Incidental Mutation 'R4201:Stx17'
ID |
318748 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Stx17
|
Ensembl Gene |
ENSMUSG00000061455 |
Gene Name |
syntaxin 17 |
Synonyms |
9030425C21Rik, 4833418L03Rik, 6330411F21Rik |
MMRRC Submission |
041031-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R4201 (G1)
|
Quality Score |
225 |
Status
|
Not 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: 99.3%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 96.0%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 37 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4921524L21Rik |
A |
G |
18: 6,623,952 (GRCm39) |
|
probably null |
Het |
Als2 |
A |
T |
1: 59,219,313 (GRCm39) |
D1212E |
possibly damaging |
Het |
Arfgef3 |
A |
G |
10: 18,495,530 (GRCm39) |
S1167P |
probably benign |
Het |
Arl6ip1 |
AAAATAAATAAATAAATAAATAAATA |
AAAATAAATAAATAAATAAATAAATAAATA |
7: 117,721,122 (GRCm39) |
|
probably benign |
Het |
Atp1b2 |
A |
G |
11: 69,494,295 (GRCm39) |
V66A |
possibly damaging |
Het |
Bag3 |
C |
A |
7: 128,147,881 (GRCm39) |
L499I |
probably damaging |
Het |
Boc |
T |
C |
16: 44,310,981 (GRCm39) |
D751G |
probably damaging |
Het |
Camk1d |
T |
C |
2: 5,359,587 (GRCm39) |
Y145C |
probably benign |
Het |
Ccdc172 |
G |
A |
19: 58,525,017 (GRCm39) |
R158H |
probably benign |
Het |
Cd101 |
A |
C |
3: 100,926,001 (GRCm39) |
D239E |
probably damaging |
Het |
Cd9 |
T |
C |
6: 125,439,357 (GRCm39) |
D125G |
possibly damaging |
Het |
Cep295 |
T |
C |
9: 15,243,834 (GRCm39) |
I1493V |
probably benign |
Het |
Chrna5 |
A |
G |
9: 54,905,359 (GRCm39) |
D57G |
probably benign |
Het |
Cul7 |
C |
T |
17: 46,972,238 (GRCm39) |
R1201W |
probably damaging |
Het |
Dnah1 |
A |
G |
14: 30,984,227 (GRCm39) |
V3976A |
probably benign |
Het |
Dnah11 |
T |
C |
12: 117,930,394 (GRCm39) |
D3317G |
possibly damaging |
Het |
Dnmt3b |
G |
T |
2: 153,512,337 (GRCm39) |
E353* |
probably null |
Het |
Gch1 |
T |
C |
14: 47,393,260 (GRCm39) |
S241G |
probably benign |
Het |
Gpr22 |
A |
T |
12: 31,758,912 (GRCm39) |
Y366* |
probably null |
Het |
Gse1 |
A |
T |
8: 121,294,503 (GRCm39) |
M277L |
probably benign |
Het |
Kcnt2 |
G |
A |
1: 140,353,070 (GRCm39) |
V260I |
probably damaging |
Het |
Nbas |
G |
T |
12: 13,424,827 (GRCm39) |
C1022F |
probably benign |
Het |
Nfix |
CAAAAA |
CAAAA |
8: 85,442,876 (GRCm39) |
|
probably null |
Het |
Or6c206 |
T |
C |
10: 129,097,646 (GRCm39) |
V272A |
probably benign |
Het |
Or6c214 |
A |
T |
10: 129,590,497 (GRCm39) |
L274H |
probably damaging |
Het |
Parp4 |
C |
A |
14: 56,829,848 (GRCm39) |
T274K |
possibly damaging |
Het |
Pgs1 |
A |
G |
11: 117,893,362 (GRCm39) |
S230G |
probably damaging |
Het |
Plin4 |
T |
G |
17: 56,411,338 (GRCm39) |
T898P |
probably damaging |
Het |
Ptprj |
A |
C |
2: 90,293,439 (GRCm39) |
V548G |
probably damaging |
Het |
Sec23a |
T |
C |
12: 59,048,791 (GRCm39) |
I139M |
probably benign |
Het |
Shroom3 |
G |
T |
5: 93,090,945 (GRCm39) |
V1151F |
probably damaging |
Het |
Syne1 |
A |
T |
10: 5,297,870 (GRCm39) |
D1142E |
probably benign |
Het |
Tbccd1 |
A |
G |
16: 22,644,698 (GRCm39) |
V226A |
probably damaging |
Het |
Tex11 |
C |
A |
X: 99,977,021 (GRCm39) |
A487S |
possibly damaging |
Het |
Tmed7 |
A |
G |
18: 46,726,314 (GRCm39) |
|
probably null |
Het |
Tnfrsf23 |
A |
T |
7: 143,223,791 (GRCm39) |
C137S |
probably damaging |
Het |
Vmn2r87 |
T |
C |
10: 130,308,448 (GRCm39) |
I597V |
probably benign |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- GGGCATGGATTCTAGTCTAGCC -3'
(R):5'- CATATGTTACCATCAACAGTTGTGG -3'
Sequencing Primer
(F):5'- TGTCCCTGTAGAAGACAATTGG -3'
(R):5'- ACCATCAACAGTTGTGGATCTGG -3'
|
Posted On |
2015-06-10 |