Incidental Mutation 'R6860:Stx18'
ID 535423
Institutional Source Beutler Lab
Gene Symbol Stx18
Ensembl Gene ENSMUSG00000029125
Gene Name syntaxin 18
Synonyms 1810035L21Rik, 4933425D03Rik
MMRRC Submission 045025-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R6860 (G1)
Quality Score 199.009
Status Validated
Chromosome 5
Chromosomal Location 38196086-38295109 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 38262235 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Asparagine at position 30 (D30N)
Ref Sequence ENSEMBL: ENSMUSP00000144088 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000031008] [ENSMUST00000042146] [ENSMUST00000114126] [ENSMUST00000146864] [ENSMUST00000154929] [ENSMUST00000202412]
AlphaFold Q8VDS8
Predicted Effect probably benign
Transcript: ENSMUST00000031008
AA Change: D84N

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
SMART Domains Protein: ENSMUSP00000031008
Gene: ENSMUSG00000029125
AA Change: D84N

DomainStartEndE-ValueType
Pfam:Syntaxin-18_N 3 96 4.1e-26 PFAM
low complexity region 196 209 N/A INTRINSIC
coiled coil region 229 259 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000042146
AA Change: D84N

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
SMART Domains Protein: ENSMUSP00000038205
Gene: ENSMUSG00000029125
AA Change: D84N

DomainStartEndE-ValueType
Pfam:Syntaxin-18_N 3 96 4.1e-26 PFAM
low complexity region 170 183 N/A INTRINSIC
coiled coil region 203 233 N/A INTRINSIC
transmembrane domain 284 306 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000114126
AA Change: D84N

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
SMART Domains Protein: ENSMUSP00000109761
Gene: ENSMUSG00000029125
AA Change: D84N

DomainStartEndE-ValueType
Pfam:Syntaxin-18_N 3 96 3.4e-24 PFAM
low complexity region 196 209 N/A INTRINSIC
coiled coil region 229 259 N/A INTRINSIC
transmembrane domain 310 332 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000146864
AA Change: D3N

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
SMART Domains Protein: ENSMUSP00000143909
Gene: ENSMUSG00000029125
AA Change: D3N

DomainStartEndE-ValueType
low complexity region 115 128 N/A INTRINSIC
coiled coil region 148 178 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000154929
AA Change: D30N

PolyPhen 2 Score 0.157 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000118218
Gene: ENSMUSG00000029125
AA Change: D30N

DomainStartEndE-ValueType
low complexity region 142 155 N/A INTRINSIC
coiled coil region 175 205 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000202412
AA Change: D30N

