Incidental Mutation 'IGL02625:Stx11'
ID301051
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Stx11
Ensembl Gene ENSMUSG00000039232
Gene Namesyntaxin 11
Synonyms
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.069) question?
Stock #IGL02625
Quality Score
Status
Chromosome10
Chromosomal Location12938209-12964298 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 12941917 bp
ZygosityHeterozygous
Amino Acid Change Aspartic acid to Valine at position 21 (D21V)
Ref Sequence ENSEMBL: ENSMUSP00000151448 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000042861] [ENSMUST00000163425] [ENSMUST00000218685] [ENSMUST00000219727]
Predicted Effect probably benign
Transcript: ENSMUST00000042861
AA Change: D21V

PolyPhen 2 Score 0.216 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000046243
Gene: ENSMUSG00000039232
AA Change: D21V

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: D21V

PolyPhen 2 Score 0.216 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000132758
Gene: ENSMUSG00000039232
AA Change: D21V

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: ENSMUST00000218685
AA Change: D21V

PolyPhen 2 Score 0.487 (Sensitivity: 0.88; Specificity: 0.90)
Predicted Effect possibly damaging
Transcript: ENSMUST00000219727
AA Change: D21V

PolyPhen 2 Score 0.454 (Sensitivity: 0.89; Specificity: 0.90)
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
Alg6 T A 4: 99,746,347 C109S probably damaging Het
Arhgdia C A 11: 120,580,213 E53D probably benign Het
Ccr4 A C 9: 114,492,333 C221W probably damaging Het
Ces2a G A 8: 104,740,278 probably null Het
Chpf2 G T 5: 24,591,711 E552* probably null Het
Csgalnact1 C A 8: 68,401,492 G219V probably damaging Het
Dnmt1 C T 9: 20,927,146 R207H probably benign Het
Dock2 A G 11: 34,501,168 probably null Het
Esr1 A T 10: 5,001,346 T575S probably benign Het
Fancc A G 13: 63,398,151 C93R probably damaging Het
Foxj3 A T 4: 119,624,917 R523W unknown Het
Fryl C T 5: 73,069,877 probably benign Het
Fsip2 A C 2: 82,949,492 H194P probably benign Het
Gaa G A 11: 119,274,733 V350I probably damaging Het
Gpn3 T A 5: 122,381,194 I152N probably damaging Het
H2-M10.3 T A 17: 36,367,525 H136L probably benign Het
Hist4h4 C T 6: 136,804,337 probably benign Het
Hspg2 A G 4: 137,512,642 D507G probably damaging Het
Jcad A G 18: 4,674,422 E728G probably benign Het
Kat14 G A 2: 144,402,445 R406H possibly damaging Het
Kcnma1 G T 14: 23,363,832 D863E probably damaging Het
Lrp1 A G 10: 127,574,486 Y1464H probably damaging Het
Map4 T C 9: 110,064,417 S584P probably damaging Het
Nlrp4f G A 13: 65,199,271 L58F probably damaging Het
Nlrp6 A G 7: 140,923,500 I506M probably benign Het
Nudt17 G A 3: 96,706,464 R266W probably damaging Het
Olfr1241 A G 2: 89,482,674 S154P probably damaging Het
Olfr1256 A G 2: 89,835,396 L183P probably damaging Het
Olfr651 A G 7: 104,553,573 Y218C probably damaging Het
Plcb4 A G 2: 135,961,794 E529G probably benign Het
Prss32 A T 17: 23,856,236 I187F possibly damaging Het
Prss55 A T 14: 64,079,369 I108K probably damaging Het
Rcl1 A G 19: 29,118,341 M109V probably benign Het
Rho A T 6: 115,935,197 M207L possibly damaging Het
Slc12a1 A G 2: 125,170,691 D291G probably damaging Het
Slco2b1 A C 7: 99,660,123 probably null Het
Svep1 T A 4: 58,115,807 Y962F possibly damaging Het
Tbx5 G T 5: 119,836,907 probably benign Het
Tcf12 C A 9: 71,922,757 G141W probably damaging Het
Tmtc2 A G 10: 105,370,546 M296T probably damaging Het
Trim13 T A 14: 61,605,550 S339T probably benign Het
Ugt1a7c A G 1: 88,095,517 K133E possibly damaging Het
Usp40 A G 1: 87,950,017 V1050A probably benign Het
Vmn2r86 T G 10: 130,452,912 N240T probably damaging Het
Wdr36 T C 18: 32,859,261 V617A possibly damaging Het
Wdr38 A T 2: 38,998,412 N7I probably damaging Het
Wdr6 T C 9: 108,575,505 Y393C probably damaging Het
Zfp619 A T 7: 39,534,185 probably benign Het
Other mutations in Stx11
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02096:Stx11 APN 10 12941480 missense probably benign 0.04
IGL02888:Stx11 APN 10 12941615 missense possibly damaging 0.63
IGL03228:Stx11 APN 10 12941212 missense probably benign 0.08
R1211:Stx11 UTSW 10 12941411 missense probably damaging 1.00
R1679:Stx11 UTSW 10 12941836 missense probably damaging 1.00
R5891:Stx11 UTSW 10 12941815 missense probably damaging 1.00
R7664:Stx11 UTSW 10 12941326 missense probably damaging 1.00
Posted On2015-04-16