Incidental Mutation 'R9305:Stx11'
ID 705171
Institutional Source Beutler Lab
Gene Symbol Stx11
Ensembl Gene ENSMUSG00000039232
Gene Name syntaxin 11
Synonyms 5830405C08Rik
MMRRC Submission
Accession Numbers
Essential gene? Probably non essential (E-score: 0.063) question?
Stock # R9305 (G1)
Quality Score 225.009
Status Not validated
Chromosome 10
Chromosomal Location 12813953-12840042 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 12817564 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glutamic Acid at position 53 (D53E)
Ref Sequence ENSEMBL: ENSMUSP00000046243 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000042861] [ENSMUST00000163425] [ENSMUST00000218685] [ENSMUST00000219727]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000042861
AA Change: D53E

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000046243
Gene: ENSMUSG00000039232
AA Change: D53E

DomainStartEndE-ValueType
SynN 36 158 7.58e-27 SMART
t_SNARE 199 266 2.2e-16 SMART
low complexity region 275 285 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000163425
AA Change: D53E

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000132758
Gene: ENSMUSG00000039232
AA Change: D53E

DomainStartEndE-ValueType
SynN 36 158 7.58e-27 SMART
t_SNARE 199 266 2.2e-16 SMART
low complexity region 275 285 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000218685
AA Change: D53E

