Incidental Mutation 'H8562:Stxbp5'
ID 44355
Institutional Source Beutler Lab
Gene Symbol Stxbp5
Ensembl Gene ENSMUSG00000019790
Gene Name syntaxin binding protein 5 (tomosyn)
Synonyms LGL3, tomosyn 1, 0710001E20Rik, 4930565N16Rik
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # H8562 (G3) of strain 604
Quality Score 225
Status Validated
Chromosome 10
Chromosomal Location 9631291-9776823 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 9645187 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Serine at position 262 (N262S)
Ref Sequence ENSEMBL: ENSMUSP00000123355 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000038213] [ENSMUST00000125200] [ENSMUST00000136324] [ENSMUST00000141722]
AlphaFold Q8K400
Predicted Effect probably benign
Transcript: ENSMUST00000038213
AA Change: N939S

PolyPhen 2 Score 0.021 (Sensitivity: 0.95; Specificity: 0.80)
SMART Domains Protein: ENSMUSP00000044535
Gene: ENSMUSG00000019790
AA Change: N939S

DomainStartEndE-ValueType
low complexity region 17 28 N/A INTRINSIC
WD40 46 86 2.21e1 SMART
WD40 88 127 5.94e0 SMART
WD40 132 171 1.97e2 SMART
WD40 185 225 1.99e0 SMART
WD40 228 266 5.69e-4 SMART
Pfam:LLGL 276 385 2e-36 PFAM
WD40 386 465 2.88e-1 SMART
WD40 491 530 3.68e1 SMART
low complexity region 572 591 N/A INTRINSIC
low complexity region 713 724 N/A INTRINSIC
Pfam:Lgl_C 771 1050 2.7e-8 PFAM
PDB:1URQ|A 1086 1145 2e-33 PDB
Predicted Effect probably benign
Transcript: ENSMUST00000125200
AA Change: N886S

PolyPhen 2 Score 0.190 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000121507
Gene: ENSMUSG00000019790
AA Change: N886S

DomainStartEndE-ValueType
low complexity region 17 28 N/A INTRINSIC
WD40 46 86 2.21e1 SMART
WD40 88 127 5.94e0 SMART
WD40 132 171 1.97e2 SMART
WD40 185 225 1.99e0 SMART
WD40 228 266 5.69e-4 SMART
Pfam:LLGL 273 385 1.6e-46 PFAM
WD40 386 465 2.88e-1 SMART
WD40 491 530 3.68e1 SMART
low complexity region 572 591 N/A INTRINSIC
low complexity region 722 730 N/A INTRINSIC
Pfam:Lgl_C 839 994 1.9e-8 PFAM
PDB:1URQ|A 1033 1092 2e-33 PDB
Predicted Effect noncoding transcript
Transcript: ENSMUST00000128487
Predicted Effect noncoding transcript
Transcript: ENSMUST00000131828
Predicted Effect noncoding transcript
Transcript: ENSMUST00000136259
Predicted Effect probably benign
Transcript: ENSMUST00000136324
AA Change: N262S

PolyPhen 2 Score 0.358 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000123355
Gene: ENSMUSG00000019790
AA Change: N262S

DomainStartEndE-ValueType
low complexity region 98 106 N/A INTRINSIC
low complexity region 209 230 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000141722
AA Change: N903S

PolyPhen 2 Score 0.058 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000123253
Gene: ENSMUSG00000019790
AA Change: N903S

DomainStartEndE-ValueType
