Incidental Mutation 'R3887:Stxbp3'
| ID |
309683 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Stxbp3
|
| Ensembl Gene |
ENSMUSG00000027882 |
| Gene Name |
syntaxin binding protein 3 |
| Synonyms |
Stxbp3, Stxbp3a, Munc-18c |
| MMRRC Submission |
040799-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R3887 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
3 |
| Chromosomal Location |
108700496-108747818 bp(-) (GRCm39) |
| Type of Mutation |
splice site (5 bp from exon) |
| DNA Base Change (assembly) |
C to T
at 108712549 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000099681
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000102621]
|
| AlphaFold |
Q60770 |
| PDB Structure |
Re-refinement of the crystal structure of Munc18-3 and Syntaxin4 N-peptide complex [X-RAY DIFFRACTION]
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000102621
|
| SMART Domains |
Protein: ENSMUSP00000099681
Gene: ENSMUSG00000027882
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Sec1
|
33 |
576 |
5.9e-107 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000124782
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000150010
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000196679
|
| Meta Mutation Damage Score |
0.9755 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.4%
- 20x: 95.4%
|
| Validation Efficiency |
100% (40/40) |
| MGI Phenotype |
PHENOTYPE: Homozygous null mice display embryonic or perinatal lethality with reduced embryonic growth and malformation of the intermediate zone of the cerebral cortex. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4933407L21Rik |
T |
A |
1: 85,868,273 (GRCm39) |
|
probably null |
Het |
| Ankdd1a |
C |
A |
9: 65,409,530 (GRCm39) |
G469W |
probably damaging |
Het |
| Ano6 |
A |
C |
15: 95,792,330 (GRCm39) |
T65P |
possibly damaging |
Het |
| Arhgap26 |
G |
A |
18: 39,363,019 (GRCm39) |
|
probably null |
Het |
| Ccdc175 |
A |
G |
12: 72,182,822 (GRCm39) |
I399T |
possibly damaging |
Het |
| Ceacam14 |
T |
A |
7: 17,548,063 (GRCm39) |
V51D |
probably damaging |
Het |
| Cerk |
A |
T |
15: 86,033,532 (GRCm39) |
I297N |
possibly damaging |
Het |
| Cps1 |
C |
A |
1: 67,204,659 (GRCm39) |
T493K |
possibly damaging |
Het |
| Dmxl1 |
T |
A |
18: 50,011,326 (GRCm39) |
M1161K |
probably damaging |
Het |
| Efcab14 |
T |
A |
4: 115,595,857 (GRCm39) |
M1K |
probably null |
Het |
| Etl4 |
C |
T |
2: 20,534,772 (GRCm39) |
Q76* |
probably null |
Het |
| Fmc1 |
T |
C |
6: 38,516,223 (GRCm39) |
S90P |
probably benign |
Het |
| Fn1 |
T |
C |
1: 71,679,465 (GRCm39) |
Y511C |
probably damaging |
Het |
| Foxd2 |
T |
C |
4: 114,765,483 (GRCm39) |
H179R |
unknown |
Het |
| Hk2 |
C |
T |
6: 82,711,942 (GRCm39) |
D548N |
possibly damaging |
Het |
| Lct |
T |
C |
1: 128,231,963 (GRCm39) |
M629V |
probably damaging |
Het |
| Lrp5 |
G |
A |
19: 3,662,330 (GRCm39) |
R173C |
probably damaging |
Het |
| Mapk12 |
A |
T |
15: 89,019,840 (GRCm39) |
H122Q |
possibly damaging |
Het |
| Mdfic |
C |
T |
6: 15,799,710 (GRCm39) |
T279I |
probably damaging |
Het |
| Mycbp2 |
A |
G |
14: 103,412,233 (GRCm39) |
V2580A |
probably damaging |
Het |
| Mylk3 |
A |
G |
8: 86,078,676 (GRCm39) |
I476T |
probably damaging |
Het |
| Ncapg |
G |
A |
5: 45,831,705 (GRCm39) |
V184I |
probably benign |
Het |
| Or4a71 |
T |
A |
2: 89,358,076 (GRCm39) |
H226L |
possibly damaging |
Het |
| Pla2g15 |
A |
G |
8: 106,887,767 (GRCm39) |
Y185C |
probably damaging |
Het |
| Ptpro |
T |
A |
6: 137,420,592 (GRCm39) |
V1007D |
probably damaging |
Het |