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
Predicted Effect probably benign
Transcript: ENSMUST00000219727
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.6%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the syntaxin family. Syntaxins have been implicated in the targeting and fusion of intracellular transport vesicles. This family member may regulate protein transport among late endosomes and the trans-Golgi network. Mutations in this gene have been associated with familial hemophagocytic lymphohistiocytosis. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit defective CTL degranulation and symptoms of hemophagocytic lymphohistiocytosis following infection with LMCV. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 56 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca16 A G 7: 120,126,989 (GRCm39) I1227V probably benign Het
Abhd8 A G 8: 71,911,148 (GRCm39) V261A possibly damaging Het
Adam34 A T 8: 44,104,416 (GRCm39) C410S probably damaging Het
Adamts17 T C 7: 66,489,645 (GRCm39) L21P probably damaging Het
Adgre1 A G 17: 57,748,275 (GRCm39) N492D probably benign Het
Aldh1b1 G A 4: 45,803,811 (GRCm39) V450M probably damaging Het
Apob A G 12: 8,058,053 (GRCm39) I2178M probably benign Het
Atp9a A T 2: 168,517,163 (GRCm39) I390N probably benign Het
Bltp1 A G 3: 37,098,969 (GRCm39) I1277V Het
Cacng2 T G 15: 77,897,542 (GRCm39) Y89S possibly damaging Het
Capn10 T C 1: 92,871,665 (GRCm39) probably null Het
Casq2 A G 3: 102,052,700 (GRCm39) D404G unknown Het
Cdh9 T A 15: 16,832,138 (GRCm39) Y342N probably damaging Het
Cenpf T C 1: 189,392,271 (GRCm39) probably null Het
Cep295nl G A 11: 118,224,766 (GRCm39) P26L possibly damaging Het
Chmp4c T G 3: 10,454,974 (GRCm39) S214A probably benign Het
Clstn2 T A 9: 97,343,537 (GRCm39) I637F probably damaging Het
Csmd1 G T 8: 16,011,532 (GRCm39) T2507K probably benign Het
Ddx55 C T 5: 124,705,012 (GRCm39) S427F probably damaging Het
Dpysl5 T C 5: 30,948,959 (GRCm39) W405R probably damaging Het
Esyt1 A G 10: 128,355,388 (GRCm39) V451A possibly damaging Het
Fads2b A T 2: 85,330,649 (GRCm39) C219* probably null Het
Fam186b G A 15: 99,177,616 (GRCm39) A570V probably damaging Het
Foxa3 A G 7: 18,748,961 (GRCm39) L55P possibly damaging Het
Gng2 G T 14: 19,925,961 (GRCm39) H44N probably damaging Het
Hps5 G A 7: 46,438,619 (GRCm39) T38I possibly damaging Het
Igf2 G A 7: 142,208,153 (GRCm39) R64C probably damaging Het
Klb T A 5: 65,505,988 (GRCm39) Y78* probably null Het
Krt32 T C 11: 99,972,029 (GRCm39) T440A probably benign Het
Kynu T A 2: 43,569,768 (GRCm39) F350Y probably damaging Het
Lrp1b A T 2: 41,618,574 (GRCm39) S281T Het
Lrrc43 C T 5: 123,646,219 (GRCm39) A657V unknown Het
Mief2 C A 11: 60,622,042 (GRCm39) P204Q possibly damaging Het
Morc3 G T 16: 93,667,302 (GRCm39) R560L probably benign Het
Or2y3 A T 17: 38,393,629 (GRCm39) V80D probably damaging Het
Or8c20 A C 9: 38,260,381 (GRCm39) M1L probably benign Het
Orc3 G A 4: 34,607,181 (GRCm39) R50* probably null Het
Osbpl6 T A 2: 76,378,716 (GRCm39) D124E probably damaging Het
Parp4 TG T 14: 56,832,790 (GRCm39) probably null Het
Parp4 T C 14: 56,852,224 (GRCm39) probably null Het
Pcdhb18 A C 18: 37,625,004 (GRCm39) H778P probably benign Het
Polg A T 7: 79,105,860 (GRCm39) Y710N probably benign Het
Ppp2r2b C A 18: 42,779,025 (GRCm39) R370L possibly damaging Het
Prune2 A G 19: 17,097,625 (GRCm39) D1043G probably benign Het
Rpl6 T C 5: 121,346,516 (GRCm39) S206P possibly damaging Het
Serpina3i T C 12: 104,234,881 (GRCm39) V404A probably damaging Het
Serpinb8 T C 1: 107,526,769 (GRCm39) probably null Het
Thoc3 C T 13: 54,607,998 (GRCm39) W315* probably null Het
Tmem26 G A 10: 68,559,816 (GRCm39) W29* probably null Het
Togaram2 A G 17: 71,996,408 (GRCm39) E137G probably damaging Het
Ttc39b A G 4: 83,151,023 (GRCm39) L524S probably damaging Het
Usp43 T C 11: 67,767,345 (GRCm39) N675S probably damaging Het
Vmn2r104 A G 17: 20,268,439 (GRCm39) L10P possibly damaging Het
Zbtb1 G A 12: 76,432,773 (GRCm39) R253Q probably damaging Het
Zfc3h1 A G 10: 115,255,771 (GRCm39) D1474G probably benign Het
Zfp873 T C 10: 81,896,514 (GRCm39) F415S probably benign Het
Other mutations in Stx11
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02096:Stx11 APN 10 12,817,224 (GRCm39) missense probably benign 0.04
IGL02625:Stx11 APN 10 12,817,661 (GRCm39) missense possibly damaging 0.49
IGL02888:Stx11 APN 10 12,817,359 (GRCm39) missense possibly damaging 0.63
IGL03228:Stx11 APN 10 12,816,956 (GRCm39) missense probably benign 0.08
R1211:Stx11 UTSW 10 12,817,155 (GRCm39) missense probably damaging 1.00
R1679:Stx11 UTSW 10 12,817,580 (GRCm39) missense probably damaging 1.00
R5891:Stx11 UTSW 10 12,817,559 (GRCm39) missense probably damaging 1.00
R7664:Stx11 UTSW 10 12,817,070 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TACTCGTACATGGCTTGCTGG -3'
(R):5'- TGAATGCACAGATCTGACCATC -3'

Sequencing Primer
(F):5'- TGTGAGATGCGAGCCACC -3'
(R):5'- CCATCATTAAAGGATCCTAACTGCTG -3'
Posted On 2022-03-25