low complexity region 17 28 N/A INTRINSIC
WD40 46 86 2.21e1 SMART
WD40 88 127 5.94e0 SMART
WD40 132 171 1.97e2 SMART
WD40 185 225 1.99e0 SMART
WD40 228 266 5.69e-4 SMART
Pfam:LLGL 273 385 1.7e-46 PFAM
WD40 386 465 2.88e-1 SMART
WD40 491 530 3.68e1 SMART
low complexity region 572 591 N/A INTRINSIC
low complexity region 739 747 N/A INTRINSIC
Pfam:Lgl_C 856 1011 2e-8 PFAM
PDB:1URQ|A 1050 1109 2e-33 PDB
Predicted Effect noncoding transcript
Transcript: ENSMUST00000139199
Predicted Effect noncoding transcript
Transcript: ENSMUST00000151435
Predicted Effect noncoding transcript
Transcript: ENSMUST00000148009
Meta Mutation Damage Score 0.0959 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.1%
  • 20x: 95.0%
Validation Efficiency 96% (109/114)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Syntaxin 1 is a component of the 7S and 20S SNARE complexes which are involved in docking and fusion of synaptic vesicles with the presynaptic plasma membrane. This gene encodes a syntaxin 1 binding protein. In rat, a similar protein dissociates syntaxin 1 from the Munc18/n-Sec1/rbSec1 complex to form a 10S complex, an intermediate which can be converted to the 7S SNARE complex. Thus this protein is thought to be involved in neurotransmitter release by stimulating SNARE complex formation. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a null allele exhibit some background sensitive prenatal lethality and increased synaptic transmission. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 109 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2810021J22Rik T C 11: 58,771,717 (GRCm39) C400R probably damaging Het
4930519F16Rik A T X: 102,299,463 (GRCm39) noncoding transcript Het
5430402E10Rik G T X: 76,966,340 (GRCm39) H117Q probably damaging Het
Abca15 T C 7: 119,974,077 (GRCm39) probably benign Het
Abca8a A G 11: 109,933,835 (GRCm39) I1190T probably benign Het
Acmsd T C 1: 127,676,795 (GRCm39) Y107H probably benign Het
Adcy5 A G 16: 35,087,551 (GRCm39) I471V probably damaging Het
Aff2 G A X: 68,892,532 (GRCm39) A939T unknown Het
Ampd2 C A 3: 107,988,427 (GRCm39) A11S probably benign Het
Aoah T A 13: 21,000,694 (GRCm39) C43S probably damaging Het
Apobec4 T C 1: 152,632,925 (GRCm39) S318P probably damaging Het
Arid2 C T 15: 96,267,427 (GRCm39) P636S possibly damaging Het
Atp13a3 A T 16: 30,178,543 (GRCm39) C164* probably null Het
Avl9 G A 6: 56,734,295 (GRCm39) A625T probably damaging Het
Bco1 G T 8: 117,832,386 (GRCm39) probably benign Het
Brd3 C T 2: 27,340,545 (GRCm39) G555S possibly damaging Het
Brd4 A T 17: 32,448,377 (GRCm39) probably benign Het
Btbd7 A G 12: 102,754,561 (GRCm39) V735A probably benign Het
C2cd2 G T 16: 97,680,840 (GRCm39) Q325K possibly damaging Het
Carmil1 A G 13: 24,248,630 (GRCm39) V485A probably benign Het