| Rbm45 |
A |
G |
2: 76,205,768 (GRCm39) |
S207G |
probably benign |
Het |
| Reln |
T |
C |
5: 22,115,847 (GRCm39) |
I3054V |
possibly damaging |
Het |
| Rreb1 |
G |
T |
13: 38,077,941 (GRCm39) |
R51L |
probably damaging |
Het |
| Scube2 |
A |
T |
7: 109,442,383 (GRCm39) |
|
probably benign |
Het |
| Slc15a2 |
A |
G |
16: 36,602,666 (GRCm39) |
F65S |
probably damaging |
Het |
| Slc17a8 |
G |
T |
10: 89,427,000 (GRCm39) |
|
probably benign |
Het |
| Snapc4 |
G |
A |
2: 26,255,510 (GRCm39) |
Q1005* |
probably null |
Het |
| Stag3 |
A |
G |
5: 138,297,101 (GRCm39) |
I550M |
probably damaging |
Het |
| Steap4 |
G |
T |
5: 8,030,494 (GRCm39) |
R450L |
probably damaging |
Het |
| Strn4 |
T |
C |
7: 16,556,923 (GRCm39) |
|
probably benign |
Het |
| Syngr1 |
A |
G |
15: 80,000,240 (GRCm39) |
D117G |
probably damaging |
Het |
| Tbc1d10b |
A |
T |
7: 126,798,967 (GRCm39) |
I513N |
possibly damaging |
Het |
|
| Other mutations in Stxbp3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00805:Stxbp3
|
APN |
3 |
108,723,667 (GRCm39) |
missense |
probably benign |
0.05 |
|
IGL01370:Stxbp3
|
APN |
3 |
108,704,741 (GRCm39) |
nonsense |
probably null |
|
|
IGL01810:Stxbp3
|
APN |
3 |
108,707,468 (GRCm39) |
missense |
probably benign |
0.35 |
|
IGL02583:Stxbp3
|
APN |
3 |
108,708,187 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02827:Stxbp3
|
APN |
3 |
108,717,211 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03022:Stxbp3
|
APN |
3 |
108,708,072 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03198:Stxbp3
|
APN |
3 |
108,734,405 (GRCm39) |
missense |
probably damaging |
0.96 |
|
IGL03410:Stxbp3
|
APN |
3 |
108,709,476 (GRCm39) |
missense |
probably damaging |
1.00 |
|
G1patch:Stxbp3
|
UTSW |
3 |
108,734,916 (GRCm39) |
missense |
possibly damaging |
0.47 |
|
R0666:Stxbp3
|
UTSW |
3 |
108,712,618 (GRCm39) |
missense |
possibly damaging |
0.49 |
|
R4128:Stxbp3
|
UTSW |
3 |
108,702,147 (GRCm39) |
missense |
probably benign |
0.03 |
|
R4683:Stxbp3
|
UTSW |
3 |
108,708,188 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5106:Stxbp3
|
UTSW |
3 |
108,702,243 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5307:Stxbp3
|
UTSW |
3 |
108,701,114 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6643:Stxbp3
|
UTSW |
3 |
108,701,150 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6722:Stxbp3
|
UTSW |
3 |
108,723,762 (GRCm39) |
missense |
probably benign |
0.03 |
|
R6725:Stxbp3
|
UTSW |
3 |
108,734,916 (GRCm39) |
missense |
possibly damaging |
0.47 |
|
R7110:Stxbp3
|
UTSW |
3 |
108,723,649 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7135:Stxbp3
|
UTSW |
3 |
108,708,071 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7231:Stxbp3
|
UTSW |
3 |
108,708,125 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7769:Stxbp3
|
UTSW |
3 |
108,708,144 (GRCm39) |
missense |
probably benign |
|
|
R8688:Stxbp3
|
UTSW |
3 |
108,709,425 (GRCm39) |
critical splice donor site |
probably benign |
|
|
R9048:Stxbp3
|
UTSW |
3 |
108,723,704 (GRCm39) |
missense |
probably benign |
0.33 |
|
R9503:Stxbp3
|
UTSW |
3 |
108,710,911 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9523:Stxbp3
|
UTSW |
3 |
108,747,756 (GRCm39) |
missense |
probably damaging |
1.00 |
|
X0020:Stxbp3
|
UTSW |
3 |
108,701,163 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- CCTTGCATCGCCTTGAAAGAC -3'
(R):5'- CCTTAGGTAGCAGGCTGAATCTG -3'
Sequencing Primer
(F):5'- GCATCGCCTTGAAAGACTCTTAC -3'
(R):5'- AGCAGGCTGAATCTGTACTC -3'
|
| Posted On |
2015-04-17 |
Incidental Mutation