Incidental Mutation 'IGL02096:Stx11'
ID 281095
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 # IGL02096
Quality Score
Status
Chromosome 10
Chromosomal Location 12813953-12840042 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 12817224 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Valine at position 167 (I167V)
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: I167V

PolyPhen 2 Score 0.043 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000046243
Gene: ENSMUSG00000039232
AA Change: I167V

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: I167V

PolyPhen 2 Score 0.043 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000132758
Gene: ENSMUSG00000039232
AA Change: I167V

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
Abca9 A G 11: 109,993,359 (GRCm39) L1584P probably damaging Het
Abca9 G T 11: 110,056,806 (GRCm39) H5N probably benign Het
Acox1 A T 11: 116,069,024 (GRCm39) I371N probably damaging Het
Aopep C A 13: 63,208,903 (GRCm39) A340E probably benign Het
Bmp5 A G 9: 75,805,833 (GRCm39) N445S probably damaging Het
Cacna1b G T 2: 24,568,927 (GRCm39) A999E probably benign Het
Cdc27 A T 11: 104,419,394 (GRCm39) probably benign Het
Dmxl2 T C 9: 54,308,349 (GRCm39) E2134G possibly damaging Het
Dnttip2 A G 3: 122,078,062 (GRCm39) N698S possibly damaging Het
Duox1 A T 2: 122,174,655 (GRCm39) K1271M probably damaging Het
Dync1h1 T C 12: 110,599,254 (GRCm39) Y1870H possibly damaging Het
Edem3 A G 1: 151,680,470 (GRCm39) T532A probably benign Het
Epx A T 11: 87,760,294 (GRCm39) L440Q probably damaging Het
F11 A G 8: 45,699,791 (GRCm39) F432L probably benign Het
Fam185a C A 5: 21,630,341 (GRCm39) P59Q probably damaging Het
Fsip2 A G 2: 82,822,204 (GRCm39) D5979G possibly damaging Het
Furin A G 7: 80,043,207 (GRCm39) S335P probably damaging Het
Gtf3c1 T A 7: 125,258,284 (GRCm39) Q1262L probably damaging Het
Hmmr A T 11: 40,598,256 (GRCm39) V652E probably benign Het
Iapp A T 6: 142,249,199 (GRCm39) N84I probably benign Het
Katnip G A 7: 125,413,993 (GRCm39) C379Y probably benign Het
Mmp17 C T 5: 129,675,752 (GRCm39) Q304* probably null Het
Mpl T C 4: 118,314,333 (GRCm39) T55A possibly damaging Het
Mst1r G A 9: 107,794,478 (GRCm39) R1219H probably damaging Het
Muc6 T A 7: 141,226,117 (GRCm39) probably benign Het
Nalcn C T 14: 123,831,915 (GRCm39) V120I probably benign Het
Nt5dc1 A T 10: 34,275,806 (GRCm39) C134* probably null Het
Obscn A C 11: 58,971,530 (GRCm39) N2228K probably damaging Het
Or2n1c T A 17: 38,520,074 (GRCm39) *313R probably null Het
Osbpl10 T C 9: 115,046,062 (GRCm39) M566T possibly damaging Het
Pabpc1l G A 2: 163,886,267 (GRCm39) V466I probably benign Het
Pdcd11 T G 19: 47,094,860 (GRCm39) V548G probably benign Het
Prss27 G T 17: 24,263,951 (GRCm39) K212N possibly damaging Het
Ranbp2 T A 10: 58,297,789 (GRCm39) S399T probably damaging Het
Rgs19 A G 2: 181,331,076 (GRCm39) S159P probably damaging Het
Sh2b1 A G 7: 126,068,465 (GRCm39) S449P probably damaging Het
Slc6a18 T A 13: 73,820,870 (GRCm39) Y238F probably benign Het
Sucnr1 A G 3: 59,994,371 (GRCm39) M300V possibly damaging Het
Synj2 A G 17: 6,040,628 (GRCm39) T235A probably damaging Het
Ubxn2b T A 4: 6,214,749 (GRCm39) I261N probably damaging Het
Vmn2r43 G A 7: 8,260,512 (GRCm39) probably benign Het
Vmn2r45 A G 7: 8,484,443 (GRCm39) M454T probably damaging Het
Vsig2 T A 9: 37,451,251 (GRCm39) S51T probably damaging Het
Wdr41 T C 13: 95,153,964 (GRCm39) probably benign Het
Wdr6 A C 9: 108,453,752 (GRCm39) L44V probably damaging Het
Zfp1001 T C 2: 150,165,634 (GRCm39) Y5H probably damaging Het
Zfp592 T C 7: 80,674,796 (GRCm39) Y587H probably damaging Het
Zfp735 A T 11: 73,602,254 (GRCm39) K399N probably benign Het
Other mutations in Stx11
AlleleSourceChrCoordTypePredicted EffectPPH Score
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
R9305:Stx11 UTSW 10 12,817,564 (GRCm39) missense probably benign
Posted On 2015-04-16