Casz1 T C 4: 149,017,908 (GRCm39) L113P probably damaging Het
Ccdc3 T C 2: 5,143,016 (GRCm39) L91S probably damaging Het
Cd180 A G 13: 102,841,926 (GRCm39) K324R probably benign Het
Cd200r4 A G 16: 44,653,736 (GRCm39) T132A possibly damaging Het
Cops7a A G 6: 124,939,416 (GRCm39) probably benign Het
Cyp2c29 A T 19: 39,298,106 (GRCm39) N217I probably damaging Het
Dapk1 C A 13: 60,909,126 (GRCm39) H1246Q probably damaging Het
Dmbt1 T A 7: 130,713,805 (GRCm39) C1450* probably null Het
Dnah10 T A 5: 124,906,593 (GRCm39) M4151K probably damaging Het
Dnai1 C A 4: 41,629,833 (GRCm39) F452L possibly damaging Het
Dync1h1 T C 12: 110,583,241 (GRCm39) M446T probably benign Het
Dytn A C 1: 63,714,071 (GRCm39) S143A possibly damaging Het
E130308A19Rik T A 4: 59,691,033 (GRCm39) L289Q possibly damaging Het
Efemp2 G T 19: 5,530,677 (GRCm39) V250L probably benign Het
Elmo1 T C 13: 20,465,033 (GRCm39) S201P probably damaging Het
Fam222b T A 11: 78,045,404 (GRCm39) C194S probably damaging Het
Fam91a1 G A 15: 58,298,970 (GRCm39) probably null Het
Fcf1 T A 12: 85,027,386 (GRCm39) probably benign Het
Fnip1 T A 11: 54,371,123 (GRCm39) F134L probably damaging Het
Fyn T C 10: 39,387,950 (GRCm39) S69P probably benign Het
Gabbr1 T C 17: 37,382,841 (GRCm39) Y845H probably damaging Het
Gfra2 C T 14: 71,215,818 (GRCm39) T169M possibly damaging Het
Gm5435 T C 12: 82,542,449 (GRCm39) noncoding transcript Het
Gm7251 A G 13: 49,959,148 (GRCm39) Y94H probably damaging Het
Gvin3 A G 7: 106,202,356 (GRCm39) F296S probably damaging Het
H2bc15 T C 13: 21,938,648 (GRCm39) V119A probably benign Het
Heatr1 T A 13: 12,423,594 (GRCm39) N530K probably benign Het
Icam5 A T 9: 20,946,442 (GRCm39) E355V probably benign Het
Ighv3-6 A G 12: 114,252,158 (GRCm39) probably benign Het
Intu T C 3: 40,647,103 (GRCm39) S659P probably damaging Het
Ivns1abp T C 1: 151,230,446 (GRCm39) V198A probably damaging Het
Katnb1 T A 8: 95,822,138 (GRCm39) probably benign Het
Kcna5 T C 6: 126,510,386 (GRCm39) S581G probably damaging Het
Kif23 A G 9: 61,831,347 (GRCm39) V741A probably benign Het
Lbr A T 1: 181,648,233 (GRCm39) probably benign Het
Loxhd1 A C 18: 77,429,627 (GRCm39) T508P possibly damaging Het
Lrrk2 T A 15: 91,557,561 (GRCm39) N26K probably benign Het
Ly96 A T 1: 16,761,918 (GRCm39) K41N probably damaging Het
Lypd1 C T 1: 125,838,274 (GRCm39) probably benign Het
Macf1 A G 4: 123,359,833 (GRCm39) V1817A probably benign Het
Mknk2 A G 10: 80,504,768 (GRCm39) probably benign Het
Mmp19 A T 10: 128,631,470 (GRCm39) I117L probably benign Het
Mmrn1 G A 6: 60,935,164 (GRCm39) G220D probably damaging Het
Mtrr T C 13: 68,712,496 (GRCm39) H630R probably damaging Het
Nfat5 T C 8: 108,066,014 (GRCm39) probably benign Het
Ngef C A 1: 87,415,529 (GRCm39) K288N possibly damaging Het
