Incidental Mutation 'R6284:Stxbp5'
ID 508121
Institutional Source Beutler Lab
Gene Symbol Stxbp5
Ensembl Gene ENSMUSG00000019790
Gene Name syntaxin binding protein 5 (tomosyn)
Synonyms LGL3, tomosyn 1, 0710001E20Rik, 4930565N16Rik
MMRRC Submission 044454-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R6284 (G1)
Quality Score 225.009
Status Validated
Chromosome 10
Chromosomal Location 9631291-9776823 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to C at 9642923 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Alanine at position 1059 (S1059A)
Ref Sequence ENSEMBL: ENSMUSP00000044535 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000038213] [ENSMUST00000125200] [ENSMUST00000136324] [ENSMUST00000141722]
AlphaFold Q8K400
Predicted Effect probably benign
Transcript: ENSMUST00000038213
AA Change: S1059A

PolyPhen 2 Score 0.323 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000044535
Gene: ENSMUSG00000019790
AA Change: S1059A

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: S1006A

PolyPhen 2 Score 0.022 (Sensitivity: 0.95; Specificity: 0.81)
SMART Domains Protein: ENSMUSP00000121507
Gene: ENSMUSG00000019790
AA Change: S1006A

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
SMART Domains Protein: ENSMUSP00000123355
Gene: ENSMUSG00000019790

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: S1023A

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
SMART Domains Protein: ENSMUSP00000123253
Gene: ENSMUSG00000019790
AA Change: S1023A

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: ENSMUST00000151435
Predicted Effect noncoding transcript
Transcript: ENSMUST00000139199
Predicted Effect noncoding transcript
Transcript: ENSMUST00000148009
Meta Mutation Damage Score 0.1508 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.3%
  • 20x: 95.2%
Validation Efficiency 100% (64/64)
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: 61 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
0610030E20Rik G T 6: 72,324,437 (GRCm39) G16C probably damaging Het
Abca7 G A 10: 79,840,244 (GRCm39) V801I probably benign Het
Adgrl2 A T 3: 148,532,143 (GRCm39) L1030Q probably damaging Het
Akap1 T C 11: 88,735,394 (GRCm39) T423A possibly damaging Het
Anpep T A 7: 79,475,550 (GRCm39) D111V probably damaging Het
Atm T A 9: 53,356,676 (GRCm39) probably null Het
Atp5f1a T A 18: 77,866,168 (GRCm39) S106T probably benign Het
Atp5me T C 5: 108,581,925 (GRCm39) I20V probably benign Het
Atp6v0d2 T A 4: 19,922,605 (GRCm39) probably null Het
Bclaf1 T G 10: 20,197,906 (GRCm39) probably null Het
Bod1l A G 5: 41,976,130 (GRCm39) V1728A probably benign Het
Braf A G 6: 39,665,216 (GRCm39) F51L possibly damaging Het
Camsap2 A G 1: 136,232,175 (GRCm39) I140T possibly damaging Het
Ccdc24 A T 4: 117,726,850 (GRCm39) probably null Het
Cdh26 G C 2: 178,091,677 (GRCm39) G79R probably damaging Het
Cenpf A G 1: 189,384,939 (GRCm39) L2447P probably damaging Het
Cfap74 T C 4: 155,536,253 (GRCm39) F863L probably damaging Het
Clstn2 C T 9: 97,336,727 (GRCm39) G917S probably benign Het
Col6a6 A T 9: 105,604,426 (GRCm39) probably null Het
Cul5 G A 9: 53,535,035 (GRCm39) P596L probably damaging Het
Dst A T 1: 34,268,166 (GRCm39) R2863W probably damaging Het
Dthd1 A G 5: 62,971,384 (GRCm39) E69G possibly damaging Het
Elp1 A T 4: 56,762,281 (GRCm39) I1106K probably damaging Het
Erich2 T A 2: 70,370,028 (GRCm39) I402N probably damaging Het
Fam162b T C 10: 51,461,598 (GRCm39) K155R probably damaging Het
Fhip1a G A 3: 85,579,995 (GRCm39) P737S probably benign Het
Glb1l2 A T 9: 26,678,744 (GRCm39) S466T probably benign Het
Kazn G A 4: 141,844,508 (GRCm39) L402F probably benign Het
Kcnj13 A T 1: 87,314,608 (GRCm39) S205T probably damaging Het
Lama1 T A 17: 68,117,091 (GRCm39) V2462E probably damaging Het
Lce1b A C 3: 92,563,411 (GRCm39) C41G unknown Het
Lyar T A 5: 38,383,339 (GRCm39) W77R probably damaging Het
Marchf11 G A 15: 26,409,432 (GRCm39) R377Q probably benign Het
Mis18bp1 A G 12: 65,185,561 (GRCm39) F869L probably benign Het
Myom1 T A 17: 71,329,887 (GRCm39) Y6* probably null Het
Myzap T C 9: 71,466,207 (GRCm39) I150V probably benign Het
Nop14 C T 5: 34,798,835 (GRCm39) probably null Het
Oprl1 T A 2: 181,359,784 (GRCm39) probably benign Het
Pacsin1 T C 17: 27,927,478 (GRCm39) L432P probably damaging Het
Peak1 A G 9: 56,167,580 (GRCm39) L116P probably benign Het
Plcb2 C T 2: 118,547,782 (GRCm39) V482M probably benign Het
Pnliprp1 T A 19: 58,723,416 (GRCm39) I269N probably damaging Het
Pnpla7 C A 2: 24,906,630 (GRCm39) D664E possibly damaging Het
Ppa2 G A 3: 133,076,178 (GRCm39) R269H probably benign Het
Rps6kb2 G T 19: 4,211,186 (GRCm39) T113K probably benign Het
Rrp7a A T 15: 83,006,061 (GRCm39) I63N probably damaging Het
Slc29a1 A G 17: 45,900,847 (GRCm39) probably null Het
Slco1a7 T C 6: 141,671,119 (GRCm39) D451G probably damaging Het
Taldo1 T A 7: 140,978,496 (GRCm39) S149T possibly damaging Het
Tlr1 T C 5: 65,084,442 (GRCm39) D45G possibly damaging Het
Tnrc6a T C 7: 122,770,558 (GRCm39) S783P probably damaging Het
Trap1 A G 16: 3,878,673 (GRCm39) Y220H probably benign Het
Trpc6 A G 9: 8,643,601 (GRCm39) D462G possibly damaging Het
Ttc21a A G 9: 119,773,028 (GRCm39) E235G probably damaging Het
Tubb4a A G 17: 57,387,833 (GRCm39) Y398H probably damaging Het
Ube2z A G 11: 95,941,233 (GRCm39) F303S probably damaging Het
Vmn1r211 A G 13: 23,036,254 (GRCm39) S138P probably damaging Het
Zfp1002 T A 2: 150,097,198 (GRCm39) Y77F possibly damaging Het
Zfp93 T A 7: 23,975,054 (GRCm39) C346* probably null Het
Zfp938 A T 10: 82,063,400 (GRCm39) S52R possibly damaging Het
Zp1 A T 19: 10,893,867 (GRCm39) L446Q probably damaging 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
H8562:Stxbp5 UTSW 10 9,645,187 (GRCm39) missense probably benign 0.36
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
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'- TCTGTTGCCATTCGAAGTTATGC -3'
(R):5'- GAATGTGCTCACTGCCTGTTG -3'

Sequencing Primer
(F):5'- CCATTCGAAGTTATGCTGATTTTG -3'
(R):5'- TTGGTGGACCTCAAGGGAACC -3'
Posted On 2018-03-15