Incidental Mutation 'IGL01316:Stxbp4'
ID278269
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Stxbp4
Ensembl Gene ENSMUSG00000020546
Gene Namesyntaxin binding protein 4
SynonymsSynip, 6030470M02Rik
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL01316
Quality Score
Status
Chromosome11
Chromosomal Location90476492-90638084 bp(-) (GRCm38)
Type of Mutationsplice site
DNA Base Change (assembly) A to G at 90621649 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000116191 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000020858] [ENSMUST00000107872] [ENSMUST00000107875] [ENSMUST00000132905] [ENSMUST00000143203]
Predicted Effect probably benign
Transcript: ENSMUST00000020858
SMART Domains Protein: ENSMUSP00000020858
Gene: ENSMUSG00000020546

DomainStartEndE-ValueType
PDZ 29 109 6.13e-10 SMART
low complexity region 131 154 N/A INTRINSIC
coiled coil region 298 409 N/A INTRINSIC
low complexity region 504 522 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000107872
SMART Domains Protein: ENSMUSP00000103504
Gene: ENSMUSG00000020546

DomainStartEndE-ValueType
PDZ 29 109 6.13e-10 SMART
low complexity region 131 154 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000107875
SMART Domains Protein: ENSMUSP00000103507
Gene: ENSMUSG00000020546

DomainStartEndE-ValueType
PDZ 29 109 6.13e-10 SMART
low complexity region 131 154 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000132905
Predicted Effect probably benign
Transcript: ENSMUST00000143203
SMART Domains Protein: ENSMUSP00000116191
Gene: ENSMUSG00000020546

DomainStartEndE-ValueType
PDZ 29 109 6.13e-10 SMART
low complexity region 131 154 N/A INTRINSIC
coiled coil region 298 409 N/A INTRINSIC
WW 501 533 1.11e-10 SMART
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 31 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca4 T C 3: 122,141,755 V326A probably damaging Het
Aldh1l1 A G 6: 90,598,380 D883G probably damaging Het
Ankk1 A G 9: 49,420,484 probably benign Het
Cacna1s T C 1: 136,118,964 V1796A probably benign Het
Ccdc186 A C 19: 56,813,413 C91G probably benign Het
Clec5a T C 6: 40,582,262 T63A probably benign Het
Cyp3a11 T A 5: 145,855,151 K477N possibly damaging Het
Dram2 T A 3: 106,572,980 V116E possibly damaging Het
Dram2 T C 3: 106,571,634 Y181H probably benign Het
Eps15l1 A T 8: 72,389,414 F184L possibly damaging Het
Greb1 T A 12: 16,698,586 H1102L probably benign Het
Inpp5f G A 7: 128,690,706 probably benign Het
Kcng1 T C 2: 168,269,040 N68S probably damaging Het
Klhl41 A G 2: 69,674,724 D457G probably benign Het
Krt2 T C 15: 101,811,211 R675G probably benign Het
Med13l T A 5: 118,762,781 V2200D probably damaging Het
Mme T A 3: 63,340,159 probably benign Het
Nexn A T 3: 152,247,233 F283L probably benign Het
Noxa1 T C 2: 25,086,011 D389G probably benign Het
Olfr135 A G 17: 38,208,497 N84S probably damaging Het
Olfr836 A G 9: 19,121,422 I156V probably benign Het
Parp1 A G 1: 180,592,935 probably benign Het
Pirt T C 11: 66,925,946 S28P probably damaging Het
Ros1 A G 10: 52,087,879 probably null Het
Sdk2 T C 11: 113,867,965 T478A probably benign Het
Secisbp2 T C 13: 51,654,516 S106P probably benign Het
Shroom1 C T 11: 53,465,558 A416V probably damaging Het
Ski C T 4: 155,221,686 A279T probably damaging Het
Tab2 A G 10: 7,924,704 V28A probably damaging Het
Tmem126a G A 7: 90,452,719 P91S probably damaging Het
Ucma T C 2: 4,981,231 probably benign Het
Other mutations in Stxbp4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00988:Stxbp4 APN 11 90535512 missense probably benign 0.00
IGL01312:Stxbp4 APN 11 90621649 splice site probably benign
IGL01313:Stxbp4 APN 11 90621649 splice site probably benign
IGL01314:Stxbp4 APN 11 90621649 splice site probably benign
IGL01377:Stxbp4 APN 11 90621649 splice site probably benign
IGL01380:Stxbp4 APN 11 90621649 splice site probably benign
IGL01385:Stxbp4 APN 11 90540248 missense possibly damaging 0.95
IGL01408:Stxbp4 APN 11 90621649 splice site probably benign
IGL02573:Stxbp4 APN 11 90540269 missense probably damaging 0.99
IGL02707:Stxbp4 APN 11 90537933 missense probably benign 0.00
IGL02809:Stxbp4 APN 11 90600184 critical splice donor site probably null
IGL02900:Stxbp4 APN 11 90607035 missense probably benign 0.03
IGL03177:Stxbp4 APN 11 90571753 missense probably benign 0.01
IGL03397:Stxbp4 APN 11 90540234 missense probably damaging 1.00
IGL02799:Stxbp4 UTSW 11 90494600 critical splice donor site probably null
IGL03134:Stxbp4 UTSW 11 90607184 missense probably damaging 0.98
R0005:Stxbp4 UTSW 11 90548917 missense possibly damaging 0.78
R0487:Stxbp4 UTSW 11 90592360 missense probably benign 0.00
R0930:Stxbp4 UTSW 11 90621700 start codon destroyed probably null 0.99
R1633:Stxbp4 UTSW 11 90540160 splice site probably benign
R3785:Stxbp4 UTSW 11 90535615 critical splice acceptor site probably null
R4359:Stxbp4 UTSW 11 90494644 nonsense probably null
R4591:Stxbp4 UTSW 11 90594780 missense probably benign 0.33
R4756:Stxbp4 UTSW 11 90607371 missense probably damaging 1.00
R5095:Stxbp4 UTSW 11 90548975 missense probably benign 0.00
R5870:Stxbp4 UTSW 11 90537956 missense possibly damaging 0.89
R6268:Stxbp4 UTSW 11 90540201 nonsense probably null
R6460:Stxbp4 UTSW 11 90606985 missense probably benign 0.35
R6479:Stxbp4 UTSW 11 90619187 missense probably damaging 0.99
R7139:Stxbp4 UTSW 11 90607009 nonsense probably null
R7349:Stxbp4 UTSW 11 90592111 splice site probably null
R7481:Stxbp4 UTSW 11 90594813 missense possibly damaging 0.94
R7812:Stxbp4 UTSW 11 90594828 missense probably damaging 1.00
R8903:Stxbp4 UTSW 11 90535441 missense unknown
V8831:Stxbp4 UTSW 11 90480671 missense probably benign 0.34
Z1176:Stxbp4 UTSW 11 90480671 missense probably benign 0.34
Z1177:Stxbp4 UTSW 11 90480671 missense probably benign 0.34
Z1177:Stxbp4 UTSW 11 90592331 critical splice donor site probably null
Z1177:Stxbp4 UTSW 11 90600146 missense probably benign 0.01
Posted On2015-04-16