Nkain4 T C 2: 180,584,938 (GRCm39) E71G probably benign Het
Odc1 T C 12: 17,598,038 (GRCm39) Y122H probably benign Het
Or1e25 T C 11: 73,494,273 (GRCm39) I289T probably damaging Het
Or2d2 C A 7: 106,728,448 (GRCm39) A51S probably benign Het
Or8g51 C A 9: 38,609,206 (GRCm39) G156V probably damaging Het
Osbpl3 A T 6: 50,324,446 (GRCm39) N190K probably benign Het
Osgepl1 T C 1: 53,354,198 (GRCm39) V54A probably damaging Het
Otogl T C 10: 107,746,817 (GRCm39) Y19C probably benign Het
Pop1 T C 15: 34,530,358 (GRCm39) S919P probably benign Het
Pramel21 T A 4: 143,341,920 (GRCm39) probably benign Het
Prl8a9 A G 13: 27,746,584 (GRCm39) probably benign Het
Prr14l A T 5: 32,951,072 (GRCm39) V1907D probably damaging Het
Ptprn T C 1: 75,231,264 (GRCm39) T547A possibly damaging Het
Rdh14 G T 12: 10,444,709 (GRCm39) V187F probably damaging Het
Rev1 A G 1: 38,095,848 (GRCm39) L853P probably damaging Het
Robo4 T C 9: 37,317,106 (GRCm39) probably benign Het
Ryr2 A G 13: 11,732,027 (GRCm39) probably benign Het
Sec16a G A 2: 26,331,517 (GRCm39) P166L probably benign Het
Slc6a19 G A 13: 73,848,243 (GRCm39) probably benign Het
Slco4c1 T A 1: 96,770,210 (GRCm39) T285S probably benign Het
Speg G T 1: 75,392,241 (GRCm39) A1633S probably benign Het
Srpk1 T A 17: 28,821,707 (GRCm39) T236S probably benign Het
Suco T C 1: 161,680,420 (GRCm39) E317G probably damaging Het
Syk A G 13: 52,794,657 (GRCm39) N441D probably damaging Het
Syt17 T C 7: 118,007,292 (GRCm39) K334R probably benign Het
Sytl5 A T X: 9,826,335 (GRCm39) H436L probably benign Het
Tasor2 A T 13: 3,627,000 (GRCm39) S983R probably damaging Het
Thada A G 17: 84,753,972 (GRCm39) L333P probably damaging Het
Thap12 T C 7: 98,364,314 (GRCm39) Y161H probably damaging Het
Thbs2 C T 17: 14,891,715 (GRCm39) V941I probably benign Het
Tktl1 A T X: 73,225,470 (GRCm39) E72V probably damaging Het
Tm4sf5 T A 11: 70,396,338 (GRCm39) probably benign Het
Urb1 T A 16: 90,566,357 (GRCm39) M1477L probably benign Het
Vcp T A 4: 42,982,596 (GRCm39) I699F probably damaging Het
Vmn1r232 T C 17: 21,133,656 (GRCm39) T315A probably benign Het
Vmn2r100 T A 17: 19,741,752 (GRCm39) W155R possibly damaging Het
Vmn2r19 T C 6: 123,292,861 (GRCm39) I301T possibly damaging Het
Wwc2 A G 8: 48,373,701 (GRCm39) V55A possibly damaging Het
Xirp2 A G 2: 67,345,801 (GRCm39) T2681A probably benign Het
Zfp39 C A 11: 58,791,512 (GRCm39) L58F probably damaging Het
Zfp612 T C 8: 110,816,670 (GRCm39) F587L probably damaging Het
Zfp810 T C 9: 22,190,387 (GRCm39) R174G probably benign Het
Zfta A G 19: 7,400,286 (GRCm39) K251E probably benign Het
Other mutations in Stxbp5
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00466:Stxbp5 APN 10 9,675,694 (GRCm39) missense probably damaging 1.00
IGL00950:Stxbp5 APN 10 9,684,346 (GRCm39) splice site probably benign
