Incidental Mutation 'IGL02959:Stx7'
ID365265
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 #IGL02959
Quality Score
Status
Chromosome10
Chromosomal Location24149302-24190222 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to T at 24155349 bp
ZygosityHeterozygous
Amino Acid Change Arginine to Leucine at position 17 (R17L)
Ref Sequence ENSEMBL: ENSMUSP00000151638 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000020174] [ENSMUST00000219553] [ENSMUST00000220041]
Predicted Effect probably benign
Transcript: ENSMUST00000020174
AA Change: R17L

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000020174
Gene: ENSMUSG00000019998
AA Change: R17L

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 noncoding transcript
Transcript: ENSMUST00000218050
Predicted Effect noncoding transcript
Transcript: ENSMUST00000218643
Predicted Effect probably benign
Transcript: ENSMUST00000219553
Predicted Effect probably benign
Transcript: ENSMUST00000220041
AA Change: R17L

PolyPhen 2 Score 0.055 (Sensitivity: 0.94; Specificity: 0.84)
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: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A2ml1 G T 6: 128,567,060 A506D probably benign Het
Agap1 G T 1: 89,843,191 V635L possibly damaging Het
Akr1c12 T C 13: 4,279,332 K9E probably benign Het
Alms1 T A 6: 85,629,052 Y2561* probably null Het
Atm T C 9: 53,471,418 H1957R probably damaging Het
Bcr T C 10: 75,160,390 F922S probably benign Het
Cfap44 T A 16: 44,470,867 probably benign Het
Chil5 A G 3: 106,019,590 V243A probably damaging Het
Csmd1 A G 8: 15,910,465 C3317R probably damaging Het
Dsc1 T C 18: 20,108,885 K133R probably damaging Het
Ecm1 T A 3: 95,737,677 Q136L probably damaging Het
Fscn3 C A 6: 28,435,998 A431E possibly damaging Het
Gas7 C T 11: 67,674,235 probably benign Het
Gbx2 A G 1: 89,928,795 V291A probably damaging Het
Hipk3 G A 2: 104,471,259 T196M probably damaging Het
Il20ra T A 10: 19,759,041 N343K probably benign Het
Il24 C T 1: 130,885,733 W42* probably null Het
Kif13b A T 14: 64,767,717 I1153F probably damaging Het
Krt2 A T 15: 101,811,328 S636T unknown Het
Olfr1302 T A 2: 111,780,610 C97S probably damaging Het
Olfr215 A T 6: 116,582,544 M134K probably damaging Het
Olfr293 T C 7: 86,664,529 F289S probably damaging Het
Olfr539 C T 7: 140,667,550 P81S probably damaging Het
Olfr739 A T 14: 50,424,932 M138L possibly damaging Het
Osmr T C 15: 6,815,897 D796G possibly damaging Het
Peli2 A T 14: 48,240,297 T99S probably benign Het
Pi4k2a A T 19: 42,113,071 K317N probably benign Het
Pik3r1 T G 13: 101,757,529 D44A probably benign Het
Pkhd1 G T 1: 20,608,416 S96* probably null Het
Plekha5 A G 6: 140,544,178 E9G probably damaging Het
Plekha8 T C 6: 54,615,269 F71S probably damaging Het
Polq G T 16: 37,086,566 L2296F probably damaging Het
Rbm5 G A 9: 107,754,185 probably benign Het
Rc3h2 T C 2: 37,405,354 K217E probably damaging Het
Scrib A G 15: 76,065,207 L350P probably damaging Het
Slc4a10 T A 2: 62,268,143 S540R probably damaging Het
Smc3 G T 19: 53,623,557 V354L probably benign Het
Smurf1 T A 5: 144,899,389 I105F probably damaging Het
Tbca C T 13: 94,842,695 R74C probably benign Het
Tmem92 T C 11: 94,778,678 Q153R possibly damaging Het
Trim41 C A 11: 48,807,480 G553V probably damaging Het
Trim75 A T 8: 64,982,765 N344K possibly damaging Het
Tsr1 A G 11: 74,900,249 D218G probably benign Het
Ubr2 A C 17: 46,975,951 V474G probably damaging Het
Unc45a T G 7: 80,332,973 probably benign Het
Zfp609 C T 9: 65,703,393 A763T probably benign Het
Other mutations in Stx7
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL03133:Stx7 APN 10 24185038 missense probably damaging 0.99
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
Posted On2015-12-18