Incidental Mutation 'R9503:Stxbp3'
ID |
717697 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Stxbp3
|
Ensembl Gene |
ENSMUSG00000027882 |
Gene Name |
syntaxin binding protein 3 |
Synonyms |
Stxbp3, Stxbp3a, Munc-18c |
MMRRC Submission |
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R9503 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
3 |
Chromosomal Location |
108700496-108747818 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 108710911 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Leucine to Proline
at position 327
(L327P)
|
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: L327P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000099681 Gene: ENSMUSG00000027882 AA Change: L327P
Domain | Start | End | E-Value | Type |
Pfam:Sec1
|
33 |
576 |
5.9e-107 |
PFAM |
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.6%
|
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: 23 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Ahnak |
T |
A |
19: 8,987,458 (GRCm39) |
V2914E |
probably damaging |
Het |
Bcan |
G |
A |
3: 87,900,748 (GRCm39) |
P495L |
probably benign |
Het |
Bnip3l |
G |
A |
14: 67,246,214 (GRCm39) |
P7L |
possibly damaging |
Het |
Cc2d2b |
C |
T |
19: 40,804,275 (GRCm39) |
T934M |
unknown |
Het |
Ciao1 |
T |
C |
2: 127,084,916 (GRCm39) |
D274G |
probably damaging |
Het |
Cpne9 |
G |
T |
6: 113,271,732 (GRCm39) |
R364L |
possibly damaging |
Het |
D6Ertd527e |
G |
C |
6: 87,088,839 (GRCm39) |
S334T |
unknown |
Het |
Fbn2 |
T |
C |
18: 58,171,313 (GRCm39) |
Y2150C |
probably damaging |
Het |
Hdac4 |
A |
T |
1: 91,929,956 (GRCm39) |
F177I |
probably damaging |
Het |
Lama2 |
A |
G |
10: 26,865,440 (GRCm39) |
V2906A |
possibly damaging |
Het |
Mpp2 |
T |
C |
11: 101,955,468 (GRCm39) |
D94G |
probably benign |
Het |
Nudt14 |
A |
G |
12: 112,898,566 (GRCm39) |
L178P |
probably damaging |
Het |
Or14a258 |
C |
T |
7: 86,035,228 (GRCm39) |
M213I |
probably benign |
Het |
Pcnt |
A |
G |
10: 76,263,882 (GRCm39) |
W361R |
possibly damaging |
Het |
Pcnx4 |
G |
T |
12: 72,588,561 (GRCm39) |
S123I |
probably damaging |
Het |
Pnp |
A |
G |
14: 51,188,423 (GRCm39) |
N199S |
probably benign |
Het |
Prr12 |
G |
T |
7: 44,693,020 (GRCm39) |
P1504Q |
unknown |
Het |
Pus7l |
T |
A |
15: 94,438,666 (GRCm39) |
I60L |
probably benign |
Het |
Strn3 |
A |
T |
12: 51,656,894 (GRCm39) |
F795I |
possibly damaging |
Het |
Themis2 |
A |
G |
4: 132,510,657 (GRCm39) |
|
probably null |
Het |
Ube2j1 |
C |
T |
4: 33,049,781 (GRCm39) |
Q260* |
probably null |
Het |
Unc93b1 |
A |
G |
19: 3,986,373 (GRCm39) |
I136V |
possibly damaging |
Het |
Usp9y |
T |
A |
Y: 1,316,045 (GRCm39) |
Q2030L |
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 |
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 |
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'- AAACGTCAGTGGCTGCTTCG -3'
(R):5'- AGAAGGTTCTGTTTTGTCCAAC -3'
Sequencing Primer
(F):5'- GGTCACTCTGGGCATTTCTCAG -3'
(R):5'- GAACTCAATGGCAGCTGCTTTAC -3'
|
Posted On |
2022-07-18 |