PolyPhen 2 Score 0.619 (Sensitivity: 0.87; Specificity: 0.91)
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.5%
  • 20x: 98.3%
Validation Efficiency 100% (86/86)
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 of soluble N-ethylmaleimide-sensitive factor attachment protein receptors (SNAREs) which is part of a membrane tethering complex that includes other SNAREs and several peripheral membrane proteins, and is involved in vesicular transport between the endoplasmic reticulum (ER) and the Golgi complex. The encoded protein is important for the organization of the smooth, rough, and exit site ER subdomains. A pseudogene of this gene has been identified. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2016]
Allele List at MGI
Other mutations in this stock
Total: 89 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933427D14Rik T C 11: 72,080,412 (GRCm39) E418G probably damaging Het
9930012K11Rik C A 14: 70,395,071 (GRCm39) V28L possibly damaging Het
Abtb2 C T 2: 103,539,770 (GRCm39) R712* probably null Het
Acvr1c C T 2: 58,177,717 (GRCm39) G171S probably damaging Het
Ahctf1 G T 1: 179,580,853 (GRCm39) A1783E probably benign Het
Anapc4 A T 5: 53,006,170 (GRCm39) Q149L probably damaging Het
Ankrd27 T C 7: 35,327,952 (GRCm39) V824A possibly damaging Het
Ankrd31 G C 13: 96,968,094 (GRCm39) C577S probably benign Het
Apol7c T C 15: 77,410,274 (GRCm39) N224S probably benign Het
Arl14 A T 3: 69,130,029 (GRCm39) T59S probably benign Het
Astn1 T A 1: 158,440,042 (GRCm39) I870K probably damaging Het
B4galt1 A T 4: 40,807,796 (GRCm39) V335E probably benign Het
C2cd3 C T 7: 100,039,448 (GRCm39) P216S probably benign Het
Cchcr1 C A 17: 35,840,015 (GRCm39) N711K possibly damaging Het
Chd2 A G 7: 73,147,558 (GRCm39) F467L possibly damaging Het
Cntn6 A T 6: 104,838,907 (GRCm39) E987V possibly damaging Het
Col11a2 T A 17: 34,272,572 (GRCm39) L286H probably damaging Het
Cwc22 C T 2: 77,759,792 (GRCm39) R85Q possibly damaging Het
Cyp7a1 A C 4: 6,272,587 (GRCm39) F209V probably damaging Het
Dmtn T C 14: 70,852,322 (GRCm39) T189A possibly damaging Het
Dnhd1 C G 7: 105,327,473 (GRCm39) N777K probably benign Het
Dusp16 A T 6: 134,702,842 (GRCm39) C216* probably null Het
Fan1 T A 7: 64,022,234 (GRCm39) N340Y probably damaging Het
Fbn1 T C 2: 125,170,078 (GRCm39) N1993S probably damaging Het
Fbxw22 A G 9: 109,213,030 (GRCm39) S306P probably benign Het
Ferd3l T C 12: 33,978,651 (GRCm39) S55P probably benign Het
Fpr-rs3 A G 17: 20,844,560 (GRCm39) S194P possibly damaging Het
Gm19965 G A 1: 116,748,609 (GRCm39) D97N probably benign Het
Gtpbp2 A G 17: 46,478,914 (GRCm39) probably benign Het
H3c7 G T 13: 23,728,760 (GRCm39) V36L probably benign Het
Hcn3 A C 3: 89,067,152 (GRCm39) I72S possibly damaging Het
Hk3 T A 13: 55,162,278 (GRCm39) N109Y probably damaging Het
Iqub T C 6: 24,505,737 (GRCm39) E57G possibly damaging Het
Kcnk3 T A 5: 30,779,397 (GRCm39) M149K possibly damaging Het
Kcp C T 6: 29,505,719 (GRCm39) G51D probably benign Het
Kif26a C A 12: 112,113,263 (GRCm39) A53D probably damaging Het
Lifr T A 15: 7,202,418 (GRCm39) I353K probably benign Het
Llph A T 10: 120,067,189 (GRCm39) N102I probably damaging Het
Lmo3 C A 6: 138,393,566 (GRCm39) R18L possibly damaging Het
Lrrc46 T C 11: 96,926,371 (GRCm39) E175G probably benign Het
Ltk A T 2: 119,585,075 (GRCm39) C128* probably null Het
Map1b T C 13: 99,571,275 (GRCm39) E482G probably damaging Het
Mapk8ip2 T C 15: 89,344,655 (GRCm39) V740A probably damaging Het
Miga2 T C 2: 30,261,175 (GRCm39) W157R probably benign Het
Mlip A G 9: 77,009,675 (GRCm39) *837Q probably null Het
Mroh2a G T 1: 88,182,657 (GRCm39) R1195L possibly damaging Het
Myl1 T C 1: 66,984,217 (GRCm39) probably benign Het
Or1l4 T C 2: 37,092,189 (GRCm39) L312P possibly damaging Het
Or2a5 T C 6: 42,873,750 (GRCm39) Y122H probably benign Het
Or51ab3 A G 7: 103,201,075 (GRCm39) I28V probably benign Het
P3h3 A T 6: 124,834,331 (GRCm39) V107D probably benign Het
Papolb A T 5: 142,514,651 (GRCm39) S331T possibly damaging Het
Pars2 T G 4: 106,511,700 (GRCm39) V494G probably benign Het
Pcdhb3 C A 18: 37,434,763 (GRCm39) T243K probably benign Het
