Incidental Mutation 'IGL03133:Stx7'
ID410415
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Stx7
Ensembl Gene ENSMUSG00000019998
Gene Namesyntaxin 7
Synonyms
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL03133
Quality Score
Status
Chromosome10
Chromosomal Location24149302-24190222 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 24185038 bp
ZygosityHeterozygous
Amino Acid Change Asparagine to Isoleucine at position 221 (N221I)
Ref Sequence ENSEMBL: ENSMUSP00000151638 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000020174] [ENSMUST00000220041]
Predicted Effect probably damaging
Transcript: ENSMUST00000020174
AA Change: N221I

PolyPhen 2 Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000020174
Gene: ENSMUSG00000019998
AA Change: N221I

DomainStartEndE-ValueType
SynN 3 116 2.66e-31 SMART
t_SNARE 160 227 2.39e-17 SMART
transmembrane domain 237 259 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000220041
AA Change: N221I

PolyPhen 2 Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a syntaxin family membrane receptor involved in vesicle transport. The encoded protein binds alpha-SNAP, an important regulator of transport vesicle fusion. Along with syntaxin 13, this protein plays a role in the ordered fusion of endosomes and lysosomes with the phagosome. [provided by RefSeq, May 2016]
Allele List at MGI
Other mutations in this stock
Total: 27 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adarb1 T C 10: 77,325,896 probably benign Het
Ano5 C T 7: 51,576,512 R505* probably null Het
Asphd1 A G 7: 126,948,280 C284R possibly damaging Het
Cep192 T A 18: 67,810,105 W158R probably benign Het
Ces2h T A 8: 105,016,779 D188E probably damaging Het
Dab1 G A 4: 104,727,580 V306I probably benign Het
Dcc A G 18: 71,262,955 probably benign Het
Dennd6b T A 15: 89,188,523 probably null Het
Dmwd T A 7: 19,076,637 V123D probably damaging Het
Eno1 A G 4: 150,245,344 probably benign Het
Fat2 G A 11: 55,286,043 T1542I probably benign Het
Fcrl1 T C 3: 87,389,392 S274P probably benign Het
Gmpr T C 13: 45,517,018 V72A probably benign Het
Kank2 T C 9: 21,795,641 E27G probably null Het
Mtor G T 4: 148,484,319 A1099S probably benign Het
Ofcc1 T C 13: 40,072,768 I763V probably benign Het
Olfr1023 G T 2: 85,887,134 E111D probably damaging Het
Olfr1065 A G 2: 86,445,658 I108T probably damaging Het
Olfr487 G T 7: 108,212,387 S47R possibly damaging Het
Olfr870 T A 9: 20,170,713 N286I probably damaging Het
Piwil1 C A 5: 128,742,029 H201N probably benign Het
Slc26a7 C T 4: 14,532,576 V433M possibly damaging Het
Spata31d1c T C 13: 65,034,985 Y114H probably benign Het
Tbc1d31 A T 15: 57,942,459 probably benign Het
Ubxn7 T G 16: 32,381,781 L393R probably damaging Het
Vit A T 17: 78,566,071 M59L probably benign Het
Vmn1r5 T A 6: 56,985,615 C92S probably benign Het
Other mutations in Stx7
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02959:Stx7 APN 10 24155349 missense probably benign 0.05
madison UTSW 10 24182761 splice site probably null
stones UTSW 10 24184985 critical splice acceptor site probably null
R0201:Stx7 UTSW 10 24185079 splice site probably benign
R0413:Stx7 UTSW 10 24181594 missense probably damaging 0.99
R1624:Stx7 UTSW 10 24185005 missense probably damaging 1.00
R3980:Stx7 UTSW 10 24185049 missense probably damaging 0.99
R5874:Stx7 UTSW 10 24182761 splice site probably null
R6114:Stx7 UTSW 10 24184985 critical splice acceptor site probably null
R6493:Stx7 UTSW 10 24185071 critical splice donor site probably null
R8320:Stx7 UTSW 10 24179148 missense probably damaging 0.98
Posted On2016-08-02