Incidental Mutation 'IGL03052:Stx16'
ID 392166
Institutional Source Beutler Lab
Gene Symbol Stx16
Ensembl Gene ENSMUSG00000027522
Gene Name syntaxin 16
Synonyms 5430410K23Rik, 6330500A18Rik, SYN16
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL03052 (G1)
Quality Score 99
Status Validated
Chromosome 2
Chromosomal Location 173918101-173941564 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 173934231 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Proline to Threonine at position 145 (P145T)
Ref Sequence ENSEMBL: ENSMUSP00000039543 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000044638] [ENSMUST00000087908] [ENSMUST00000134876] [ENSMUST00000147038] [ENSMUST00000155000]
AlphaFold Q8BVI5
Predicted Effect probably benign
Transcript: ENSMUST00000044638
AA Change: P145T

PolyPhen 2 Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)
SMART Domains Protein: ENSMUSP00000039543
Gene: ENSMUSG00000027522
AA Change: P145T

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 benign
Transcript: ENSMUST00000087908
AA Change: P144T

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
SMART Domains Protein: ENSMUSP00000085218
Gene: ENSMUSG00000027522
AA Change: P144T

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
AA Change: P91T

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000120279
Gene: ENSMUSG00000027522
AA Change: P91T

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: P141T
SMART Domains Protein: ENSMUSP00000116618
Gene: ENSMUSG00000027522
AA Change: P141T

DomainStartEndE-ValueType
Blast:SynN 73 187 5e-21 BLAST
Pfam:SNARE 217 258 6.6e-18 PFAM
Meta Mutation Damage Score 0.0729 question?
Coding Region Coverage
  • 1x: 0.0%
  • 3x: 0.0%
  • 10x: 0.0%
  • 20x: 0.0%
Validation Efficiency 100% (53/53)
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: 56 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acap3 T C 4: 155,987,815 (GRCm39) F517S probably damaging Het
Afap1l1 A G 18: 61,881,894 (GRCm39) V267A probably benign Het
Asap1 A G 15: 64,025,683 (GRCm39) probably benign Het
Bcl6 T C 16: 23,793,788 (GRCm39) probably benign Het
Ccdc73 C A 2: 104,782,281 (GRCm39) H212Q possibly damaging Het
Cct5 A T 15: 31,597,633 (GRCm39) H85Q probably damaging Het
Cfap69 A C 5: 5,639,206 (GRCm39) L238R probably damaging Het
Chl1 A T 6: 103,668,628 (GRCm39) T470S probably benign Het
Cnga4 T C 7: 105,053,932 (GRCm39) S12P probably benign Het
Cyp2c29 C T 19: 39,275,662 (GRCm39) T34M possibly damaging Het
Cyp2c67 T C 19: 39,637,329 (GRCm39) D49G possibly damaging Het
Dab2ip A G 2: 35,533,909 (GRCm39) Q45R probably benign Het
Ddhd1 A G 14: 45,858,240 (GRCm39) V164A probably damaging Het
Dnaaf8 A T 16: 4,795,358 (GRCm39) noncoding transcript Het
Dnah7c A G 1: 46,671,309 (GRCm39) Y1566C probably damaging Het
Dnase1l2 T C 17: 24,659,968 (GRCm39) probably benign Het
Dock2 G T 11: 34,182,853 (GRCm39) N1593K probably benign Het
Dpp6 G T 5: 27,914,506 (GRCm39) M530I probably benign Het
Epm2a T C 10: 11,332,974 (GRCm39) V269A possibly damaging Het
Fcna G C 2: 25,520,693 (GRCm39) probably benign Het
Fgf2 A G 3: 37,403,161 (GRCm39) S55G probably benign Het
Frem3 C T 8: 81,341,159 (GRCm39) P1151S probably damaging Het
Gm15737 T C 6: 92,846,481 (GRCm39) probably benign Het
Gpi-ps T A 8: 5,689,816 (GRCm39) noncoding transcript Het
Gvin-ps6 T C 7: 106,022,902 (GRCm39) noncoding transcript Het
Hoxa3 G A 6: 52,147,267 (GRCm39) probably benign Het
Larp7-ps A G 4: 92,079,287 (GRCm39) L178P probably benign Het
Macf1 T C 4: 123,281,188 (GRCm39) I3770V probably damaging Het
Mapk15 G T 15: 75,865,731 (GRCm39) R8L probably benign Het
Mecom C T 3: 30,015,112 (GRCm39) probably benign Het
Mknk2 C T 10: 80,505,496 (GRCm39) R154H probably benign Het
Mrgprb3 A T 7: 48,293,341 (GRCm39) V70E possibly damaging Het
Mtdh A G 15: 34,140,876 (GRCm39) K570E possibly damaging Het
Myo5c G T 9: 75,159,798 (GRCm39) probably benign Het
Myom2 T C 8: 15,173,442 (GRCm39) probably benign Het
Or52m2 C T 7: 102,263,656 (GRCm39) R180Q probably benign Het
Or5b124 T C 19: 13,611,090 (GRCm39) I205T probably benign Het
Or7g25 A T 9: 19,159,938 (GRCm39) Y252* probably null Het
Pcca A T 14: 123,124,513 (GRCm39) M695L probably benign Het
Pcdha2 A T 18: 37,074,670 (GRCm39) D767V probably damaging Het
Plekhs1 G A 19: 56,459,189 (GRCm39) D16N probably benign Het
Prr11 T C 11: 86,994,478 (GRCm39) N56S possibly damaging Het
Rxfp2 A T 5: 149,966,645 (GRCm39) probably benign Het
Sacs G T 14: 61,445,307 (GRCm39) G2451V probably damaging Het
Scarb1 G A 5: 125,371,163 (GRCm39) A4V probably damaging Het
Scart2 G A 7: 139,828,827 (GRCm39) C162Y probably damaging Het
Sik3 C A 9: 46,109,447 (GRCm39) T475K probably damaging Het
Slco1b2 A T 6: 141,594,311 (GRCm39) I59L probably benign Het
Sspo G A 6: 48,437,387 (GRCm39) G1382R probably damaging Het
Tnrc18 G A 5: 142,760,974 (GRCm39) A674V unknown Het
Uqcrq A G 11: 53,321,476 (GRCm39) V14A possibly damaging Het
Vmn2r79 A T 7: 86,652,799 (GRCm39) E497V probably benign Het
Vps8 T A 16: 21,267,115 (GRCm39) I166K probably damaging Het
Vwa8 A G 14: 79,302,361 (GRCm39) D1010G probably benign Het
Wnk1 T A 6: 119,921,760 (GRCm39) probably benign Het
Zfand3 T A 17: 30,279,798 (GRCm39) M29K probably benign 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
R0257:Stx16 UTSW 2 173,938,754 (GRCm39) missense probably benign 0.39
R4929:Stx16 UTSW 2 173,938,721 (GRCm39) missense possibly damaging 0.94
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'- TGTGTGTATGAAACCTCTAGTCACC -3'
(R):5'- TGCTGAAGAGAGAAACTGCCC -3'

Sequencing Primer
(F):5'- GAAACCTCTAGTCACCCTCTTTTAC -3'
(R):5'- CTGCCCCAAAGGAGGACAG -3'
Posted On 2016-06-09