IGL01725:Stxbp5 APN 10 9,693,155 (GRCm39) missense probably damaging 1.00
IGL02150:Stxbp5 APN 10 9,638,565 (GRCm39) missense probably damaging 1.00
IGL02339:Stxbp5 APN 10 9,692,041 (GRCm39) missense possibly damaging 0.89
IGL02697:Stxbp5 APN 10 9,638,700 (GRCm39) nonsense probably null
IGL02720:Stxbp5 APN 10 9,665,105 (GRCm39) critical splice donor site probably null
IGL03155:Stxbp5 APN 10 9,692,034 (GRCm39) missense probably null 1.00
IGL03288:Stxbp5 APN 10 9,742,447 (GRCm39) splice site probably null
Fatty_fish UTSW 10 9,646,295 (GRCm39) missense probably damaging 1.00
reindeer UTSW 10 9,713,836 (GRCm39) missense probably damaging 1.00
PIT4544001:Stxbp5 UTSW 10 9,693,048 (GRCm39) critical splice donor site probably null
R0025:Stxbp5 UTSW 10 9,638,492 (GRCm39) missense probably damaging 1.00
R0025:Stxbp5 UTSW 10 9,638,492 (GRCm39) missense probably damaging 1.00
R0219:Stxbp5 UTSW 10 9,646,272 (GRCm39) missense probably benign 0.36
R0226:Stxbp5 UTSW 10 9,742,442 (GRCm39) splice site probably benign
R0631:Stxbp5 UTSW 10 9,660,102 (GRCm39) missense probably benign
R0723:Stxbp5 UTSW 10 9,644,617 (GRCm39) missense probably damaging 1.00
R0833:Stxbp5 UTSW 10 9,740,843 (GRCm39) missense probably damaging 1.00
R0836:Stxbp5 UTSW 10 9,740,843 (GRCm39) missense probably damaging 1.00
R0863:Stxbp5 UTSW 10 9,684,784 (GRCm39) missense possibly damaging 0.86
R1225:Stxbp5 UTSW 10 9,688,135 (GRCm39) missense possibly damaging 0.94
R1271:Stxbp5 UTSW 10 9,692,013 (GRCm39) missense probably damaging 1.00
R1536:Stxbp5 UTSW 10 9,713,836 (GRCm39) missense probably damaging 1.00
R1852:Stxbp5 UTSW 10 9,688,042 (GRCm39) missense possibly damaging 0.94
R1884:Stxbp5 UTSW 10 9,688,042 (GRCm39) missense possibly damaging 0.94
R1902:Stxbp5 UTSW 10 9,688,042 (GRCm39) missense possibly damaging 0.94
R1917:Stxbp5 UTSW 10 9,688,042 (GRCm39) missense possibly damaging 0.94
R1918:Stxbp5 UTSW 10 9,688,042 (GRCm39) missense possibly damaging 0.94
R2174:Stxbp5 UTSW 10 9,711,590 (GRCm39) missense possibly damaging 0.69
R3773:Stxbp5 UTSW 10 9,644,671 (GRCm39) missense probably damaging 1.00
R3901:Stxbp5 UTSW 10 9,645,163 (GRCm39) missense probably damaging 1.00
R3981:Stxbp5 UTSW 10 9,665,060 (GRCm39) intron probably benign
R4572:Stxbp5 UTSW 10 9,713,888 (GRCm39) missense probably damaging 0.99
R4764:Stxbp5 UTSW 10 9,646,367 (GRCm39) missense probably damaging 1.00
R4841:Stxbp5 UTSW 10 9,638,635 (GRCm39) missense probably benign 0.06
R4842:Stxbp5 UTSW 10 9,638,635 (GRCm39) missense probably benign 0.06
R4884:Stxbp5 UTSW 10 9,688,085 (GRCm39) nonsense probably null
R4887:Stxbp5 UTSW 10 9,684,844 (GRCm39) missense probably benign
R4930:Stxbp5 UTSW 10 9,636,610 (GRCm39) utr 3 prime probably benign
