Incidental Mutation 'IGL02888:Stx11'
ID 363063
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Stx11
Ensembl Gene ENSMUSG00000039232
Gene Name syntaxin 11
Synonyms 5830405C08Rik
Accession Numbers
Essential gene? Probably non essential (E-score: 0.071) question?
Stock # IGL02888
Quality Score
Status
Chromosome 10
Chromosomal Location 12813953-12840042 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 12817359 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 122 (S122P)
Ref Sequence ENSEMBL: ENSMUSP00000132758 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000042861] [ENSMUST00000163425] [ENSMUST00000218685] [ENSMUST00000219727]
AlphaFold no structure available at present
Predicted Effect possibly damaging
Transcript: ENSMUST00000042861
AA Change: S122P

PolyPhen 2 Score 0.625 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000046243
Gene: ENSMUSG00000039232
AA Change: S122P

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 possibly damaging
Transcript: ENSMUST00000163425
AA Change: S122P

PolyPhen 2 Score 0.625 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000132758
Gene: ENSMUSG00000039232
AA Change: S122P

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
Predicted Effect probably benign
Transcript: ENSMUST00000219727
Coding Region Coverage
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: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam34 T C 8: 44,104,610 (GRCm39) H345R probably damaging Het
Afap1l1 T A 18: 61,881,879 (GRCm39) Y272F probably damaging Het
AI661453 C A 17: 47,778,329 (GRCm39) probably benign Het
Ajap1 T G 4: 153,516,718 (GRCm39) I208L probably benign Het
Aldh3b2 G A 19: 4,030,083 (GRCm39) V356M probably benign Het
Angptl7 T A 4: 148,580,788 (GRCm39) probably benign Het
Atp2a3 G A 11: 72,867,954 (GRCm39) probably benign Het
Birc2 T C 9: 7,819,559 (GRCm39) D451G probably benign Het
Brpf3 G A 17: 29,047,365 (GRCm39) R1043H probably damaging Het
Cd177 A G 7: 24,457,862 (GRCm39) L132P probably damaging Het
Chsy3 A G 18: 59,543,067 (GRCm39) D735G probably benign Het
Cldn8 A T 16: 88,359,271 (GRCm39) I218K probably benign Het
Cltc T C 11: 86,648,123 (GRCm39) probably benign Het
Col22a1 T C 15: 71,718,068 (GRCm39) H619R unknown Het
Crxos G A 7: 15,636,855 (GRCm39) E143K possibly damaging Het
Dcp1b A G 6: 119,197,048 (GRCm39) probably benign Het
Ddc A G 11: 11,772,297 (GRCm39) probably benign Het
Dnajc13 A T 9: 104,057,261 (GRCm39) probably benign Het
Dnajc27 C T 12: 4,139,186 (GRCm39) H75Y possibly damaging Het
Fgd3 C T 13: 49,435,292 (GRCm39) probably null Het
Gcc2 A G 10: 58,130,650 (GRCm39) D1414G probably damaging Het
Gtf3c2 G A 5: 31,331,169 (GRCm39) P169L probably damaging Het
Ighv1-76 T A 12: 115,811,566 (GRCm39) S96C probably damaging Het
Lmbrd1 T A 1: 24,754,053 (GRCm39) I206K possibly damaging Het
Lypd5 A G 7: 24,052,044 (GRCm39) S120G probably damaging Het
Mgat4b T A 11: 50,123,159 (GRCm39) Y249N probably damaging Het
Msh4 A T 3: 153,602,550 (GRCm39) L32* probably null Het
Muc4 A G 16: 32,575,656 (GRCm39) probably benign Het
Myo6 A G 9: 80,177,013 (GRCm39) probably benign Het
Nenf T C 1: 191,042,118 (GRCm39) T113A probably benign Het
Nup85 A G 11: 115,469,626 (GRCm39) D75G possibly damaging Het
Nutm1 A T 2: 112,080,980 (GRCm39) L438Q probably damaging Het
Oas1h A T 5: 120,999,610 (GRCm39) I32F probably benign Het
Oasl1 G A 5: 115,075,241 (GRCm39) V434M probably damaging Het
Or2a5 A G 6: 42,874,263 (GRCm39) N293D probably damaging Het
Or9s27 T C 1: 92,516,925 (GRCm39) L291P probably damaging Het
Pde2a C A 7: 101,154,276 (GRCm39) H549Q probably damaging Het
Phkb G T 8: 86,662,101 (GRCm39) probably null Het
Pigm T C 1: 172,205,214 (GRCm39) C317R probably damaging Het
Ppl A T 16: 4,918,271 (GRCm39) S470R possibly damaging Het
Pramel14 G A 4: 143,720,669 (GRCm39) R91W probably benign Het
Slc13a4 A T 6: 35,245,775 (GRCm39) D623E probably benign Het
Sytl3 A G 17: 7,000,483 (GRCm39) T218A probably benign Het
Tango6 A G 8: 107,447,297 (GRCm39) D565G probably damaging Het
Tex14 T C 11: 87,418,738 (GRCm39) probably null Het
Tinag T C 9: 76,938,995 (GRCm39) D161G probably benign Het
Vcpip1 T C 1: 9,795,011 (GRCm39) D1120G probably damaging Het
Zfp446 G A 7: 12,713,255 (GRCm39) A98T probably damaging 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
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
R9305:Stx11 UTSW 10 12,817,564 (GRCm39) missense probably benign
Posted On 2015-12-18