Incidental Mutation 'R0573:Stx3'
ID 46559
Institutional Source Beutler Lab
Gene Symbol Stx3
Ensembl Gene ENSMUSG00000041488
Gene Name syntaxin 3
Synonyms syntaxin 3A, Syn-3, syntaxin 3B
MMRRC Submission 038763-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R0573 (G1)
Quality Score 224
Status Validated
Chromosome 19
Chromosomal Location 11752482-11796767 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 11763110 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Lysine at position 160 (T160K)
Ref Sequence ENSEMBL: ENSMUSP00000147461 (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: T160K

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000069529
Gene: ENSMUSG00000041488
AA Change: T160K

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: T160K

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000074776
Gene: ENSMUSG00000041488
AA Change: T160K

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: T160K

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000211089
Predicted Effect probably damaging
Transcript: ENSMUST00000211641
AA Change: T142K

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
Meta Mutation Damage Score 0.2605 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 96.9%
  • 20x: 94.5%
Validation Efficiency 97% (60/62)
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: 62 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam6b A T 12: 113,455,278 (GRCm39) K698N possibly damaging Het
Adcy8 A T 15: 64,694,044 (GRCm39) V411D probably damaging Het
Arfgef3 T A 10: 18,475,036 (GRCm39) E1550V probably damaging Het
Asb3 T A 11: 31,011,406 (GRCm39) I306K probably damaging Het
Asic4 T A 1: 75,445,746 (GRCm39) probably benign Het
Basp1 G T 15: 25,364,948 (GRCm39) D16E unknown Het
Cbll1 A T 12: 31,540,539 (GRCm39) I123N probably damaging Het
Ccdc141 A T 2: 76,869,837 (GRCm39) H889Q probably benign Het
Ccdc65 T C 15: 98,618,930 (GRCm39) V303A probably benign Het
Ceacam20 T A 7: 19,720,593 (GRCm39) M60K probably damaging Het
Chd9 T A 8: 91,725,223 (GRCm39) V711D probably damaging Het
Clcn1 T A 6: 42,289,979 (GRCm39) probably null Het
Col16a1 A T 4: 129,962,268 (GRCm39) probably benign Het
Col4a3 C A 1: 82,694,084 (GRCm39) P1568Q possibly damaging Het
Colec12 C A 18: 9,858,650 (GRCm39) P478T probably damaging Het
Dchs1 T C 7: 105,407,985 (GRCm39) H1949R probably damaging Het
Dgka A G 10: 128,572,876 (GRCm39) probably null Het
Dlgap4 A G 2: 156,588,111 (GRCm39) I669V probably benign Het
Dsg1c T A 18: 20,412,298 (GRCm39) D543E probably benign Het
Egflam A T 15: 7,271,906 (GRCm39) C677* probably null Het
Eml5 A C 12: 98,791,031 (GRCm39) probably null Het
Fbn1 G A 2: 125,231,169 (GRCm39) R466C probably damaging Het
Fnbp1 C A 2: 30,948,990 (GRCm39) D198Y probably damaging Het
Gfra3 T A 18: 34,824,668 (GRCm39) M272L probably benign Het
Gm5422 T A 10: 31,126,156 (GRCm39) noncoding transcript Het
Gpr21 T A 2: 37,407,556 (GRCm39) I34N probably damaging Het
Hspb2 G T 9: 50,662,664 (GRCm39) T155K probably benign Het
Il21r A G 7: 125,224,457 (GRCm39) T24A probably benign Het
Mmadhc T A 2: 50,182,847 (GRCm39) H43L possibly damaging Het
Morn1 T A 4: 155,195,473 (GRCm39) D278E possibly damaging Het
Myoc T C 1: 162,476,243 (GRCm39) Y316H probably damaging Het
Nags A G 11: 102,037,805 (GRCm39) D266G probably damaging Het
Nlrp4b A G 7: 10,448,142 (GRCm39) N115S probably benign Het
Nlrp5 T A 7: 23,117,056 (GRCm39) I260N probably damaging Het
Obscn G A 11: 58,926,905 (GRCm39) R6190C probably damaging Het
Or5b24 T C 19: 12,912,624 (GRCm39) V174A possibly damaging Het
Or5be3 A G 2: 86,863,812 (GRCm39) F251S probably damaging Het
Orc4 C T 2: 48,807,285 (GRCm39) M215I probably benign Het
Osbpl6 A T 2: 76,420,735 (GRCm39) H770L probably damaging Het
Otogl A C 10: 107,616,849 (GRCm39) N1809K probably benign Het
Pde3a G T 6: 141,437,957 (GRCm39) V1009L probably damaging Het
Pign T C 1: 105,580,902 (GRCm39) Y159C probably damaging Het
Pik3cg C A 12: 32,247,196 (GRCm39) M842I probably damaging Het
Pnliprp1 C T 19: 58,723,314 (GRCm39) T235I possibly damaging Het
Pramel17 A C 4: 101,692,611 (GRCm39) V463G probably damaging Het
Prpf8 A G 11: 75,381,480 (GRCm39) N239D probably damaging Het
Psd2 T A 18: 36,113,546 (GRCm39) probably benign Het
Ptprt T C 2: 161,393,668 (GRCm39) D1251G probably damaging Het
Pwp2 G A 10: 78,018,520 (GRCm39) S88L probably benign Het
Rassf4 C T 6: 116,624,516 (GRCm39) probably benign Het
Rexo1 A G 10: 80,380,684 (GRCm39) S884P probably damaging Het
Rgs20 C A 1: 5,091,037 (GRCm39) R131L possibly damaging Het
Setd4 A G 16: 93,386,834 (GRCm39) V288A probably benign Het
Tas2r102 T A 6: 132,739,636 (GRCm39) S181R probably damaging Het
Tenm3 T C 8: 49,127,434 (GRCm39) probably benign Het
Tmem33 T C 5: 67,421,603 (GRCm39) probably benign Het
Trim33 A G 3: 103,259,306 (GRCm39) probably benign Het
Trip11 A G 12: 101,853,119 (GRCm39) I491T probably benign Het
Trp53bp1 A G 2: 121,058,653 (GRCm39) probably benign Het
Tuba4a T C 1: 75,193,017 (GRCm39) D199G probably benign Het
Zcchc4 A G 5: 52,953,321 (GRCm39) Y110C probably damaging Het
Zp2 C T 7: 119,734,693 (GRCm39) 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
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
Predicted Primers PCR Primer
(F):5'- TCAGAGTCCACAGAAGTTCCCTCC -3'
(R):5'- TCGAAGTGGCAAGTTGTCCAGAG -3'

Sequencing Primer
(F):5'- AGAAGTTCCCTCCCCTGC -3'
(R):5'- ACTGGAGTCAGGAGGTTGT -3'
Posted On 2013-06-11