Incidental Mutation 'R4929:Stx16'
ID 381069
Institutional Source Beutler Lab
Gene Symbol Stx16
Ensembl Gene ENSMUSG00000027522
Gene Name syntaxin 16
Synonyms 5430410K23Rik, 6330500A18Rik, SYN16
MMRRC Submission 042530-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R4929 (G1)
Quality Score 217
Status Validated
Chromosome 2
Chromosomal Location 173918101-173941564 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 173938721 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Histidine at position 296 (Y296H)
Ref Sequence ENSEMBL: ENSMUSP00000085218 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000044638] [ENSMUST00000087908] [ENSMUST00000147038] [ENSMUST00000155000]
AlphaFold Q8BVI5
Predicted Effect possibly damaging
Transcript: ENSMUST00000044638
AA Change: Y297H

PolyPhen 2 Score 0.942 (Sensitivity: 0.80; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000039543
Gene: ENSMUSG00000027522
AA Change: Y297H

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 possibly damaging
Transcript: ENSMUST00000087908
AA Change: Y296H

PolyPhen 2 Score 0.942 (Sensitivity: 0.80; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000085218
Gene: ENSMUSG00000027522
AA Change: Y296H

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: 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 unknown
Transcript: ENSMUST00000156054
AA Change: Y245H
SMART Domains Protein: ENSMUSP00000116618
Gene: ENSMUSG00000027522
AA Change: Y245H

