Incidental Mutation 'IGL03073:Stx12'
ID417570
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: 0.390) question?
Stock #IGL03073
Quality Score
Status
Chromosome4
Chromosomal Location132853501-132884509 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 132858449 bp
ZygosityHeterozygous
Amino Acid Change Methionine to Valine at position 207 (M207V)
Ref Sequence ENSEMBL: ENSMUSP00000030698 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000030698]
Predicted Effect probably benign
Transcript: ENSMUST00000030698
AA Change: M207V

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000030698
Gene: ENSMUSG00000028879
AA Change: M207V

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: 33 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930504O13Rik A T 11: 58,447,451 D38E probably damaging Het
4933440M02Rik T C 7: 125,331,563 noncoding transcript Het
Actr6 A G 10: 89,726,694 S108P probably damaging Het
Adam34 A T 8: 43,650,903 N568K probably damaging Het
Anpep A G 7: 79,838,955 L408P probably damaging Het
Atp13a1 T C 8: 69,798,502 V459A probably damaging Het
Atp2b1 C T 10: 98,999,851 T486M probably damaging Het
Cdc42bpa T A 1: 180,094,376 probably benign Het
Espnl T C 1: 91,344,556 I502T probably damaging Het
Fancm T C 12: 65,101,632 Y674H probably damaging Het
Gnaq T A 19: 16,316,106 N137K probably benign Het
Igf1r T A 7: 68,215,043 D1196E probably damaging Het
Insrr A G 3: 87,809,938 probably benign Het
Mcf2l C A 8: 13,000,004 H313N probably damaging Het
Mdh1b C T 1: 63,721,487 probably null Het
Mrc1 G A 2: 14,305,342 V805I probably damaging Het
Ncam2 T G 16: 81,621,347 D763E possibly damaging Het
Ncapg2 T G 12: 116,452,274 H1091Q probably benign Het
Olfr1098 A G 2: 86,923,353 Y60H probably damaging Het
Olfr1466 T G 19: 13,342,022 I88R probably benign Het
Pcdh18 T A 3: 49,753,367 D886V possibly damaging Het
Pdlim4 A G 11: 54,063,641 V21A probably damaging Het
Safb2 A G 17: 56,571,289 S24P probably benign Het
Sec16a A G 2: 26,439,183 M940T probably benign Het
Snx14 A G 9: 88,422,896 probably null Het
Sox1 T C 8: 12,396,625 W89R probably damaging Het
Tex14 A G 11: 87,535,609 T1154A probably damaging Het
Tmcc3 T G 10: 94,578,951 S172A probably benign Het
Tnc T A 4: 63,971,224 I1773F possibly damaging Het
Tshz3 A T 7: 36,770,745 N720Y probably damaging Het
Usp19 G A 9: 108,495,803 probably benign Het
Vmn1r170 A C 7: 23,606,848 Q225P probably damaging Het
Vmn2r89 A G 14: 51,456,071 I293V possibly damaging 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
IGL03090:Stx12 APN 4 132863229 missense probably benign
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