Incidental Mutation 'IGL03090:Stx12'
ID418336
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Stx12
Ensembl Gene ENSMUSG00000028879
Gene Namesyntaxin 12
SynonymsStx13, syntaxin 13
Accession Numbers
Is this an essential gene? Possibly non essential (E-score: 0.386) question?
Stock #IGL03090
Quality Score
Status
Chromosome4
Chromosomal Location132853501-132884509 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 132863229 bp
ZygosityHeterozygous
Amino Acid Change Valine to Alanine at position 119 (V119A)
Ref Sequence ENSEMBL: ENSMUSP00000030698 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000030698]
Predicted Effect probably benign
Transcript: ENSMUST00000030698
AA Change: V119A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000030698
Gene: ENSMUSG00000028879
AA Change: V119A

DomainStartEndE-ValueType
SynN 14 129 2.7e-32 SMART
t_SNARE 173 240 4.07e-20 SMART
transmembrane domain 251 273 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000137109
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam20 A G 8: 40,794,928 Y25C probably benign Het
Agap3 A C 5: 24,501,206 T823P possibly damaging Het
Arap3 T C 18: 37,989,112 E641G probably benign Het
Armc6 C T 8: 70,231,354 R16Q probably benign Het
Asb15 T A 6: 24,567,186 I502K possibly damaging Het
Atp8b3 T A 10: 80,530,604 N275I probably damaging Het
BC022687 T C 12: 112,815,720 probably null Het
Calr G A 8: 84,846,744 P19S possibly damaging Het
Cdc6 T A 11: 98,919,296 L477* probably null Het
Cnnm4 A G 1: 36,471,871 D60G probably benign Het
Col12a1 G T 9: 79,678,370 Q1242K probably damaging Het
Dusp18 T A 11: 3,897,466 I152N probably damaging Het
Eef1akmt1 T C 14: 57,558,086 T69A probably damaging Het
Efhb T C 17: 53,462,930 Q117R probably benign Het
Fancd2 T A 6: 113,537,597 probably null Het
Fat3 C T 9: 16,377,239 W329* probably null Het
Frem3 A G 8: 80,618,229 Y1727C probably benign Het
Fut2 C T 7: 45,650,769 G193E possibly damaging Het
Gatb C A 3: 85,619,023 probably benign Het
Gpr33 A T 12: 52,024,026 S77T probably damaging Het
Gramd1c A T 16: 43,982,100 D649E probably benign Het
Herc2 T A 7: 56,204,473 L3745H probably damaging Het
Klk11 T A 7: 43,777,553 M87K probably benign Het
Krt39 T G 11: 99,519,007 probably benign Het
Lamc3 T A 2: 31,908,698 probably benign Het
Lars2 T G 9: 123,455,960 M786R probably damaging Het
Lmcd1 T A 6: 112,310,499 S49T probably benign Het
Lrba T C 3: 86,773,141 Y2689H probably benign Het
Map3k6 T C 4: 133,243,366 V188A probably benign Het
Mbd6 A C 10: 127,287,144 L49W probably damaging Het
Myo5a A T 9: 75,120,833 Y100F probably damaging Het
Myo9a T A 9: 59,894,135 probably benign Het
Ncoa7 T C 10: 30,662,400 D663G probably damaging Het
Nup214 A T 2: 32,018,242 M1075L probably benign Het
Pkd1l3 C A 8: 109,655,533 Y240* probably null Het
Pomk T A 8: 25,983,310 N205I probably damaging Het
Sdr16c5 A G 4: 4,006,575 probably benign Het
Setd1a A G 7: 127,786,500 E250G possibly damaging Het
Slc26a6 A G 9: 108,860,691 E541G probably benign Het
Slc4a3 A G 1: 75,555,017 E876G probably benign Het
Srrm4 A G 5: 116,449,584 probably benign Het
Tmem8b T A 4: 43,689,721 S333T probably damaging Het
Usp31 T C 7: 121,679,530 probably benign Het
Utp18 T C 11: 93,868,419 R410G probably damaging Het
Vmn1r172 T C 7: 23,660,038 I116T probably damaging Het
Vwa8 T A 14: 78,934,601 L274Q possibly damaging Het
Wdfy3 A T 5: 101,866,276 F2655I probably damaging Het
Zfp423 A T 8: 87,781,443 Y737N probably damaging Het
Zyx C A 6: 42,357,342 S500* probably null Het
Other mutations in Stx12
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01324:Stx12 APN 4 132863265 missense probably benign 0.06
IGL01484:Stx12 APN 4 132884362 missense probably damaging 0.99
IGL03073:Stx12 APN 4 132858449 missense probably benign 0.00
R0433:Stx12 UTSW 4 132858430 missense probably damaging 1.00
R0725:Stx12 UTSW 4 132857390 splice site probably benign
R1404:Stx12 UTSW 4 132871649 missense probably benign
R1404:Stx12 UTSW 4 132871649 missense probably benign
R1417:Stx12 UTSW 4 132860542 critical splice donor site probably null
R1711:Stx12 UTSW 4 132858477 missense probably damaging 1.00
R2100:Stx12 UTSW 4 132860602 missense possibly damaging 0.93
R3085:Stx12 UTSW 4 132857361 missense probably damaging 1.00
R7272:Stx12 UTSW 4 132857376 missense possibly damaging 0.78
Posted On2016-08-02