Incidental Mutation 'IGL01484:Stx12'
ID88847
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 #IGL01484
Quality Score
Status
Chromosome4
Chromosomal Location132853501-132884509 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 132884362 bp
ZygosityHeterozygous
Amino Acid Change Serine to Proline at position 2 (S2P)
Ref Sequence ENSEMBL: ENSMUSP00000030698 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000030698]
Predicted Effect probably damaging
Transcript: ENSMUST00000030698
AA Change: S2P

PolyPhen 2 Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000030698
Gene: ENSMUSG00000028879
AA Change: S2P

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: ENSMUST00000117591
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 34 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ankrd36 A G 11: 5,629,006 H90R possibly damaging Het
Arsj A G 3: 126,365,036 D88G probably damaging Het
Clca4b C T 3: 144,928,235 V140I probably benign Het
Dagla A C 19: 10,248,520 L760R possibly damaging Het
Dnah1 T C 14: 31,299,940 E1202G probably damaging Het
Hdac9 T C 12: 34,437,165 H100R probably damaging Het
Hhip T C 8: 79,996,783 H414R probably damaging Het
Hk2 G A 6: 82,736,730 T457M probably damaging Het
Iapp A G 6: 142,303,439 T73A possibly damaging Het
Ifit1 A G 19: 34,648,843 N460D probably damaging Het
Itpa T C 2: 130,672,099 F77L probably benign Het
Knop1 T C 7: 118,852,809 D229G probably damaging Het
Lrrc32 T C 7: 98,494,235 I5T probably damaging Het
Myo7a C T 7: 98,085,422 V622M probably damaging Het
N4bp1 T C 8: 86,844,772 E866G probably damaging Het
Olfr330 A T 11: 58,529,396 W197R probably benign Het
Palmd G A 3: 116,953,145 probably benign Het
Pcbp4 A G 9: 106,460,649 probably null Het
Pigf T C 17: 87,008,880 I157V probably benign Het
Pot1b G A 17: 55,695,160 T138M possibly damaging Het
Prl7a2 T A 13: 27,659,208 D204V probably damaging Het
Rfc3 A T 5: 151,642,936 D349E probably benign Het
Sarm1 A T 11: 78,491,013 C215S probably damaging Het
Serpine1 T C 5: 137,063,472 probably benign Het
Strip1 A G 3: 107,613,259 V825A probably damaging Het
Sycp1 A C 3: 102,915,867 S311R probably benign Het
Tfpi A T 2: 84,444,825 C139* probably null Het
Tmc5 T A 7: 118,656,787 I695N probably damaging Het
Tmem169 T C 1: 72,301,104 V231A probably damaging Het
Ttbk2 T G 2: 120,739,833 S1211R possibly damaging Het
Ubr3 C T 2: 70,021,544 R1855* probably null Het
Urb1 A T 16: 90,777,560 S878T probably benign Het
Vmn1r174 T A 7: 23,754,324 Y138* probably null Het
Zfp282 A G 6: 47,890,120 N214D possibly damaging Het
Other mutations in Stx12
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01324:Stx12 APN 4 132863265 missense probably benign 0.06
IGL03073:Stx12 APN 4 132858449 missense probably benign 0.00
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 On2013-11-18