Incidental Mutation 'IGL01314:Stxbp4'
ID 278268
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Stxbp4
Ensembl Gene ENSMUSG00000020546
Gene Name syntaxin binding protein 4
Synonyms 6030470M02Rik, Synip
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL01314
Quality Score
Status
Chromosome 11
Chromosomal Location 90367318-90528910 bp(-) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) A to G at 90512475 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000116191 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000020858] [ENSMUST00000107872] [ENSMUST00000107875] [ENSMUST00000132905] [ENSMUST00000143203]
AlphaFold Q9WV89
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: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts12 C T 15: 11,071,939 (GRCm39) A161V probably benign Het
Bptf A T 11: 106,945,679 (GRCm39) V2520E probably damaging Het
C87436 T C 6: 86,434,837 (GRCm39) F395S probably damaging Het
Capn1 T C 19: 6,040,014 (GRCm39) probably benign Het
Ceacam5 T A 7: 17,481,181 (GRCm39) Y309* probably null Het
Clasp2 A G 9: 113,735,195 (GRCm39) D1011G possibly damaging Het
Csmd3 A G 15: 47,713,151 (GRCm39) Y1608H probably damaging Het
Dcaf1 T C 9: 106,711,390 (GRCm39) I77T probably benign Het
Dcdc2a T C 13: 25,286,587 (GRCm39) L170P probably damaging Het
Ddx28 A G 8: 106,737,212 (GRCm39) F282S probably damaging Het
Egf A G 3: 129,479,909 (GRCm39) I497T probably benign Het
Emsy A G 7: 98,242,662 (GRCm39) V1159A probably benign Het
Hk3 C A 13: 55,154,876 (GRCm39) probably benign Het
Htt A G 5: 35,036,200 (GRCm39) D2049G probably benign Het
Inpp5d C A 1: 87,611,472 (GRCm39) S45* probably null Het
Irf8 A G 8: 121,480,119 (GRCm39) Y119C probably damaging Het
Klk1b4 T C 7: 43,860,600 (GRCm39) probably null Het
Macf1 A G 4: 123,380,513 (GRCm39) S1273P probably damaging Het
Man2c1 A T 9: 57,049,103 (GRCm39) H867L probably benign Het
Mgat4e T C 1: 134,469,187 (GRCm39) T286A probably damaging Het
Mug2 T C 6: 122,058,238 (GRCm39) F1267L possibly damaging Het
Necab1 T A 4: 15,005,079 (GRCm39) E128D probably damaging Het
Or10ak9 G A 4: 118,726,328 (GRCm39) V117I probably benign Het
Pds5a A G 5: 65,772,637 (GRCm39) V1322A probably benign Het
Poc1b C T 10: 98,965,503 (GRCm39) T144I probably damaging Het
Prcc T A 3: 87,777,387 (GRCm39) N196Y probably damaging Het
Psma5 G A 3: 108,187,111 (GRCm39) V237M possibly damaging Het
Rap1gds1 A G 3: 138,756,322 (GRCm39) L11P probably damaging Het
Rapgef3 A G 15: 97,646,104 (GRCm39) F132S probably damaging Het
Rgs13 T G 1: 144,047,179 (GRCm39) D14A probably benign Het
Rlig1 A C 10: 100,409,473 (GRCm39) D313E probably damaging Het
Tcerg1 C A 18: 42,706,374 (GRCm39) A1017D probably damaging Het
Tent5c T C 3: 100,380,490 (GRCm39) K89E probably benign Het
Tmem79 T C 3: 88,239,883 (GRCm39) I276V possibly damaging Het
Tmem94 C A 11: 115,680,835 (GRCm39) H113N probably damaging Het
Vil1 G A 1: 74,467,397 (GRCm39) D715N probably damaging Het
Vmn2r96 A G 17: 18,803,226 (GRCm39) T187A probably benign Het
Zfhx4 T A 3: 5,478,154 (GRCm39) S3590T probably damaging Het