R5065:Stxbp5 UTSW 10 9,646,295 (GRCm39) missense probably damaging 1.00
R5285:Stxbp5 UTSW 10 9,674,019 (GRCm39) critical splice acceptor site probably null
R5306:Stxbp5 UTSW 10 9,675,735 (GRCm39) missense probably damaging 1.00
R5455:Stxbp5 UTSW 10 9,684,252 (GRCm39) missense probably benign
R5531:Stxbp5 UTSW 10 9,638,668 (GRCm39) nonsense probably null
R5605:Stxbp5 UTSW 10 9,645,490 (GRCm39) intron probably benign
R5614:Stxbp5 UTSW 10 9,636,638 (GRCm39) utr 3 prime probably benign
R5805:Stxbp5 UTSW 10 9,776,330 (GRCm39) missense probably benign
R5990:Stxbp5 UTSW 10 9,711,677 (GRCm39) missense probably damaging 1.00
R6025:Stxbp5 UTSW 10 9,675,772 (GRCm39) missense probably benign 0.00
R6056:Stxbp5 UTSW 10 9,646,430 (GRCm39) missense probably benign 0.00
R6147:Stxbp5 UTSW 10 9,684,216 (GRCm39) missense possibly damaging 0.93
R6194:Stxbp5 UTSW 10 9,693,083 (GRCm39) missense probably damaging 0.99
R6284:Stxbp5 UTSW 10 9,642,931 (GRCm39) missense probably damaging 1.00
R6284:Stxbp5 UTSW 10 9,642,923 (GRCm39) missense probably benign 0.32
R6394:Stxbp5 UTSW 10 9,774,975 (GRCm39) nonsense probably null
R6427:Stxbp5 UTSW 10 9,774,998 (GRCm39) missense probably damaging 1.00
R6894:Stxbp5 UTSW 10 9,660,105 (GRCm39) missense probably benign 0.00
R7229:Stxbp5 UTSW 10 9,673,931 (GRCm39) missense probably damaging 1.00
R7337:Stxbp5 UTSW 10 9,684,874 (GRCm39) missense possibly damaging 0.93
R7686:Stxbp5 UTSW 10 9,645,154 (GRCm39) missense probably damaging 0.99
R7811:Stxbp5 UTSW 10 9,684,248 (GRCm39) missense probably benign
R7974:Stxbp5 UTSW 10 9,646,439 (GRCm39) splice site probably null
R8009:Stxbp5 UTSW 10 9,692,046 (GRCm39) missense probably damaging 1.00
R8287:Stxbp5 UTSW 10 9,660,129 (GRCm39) missense probably benign
R8353:Stxbp5 UTSW 10 9,684,792 (GRCm39) missense probably benign 0.30
R8360:Stxbp5 UTSW 10 9,688,003 (GRCm39) critical splice donor site probably null
R8453:Stxbp5 UTSW 10 9,684,792 (GRCm39) missense probably benign 0.30
R8487:Stxbp5 UTSW 10 9,688,033 (GRCm39) missense possibly damaging 0.80
R8548:Stxbp5 UTSW 10 9,693,050 (GRCm39) missense probably null 0.98
R8805:Stxbp5 UTSW 10 9,713,859 (GRCm39) nonsense probably null
R9172:Stxbp5 UTSW 10 9,645,152 (GRCm39) missense possibly damaging 0.94
R9472:Stxbp5 UTSW 10 9,719,101 (GRCm39) missense probably damaging 1.00
R9513:Stxbp5 UTSW 10 9,687,754 (GRCm39) missense probably benign 0.17
R9649:Stxbp5 UTSW 10 9,774,938 (GRCm39) missense probably damaging 0.96
X0020:Stxbp5 UTSW 10 9,638,634 (GRCm39) missense possibly damaging 0.47
Z1176:Stxbp5 UTSW 10 9,776,289 (GRCm39) missense possibly damaging 0.88
Predicted Primers PCR Primer
(F):5'- CCTGGCTATCCGCATGTTGGTAAG -3'
(R):5'- CTCCTGCATACGAACCCTGGAAAG -3'

Sequencing Primer
(F):5'- TCAGAAGCCACTACTCTGAATG -3'
(R):5'- TACGAACCCTGGAAAGAACAC -3'
Posted On 2013-06-11