Incidental Mutation 'R1536:Stxbp5'
| ID |
169537 |
| 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 |
039575-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R1536 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
10 |
| Chromosomal Location |
9631291-9776823 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 9713836 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Serine
at position 234
(R234S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000121507
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000038213]
[ENSMUST00000125200]
[ENSMUST00000141722]
|
| AlphaFold |
Q8K400 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000038213
AA Change: R234S
PolyPhen 2
Score 0.972 (Sensitivity: 0.77; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000044535
Gene: ENSMUSG00000019790
AA Change: R234S
| Domain | Start | End | E-Value | Type |
|---|
|
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 damaging
Transcript: ENSMUST00000125200
AA Change: R234S
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000121507
Gene: ENSMUSG00000019790
AA Change: R234S
| Domain | Start | End | E-Value | Type |
|---|
|
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: ENSMUST00000141722
AA Change: R234S
PolyPhen 2
Score 0.074 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000123253
Gene: ENSMUSG00000019790
AA Change: R234S
| Domain | Start | End | E-Value | Type |
|---|
|
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 |
|
| Meta Mutation Damage Score |
0.3779 |
| Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.0%
- 10x: 95.3%
- 20x: 89.5%
|
| Validation Efficiency |
98% (59/60) |
| 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: 55 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2310003L06Rik |
A |
T |
5: 88,118,524 (GRCm39) |
I3F |
probably benign |
Het |
| 4930590J08Rik |
A |
G |
6: 91,894,016 (GRCm39) |
N211S |
probably benign |
Het |
| A2ml1 |
A |
T |
6: 128,524,196 (GRCm39) |
Y1145* |
probably null |
Het |
| Abca7 |
A |
G |
10: 79,850,064 (GRCm39) |
D1972G |
probably benign |
Het |
| Adamts19 |
A |
T |
18: 59,185,687 (GRCm39) |
D1187V |
probably damaging |
Het |
| Adcy6 |
G |
C |
15: 98,497,888 (GRCm39) |
I421M |
probably damaging |
Het |
| Afap1 |
C |
A |
5: 36,131,835 (GRCm39) |
H387Q |
probably damaging |
Het |
| Atp8b1 |
C |
T |
18: 64,678,335 (GRCm39) |
V854M |
probably damaging |
Het |
| Auts2 |
C |
T |
5: 131,516,302 (GRCm39) |
|
probably benign |
Het |
| Cbll1 |
T |
C |
12: 31,537,855 (GRCm39) |
D300G |
probably damaging |
Het |
| Cd200r4 |
A |
T |
16: 44,653,412 (GRCm39) |
T61S |
possibly damaging |
Het |
| Chmp4c |
G |
T |
3: 10,454,744 (GRCm39) |
V207L |
probably benign |
Het |
| Cntn5 |
T |
C |
9: 9,976,321 (GRCm39) |
T413A |
possibly damaging |
Het |
| Cox7a2 |
T |
A |
9: 79,665,863 (GRCm39) |
|
probably null |
Het |
| Cwc27 |
A |
G |
13: 104,933,814 (GRCm39) |
L236P |
probably damaging |
Het |
| Diaph1 |
A |
G |
18: 38,029,146 (GRCm39) |
|
probably null |
Het |
| Dst |
T |
A |
1: 34,299,453 (GRCm39) |
|
probably benign |
Het |
| Ear1 |
T |
A |
14: 44,056,583 (GRCm39) |
H95L |
probably damaging |
Het |
| Enpp1 |
T |
A |
10: 24,517,732 (GRCm39) |
