Incidental Mutation 'IGL01810:Stxbp3'
| ID |
155812 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Stxbp3
|
| Ensembl Gene |
ENSMUSG00000027882 |
| Gene Name |
syntaxin binding protein 3 |
| Synonyms |
Stxbp3, Stxbp3a, Munc-18c |
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
IGL01810
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
3 |
| Chromosomal Location |
108700496-108747818 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 108707468 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 420
(E420G)
|
| 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 benign
Transcript: ENSMUST00000102621
AA Change: E420G
PolyPhen 2
Score 0.351 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000099681
Gene: ENSMUSG00000027882
AA Change: E420G
| 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: ENSMUST00000124903
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000150010
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| 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: 42 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aarsd1 |
G |
T |
11: 101,308,185 (GRCm39) |
Y10* |
probably null |
Het |
| Aass |
C |
A |
6: 23,107,633 (GRCm39) |
Q383H |
probably damaging |
Het |
| Bag1 |
T |
C |
4: 40,936,657 (GRCm39) |
D333G |
probably damaging |
Het |
| Cap2 |
A |
G |
13: 46,793,425 (GRCm39) |
|
probably benign |
Het |
| Col27a1 |
G |
T |
4: 63,143,868 (GRCm39) |
A519S |
probably benign |
Het |
| Cr2 |
A |
G |
1: 194,841,903 (GRCm39) |
V726A |
possibly damaging |
Het |
| Csmd2 |
A |
G |
4: 128,374,638 (GRCm39) |
|
probably benign |
Het |
| Dennd4c |
A |
G |
4: 86,717,788 (GRCm39) |
D595G |
possibly damaging |
Het |
| Ercc2 |
G |
T |
7: 19,127,374 (GRCm39) |
R340L |
probably damaging |
Het |
| Espl1 |
A |
G |
15: 102,206,640 (GRCm39) |
T35A |
probably benign |
Het |
| Fndc3a |
A |
G |
14: 72,803,581 (GRCm39) |
Y525H |
probably benign |
Het |
| Gm4922 |
T |
C |
10: 18,659,795 (GRCm39) |
Q309R |
probably benign |
Het |
| Gm5263 |
T |
C |
1: 146,296,292 (GRCm39) |
|
noncoding transcript |
Het |
| Gm6563 |
A |
C |
19: 23,653,751 (GRCm39) |
R180S |
probably damaging |
Het |
| Gpr182 |
C |
A |
10: 127,586,733 (GRCm39) |
V73F |
probably damaging |
Het |
| Gramd1b |
C |
T |
9: 40,227,069 (GRCm39) |
R179H |
probably damaging |
Het |
| Hk1 |
C |
T |
10: 62,188,884 (GRCm39) |
A10T |
probably benign |
Het |
| Hmgn3 |
C |
A |
9: 82,992,437 (GRCm39) |
|
probably benign |
Het |
| Il1b |
C |
T |
2: 129,211,649 (GRCm39) |
E24K |
probably damaging |
Het |
| Itgb6 |
G |
T |
2: 60,458,329 (GRCm39) |
Q475K |
probably benign |
Het |
| Lrrc74b |
A |
G |
16: 17,363,422 (GRCm39) |
S368P |
probably benign |
Het |
| Mfsd2b |
T |
C |
12: 4,916,469 (GRCm39) |
T234A |
possibly damaging |
Het |
| Muc6 |
A |
T |
7: 141,237,327 (GRCm39) |
Y270N |
probably damaging |
Het |
| Naip6 |
A |
G |
13: 100,424,603 (GRCm39) |
|
probably benign |
Het |
| Or4b13 |
A |
T |
2: 90,082,476 (GRCm39) |
Y285* |
probably null |
Het |
| Pear1 |
G |
A |
3: 87,659,608 (GRCm39) |
T742I |
probably damaging |
Het |
| Peli2 |
G |
A |
14: 48,493,491 (GRCm39) |
V238I |
probably benign |
Het |
| Pira2 |
A |
G |
7: 3,847,611 (GRCm39) |
L26P |
probably damaging |
Het |
| Pot1b |
A |
G |
17: 55,969,521 (GRCm39) |
V549A |
possibly damaging |
Het |
| Prdm16 |
T |
C |
4: 154,432,384 (GRCm39) |
Y295C |
probably benign |
Het |
| Ptprd |
A |
T |
4: 76,058,744 (GRCm39) |
|
probably benign |
Het |
| Rap1gap |
A |
T |
4: 137,443,466 (GRCm39) |
M145L |
probably benign |
Het |
| Setd7 |
A |
T |
3: 51,440,388 (GRCm39) |
|
probably benign |
Het |
| Ssx2ip |
T |
C |
3: 146,133,765 (GRCm39) |
I258T |
probably benign |
Het |
| Stard9 |
T |
C |
2: 120,529,565 (GRCm39) |
Y1941H |
possibly damaging |
Het |
| Tpra1 |
T |
C |
6: 88,886,324 (GRCm39) |
V101A |
probably damaging |
Het |
| Tpx2 |
G |
T |
2: 152,726,155 (GRCm39) |
Q373H |
probably damaging |
Het |
| Ttn |
C |
T |
2: 76,557,352 (GRCm39) |
R29914Q |
probably damaging |
Het |
| Ubr3 |
T |
C |
2: 69,833,809 (GRCm39) |
|
probably null |
Het |
| Usp18 |
G |
A |
6: 121,230,730 (GRCm39) |
G53D |
probably damaging |
Het |
| Vps13c |
A |
T |
9: 67,863,062 (GRCm39) |
H3026L |
probably benign |
Het |
| Zan |
T |
C |
5: 137,461,888 (GRCm39) |
E1097G |
unknown |
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 |
|
|
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 |
|
R3887:Stxbp3
|
UTSW |
3 |
108,712,549 (GRCm39) |
splice site |
probably null |
|
|
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 |
|
| Posted On |
2014-02-04 |
Incidental Mutation