Incidental Mutation 'IGL02959:Stx7'
ID 365265
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Stx7
Ensembl Gene ENSMUSG00000019998
Gene Name syntaxin 7
Synonyms
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL02959
Quality Score
Status
Chromosome 10
Chromosomal Location 24025182-24064859 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 24031247 bp (GRCm39)
Zygosity Heterozygous
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]
AlphaFold no structure available at present
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: 128,544,023 (GRCm39) A506D probably benign Het
Agap1 G T 1: 89,770,913 (GRCm39) V635L possibly damaging Het
Akr1c12 T C 13: 4,329,331 (GRCm39) K9E probably benign Het
Alms1 T A 6: 85,606,034 (GRCm39) Y2561* probably null Het
Atm T C 9: 53,382,718 (GRCm39) H1957R probably damaging Het
Bcr T C 10: 74,996,222 (GRCm39) F922S probably benign Het
Cfap44 T A 16: 44,291,230 (GRCm39) probably benign Het
Chil5 A G 3: 105,926,906 (GRCm39) V243A probably damaging Het
Csmd1 A G 8: 15,960,465 (GRCm39) C3317R probably damaging Het
Dsc1 T C 18: 20,241,942 (GRCm39) K133R probably damaging Het
Ecm1 T A 3: 95,644,989 (GRCm39) Q136L probably damaging Het
Fscn3 C A 6: 28,435,997 (GRCm39) A431E possibly damaging Het
Gas7 C T 11: 67,565,061 (GRCm39) probably benign Het
Gbx2 A G 1: 89,856,517 (GRCm39) V291A probably damaging Het
Hipk3 G A 2: 104,301,604 (GRCm39) T196M probably damaging Het
Il20ra T A 10: 19,634,789 (GRCm39) N343K probably benign Het
Il24 C T 1: 130,813,470 (GRCm39) W42* probably null Het
Kif13b A T 14: 65,005,166 (GRCm39) I1153F probably damaging Het
Krt1c A T 15: 101,719,763 (GRCm39) S636T unknown Het
Or11g24 A T 14: 50,662,389 (GRCm39) M138L possibly damaging Het
Or13a25 C T 7: 140,247,463 (GRCm39) P81S probably damaging Het
Or14c40 T C 7: 86,313,737 (GRCm39) F289S probably damaging Het
Or4k52 T A 2: 111,610,955 (GRCm39) C97S probably damaging Het
Or6d15 A T 6: 116,559,505 (GRCm39) M134K probably damaging Het
Osmr T C 15: 6,845,378 (GRCm39) D796G possibly damaging Het
Peli2 A T 14: 48,477,754 (GRCm39) T99S probably benign Het
Pi4k2a A T 19: 42,101,510 (GRCm39) K317N probably benign Het
Pik3r1 T G 13: 101,894,037 (GRCm39) D44A probably benign Het
Pkhd1 G T 1: 20,678,640 (GRCm39) S96* probably null Het
Plekha5 A G 6: 140,489,904 (GRCm39) E9G probably damaging Het
Plekha8 T C 6: 54,592,254 (GRCm39) F71S probably damaging Het
Polq G T 16: 36,906,928 (GRCm39) L2296F probably damaging Het
Rbm5 G A 9: 107,631,384 (GRCm39) probably benign Het
Rc3h2 T C 2: 37,295,366 (GRCm39) K217E probably damaging Het
Scrib A G 15: 75,937,056 (GRCm39) L350P probably damaging Het
Slc4a10 T A 2: 62,098,487 (GRCm39) S540R probably damaging Het
Smc3 G T 19: 53,611,988 (GRCm39) V354L probably benign Het
Smurf1 T A 5: 144,836,199 (GRCm39) I105F probably damaging Het
Tbca C T 13: 94,979,203 (GRCm39) R74C probably benign Het
Tmem92 T C 11: 94,669,504 (GRCm39) Q153R possibly damaging Het
Trim41 C A 11: 48,698,307 (GRCm39) G553V probably damaging Het
Trim75 A T 8: 65,435,417 (GRCm39) N344K possibly damaging Het
Tsr1 A G 11: 74,791,075 (GRCm39) D218G probably benign Het
Ubr2 A C 17: 47,286,877 (GRCm39) V474G probably damaging Het
Unc45a T G 7: 79,982,721 (GRCm39) probably benign Het
Zfp609 C T 9: 65,610,675 (GRCm39) A763T probably benign Het
Other mutations in Stx7
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL03133:Stx7 APN 10 24,060,936 (GRCm39) missense probably damaging 0.99
madison UTSW 10 24,058,659 (GRCm39) splice site probably null
stones UTSW 10 24,060,883 (GRCm39) critical splice acceptor site probably null
switch UTSW 10 24,058,724 (GRCm39) nonsense probably null
teufel UTSW 10 24,057,454 (GRCm39) missense possibly damaging 0.86
R0201:Stx7 UTSW 10 24,060,977 (GRCm39) splice site probably benign
R0413:Stx7 UTSW 10 24,057,492 (GRCm39) missense probably damaging 0.99
R1624:Stx7 UTSW 10 24,060,903 (GRCm39) missense probably damaging 1.00
R3980:Stx7 UTSW 10 24,060,947 (GRCm39) missense probably damaging 0.99
R5874:Stx7 UTSW 10 24,058,659 (GRCm39) splice site probably null
R6114:Stx7 UTSW 10 24,060,883 (GRCm39) critical splice acceptor site probably null
R6493:Stx7 UTSW 10 24,060,969 (GRCm39) critical splice donor site probably null
R8320:Stx7 UTSW 10 24,055,046 (GRCm39) missense probably damaging 0.98
R8560:Stx7 UTSW 10 24,057,454 (GRCm39) missense possibly damaging 0.86
R9098:Stx7 UTSW 10 24,058,724 (GRCm39) nonsense probably null
R9792:Stx7 UTSW 10 24,057,475 (GRCm39) missense probably damaging 1.00
R9795:Stx7 UTSW 10 24,057,475 (GRCm39) missense probably damaging 1.00
Posted On 2015-12-18