Incidental Mutation 'IGL02448:Stx1a'
ID 293624
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Stx1a
Ensembl Gene ENSMUSG00000007207
Gene Name syntaxin 1A (brain)
Synonyms HPC-1
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL02448
Quality Score
Status
Chromosome 5
Chromosomal Location 135052336-135079954 bp(+) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) G to T at 135052473 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000144082 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000005509] [ENSMUST00000150838] [ENSMUST00000201008]
AlphaFold O35526
Predicted Effect probably benign
Transcript: ENSMUST00000005509
SMART Domains Protein: ENSMUSP00000005509
Gene: ENSMUSG00000007207

DomainStartEndE-ValueType
SynN 25 146 4.44e-42 SMART
t_SNARE 187 254 3.28e-24 SMART
transmembrane domain 266 287 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000150838
SMART Domains Protein: ENSMUSP00000117144
Gene: ENSMUSG00000007207

DomainStartEndE-ValueType
SynN 25 146 4.44e-42 SMART
Pfam:SNARE 197 231 6.5e-13 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000201008
SMART Domains Protein: ENSMUSP00000144082
Gene: ENSMUSG00000007207

DomainStartEndE-ValueType
SynN 25 121 1.3e-23 SMART
Coding Region Coverage
Validation Efficiency
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 superfamily. Syntaxins are nervous system-specific proteins implicated in the docking of synaptic vesicles with the presynaptic plasma membrane. Syntaxins possess a single C-terminal transmembrane domain, a SNARE [Soluble NSF (N-ethylmaleimide-sensitive fusion protein)-Attachment protein REceptor] domain (known as H3), and an N-terminal regulatory domain (Habc). Syntaxins bind synaptotagmin in a calcium-dependent fashion and interact with voltage dependent calcium and potassium channels via the C-terminal H3 domain. This gene product is a key molecule in ion channel regulation and synaptic exocytosis. Alternatively spliced transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Sep 2009]
PHENOTYPE: Homozygous mice for one targeted mutation display impairments in LTP, cued fear memory consolidation and cued fear memory extinction while mice with another targeted mutation show no behavioral abnormalities. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Angptl6 T A 9: 20,786,866 (GRCm39) I286F probably damaging Het
Arhgap5 A G 12: 52,609,123 (GRCm39) E1366G probably damaging Het
Blzf1 T A 1: 164,123,350 (GRCm39) I326F possibly damaging Het
Cc2d2a A C 5: 43,840,547 (GRCm39) probably benign Het
Cdc37 T C 9: 21,051,147 (GRCm39) E366G possibly damaging Het
Cdh17 T C 4: 11,784,680 (GRCm39) S279P probably benign Het
Cdh18 T C 15: 23,173,875 (GRCm39) S30P probably benign Het
Cep192 A G 18: 68,002,518 (GRCm39) T2238A probably benign Het
Cpped1 C T 16: 11,623,253 (GRCm39) E289K probably benign Het
Ctsq A T 13: 61,184,044 (GRCm39) Y293N probably damaging Het
Epb41l2 A G 10: 25,369,493 (GRCm39) N20S possibly damaging Het
Gcc2 T A 10: 58,128,393 (GRCm39) C1304* probably null Het
Hsd3b5 C T 3: 98,529,447 (GRCm39) G61E probably damaging Het
Igfals A T 17: 25,099,161 (GRCm39) N84I probably damaging Het
Irs2 A T 8: 11,057,862 (GRCm39) V190D probably benign Het
Kank1 T A 19: 25,388,739 (GRCm39) L804Q probably damaging Het
Kcnj2 G T 11: 110,963,108 (GRCm39) V167L probably benign Het
Kif20a T C 18: 34,761,507 (GRCm39) V300A possibly damaging Het
Kmt2d T C 15: 98,741,991 (GRCm39) probably benign Het
Moxd1 T C 10: 24,158,617 (GRCm39) F424L probably damaging Het
Mpeg1 A C 19: 12,439,973 (GRCm39) D477A probably benign Het
Mtmr10 A T 7: 63,957,898 (GRCm39) Y166F probably damaging Het
Muc5b T G 7: 141,422,226 (GRCm39) I4454S possibly damaging Het
Ntng1 G A 3: 109,841,875 (GRCm39) probably benign Het
Or52r1b T C 7: 102,691,604 (GRCm39) I306T possibly damaging Het
Or7e175 T A 9: 20,048,937 (GRCm39) L175* probably null Het
Pex11a A T 7: 79,387,208 (GRCm39) probably null Het
Plcg2 A G 8: 118,333,960 (GRCm39) D911G probably benign Het
Rc3h2 T C 2: 37,279,817 (GRCm39) T471A probably benign Het
Rif1 T A 2: 52,006,708 (GRCm39) L2214Q probably damaging Het
Rtel1 T A 2: 180,977,830 (GRCm39) S120T probably benign Het
Ryr1 A G 7: 28,804,491 (GRCm39) probably benign Het
Sh3yl1 G T 12: 30,989,666 (GRCm39) A129S probably damaging Het
Slc25a10 A G 11: 120,387,879 (GRCm39) T191A probably benign Het
Slc8b1 T C 5: 120,663,856 (GRCm39) S359P probably damaging Het
Srf T C 17: 46,866,349 (GRCm39) T136A possibly damaging Het
Taf1d T A 9: 15,221,690 (GRCm39) C224* probably null Het
Tnik A G 3: 28,675,226 (GRCm39) S700G probably null Het
Ttn T C 2: 76,773,331 (GRCm39) H2357R probably benign Het
Ttn T C 2: 76,566,458 (GRCm39) E28145G probably damaging Het
Ush1c C A 7: 45,858,561 (GRCm39) V576F possibly damaging Het
Xpc T C 6: 91,492,726 (GRCm39) E19G probably benign Het
Zdhhc25 G A 15: 88,485,045 (GRCm39) V127M probably damaging Het
Other mutations in Stx1a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01337:Stx1a APN 5 135,074,518 (GRCm39) missense probably damaging 0.99
IGL01956:Stx1a APN 5 135,066,323 (GRCm39) splice site probably benign
R0140:Stx1a UTSW 5 135,074,439 (GRCm39) splice site probably benign
R0840:Stx1a UTSW 5 135,070,088 (GRCm39) intron probably benign
R5810:Stx1a UTSW 5 135,077,932 (GRCm39) missense probably damaging 0.99
R7345:Stx1a UTSW 5 135,066,042 (GRCm39) missense probably benign 0.00
R7536:Stx1a UTSW 5 135,078,694 (GRCm39) missense probably damaging 1.00
R8085:Stx1a UTSW 5 135,066,431 (GRCm39) critical splice donor site probably null
R9295:Stx1a UTSW 5 135,066,370 (GRCm39) missense probably benign 0.11
Posted On 2015-04-16