Incidental Mutation 'IGL02900:Stxbp4'
ID 363554
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 # IGL02900
Quality Score
Status
Chromosome 11
Chromosomal Location 90367318-90528910 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 90497861 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Proline at position 146 (L146P)
Ref Sequence ENSEMBL: ENSMUSP00000116191 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000020858] [ENSMUST00000107872] [ENSMUST00000107875] [ENSMUST00000143203]
AlphaFold Q9WV89
Predicted Effect probably benign
Transcript: ENSMUST00000020858
AA Change: L146P

PolyPhen 2 Score 0.028 (Sensitivity: 0.95; Specificity: 0.81)
SMART Domains Protein: ENSMUSP00000020858
Gene: ENSMUSG00000020546
AA Change: L146P

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
AA Change: L146P

PolyPhen 2 Score 0.028 (Sensitivity: 0.95; Specificity: 0.81)
SMART Domains Protein: ENSMUSP00000103504
Gene: ENSMUSG00000020546
AA Change: L146P

DomainStartEndE-ValueType
PDZ 29 109 6.13e-10 SMART
low complexity region 131 154 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000107875
AA Change: L146P

PolyPhen 2 Score 0.028 (Sensitivity: 0.95; Specificity: 0.81)
SMART Domains Protein: ENSMUSP00000103507
Gene: ENSMUSG00000020546
AA Change: L146P

DomainStartEndE-ValueType
PDZ 29 109 6.13e-10 SMART
low complexity region 131 154 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000143203
AA Change: L146P

PolyPhen 2 Score 0.028 (Sensitivity: 0.95; Specificity: 0.81)
SMART Domains Protein: ENSMUSP00000116191
Gene: ENSMUSG00000020546
AA Change: L146P

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: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2300003K06Rik G T 11: 99,728,774 (GRCm39) T23N possibly damaging Het
Angpt4 T A 2: 151,753,391 (GRCm39) V47E probably damaging Het
Arhgef11 G A 3: 87,640,467 (GRCm39) R1208Q probably benign Het
Calb1 T C 4: 15,895,695 (GRCm39) probably benign Het
Capn11 G T 17: 45,941,540 (GRCm39) probably null Het
Carmil2 T A 8: 106,422,151 (GRCm39) I1140N probably damaging Het
Cnn3 A T 3: 121,245,143 (GRCm39) T23S probably benign Het
Colgalt2 C T 1: 152,384,481 (GRCm39) T607M probably damaging Het
Cyp46a1 T G 12: 108,309,350 (GRCm39) V93G probably damaging Het
Dcaf6 T C 1: 165,227,344 (GRCm39) Y261C probably damaging Het
Dnah10 A G 5: 124,878,886 (GRCm39) Y2715C probably damaging Het
Dsg1a G T 18: 20,461,713 (GRCm39) probably benign Het
Eml4 C T 17: 83,785,421 (GRCm39) P862L probably benign Het
Gm5414 T C 15: 101,536,242 (GRCm39) T128A probably damaging Het
Gp9 G T 6: 87,756,415 (GRCm39) W143C probably damaging Het
Hipk2 T C 6: 38,706,879 (GRCm39) I670V probably damaging Het
Hoxa10 T C 6: 52,209,541 (GRCm39) K77R possibly damaging Het
Kcna1 T G 6: 126,620,057 (GRCm39) S88R probably damaging Het
Kif1b A T 4: 149,265,266 (GRCm39) S1758T possibly damaging Het
Klk1b11 A G 7: 43,427,837 (GRCm39) T182A probably damaging Het
Lrp1 G A 10: 127,412,516 (GRCm39) probably benign Het
Magi1 A G 6: 93,663,854 (GRCm39) S991P probably damaging Het
Mast4 T A 13: 102,872,184 (GRCm39) T2203S probably benign Het
Mxra8 A G 4: 155,925,668 (GRCm39) probably null Het
Mxra8 A G 4: 155,925,576 (GRCm39) E95G possibly damaging Het
Nrn1 C A 13: 36,914,080 (GRCm39) probably null Het
Or14j9 A G 17: 37,874,740 (GRCm39) I154T possibly damaging Het
Or2f2 T A 6: 42,767,808 (GRCm39) Y278* probably null Het
Or8g2b T A 9: 39,751,108 (GRCm39) I126N probably damaging Het
Or8g4 A T 9: 39,661,901 (GRCm39) H73L probably benign Het
Pbx4 A G 8: 70,319,216 (GRCm39) E249G probably damaging Het
Pkd1l2 T C 8: 117,750,830 (GRCm39) E1727G probably benign Het
Plec T G 15: 76,070,414 (GRCm39) D932A probably damaging Het
Pramel22 A T 4: 143,382,085 (GRCm39) F204I possibly damaging Het
Raph1 T C 1: 60,542,022 (GRCm39) D364G probably damaging Het
Rps29 T A 12: 69,205,825 (GRCm39) H3L probably damaging Het
Sema4c A T 1: 36,589,826 (GRCm39) C509* probably null Het
Srgap2 A T 1: 131,339,534 (GRCm39) probably benign Het
Stam2 A T 2: 52,598,209 (GRCm39) D243E probably benign Het
Teddm3 G T 16: 20,971,900 (GRCm39) T223K probably benign Het
Tfap2d A T 1: 19,189,474 (GRCm39) N285Y probably damaging Het
Tmprss3 T A 17: 31,403,553 (GRCm39) D416V probably damaging Het
Vmn1r71 T A 7: 10,482,601 (GRCm39) Y29F probably benign Het
Vmn2r84 T C 10: 130,223,861 (GRCm39) probably benign Het
Washc2 G T 6: 116,204,435 (GRCm39) D362Y probably damaging Het
Wbp2nl T C 15: 82,198,035 (GRCm39) S191P probably benign Het
Zfp608 T C 18: 55,079,865 (GRCm39) T307A probably damaging Het
Zfp970 T C 2: 177,166,610 (GRCm39) probably benign 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
IGL01314: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
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 2015-12-18