Incidental Mutation 'R5285:Stxbp5'
ID 475444
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 042869-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R5285 (G1)
Quality Score 225
Status Validated
Chromosome 10
Chromosomal Location 9631291-9776823 bp(-) (GRCm39)
Type of Mutation critical splice acceptor site
DNA Base Change (assembly) T to C at 9674019 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000123253 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000038213] [ENSMUST00000125200] [ENSMUST00000136324] [ENSMUST00000141722]
AlphaFold Q8K400
Predicted Effect probably null
Transcript: ENSMUST00000038213
SMART Domains Protein: ENSMUSP00000044535
Gene: ENSMUSG00000019790

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 null
Transcript: ENSMUST00000125200
SMART Domains Protein: ENSMUSP00000121507
Gene: ENSMUSG00000019790

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 null
Transcript: ENSMUST00000141722
SMART Domains Protein: ENSMUSP00000123253
Gene: ENSMUSG00000019790

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
Meta Mutation Damage Score 0.9493 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 95.2%
Validation Efficiency 98% (65/66)
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: 63 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933405L10Rik A G 8: 106,435,097 (GRCm39) T12A probably benign Het
Acbd6 T A 1: 155,434,471 (GRCm39) S30T probably benign Het
Adcy8 G T 15: 64,639,706 (GRCm39) H685N possibly damaging Het
Aldh1l1 A T 6: 90,553,752 (GRCm39) K539* probably null Het
Ap1m2 G T 9: 21,216,933 (GRCm39) Y134* probably null Het
Apobr A G 7: 126,184,175 (GRCm39) probably benign Het
Atl1 A G 12: 70,001,273 (GRCm39) K345R probably benign Het
Avil T C 10: 126,854,328 (GRCm39) L765P probably damaging Het
Caps2 T A 10: 112,044,216 (GRCm39) Y472N probably benign Het
Catspere2 A G 1: 177,931,454 (GRCm39) K458E unknown Het
Cd177 A T 7: 24,445,674 (GRCm39) S590T probably benign Het
Cep295 T C 9: 15,233,887 (GRCm39) D2223G probably benign Het
Cfh T C 1: 140,028,636 (GRCm39) T493A probably benign Het
Chek1 T C 9: 36,625,748 (GRCm39) D299G probably benign Het
Cpox G A 16: 58,495,649 (GRCm39) G322D probably damaging Het
Crhr1 A T 11: 104,061,323 (GRCm39) I243F possibly damaging Het
Cyp3a11 A G 5: 145,791,893 (GRCm39) V500A probably benign Het
Dcdc5 A T 2: 106,198,500 (GRCm39) noncoding transcript Het
Ergic3 A G 2: 155,859,957 (GRCm39) probably benign Het
Fabp3-ps1 T G 10: 86,568,066 (GRCm39) probably benign Het
Gm6445 C A 19: 9,585,032 (GRCm39) noncoding transcript Het
Gucy2d C A 7: 98,107,474 (GRCm39) probably null Het
Ighv1-19-1 C A 12: 114,667,872 (GRCm39) probably benign Het
Igkv2-116 G T 6: 68,129,463 (GRCm39) R75L probably benign Het
Inhbc C A 10: 127,193,269 (GRCm39) R249L probably damaging Het
Lrrn2 T A 1: 132,866,983 (GRCm39) S683T possibly damaging Het
Lyst T C 13: 13,809,011 (GRCm39) V227A probably benign Het
Mroh5 TGGAG TG 15: 73,654,923 (GRCm39) probably benign Het
Msh4 T C 3: 153,579,350 (GRCm39) N587S probably benign Het
Mug1 G A 6: 121,818,066 (GRCm39) E126K probably benign Het
Nav2 T C 7: 49,197,982 (GRCm39) S1204P probably damaging Het
Ncor1 A G 11: 62,283,475 (GRCm39) I413T probably damaging Het
Nipa2 A T 7: 55,582,760 (GRCm39) Y328* probably null Het
Or1e25 T A 11: 73,493,767 (GRCm39) Y120* probably null Het
Or51a24 A G 7: 103,733,340 (GRCm39) *316R probably null Het
Or52s1 C T 7: 102,862,005 (GRCm39) R302* probably null Het
Or5k15 A T 16: 58,710,471 (GRCm39) Y37* probably null Het
Or5k3 T C 16: 58,969,633 (GRCm39) L140P probably damaging Het
Pla2g4e T C 2: 120,019,985 (GRCm39) D155G probably damaging Het
Plxnb1 C T 9: 108,937,527 (GRCm39) T1176I probably damaging Het
Polg A G 7: 79,114,973 (GRCm39) probably benign Het
Prl8a2 G A 13: 27,534,116 (GRCm39) probably null Het
Prmt7 G A 8: 106,974,991 (GRCm39) R529Q probably benign Het
Psg17 T A 7: 18,554,126 (GRCm39) L41F probably benign Het
Rad18 T C 6: 112,663,726 (GRCm39) R73G probably benign Het
Rhpn2 G T 7: 35,080,990 (GRCm39) probably benign Het
Robo4 CGG CG 9: 37,322,786 (GRCm39) probably null Het
Sarm1 A G 11: 78,388,265 (GRCm39) F7S probably benign Het
Sgip1 T A 4: 102,778,674 (GRCm39) probably benign Het
Sh3gl2 A G 4: 85,294,686 (GRCm39) K99R probably benign Het
Sorbs1 G A 19: 40,310,334 (GRCm39) T1018I probably damaging Het
Spns2 G A 11: 72,380,305 (GRCm39) A106V possibly damaging Het
Stab1 A G 14: 30,865,433 (GRCm39) probably benign Het
Steap3 T C 1: 120,169,610 (GRCm39) D191G probably damaging Het
Sycp2 A T 2: 178,034,191 (GRCm39) probably null Het
Tm6sf1 A G 7: 81,509,200 (GRCm39) S2G possibly damaging Het
Usp24 T A 4: 106,264,230 (GRCm39) D1720E probably benign Het
Vmn1r200 G A 13: 22,579,457 (GRCm39) E78K possibly damaging Het
Vmn2r120 A G 17: 57,843,703 (GRCm39) L47P probably damaging Het
Vmn2r14 T C 5: 109,365,442 (GRCm39) N544S probably damaging Het
Vwa1 C T 4: 155,855,352 (GRCm39) A254T probably benign Het
Zfp7 G A 15: 76,775,422 (GRCm39) R488Q probably damaging Het
Zfp940 A T 7: 29,545,025 (GRCm39) L294H 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
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'- CCAGCAGTTAAGGCTCAGTG -3'
(R):5'- CTGAGGCAAATCCCCAGATTC -3'

Sequencing Primer
(F):5'- AGTGAGCTTTCCTTTCTGTTTACC -3'
(R):5'- ATCCCCAGATTCCAAGGTGG -3'
Posted On 2017-04-21