H898L |
probably benign |
Het |
| Entpd5 |
G |
A |
12: 84,429,069 (GRCm39) |
R321* |
probably null |
Het |
| Ercc6l2 |
C |
A |
13: 63,972,685 (GRCm39) |
N177K |
possibly damaging |
Het |
| Ergic1 |
T |
C |
17: 26,860,680 (GRCm39) |
|
probably null |
Het |
| Erich6 |
A |
T |
3: 58,534,019 (GRCm39) |
I336N |
probably benign |
Het |
| Fmnl2 |
A |
G |
2: 52,995,549 (GRCm39) |
E424G |
probably damaging |
Het |
| Galnt3 |
A |
T |
2: 65,914,550 (GRCm39) |
D622E |
probably damaging |
Het |
| Gjd4 |
T |
A |
18: 9,280,569 (GRCm39) |
T170S |
probably damaging |
Het |
| Gm5611 |
G |
A |
9: 16,941,903 (GRCm39) |
|
noncoding transcript |
Het |
| Gpc5 |
T |
A |
14: 115,636,662 (GRCm39) |
N448K |
probably benign |
Het |
| Klra3 |
G |
C |
6: 130,310,107 (GRCm39) |
R138G |
probably benign |
Het |
| Maco1 |
A |
G |
4: 134,531,818 (GRCm39) |
V617A |
probably damaging |
Het |
| Man2b2 |
T |
C |
5: 36,978,271 (GRCm39) |
T338A |
probably benign |
Het |
| Mbtps1 |
A |
T |
8: 120,272,864 (GRCm39) |
S94T |
probably benign |
Het |
| Muc3a |
A |
T |
5: 137,244,538 (GRCm39) |
S205T |
unknown |
Het |
| Nav2 |
C |
A |
7: 49,195,682 (GRCm39) |
D1019E |
probably damaging |
Het |
| Neurl4 |
T |
A |
11: 69,794,252 (GRCm39) |
L236* |
probably null |
Het |
| Or13c25 |
A |
G |
4: 52,911,260 (GRCm39) |
V178A |
probably benign |
Het |
| Plcxd3 |
T |
C |
15: 4,546,093 (GRCm39) |
|
probably benign |
Het |
| Pprc1 |
T |
C |
19: 46,059,965 (GRCm39) |
|
probably benign |
Het |
| Prkaa2 |
T |
A |
4: 104,932,647 (GRCm39) |
N67I |
probably damaging |
Het |
| Prom1 |
T |
A |
5: 44,175,695 (GRCm39) |
Y508F |
probably benign |
Het |
| Prx |
A |
G |
7: 27,216,683 (GRCm39) |
M534V |
probably damaging |
Het |
| Rps6kc1 |
C |
T |
1: 190,603,965 (GRCm39) |
R219Q |
possibly damaging |
Het |
| Sbf2 |
T |
C |
7: 109,977,250 (GRCm39) |
Y628C |
probably damaging |
Het |
| Slc1a2 |
A |
T |
2: 102,607,855 (GRCm39) |
D501V |
probably benign |
Het |
| Spata31 |
A |
T |
13: 65,069,196 (GRCm39) |
Q448L |
probably damaging |
Het |
| Stk35 |
T |
C |
2: 129,653,155 (GRCm39) |
|
probably benign |
Het |
| Tifab |
A |
G |
13: 56,324,101 (GRCm39) |
V114A |
probably benign |
Het |
| Tiprl |
A |
G |
1: 165,055,975 (GRCm39) |
M49T |
probably benign |
Het |
| Tlr12 |
A |
G |
4: 128,511,545 (GRCm39) |
L235P |
possibly damaging |
Het |
| Trim43b |
A |
T |
9: 88,967,411 (GRCm39) |
C407* |
probably null |
Het |
| Txndc17 |
C |
A |
11: 72,098,533 (GRCm39) |
F28L |
probably damaging |
Het |
| Vmn2r27 |
T |
C |
6: 124,177,649 (GRCm39) |
R452G |
probably damaging |
Het |
| Vmn2r3 |
T |
A |
3: 64,182,538 (GRCm39) |
D387V |
probably damaging |
Het |
| Vps13b |
T |
C |
15: 35,875,712 (GRCm39) |
I2699T |
probably damaging |
Het |
| Zfp944 |
G |
T |
17: 22,558,697 (GRCm39) |
Y183* |
probably null |
Het |
|
| Other mutations in Stxbp5 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH 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 |
|
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'- TCTGACCCGAATGTAACCAAGGAGAG -3'
(R):5'- GCATGAAGGATGTGAACAATGCTTAGC -3'
Sequencing Primer
(F):5'- TGAATCTACCAGGCTGTGC -3'
(R):5'- GCTGTATTGTCCACAAATCAGG -3'
|
| Posted On |
2014-04-13 |
Incidental Mutation