GRCm39) D417G probably damaging Het
Vmn2r68 A C 7: 84,882,834 (GRCm39) M306R probably benign Het
Vwa7 G A 17: 35,240,218 (GRCm39) M395I probably damaging Het
Ybx3 G A 6: 131,347,376 (GRCm39) A253V probably damaging Het
Zfp53 A T 17: 21,728,340 (GRCm39) E124D probably benign 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
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
Predicted Primers PCR Primer
(F):5'- CAGTGCTGGGGTTTTCAACTAC -3'
(R):5'- CATTGAGATGAGCACTGAAGTG -3'

Sequencing Primer
(F):5'- GGGGTTTTCAACTACAGTGAGAACTC -3'
(R):5'- TGAGCACTGAAGTGGCAGC -3'
Posted On 2014-12-04