Incidental Mutation 'IGL03022:Stxbp3'
| ID |
408020 |
| 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 # |
IGL03022
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
3 |
| Chromosomal Location |
108700496-108747818 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 108708072 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Phenylalanine
at position 410
(L410F)
|
| 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 damaging
Transcript: ENSMUST00000102621
AA Change: L410F
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000099681
Gene: ENSMUSG00000027882
AA Change: L410F
| 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: 32 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acvr2b |
G |
T |
9: 119,256,587 (GRCm39) |
R40L |
probably benign |
Het |
| Asph |
T |
C |
4: 9,517,668 (GRCm39) |
N402D |
possibly damaging |
Het |
| Brip1 |
T |
C |
11: 85,968,776 (GRCm39) |
Y803C |
probably damaging |
Het |
| Cenpc1 |
T |
C |
5: 86,170,234 (GRCm39) |
|
probably benign |
Het |
| Dynlt5 |
A |
G |
4: 102,859,714 (GRCm39) |
T85A |
probably benign |
Het |
| Fam110b |
A |
G |
4: 5,799,448 (GRCm39) |
M289V |
probably benign |
Het |
| Fam193b |
T |
C |
13: 55,691,475 (GRCm39) |
N429S |
probably damaging |
Het |
| Folh1 |
T |
C |
7: 86,395,379 (GRCm39) |
Y351C |
possibly damaging |
Het |
| Fryl |
G |
A |
5: 73,216,726 (GRCm39) |
A2188V |
possibly damaging |
Het |
| Gtf2f1 |
C |
T |
17: 57,317,971 (GRCm39) |
|
probably null |
Het |
| Gucy1a1 |
T |
C |
3: 82,016,404 (GRCm39) |
K195E |
probably benign |
Het |
| H2-Oa |
T |
C |
17: 34,313,023 (GRCm39) |
V100A |
probably damaging |
Het |
| Kcnu1 |
A |
T |
8: 26,427,614 (GRCm39) |
K310N |
probably damaging |
Het |
| Mtss1 |
A |
G |
15: 58,825,439 (GRCm39) |
S254P |
probably damaging |
Het |
| N4bp2l2 |
A |
G |
5: 150,566,761 (GRCm39) |
S516P |
probably benign |
Het |
| Nrcam |
A |
G |
12: 44,645,225 (GRCm39) |
D1139G |
probably damaging |
Het |
| Nxpe4 |
T |
C |
9: 48,304,548 (GRCm39) |
S212P |
probably damaging |
Het |
| Or1ab2 |
A |
C |
8: 72,863,968 (GRCm39) |
K186T |
probably damaging |
Het |
| Or5d47 |
C |
T |
2: 87,804,341 (GRCm39) |
V223I |
probably benign |
Het |
| Or5p52 |
A |
T |
7: 107,502,188 (GRCm39) |
H88L |
probably benign |
Het |
| Parp2 |
T |
C |
14: 51,058,553 (GRCm39) |
Y528H |
probably damaging |
Het |
| Pdgfd |
T |
C |
9: 6,288,495 (GRCm39) |
Y50H |
probably damaging |
Het |
| Prkaca |
A |
G |
8: 84,721,976 (GRCm39) |
D329G |
possibly damaging |
Het |
| Rbbp8 |
A |
G |
18: 11,858,559 (GRCm39) |
|
probably benign |
Het |
| Sele |
A |
G |
1: 163,882,248 (GRCm39) |
T578A |
probably benign |
Het |
| Shroom2 |
A |
G |
X: 151,443,089 (GRCm39) |
V692A |
probably benign |
Het |
| Tcaf1 |
C |
A |
6: 42,655,060 (GRCm39) |
G553* |
probably null |
Het |
| Ttn |
G |
A |
2: 76,576,862 (GRCm39) |
T24677M |
probably damaging |
Het |
| Vmn2r24 |
T |
A |
6: 123,755,967 (GRCm39) |
L13H |
probably damaging |
Het |
| Zfp106 |
C |
A |
2: 120,359,120 (GRCm39) |
|
probably benign |
Het |
| Zfp616 |
A |
G |
11: 73,973,800 (GRCm39) |
D23G |
possibly damaging |
Het |
| Zfp84 |
T |
C |
7: 29,474,759 (GRCm39) |
|
probably benign |
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 |
|
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 |
2016-08-02 |
Incidental Mutation