Pde9a T A 17: 31,689,698 (GRCm39) M415K probably damaging Het
Ppp1r9b G A 11: 94,882,974 (GRCm39) A201T probably benign Het
Prl A G 13: 27,248,942 (GRCm39) N197S possibly damaging Het
Prl2c1 T A 13: 28,035,724 (GRCm39) M32K probably benign Het
Prrt4 T C 6: 29,170,737 (GRCm39) S572G possibly damaging Het
Psd T A 19: 46,310,858 (GRCm39) D397V probably damaging Het
Psme2b A T 11: 48,836,307 (GRCm39) Y213* probably null Het
Ptcd3 T A 6: 71,874,094 (GRCm39) probably null Het
Ptprk T G 10: 28,210,480 (GRCm39) F167L probably damaging Het
Rfx7 T C 9: 72,524,226 (GRCm39) V472A probably damaging Het
Sanbr A G 11: 23,575,100 (GRCm39) L58P probably damaging Het
Scnn1g T C 7: 121,339,576 (GRCm39) L125S probably damaging Het
Sec16a T C 2: 26,320,124 (GRCm39) Y1438C probably damaging Het
Serinc3 C T 2: 163,476,366 (GRCm39) S155N probably benign Het
Slc3a2 A T 19: 8,690,996 (GRCm39) V78E probably damaging Het
Slc44a4 T A 17: 35,140,044 (GRCm39) L23Q probably damaging Het
Slco5a1 C T 1: 12,951,420 (GRCm39) probably benign Het
Slit1 A G 19: 41,605,154 (GRCm39) M899T probably benign Het
Sorl1 A G 9: 41,933,688 (GRCm39) I1094T probably benign Het
Spag9 T A 11: 93,972,196 (GRCm39) L258Q probably benign Het
Strip1 T C 3: 107,526,252 (GRCm39) E488G possibly damaging Het
Sync T C 4: 129,181,583 (GRCm39) probably null Het
Syncrip A G 9: 88,358,849 (GRCm39) V220A probably damaging Het
Tagln2 T C 1: 172,333,476 (GRCm39) I110T probably benign Het
Taok1 T C 11: 77,432,627 (GRCm39) T729A probably benign Het
Tgfbrap1 C T 1: 43,106,759 (GRCm39) V75I possibly damaging Het
Tnfrsf21 A G 17: 43,327,957 (GRCm39) T24A probably benign Het
Tnxb T A 17: 34,932,131 (GRCm39) D2221E probably damaging Het
Triml1 A G 8: 43,583,603 (GRCm39) S333P probably damaging Het
Trp53bp1 C A 2: 121,029,594 (GRCm39) R1862L probably damaging Het
Tsc22d1 T G 14: 76,655,732 (GRCm39) I737S possibly damaging Het
U2af2 A T 7: 5,082,273 (GRCm39) K462N possibly damaging Het
Ubap2 A C 4: 41,233,631 (GRCm39) N86K probably damaging Het
Uso1 A G 5: 92,343,207 (GRCm39) K764E probably benign Het
Vmn1r192 T A 13: 22,372,122 (GRCm39) M33L probably benign Het
Other mutations in Stx18
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01782:Stx18 APN 5 38,263,955 (GRCm39) missense possibly damaging 0.86
IGL02123:Stx18 APN 5 38,285,447 (GRCm39) missense probably damaging 1.00
IGL03107:Stx18 APN 5 38,293,655 (GRCm39) missense probably damaging 1.00
IGL03187:Stx18 APN 5 38,284,327 (GRCm39) missense possibly damaging 0.94
R0025:Stx18 UTSW 5 38,249,908 (GRCm39) missense probably damaging 1.00
R0025:Stx18 UTSW 5 38,249,908 (GRCm39) missense probably damaging 1.00
R0414:Stx18 UTSW 5 38,262,349 (GRCm39) splice site probably benign
R0713:Stx18 UTSW 5 38,264,015 (GRCm39) splice site probably null
R1147:Stx18 UTSW 5 38,284,267 (GRCm39) splice site probably benign
R1552:Stx18 UTSW 5 38,262,335 (GRCm39) missense probably damaging 0.99
R1725:Stx18 UTSW 5 38,292,599 (GRCm39) missense probably damaging 1.00
R1929:Stx18 UTSW 5 38,285,383 (GRCm39) splice site probably null
R2020:Stx18 UTSW 5 38,292,588 (GRCm39) missense probably damaging 1.00
R4678:Stx18 UTSW 5 38,293,712 (GRCm39) unclassified probably benign
R5247:Stx18 UTSW 5 38,263,977 (GRCm39) missense probably damaging 1.00
R6056:Stx18 UTSW 5 38,263,908 (GRCm39) missense probably damaging 0.96
R6330:Stx18 UTSW 5 38,284,261 (GRCm39) splice site probably null
R7060:Stx18 UTSW 5 38,278,599 (GRCm39) missense possibly damaging 0.87
R7285:Stx18 UTSW 5 38,262,251 (GRCm39) missense possibly damaging 0.91
R7351:Stx18 UTSW 5 38,196,755 (GRCm39) missense probably benign 0.00
R8310:Stx18 UTSW 5 38,285,383 (GRCm39) splice site probably null
R8329:Stx18 UTSW 5 38,285,450 (GRCm39) nonsense probably null
R9585:Stx18 UTSW 5 38,249,916 (GRCm39) missense possibly damaging 0.79
R9784:Stx18 UTSW 5 38,196,635 (GRCm39) start gained probably benign
X0026:Stx18 UTSW 5 38,262,310 (GRCm39) nonsense probably null
Predicted Primers PCR Primer
(F):5'- TGTTCCTAGCAAAGCTGTGC -3'
(R):5'- CTGCACAATGAGTTGTTGAACTG -3'

Sequencing Primer
(F):5'- TCGAAGACTGTACCTCATGGC -3'
(R):5'- AACTGGTTGGCACAGTCATG -3'
Posted On 2018-09-12