Incidental Mutation 'R4202:Stx17'
| ID |
318786 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Stx17
|
| Ensembl Gene |
ENSMUSG00000061455 |
| Gene Name |
syntaxin 17 |
| Synonyms |
9030425C21Rik, 4833418L03Rik, 6330411F21Rik |
| MMRRC Submission |
041032-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R4202 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
4 |
| Chromosomal Location |
48124915-48186507 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 48158870 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 83
(D83E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000117512
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000064765]
[ENSMUST00000107720]
[ENSMUST00000107721]
[ENSMUST00000153502]
|
| AlphaFold |
Q9D0I4 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000064765
AA Change: D83E
PolyPhen 2
Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000068087
Gene: ENSMUSG00000061455
AA Change: D83E
| 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 damaging
Transcript: ENSMUST00000107720
AA Change: D83E
PolyPhen 2
Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000103348
Gene: ENSMUSG00000061455
AA Change: D83E
| 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 damaging
Transcript: ENSMUST00000107721
AA Change: D61E
PolyPhen 2
Score 0.959 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000103349
Gene: ENSMUSG00000061455
AA Change: D61E
| 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 damaging
Transcript: ENSMUST00000153502
AA Change: D83E
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000117512
Gene: ENSMUSG00000061455
AA Change: D83E
| Domain | Start | End | E-Value | Type |
|---|
|
coiled coil region
|
51 |
74 |
N/A |
INTRINSIC |
|
| Meta Mutation Damage Score |
0.6467 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.5%
|
| Validation Efficiency |
92% (33/36) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 30 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adsl |
C |
T |
15: 80,836,417 (GRCm39) |
T58I |
probably damaging |
Het |
| Ano7 |
A |
G |
1: 93,308,200 (GRCm39) |
D77G |
probably benign |
Het |
| Ap2b1 |
T |
A |
11: 83,226,430 (GRCm39) |
|
probably null |
Het |
| Bclaf3 |
T |
A |
X: 158,336,829 (GRCm39) |
S419T |
probably damaging |
Het |
| Bysl |
A |
G |
17: 47,915,251 (GRCm39) |
S166P |
probably benign |
Het |
| Cd101 |
A |
C |
3: 100,926,001 (GRCm39) |
D239E |
probably damaging |
Het |
| Cdc42bpb |
G |
A |
12: 111,260,573 (GRCm39) |
P1702S |
probably benign |
Het |
| Cfap65 |
G |
T |
1: 74,959,701 (GRCm39) |
F816L |
probably damaging |
Het |
| Cnot6 |
T |
C |
11: 49,593,463 (GRCm39) |
Y6C |
probably damaging |
Het |
| Csrp1 |
T |
G |
1: 135,673,065 (GRCm39) |
C61G |
probably damaging |
Het |
| Gmeb2 |
A |
G |
2: 180,895,766 (GRCm39) |
V468A |
possibly damaging |
Het |
| Gucy2g |
A |
G |
19: 55,218,201 (GRCm39) |
S416P |
possibly damaging |
Het |
| Hormad1 |
G |
A |
3: 95,492,509 (GRCm39) |
R362H |
probably benign |
Het |
| Lancl2 |
T |
A |
6: 57,689,977 (GRCm39) |
V61D |
probably benign |
Het |
| Lta4h |
A |
G |
10: 93,306,669 (GRCm39) |
D287G |
probably damaging |
Het |
| Maml1 |
A |
T |
11: 50,148,740 (GRCm39) |
L1000Q |
probably damaging |
Het |
| Or6c206 |
T |
C |
10: 129,097,646 (GRCm39) |
V272A |
probably benign |
Het |
| Or7a42 |
T |
C |
10: 78,791,129 (GRCm39) |
V30A |
probably benign |
Het |
| Osbpl9 |
G |
T |
4: 109,029,437 (GRCm39) |
|
probably benign |
Het |
| Oser1 |
T |
C |
2: 163,253,375 (GRCm39) |
T45A |
probably benign |
Het |
| Pip4p1 |
A |
G |
14: 51,168,112 (GRCm39) |
S41P |
probably damaging |
Het |
| Ppfibp1 |
C |
A |
6: 146,931,079 (GRCm39) |
S878R |
probably damaging |
Het |
| Prss43 |
T |
A |
9: 110,656,529 (GRCm39) |
V72D |
probably benign |
Het |
| Sdhb |
T |
A |
4: 140,706,379 (GRCm39) |
M272K |
possibly damaging |
Het |
| Shroom3 |
G |
T |
5: 93,090,945 (GRCm39) |
V1151F |
probably damaging |
Het |
| Tas2r138 |
T |
C |
6: 40,589,410 (GRCm39) |
M279V |
possibly damaging |
Het |
| Tsku |
C |
T |
7: 98,002,205 (GRCm39) |
R42H |
probably damaging |
Het |
| Tyr |
A |
G |
7: 87,078,276 (GRCm39) |
L528P |
possibly damaging |
Het |
| Vmn2r87 |
T |
C |
10: 130,308,448 (GRCm39) |
I597V |
probably benign |
Het |
| Wnt5b |
T |
C |
6: 119,417,272 (GRCm39) |
N198D |
probably damaging |
Het |
|
| Other mutations in Stx17 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00836:Stx17
|
APN |
4 |
48,158,955 (GRCm39) |
missense |
possibly damaging |
0.72 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGTCCCTGTAGAAGACAATTGG -3'
(R):5'- AGGATTTACAAGGGCCTCTCTC -3'
Sequencing Primer
(F):5'- GTCCCTGTAGAAGACAATTGGTAATC -3'
(R):5'- CTCTAACTGTGCCAAGTAGGATC -3'
|
| Posted On |
2015-06-10 |
Incidental Mutation