Incidental Mutation 'R6025:Stxbp5'
ID 479982
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 044197-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R6025 (G1)
Quality Score 225.009
Status Not validated
Chromosome 10
Chromosomal Location 9631291-9776823 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 9675772 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Serine at position 616 (T616S)
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: T616S

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000044535
Gene: ENSMUSG00000019790
AA Change: T616S

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: T616S

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000121507
Gene: ENSMUSG00000019790
AA Change: T616S

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 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 noncoding transcript
Transcript: ENSMUST00000139779
Predicted Effect probably benign
Transcript: ENSMUST00000141722
AA Change: T616S

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000123253
Gene: ENSMUSG00000019790
AA Change: T616S

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
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.5%
  • 10x: 97.4%
  • 20x: 92.0%
Validation Efficiency
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: 62 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2310033P09Rik GC G 11: 59,101,139 (GRCm39) probably null Het
Acvr1b C A 15: 101,092,856 (GRCm39) D166E probably benign Het
Adgra2 T C 8: 27,604,491 (GRCm39) I522T probably damaging Het
Adgre4 C T 17: 56,099,013 (GRCm39) S173L probably benign Het
Akap9 A T 5: 4,082,801 (GRCm39) Q1975L probably damaging Het
Ap3d1 T A 10: 80,546,298 (GRCm39) M965L probably benign Het
Brca2 CATA CA 5: 150,465,040 (GRCm39) probably null Het
Chd6 T C 2: 160,807,502 (GRCm39) N1904S probably benign Het
Clstn3 A T 6: 124,408,623 (GRCm39) S896R possibly damaging Het
Col6a3 T A 1: 90,755,824 (GRCm39) D155V probably damaging Het
Dct T C 14: 118,273,876 (GRCm39) T344A possibly damaging Het
Dctn1 T A 6: 83,170,673 (GRCm39) probably null Het
Dgkz T C 2: 91,776,255 (GRCm39) T3A possibly damaging Het
Duoxa2 T C 2: 122,132,332 (GRCm39) S249P possibly damaging Het
Ehbp1 A T 11: 22,189,156 (GRCm39) V82E probably damaging Het
Fcho1 A T 8: 72,165,217 (GRCm39) probably null Het
Garin5b T A 7: 4,761,143 (GRCm39) D523V probably benign Het
Ifi213 T A 1: 173,422,800 (GRCm39) N22Y probably damaging Het
Kcnq1 T A 7: 142,660,170 (GRCm39) probably benign Het
Kif7 T A 7: 79,354,388 (GRCm39) Q799L probably benign Het
Lmnb1 T A 18: 56,862,456 (GRCm39) L206* probably null Het
Lonp2 G T 8: 87,440,001 (GRCm39) G247V probably damaging Het
Ly75 T C 2: 60,206,306 (GRCm39) Y121C probably damaging Het
Mboat1 C A 13: 30,408,509 (GRCm39) T224K probably benign Het
Mcm9 T C 10: 53,492,073 (GRCm39) E416G possibly damaging Het
Mtnr1b A T 9: 15,774,093 (GRCm39) I322N probably damaging Het
Nanog G A 6: 122,690,350 (GRCm39) G227R possibly damaging Het
Nbn T C 4: 15,981,347 (GRCm39) S480P probably damaging Het
Nek10 C A 14: 14,865,633 (GRCm38) L638M probably benign Het
Nelfcd T C 2: 174,268,611 (GRCm39) V538A probably damaging Het
Or1e33 A T 11: 73,738,745 (GRCm39) S69T probably benign Het
Or2b4 T G 17: 38,116,312 (GRCm39) I92S probably damaging Het
Or52a5b T C 7: 103,417,416 (GRCm39) I63V probably benign Het
Or5b97 T A 19: 12,879,034 (GRCm39) T37S probably benign Het
Phf24 G A 4: 42,938,780 (GRCm39) probably null Het
Pigz T C 16: 31,764,528 (GRCm39) S529P probably damaging Het
Pik3r5 A G 11: 68,383,144 (GRCm39) E321G probably damaging Het
Plcb3 G A 19: 6,933,547 (GRCm39) T926I probably benign Het
Pm20d2 G A 4: 33,181,833 (GRCm39) P257S probably damaging Het
Pon2 A G 6: 5,289,057 (GRCm39) V34A probably benign Het
Prkar2b A G 12: 32,110,855 (GRCm39) F76S possibly damaging Het
Prpf31 G A 7: 3,642,668 (GRCm39) E414K probably benign Het
Rsf1 CG CGACGGCGGTG 7: 97,229,115 (GRCm39) probably benign Het
Setbp1 A T 18: 78,902,455 (GRCm39) L404Q probably damaging Het
Slc26a11 C T 11: 119,265,654 (GRCm39) A389V probably damaging Het
Slc2a1 A T 4: 118,993,539 (GRCm39) T459S possibly damaging Het
Spi1 T C 2: 90,944,685 (GRCm39) L135P probably benign Het
Sspo T C 6: 48,463,720 (GRCm39) L3844P possibly damaging Het
Syde2 A G 3: 145,712,896 (GRCm39) probably null Het
Synm G T 7: 67,384,686 (GRCm39) A550D possibly damaging Het
Tanc2 T C 11: 105,787,373 (GRCm39) V891A possibly damaging Het
Tanc2 G A 11: 105,758,543 (GRCm39) R768Q probably damaging Het
Tlx1 A T 19: 45,144,413 (GRCm39) Q45L probably damaging Het
Tmem104 C A 11: 115,096,349 (GRCm39) Y191* probably null Het
Tmem17 A C 11: 22,468,659 (GRCm39) *199C probably null Het
Tns3 A T 11: 8,442,578 (GRCm39) M595K possibly damaging Het
Tyk2 A G 9: 21,027,256 (GRCm39) V538A probably benign Het
Unc80 A G 1: 66,734,727 (GRCm39) D3250G possibly damaging Het
Usp4 A G 9: 108,237,322 (GRCm39) H130R possibly damaging Het
Zfhx2 T C 14: 55,302,665 (GRCm39) Q1773R probably benign Het
Zfp790 A G 7: 29,528,970 (GRCm39) K552E possibly damaging Het
Zswim5 G A 4: 116,808,106 (GRCm39) R230Q 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
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'- GGTGATGATACAACAAATCCTAAGC -3'
(R):5'- CACCTAGGCATGTGTTCCTG -3'

Sequencing Primer
(F):5'- GGGAATACTCTAAAGAGACTGAG -3'
(R):5'- CCTGTTTACTGCAAGGTCAAAC -3'
Posted On 2017-06-26