Incidental Mutation 'IGL01337:Stx1a'
ID 74662
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 # IGL01337
Quality Score
Status
Chromosome 5
Chromosomal Location 135052336-135079954 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 135074518 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Threonine at position 203 (I203T)
Ref Sequence ENSEMBL: ENSMUSP00000005509 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000005509] [ENSMUST00000150838] [ENSMUST00000201008]
AlphaFold O35526
Predicted Effect probably damaging
Transcript: ENSMUST00000005509
AA Change: I203T

PolyPhen 2 Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000005509
Gene: ENSMUSG00000007207
AA Change: I203T

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 noncoding transcript
Transcript: ENSMUST00000133812
Predicted Effect noncoding transcript
Transcript: ENSMUST00000144198
Predicted Effect probably damaging
Transcript: ENSMUST00000150838
AA Change: I203T

PolyPhen 2 Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000117144
Gene: ENSMUSG00000007207
AA Change: I203T

DomainStartEndE-ValueType
SynN 25 146 4.44e-42 SMART
Pfam:SNARE 197 231 6.5e-13 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000156626
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: 34 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A2m T C 6: 121,645,529 (GRCm39) Y1025H probably damaging Het
Adarb2 T C 13: 8,620,282 (GRCm39) L256P probably benign Het
Arsj A G 3: 126,158,763 (GRCm39) Y114C probably damaging Het
Bdp1 G A 13: 100,192,700 (GRCm39) P1378L probably benign Het
Clca3a2 T C 3: 144,800,939 (GRCm39) Y138C probably damaging Het
Dsp G A 13: 38,376,663 (GRCm39) D1483N probably benign Het
Etl4 T C 2: 20,790,198 (GRCm39) S617P probably benign Het
Fbxo34 T C 14: 47,767,674 (GRCm39) S345P probably benign Het
Gm5420 A G 10: 21,567,514 (GRCm39) noncoding transcript Het
Gpr182 T A 10: 127,586,655 (GRCm39) I99F possibly damaging Het
Hectd1 A G 12: 51,849,057 (GRCm39) I349T possibly damaging Het
Kifc5b A G 17: 27,143,718 (GRCm39) T497A possibly damaging Het
Mllt3 A C 4: 87,759,057 (GRCm39) D330E probably damaging Het
Mpp3 T C 11: 101,891,411 (GRCm39) T576A probably benign Het
Mroh2b A G 15: 4,934,506 (GRCm39) M126V probably benign Het
Naalad2 T G 9: 18,238,669 (GRCm39) D644A probably damaging Het
Or4a74 A G 2: 89,439,720 (GRCm39) I242T probably damaging Het
Otof C A 5: 30,563,121 (GRCm39) A242S possibly damaging Het
Otof T C 5: 30,576,856 (GRCm39) D132G probably benign Het
Pdk4 T A 6: 5,491,869 (GRCm39) M68L probably benign Het
Ptprf A G 4: 118,093,488 (GRCm39) Y385H probably damaging Het
Rxrb A G 17: 34,255,605 (GRCm39) N254S probably damaging Het
Samd5 T A 10: 9,504,768 (GRCm39) Y162F probably benign Het
Sapcd2 A G 2: 25,266,491 (GRCm39) *392W probably null Het
Senp6 T C 9: 80,043,792 (GRCm39) Y635H probably damaging Het
Serpine1 C A 5: 137,098,185 (GRCm39) V163L probably damaging Het
Slc15a1 T C 14: 121,698,091 (GRCm39) E678G possibly damaging Het
Slc22a16 T C 10: 40,471,310 (GRCm39) F494L possibly damaging Het
Slc5a12 T A 2: 110,450,718 (GRCm39) C304* probably null Het
Spink1 G A 18: 43,870,216 (GRCm39) probably benign Het
Star G A 8: 26,299,892 (GRCm39) G78E probably damaging Het
Tap2 A G 17: 34,424,386 (GRCm39) probably benign Het
Trim75 T C 8: 65,436,387 (GRCm39) D21G possibly damaging Het
Vmn1r62 T A 7: 5,679,144 (GRCm39) I275N probably damaging Het
Other mutations in Stx1a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01956:Stx1a APN 5 135,066,323 (GRCm39) splice site probably benign
IGL02448:Stx1a APN 5 135,052,473 (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 2013-10-07