Incidental Mutation 'IGL03228:Stx11'
ID 413796
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: 0.063) question?
Stock # IGL03228
Quality Score
Status
Chromosome 10
Chromosomal Location 12813953-12840042 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 12816956 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Methionine at position 256 (T256M)
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 probably benign
Transcript: ENSMUST00000042861
AA Change: T256M

PolyPhen 2 Score 0.078 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000046243
Gene: ENSMUSG00000039232
AA Change: T256M

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: T256M

PolyPhen 2 Score 0.078 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000132758
Gene: ENSMUSG00000039232
AA Change: T256M

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: 23 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Arid3a G A 10: 79,786,578 (GRCm39) V444I possibly damaging Het
Catsperg2 T C 7: 29,397,650 (GRCm39) Y1021C probably damaging Het
Cbx1 A G 11: 96,691,631 (GRCm39) probably benign Het
Cdk15 G T 1: 59,297,912 (GRCm39) K106N possibly damaging Het
Itpkb A T 1: 180,241,564 (GRCm39) R745W probably damaging Het
Kdr T A 5: 76,117,708 (GRCm39) I682F probably damaging Het
Klhl1 T A 14: 96,477,763 (GRCm39) E435V probably damaging Het
Lamp3 T A 16: 19,494,817 (GRCm39) Y296F possibly damaging Het
Ltb4r2 A T 14: 55,999,408 (GRCm39) N10Y probably damaging Het
Mmrn1 C T 6: 60,921,876 (GRCm39) P111L probably benign Het
Nt5c A G 11: 115,381,987 (GRCm39) Y107H probably damaging Het
Or2m12 A C 16: 19,105,140 (GRCm39) L118V probably damaging Het
Or5p53 T A 7: 107,533,330 (GRCm39) I201N possibly damaging Het
Or8h9 A G 2: 86,789,050 (GRCm39) F251L probably benign Het
Piezo2 T A 18: 63,186,133 (GRCm39) S1679C probably damaging Het
Plac8l1 T A 18: 42,325,672 (GRCm39) S78C probably damaging Het
Scyl2 A T 10: 89,485,942 (GRCm39) I549N probably damaging Het
Slc51a G A 16: 32,297,568 (GRCm39) R110C probably damaging Het
Slc6a20b G T 9: 123,461,197 (GRCm39) Y65* probably null Het
Syne2 T C 12: 76,026,686 (GRCm39) C3505R probably benign Het
Trim75 A G 8: 65,436,006 (GRCm39) L148P probably benign Het
Ubr4 T A 4: 139,156,909 (GRCm39) N2311K probably damaging Het
Zfp553 A G 7: 126,835,249 (GRCm39) H268R 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
IGL02888:Stx11 APN 10 12,817,359 (GRCm39) missense possibly damaging 0.63
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 2016-08-02