Other mutations in Stxbp4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00988:Stxbp4 APN 11 90,426,338 (GRCm39) missense probably benign 0.00
IGL01312:Stxbp4 APN 11 90,512,475 (GRCm39) splice site probably benign
IGL01313:Stxbp4 APN 11 90,512,475 (GRCm39) splice site probably benign
IGL01316:Stxbp4 APN 11 90,512,475 (GRCm39) splice site probably benign
IGL01377:Stxbp4 APN 11 90,512,475 (GRCm39) splice site probably benign
IGL01380:Stxbp4 APN 11 90,512,475 (GRCm39) splice site probably benign
IGL01385:Stxbp4 APN 11 90,431,074 (GRCm39) missense possibly damaging 0.95
IGL01408:Stxbp4 APN 11 90,512,475 (GRCm39) splice site probably benign
IGL02573:Stxbp4 APN 11 90,431,095 (GRCm39) missense probably damaging 0.99
IGL02707:Stxbp4 APN 11 90,428,759 (GRCm39) missense probably benign 0.00
IGL02809:Stxbp4 APN 11 90,491,010 (GRCm39) critical splice donor site probably null
IGL02900:Stxbp4 APN 11 90,497,861 (GRCm39) missense probably benign 0.03
IGL03177:Stxbp4 APN 11 90,462,579 (GRCm39) missense probably benign 0.01
IGL03397:Stxbp4 APN 11 90,431,060 (GRCm39) missense probably damaging 1.00
IGL02799:Stxbp4 UTSW 11 90,385,426 (GRCm39) critical splice donor site probably null
IGL03134:Stxbp4 UTSW 11 90,498,010 (GRCm39) missense probably damaging 0.98
R0005:Stxbp4 UTSW 11 90,439,743 (GRCm39) missense possibly damaging 0.78
R0487:Stxbp4 UTSW 11 90,483,186 (GRCm39) missense probably benign 0.00
R0930:Stxbp4 UTSW 11 90,512,526 (GRCm39) start codon destroyed probably null 0.99
R1633:Stxbp4 UTSW 11 90,430,986 (GRCm39) splice site probably benign
R3785:Stxbp4 UTSW 11 90,426,441 (GRCm39) critical splice acceptor site probably null
R4359:Stxbp4 UTSW 11 90,385,470 (GRCm39) nonsense probably null
R4591:Stxbp4 UTSW 11 90,485,606 (GRCm39) missense probably benign 0.33
R4756:Stxbp4 UTSW 11 90,498,197 (GRCm39) missense probably damaging 1.00
R5095:Stxbp4 UTSW 11 90,439,801 (GRCm39) missense probably benign 0.00
R5870:Stxbp4 UTSW 11 90,428,782 (GRCm39) missense possibly damaging 0.89
R6268:Stxbp4 UTSW 11 90,431,027 (GRCm39) nonsense probably null
R6460:Stxbp4 UTSW 11 90,497,811 (GRCm39) missense probably benign 0.35
R6479:Stxbp4 UTSW 11 90,510,013 (GRCm39) missense probably damaging 0.99
R7139:Stxbp4 UTSW 11 90,497,835 (GRCm39) nonsense probably null
R7349:Stxbp4 UTSW 11 90,482,937 (GRCm39) splice site probably null
R7481:Stxbp4 UTSW 11 90,485,639 (GRCm39) missense possibly damaging 0.94
R7812:Stxbp4 UTSW 11 90,485,654 (GRCm39) missense probably damaging 1.00
R8903:Stxbp4 UTSW 11 90,426,267 (GRCm39) missense unknown
R9023:Stxbp4 UTSW 11 90,426,249 (GRCm39) missense unknown
R9100:Stxbp4 UTSW 11 90,426,320 (GRCm39) missense possibly damaging 0.77
V8831:Stxbp4 UTSW 11 90,371,497 (GRCm39) missense probably benign 0.34
Z1176:Stxbp4 UTSW 11 90,371,497 (GRCm39) missense probably benign 0.34
Z1177:Stxbp4 UTSW 11 90,490,972 (GRCm39) missense probably benign 0.01
Z1177:Stxbp4 UTSW 11 90,483,157 (GRCm39) critical splice donor site probably null
Z1177:Stxbp4 UTSW 11 90,371,497 (GRCm39) missense probably benign 0.34
Posted On 2015-04-16