Incidental Mutation 'IGL02415:Stx6'
ID292385
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Stx6
Ensembl Gene ENSMUSG00000026470
Gene Namesyntaxin 6
Synonyms2410005I16Rik, 2310039E05Rik
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.139) question?
Stock #IGL02415
Quality Score
Status
Chromosome1
Chromosomal Location155158715-155208256 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 155193313 bp
ZygosityHeterozygous
Amino Acid Change Glutamic Acid to Glycine at position 195 (E195G)
Ref Sequence ENSEMBL: ENSMUSP00000142089 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000027743] [ENSMUST00000193059] [ENSMUST00000195302]
Predicted Effect possibly damaging
Transcript: ENSMUST00000027743
AA Change: E195G

PolyPhen 2 Score 0.680 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000027743
Gene: ENSMUSG00000026470
AA Change: E195G

DomainStartEndE-ValueType
Pfam:Syntaxin-6_N 5 103 1.9e-41 PFAM
t_SNARE 158 225 3.77e-15 SMART
transmembrane domain 235 254 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000192091
Predicted Effect noncoding transcript
Transcript: ENSMUST00000192311
Predicted Effect noncoding transcript
Transcript: ENSMUST00000192519
Predicted Effect unknown
Transcript: ENSMUST00000192690
AA Change: E49G
Predicted Effect possibly damaging
Transcript: ENSMUST00000193059
AA Change: E195G

PolyPhen 2 Score 0.577 (Sensitivity: 0.88; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000141976
Gene: ENSMUSG00000026470
AA Change: E195G

DomainStartEndE-ValueType
Pfam:Syntaxin-6_N 5 103 4.2e-32 PFAM
low complexity region 156 175 N/A INTRINSIC
Blast:t_SNARE 176 199 5e-7 BLAST
PDB:2NPS|D 176 199 4e-8 PDB
Predicted Effect noncoding transcript
Transcript: ENSMUST00000194158
Predicted Effect possibly damaging
Transcript: ENSMUST00000195302
AA Change: E195G

PolyPhen 2 Score 0.680 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000142089
Gene: ENSMUSG00000026470
AA Change: E195G

DomainStartEndE-ValueType
Pfam:Syntaxin-6_N 5 103 5.1e-35 PFAM
t_SNARE 158 225 3.77e-15 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000195693
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1110059G10Rik T C 9: 122,947,991 D124G probably benign Het
Adamts13 T A 2: 26,989,283 I616N possibly damaging Het
Adamts3 T C 5: 89,706,647 probably null Het
Amy1 T C 3: 113,563,585 I202V probably benign Het
Bdp1 G A 13: 100,089,408 T322I probably damaging Het
Cep295 A G 9: 15,353,020 L110S probably damaging Het
Cep72 T C 13: 74,050,154 D369G probably benign Het
Chd3 A T 11: 69,348,913 probably benign Het
Ckmt2 G A 13: 91,863,340 probably benign Het
Cyp2s1 T C 7: 25,808,137 T296A probably damaging Het
E2f5 T A 3: 14,603,897 V283E probably benign Het
F5 A G 1: 164,191,929 T658A probably damaging Het
Fam102b A G 3: 108,980,292 Y219H probably damaging Het
Gml A T 15: 74,816,440 Y59* probably null Het
Kmo A T 1: 175,649,323 probably benign Het
Krt25 A T 11: 99,322,572 I107N probably damaging Het
Llgl2 A G 11: 115,853,285 M773V probably damaging Het
Lyst G A 13: 13,660,956 C1741Y probably benign Het
Med12 T C X: 101,281,790 V761A probably damaging Het
Mrpl19 T C 6: 81,963,961 T150A probably benign Het
Muc2 G T 7: 141,751,872 E646* probably null Het
Muc20 T A 16: 32,794,681 T109S unknown Het
Nr2f6 T C 8: 71,374,512 T382A probably benign Het
Nrap A G 19: 56,382,309 I172T probably damaging Het
Olfr1434 A G 19: 12,283,498 Y150C probably benign Het
Olfr911-ps1 T C 9: 38,524,112 C127R probably benign Het
P3h1 A T 4: 119,247,955 Q710L probably benign Het
Parvb A G 15: 84,292,815 H185R probably damaging Het
Pkhd1 A G 1: 20,414,421 I1970T probably damaging Het
Pkhd1 T C 1: 20,522,759 Y1710C probably damaging Het
Plxna2 C A 1: 194,643,964 R69S probably damaging Het
Rad51ap2 A G 12: 11,456,929 N284S possibly damaging Het
Reln T A 5: 21,971,951 S1906C possibly damaging Het
Rln1 T C 19: 29,334,398 R67G probably damaging Het
Shcbp1 C T 8: 4,754,239 V224I possibly damaging Het
Slc13a4 A G 6: 35,283,237 probably null Het
Sult2b1 G T 7: 45,742,085 D90E possibly damaging Het
Taok1 A G 11: 77,540,240 probably benign Het
Tbx15 A T 3: 99,352,510 M566L probably benign Het
Tcaf1 C T 6: 42,686,650 A99T probably benign Het
Tcf20 T A 15: 82,853,459 M1264L probably benign Het
Tenm4 G A 7: 96,874,074 V1571M probably damaging Het
Ttc39a A G 4: 109,431,529 probably benign Het
Ubr1 C A 2: 120,970,603 probably benign Het
Ulk1 T C 5: 110,787,621 D926G probably damaging Het
Vmn2r110 T C 17: 20,583,771 I181V probably benign Het
Vmn2r66 G A 7: 85,006,812 T332I probably damaging Het
Wdr1 C A 5: 38,531,110 D161Y probably damaging Het
Wnt7a T C 6: 91,394,557 Y141C probably damaging Het
Xrra1 G A 7: 99,915,943 E573K probably benign Het
Zfp334 G T 2: 165,381,851 Q91K possibly damaging Het
Other mutations in Stx6
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00465:Stx6 APN 1 155201933 unclassified probably benign
IGL01414:Stx6 APN 1 155201945 missense possibly damaging 0.85
IGL02376:Stx6 APN 1 155201979 missense probably benign 0.39
R0276:Stx6 UTSW 1 155174163 splice site probably benign
R0709:Stx6 UTSW 1 155193294 missense probably damaging 1.00
R1218:Stx6 UTSW 1 155201991 missense probably benign 0.39
R1484:Stx6 UTSW 1 155177904 missense probably benign 0.05
R2366:Stx6 UTSW 1 155201960 missense probably benign 0.39
R2389:Stx6 UTSW 1 155197418 missense possibly damaging 0.96
R3125:Stx6 UTSW 1 155158908 missense probably damaging 0.99
R4924:Stx6 UTSW 1 155173991 missense probably damaging 1.00
R5642:Stx6 UTSW 1 155198179 missense probably benign 0.00
Posted On2015-04-16