Incidental Mutation 'IGL02573:Stxbp4'
ID 299085
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 # IGL02573
Quality Score
Status
Chromosome 11
Chromosomal Location 90367318-90528910 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 90431095 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 405 (D405G)
Ref Sequence ENSEMBL: ENSMUSP00000116191 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000020858] [ENSMUST00000143203]
AlphaFold Q9WV89
Predicted Effect probably damaging
Transcript: ENSMUST00000020858
AA Change: D405G

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000020858
Gene: ENSMUSG00000020546
AA Change: D405G

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 noncoding transcript
Transcript: ENSMUST00000119669
Predicted Effect unknown
Transcript: ENSMUST00000123260
AA Change: D38G
SMART Domains Protein: ENSMUSP00000122365
Gene: ENSMUSG00000020546
AA Change: D38G

DomainStartEndE-ValueType
coiled coil region 3 42 N/A INTRINSIC
SCOP:d1i5hw_ 132 153 6e-7 SMART
Blast:WW 135 153 3e-7 BLAST
PDB:2YSG|A 136 153 4e-7 PDB
Predicted Effect probably damaging
Transcript: ENSMUST00000143203
AA Change: D405G

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000116191
Gene: ENSMUSG00000020546
AA Change: D405G

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: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Angptl3 T A 4: 98,926,171 (GRCm39) W434R probably damaging Het
Atp7b T C 8: 22,512,486 (GRCm39) Q344R probably benign Het
B4galt5 C T 2: 167,146,982 (GRCm39) R284Q probably benign Het
Ccdc80 T G 16: 44,915,952 (GRCm39) V236G probably damaging Het
Chd8 T C 14: 52,457,191 (GRCm39) I926V possibly damaging Het
Dgkz A C 2: 91,764,542 (GRCm39) S1030R probably damaging Het
Disp3 T A 4: 148,355,906 (GRCm39) D318V probably damaging Het
Dnaaf10 T C 11: 17,162,136 (GRCm39) L58P possibly damaging Het
Ehd1 T C 19: 6,344,330 (GRCm39) S197P probably damaging Het
Emp1 A G 6: 135,356,945 (GRCm39) K42R probably benign Het
Garin4 G A 1: 190,896,067 (GRCm39) T192I probably damaging Het
Gm4922 T A 10: 18,659,423 (GRCm39) D433V probably benign Het
Gsdma T C 11: 98,561,577 (GRCm39) probably benign Het
Hspbp1 G T 7: 4,680,852 (GRCm39) A208E probably damaging Het
Il5ra A T 6: 106,693,712 (GRCm39) V342E possibly damaging Het
Kif13b T C 14: 65,040,880 (GRCm39) F1660S probably damaging Het
Lvrn A G 18: 47,010,016 (GRCm39) E388G probably damaging Het
Mettl17 G A 14: 52,125,504 (GRCm39) probably null Het
Mgat5b T C 11: 116,868,540 (GRCm39) Y488H probably benign Het
Mtr A T 13: 12,214,013 (GRCm39) D886E possibly damaging Het
Naip6 A T 13: 100,435,979 (GRCm39) L848* probably null Het
Nav3 A G 10: 109,702,835 (GRCm39) S233P probably benign Het
Nme9 A T 9: 99,352,908 (GRCm39) D286V probably benign Het
Nod1 C A 6: 54,920,930 (GRCm39) A463S probably benign Het
Nthl1 A G 17: 24,852,949 (GRCm39) K51R probably benign Het
Or1n2 A G 2: 36,797,566 (GRCm39) I203V probably damaging Het
Or6k14 T A 1: 173,927,696 (GRCm39) V224D possibly damaging Het
Pcnx2 G A 8: 126,582,012 (GRCm39) A908V probably benign Het
Pdcd6 A G 13: 74,452,098 (GRCm39) Y181H probably damaging Het
Pde10a A C 17: 9,180,722 (GRCm39) I719L probably benign Het
Pikfyve T A 1: 65,270,014 (GRCm39) probably null Het
Plekha5 G T 6: 140,527,742 (GRCm39) A396S probably damaging Het
Ppfia2 A G 10: 106,664,789 (GRCm39) T342A probably damaging Het
Rbck1 A G 2: 152,164,087 (GRCm39) I339T possibly damaging Het
Rbms2 A T 10: 127,979,309 (GRCm39) I140N probably damaging Het
Scn1b A T 7: 30,822,546 (GRCm39) L78Q possibly damaging Het
Slc12a6 T C 2: 112,188,986 (GRCm39) probably null Het
Slc25a30 A T 14: 76,007,108 (GRCm39) probably benign Het
Slc30a7 C T 3: 115,783,796 (GRCm39) probably benign Het
Slc5a10 C A 11: 61,563,898 (GRCm39) R546L possibly damaging Het
Tm4sf19 A C 16: 32,226,678 (GRCm39) T156P possibly damaging Het
Tmem37 A T 1: 119,995,719 (GRCm39) D119E probably damaging Het
Tor1aip1 T A 1: 155,889,117 (GRCm39) N113I probably damaging Het
Ubac2 T A 14: 122,144,802 (GRCm39) Y87N possibly damaging Het
Usp29 A T 7: 6,965,617 (GRCm39) probably null Het
Zfp276 A G 8: 123,991,736 (GRCm39) E428G 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
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
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