Incidental Mutation 'IGL00836:Stx17'
| ID |
14289 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Stx17
|
| Ensembl Gene |
ENSMUSG00000061455 |
| Gene Name |
syntaxin 17 |
| Synonyms |
9030425C21Rik, 4833418L03Rik, 6330411F21Rik |
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
IGL00836
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
4 |
| Chromosomal Location |
48124915-48186507 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 48158955 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 90
(S90P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000103349
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000064765]
[ENSMUST00000107720]
[ENSMUST00000107721]
[ENSMUST00000153502]
|
| AlphaFold |
Q9D0I4 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000064765
AA Change: S112P
PolyPhen 2
Score 0.187 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000068087
Gene: ENSMUSG00000061455
AA Change: S112P
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
74 |
88 |
N/A |
INTRINSIC |
|
t_SNARE
|
156 |
223 |
9.65e-13 |
SMART |
|
transmembrane domain
|
228 |
250 |
N/A |
INTRINSIC |
|
transmembrane domain
|
255 |
274 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000107720
AA Change: S112P
PolyPhen 2
Score 0.187 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000103348
Gene: ENSMUSG00000061455
AA Change: S112P
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
74 |
88 |
N/A |
INTRINSIC |
|
t_SNARE
|
156 |
223 |
9.65e-13 |
SMART |
|
transmembrane domain
|
228 |
250 |
N/A |
INTRINSIC |
|
transmembrane domain
|
255 |
274 |
N/A |
INTRINSIC |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000107721
AA Change: S90P
PolyPhen 2
Score 0.723 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000103349
Gene: ENSMUSG00000061455
AA Change: S90P
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
52 |
66 |
N/A |
INTRINSIC |
|
t_SNARE
|
134 |
201 |
9.65e-13 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000153502
AA Change: S112P
PolyPhen 2
Score 0.090 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000117512
Gene: ENSMUSG00000061455
AA Change: S112P
| Domain | Start | End | E-Value | Type |
|---|
|
coiled coil region
|
51 |
74 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 22 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ccdc18 |
G |
A |
5: 108,328,391 (GRCm39) |
S697N |
probably benign |
Het |
| Cyp2c29 |
A |
G |
19: 39,313,434 (GRCm39) |
D310G |
probably damaging |
Het |
| Cyp4f13 |
G |
A |
17: 33,160,138 (GRCm39) |
H79Y |
probably benign |
Het |
| Dtna |
T |
C |
18: 23,730,545 (GRCm39) |
S311P |
probably benign |
Het |
| Dynlrb2 |
A |
G |
8: 117,241,572 (GRCm39) |
T39A |
probably benign |
Het |
| Erc2 |
T |
C |
14: 27,762,478 (GRCm39) |
I747T |
probably damaging |
Het |
| Herc6 |
G |
A |
6: 57,596,534 (GRCm39) |
M491I |
probably damaging |
Het |
| Klra3 |
A |
T |
6: 130,304,107 (GRCm39) |
I195N |
probably benign |
Het |
| Lama3 |
A |
G |
18: 12,605,285 (GRCm39) |
I1080V |
probably benign |
Het |
| Pls1 |
A |
G |
9: 95,643,475 (GRCm39) |
V508A |
possibly damaging |
Het |
| Prdm10 |
C |
A |
9: 31,241,165 (GRCm39) |
|
probably benign |
Het |
| Rnase1 |
T |
A |
14: 51,383,003 (GRCm39) |
Y117F |
probably benign |
Het |
| S100pbp |
A |
T |
4: 129,075,901 (GRCm39) |
N141K |
possibly damaging |
Het |
| Sin3a |
T |
A |
9: 57,014,629 (GRCm39) |
|
probably null |
Het |
| Slc2a2 |
G |
A |
3: 28,772,890 (GRCm39) |
A228T |
possibly damaging |
Het |
| Smurf2 |
A |
G |
11: 106,743,462 (GRCm39) |
Y182H |
probably benign |
Het |
| Snx2 |
T |
A |
18: 53,349,472 (GRCm39) |
M411K |
possibly damaging |
Het |
| Stxbp5l |
A |
T |
16: 37,028,462 (GRCm39) |
S534T |
possibly damaging |
Het |
| Tacc2 |
A |
G |
7: 130,360,898 (GRCm39) |
D2730G |
probably damaging |
Het |
| Timm8b |
A |
G |
9: 50,516,294 (GRCm39) |
D49G |
possibly damaging |
Het |
| Ufd1 |
G |
T |
16: 18,646,468 (GRCm39) |
|
probably benign |
Het |
| Zfp974 |
T |
C |
7: 27,610,315 (GRCm39) |
E470G |
possibly damaging |
Het |
|
| Other mutations in Stx17 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01625:Stx17
|
APN |
4 |
48,181,526 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01975:Stx17
|
APN |
4 |
48,180,670 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1977:Stx17
|
UTSW |
4 |
48,181,553 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2069:Stx17
|
UTSW |
4 |
48,158,870 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4117:Stx17
|
UTSW |
4 |
48,180,689 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4201:Stx17
|
UTSW |
4 |
48,158,870 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4202:Stx17
|
UTSW |
4 |
48,158,870 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5265:Stx17
|
UTSW |
4 |
48,183,470 (GRCm39) |
utr 3 prime |
probably benign |
|
|
R5308:Stx17
|
UTSW |
4 |
48,182,851 (GRCm39) |
utr 3 prime |
probably benign |
|
|
R6414:Stx17
|
UTSW |
4 |
48,158,809 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R6499:Stx17
|
UTSW |
4 |
48,183,478 (GRCm39) |
critical splice donor site |
probably null |
|
|
R6969:Stx17
|
UTSW |
4 |
48,140,462 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7062:Stx17
|
UTSW |
4 |
48,140,442 (GRCm39) |
missense |
probably benign |
0.07 |
|
R7482:Stx17
|
UTSW |
4 |
48,181,722 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R8472:Stx17
|
UTSW |
4 |
48,166,972 (GRCm39) |
missense |
probably benign |
0.42 |
|
R8865:Stx17
|
UTSW |
4 |
48,183,444 (GRCm39) |
missense |
unknown |
|
|
R9130:Stx17
|
UTSW |
4 |
48,159,071 (GRCm39) |
unclassified |
probably benign |
|
|
R9563:Stx17
|
UTSW |
4 |
48,180,739 (GRCm39) |
missense |
probably damaging |
0.98 |
|
| Posted On |
2012-12-06 |
Incidental Mutation