DomainStartEndE-ValueType
Blast:SynN 73 187 5e-21 BLAST
Pfam:SNARE 217 258 6.6e-18 PFAM
Meta Mutation Damage Score 0.1336 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.4%
  • 10x: 96.4%
  • 20x: 92.9%
Validation Efficiency 100% (66/66)
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: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930432E11Rik A G 7: 29,273,467 (GRCm39) noncoding transcript Het
Abcd3 A T 3: 121,562,395 (GRCm39) probably null Het
Adamts12 C T 15: 11,259,108 (GRCm39) R551C probably damaging Het
Adamtsl4 A G 3: 95,585,315 (GRCm39) C818R probably damaging Het
Arfgef3 T A 10: 18,506,599 (GRCm39) Q842L probably benign Het
Aurka A T 2: 172,212,326 (GRCm39) V17E probably benign Het
Cdh24 C T 14: 54,870,973 (GRCm39) V132I probably benign Het
Cep57l1 T C 10: 41,621,910 (GRCm39) D2G possibly damaging Het
Cntn5 T A 9: 9,976,400 (GRCm39) probably null Het
Col10a1 T C 10: 34,271,120 (GRCm39) I364T probably benign Het
Dpp6 G A 5: 27,254,785 (GRCm39) A67T probably benign Het
Dym T A 18: 75,376,357 (GRCm39) V583E probably damaging Het
Efcab5 T G 11: 76,994,209 (GRCm39) K1259N probably benign Het
Ehbp1 T G 11: 22,189,169 (GRCm39) I78L possibly damaging Het
Epha1 C A 6: 42,341,533 (GRCm39) A469S probably benign Het
Fam135a T C 1: 24,069,081 (GRCm39) D596G probably benign Het
Filip1 T C 9: 79,727,029 (GRCm39) N530S probably benign Het
Gm57858 G A 3: 36,089,487 (GRCm39) L146F probably damaging Het
Grhl2 A G 15: 37,361,046 (GRCm39) N610S probably benign Het
Haus6 T C 4: 86,513,670 (GRCm39) I331V probably benign Het
Ints2 G T 11: 86,103,479 (GRCm39) N1192K possibly damaging Het
Itga5 A G 15: 103,261,662 (GRCm39) V445A probably benign Het
Itga9 C A 9: 118,636,317 (GRCm39) D82E probably damaging Het
Jam2 G A 16: 84,619,750 (GRCm39) probably benign Het
Klhl32 T A 4: 24,709,030 (GRCm39) I112F probably damaging Het
Lepr A G 4: 101,672,314 (GRCm39) I1113V probably benign Het
Lrrc3b C A 14: 15,357,888 (GRCm38) L239F probably damaging Het
Lzic T A 4: 149,572,585 (GRCm39) probably null Het
Mxra8 T A 4: 155,927,118 (GRCm39) F351I probably damaging Het
Naa40 A G 19: 7,207,347 (GRCm39) F126L probably damaging Het
Nbeal1 C T 1: 60,277,813 (GRCm39) S733F probably damaging Het
Olr1 T C 6: 129,477,044 (GRCm39) T74A probably damaging Het
Or52x1 A G 7: 104,853,232 (GRCm39) I106T probably damaging Het
Or5aq7 A G 2: 86,938,527 (GRCm39) F68S possibly damaging Het
Or5h17 A C 16: 58,820,582 (GRCm39) Y178S probably damaging Het
Pgam5 A T 5: 110,413,691 (GRCm39) V130D probably damaging Het
Pop4 A G 7: 37,965,573 (GRCm39) C115R probably damaging Het
Prpf18 A T 2: 4,629,348 (GRCm39) probably null Het
Psg16 G A 7: 16,829,031 (GRCm39) R205H possibly damaging Het
Ptgr1 C A 4: 58,981,879 (GRCm39) A53S probably benign Het
Shank2 A G 7: 143,965,008 (GRCm39) D1451G probably benign Het
Slfn10-ps A G 11: 82,920,345 (GRCm39) noncoding transcript Het
Sox8 G A 17: 25,789,330 (GRCm39) A56V probably benign Het
Ssr3 A G 3: 65,295,175 (GRCm39) S113P probably damaging Het
Tfcp2 A T 15: 100,426,370 (GRCm39) N60K probably benign Het
Thada T C 17: 84,751,654 (GRCm39) T441A probably benign Het
Trf G T 9: 103,105,074 (GRCm39) probably benign Het
Vamp2 T A 11: 68,979,488 (GRCm39) probably benign Het
Vmn2r105 A T 17: 20,448,280 (GRCm39) D181E probably benign Het
Vmn2r12 A T 5: 109,239,544 (GRCm39) Y340N probably damaging Het
Wasf2 C A 4: 132,923,170 (GRCm39) D493E unknown Het
Wdfy4 T C 14: 32,769,213 (GRCm39) D2084G possibly damaging Het
Zfp229 T A 17: 21,965,354 (GRCm39) I528N probably damaging Het
Zfp703 T A 8: 27,468,879 (GRCm39) V181E possibly damaging Het
Other mutations in Stx16
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01023:Stx16 APN 2 173,934,202 (GRCm39) missense probably damaging 1.00
IGL01626:Stx16 APN 2 173,935,813 (GRCm39) missense probably damaging 1.00
IGL03052:Stx16 UTSW 2 173,934,231 (GRCm39) missense probably benign 0.01
R0257:Stx16 UTSW 2 173,938,754 (GRCm39) missense probably benign 0.39
R5728:Stx16 UTSW 2 173,935,292 (GRCm39) missense probably damaging 0.98
R5729:Stx16 UTSW 2 173,935,292 (GRCm39) missense probably damaging 0.98
R5746:Stx16 UTSW 2 173,935,292 (GRCm39) missense probably damaging 0.98
R5772:Stx16 UTSW 2 173,935,292 (GRCm39) missense probably damaging 0.98
R5774:Stx16 UTSW 2 173,935,292 (GRCm39) missense probably damaging 0.98
R5776:Stx16 UTSW 2 173,935,292 (GRCm39) missense probably damaging 0.98
R6147:Stx16 UTSW 2 173,932,480 (GRCm39) missense probably damaging 1.00
R6837:Stx16 UTSW 2 173,935,795 (GRCm39) missense probably benign 0.09
R8151:Stx16 UTSW 2 173,935,284 (GRCm39) missense possibly damaging 0.70
R8675:Stx16 UTSW 2 173,934,255 (GRCm39) missense probably benign 0.04
R9468:Stx16 UTSW 2 173,933,327 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TAACTTGGTGTCTCTTGGCC -3'
(R):5'- TGGTTAGAAGGTGTCCACGG -3'

Sequencing Primer
(F):5'- GGCCTCGGTCTTCACACTAG -3'
(R):5'- GTGCTCTTTACACAGTGCAGCG -3'
Posted On 2016-04-15