Incidental Mutation 'IGL01626:Stx16'
ID92705
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Stx16
Ensembl Gene ENSMUSG00000027522
Gene Namesyntaxin 16
SynonymsSYN16, 6330500A18Rik, 5430410K23Rik
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL01626
Quality Score
Status
Chromosome2
Chromosomal Location174076308-174099771 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to G at 174094020 bp
ZygosityHeterozygous
Amino Acid Change Isoleucine to Serine at position 248 (I248S)
Ref Sequence ENSEMBL: ENSMUSP00000085218 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000044638] [ENSMUST00000087908] [ENSMUST00000134876] [ENSMUST00000147038] [ENSMUST00000155000]
Predicted Effect probably damaging
Transcript: ENSMUST00000044638
AA Change: I249S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000039543
Gene: ENSMUSG00000027522
AA Change: I249S

DomainStartEndE-ValueType
Blast:SynN 76 190 2e-20 BLAST
t_SNARE 227 294 9.13e-23 SMART
transmembrane domain 305 324 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000087908
AA Change: I248S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000085218
Gene: ENSMUSG00000027522
AA Change: I248S

DomainStartEndE-ValueType
Pfam:Syntaxin 74 174 2.1e-15 PFAM
t_SNARE 226 293 9.13e-23 SMART
transmembrane domain 304 323 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000134876
Predicted Effect probably benign
Transcript: ENSMUST00000147038
SMART Domains Protein: ENSMUSP00000120279
Gene: ENSMUSG00000027522

DomainStartEndE-ValueType
Pfam:Syntaxin 21 121 3e-16 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000155000
SMART Domains Protein: ENSMUSP00000119952
Gene: ENSMUSG00000027522

DomainStartEndE-ValueType
Pfam:Syntaxin 21 89 4.8e-13 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000156054
SMART Domains Protein: ENSMUSP00000116618
Gene: ENSMUSG00000027522

DomainStartEndE-ValueType
Blast:SynN 73 187 5e-21 BLAST
Pfam:SNARE 217 258 6.6e-18 PFAM
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 protein that is a member of the syntaxin or t-SNARE (target-SNAP receptor) family. These proteins are found on cell membranes and serve as the targets for V-SNARES (vesicle-SNAP receptors) permitting specific synaptic vesicle docking and fusion. A microdeletion in the region of chromosome 20 where this gene is located has been associated with pseudohypoparathyroidism type Ib. Multiple transcript variants have been found for this gene. Read-through transcription also exists between this gene and the neighboring downstream aminopeptidase-like 1 (NPEPL1) gene. [provided by RefSeq, Mar 2011]
PHENOTYPE: Mice homozygous for a knock-out allele are viable and fertile and do not exhibit methylation abnormalities or develop a pseudohypoparathyroidism resistance phenotype. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aadacl2 A G 3: 60,019,174 D188G probably damaging Het
AI314180 G A 4: 58,832,814 probably benign Het
Aoc1 A G 6: 48,906,531 Y447C probably damaging Het
Brd1 A T 15: 88,700,887 L915M probably damaging Het
Cacna2d3 T A 14: 28,943,607 E152D possibly damaging Het
Dnase2b A G 3: 146,584,616 probably null Het
Fat4 T C 3: 38,951,032 V1860A probably damaging Het
Fbxl5 C A 5: 43,758,705 G455V probably benign Het
Fpr-rs4 G A 17: 18,022,231 V167M probably damaging Het
Fut7 C A 2: 25,425,331 Y153* probably null Het
Gnptab A G 10: 88,437,495 T1045A probably damaging Het
Gucy1a1 T A 3: 82,108,619 D354V probably damaging Het
Gucy2e A G 11: 69,232,855 V406A possibly damaging Het
Herc2 T C 7: 56,085,142 F160S probably benign Het
Ice2 T G 9: 69,407,332 V42G probably benign Het
L3mbtl4 A G 17: 68,630,202 Y406C probably damaging Het
Lepr C T 4: 101,733,534 T103I probably benign Het
Ly75 T A 2: 60,301,015 M1589L probably benign Het
Map4k3 A G 17: 80,605,809 V644A probably damaging Het
Micall1 A G 15: 79,130,512 D696G possibly damaging Het
Muc4 T C 16: 32,736,402 V8A possibly damaging Het
Myo1h A G 5: 114,314,966 D9G probably damaging Het
Nop14 T A 5: 34,649,345 K472* probably null Het
Npat T A 9: 53,556,571 D275E possibly damaging Het
Nt5c1b A G 12: 10,374,798 T115A probably benign Het
Olfr429 A G 1: 174,089,556 N172S probably damaging Het
Olfr709-ps1 A T 7: 106,927,420 I13N probably benign Het
Pnpla7 T A 2: 25,050,893 S1086T possibly damaging Het
Pold1 C T 7: 44,533,372 probably null Het
Ppfia1 A G 7: 144,481,719 F1165L probably benign Het
Prlr T A 15: 10,328,718 D426E probably benign Het
Ptgs2 G A 1: 150,103,727 R231H probably damaging Het
Rorc A G 3: 94,388,787 D91G probably damaging Het
Scaper C T 9: 55,912,051 V127M possibly damaging Het
Sema3g A T 14: 31,221,727 Y188F probably damaging Het
Slc45a3 G T 1: 131,978,987 A400S possibly damaging Het
Slc9b2 C A 3: 135,336,395 H478Q probably benign Het
Spg11 T A 2: 122,060,971 H1973L probably damaging Het
Srgap3 A G 6: 112,773,648 Y359H probably damaging Het
Sytl3 A G 17: 6,735,440 R287G probably damaging Het
Tiam1 T C 16: 89,812,968 T82A probably damaging Het
Trpm1 T C 7: 64,268,889 L659P probably damaging Het
Ttc13 G A 8: 124,673,738 probably benign Het
Unc80 T C 1: 66,551,054 probably null Het
Vldlr G T 19: 27,243,773 R613L probably damaging Het
Wdr77 C T 3: 105,959,686 R35* probably null Het
Zc3h14 T G 12: 98,779,186 I478R possibly damaging Het
Zfp366 A G 13: 99,228,412 H27R probably damaging Het
Other mutations in Stx16
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01023:Stx16 APN 2 174092409 missense probably damaging 1.00
IGL03052:Stx16 UTSW 2 174092438 missense probably benign 0.01
R0257:Stx16 UTSW 2 174096961 missense probably benign 0.39
R4929:Stx16 UTSW 2 174096928 missense possibly damaging 0.94
R5728:Stx16 UTSW 2 174093499 missense probably damaging 0.98
R5729:Stx16 UTSW 2 174093499 missense probably damaging 0.98
R5746:Stx16 UTSW 2 174093499 missense probably damaging 0.98
R5772:Stx16 UTSW 2 174093499 missense probably damaging 0.98
R5774:Stx16 UTSW 2 174093499 missense probably damaging 0.98
R5776:Stx16 UTSW 2 174093499 missense probably damaging 0.98
R6147:Stx16 UTSW 2 174090687 missense probably damaging 1.00
R6837:Stx16 UTSW 2 174094002 missense probably benign 0.09
Posted On2013-12-09