Incidental Mutation 'R5247:Stx18'
| ID |
401182 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Stx18
|
| Ensembl Gene |
ENSMUSG00000029125 |
| Gene Name |
syntaxin 18 |
| Synonyms |
1810035L21Rik, 4933425D03Rik |
| MMRRC Submission |
042818-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R5247 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
5 |
| Chromosomal Location |
38196086-38295109 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 38263977 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Phenylalanine
at position 141
(Y141F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000109761
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000031008]
[ENSMUST00000042146]
[ENSMUST00000114126]
[ENSMUST00000146864]
[ENSMUST00000154929]
[ENSMUST00000202412]
|
| AlphaFold |
Q8VDS8 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000031008
AA Change: Y141F
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000031008
Gene: ENSMUSG00000029125
AA Change: Y141F
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Syntaxin-18_N
|
3 |
96 |
4.1e-26 |
PFAM |
|
low complexity region
|
196 |
209 |
N/A |
INTRINSIC |
|
coiled coil region
|
229 |
259 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000042146
|
| SMART Domains |
Protein: ENSMUSP00000038205
Gene: ENSMUSG00000029125
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Syntaxin-18_N
|
3 |
96 |
4.1e-26 |
PFAM |
|
low complexity region
|
170 |
183 |
N/A |
INTRINSIC |
|
coiled coil region
|
203 |
233 |
N/A |
INTRINSIC |
|
transmembrane domain
|
284 |
306 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000114126
AA Change: Y141F
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000109761
Gene: ENSMUSG00000029125
AA Change: Y141F
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Syntaxin-18_N
|
3 |
96 |
3.4e-24 |
PFAM |
|
low complexity region
|
196 |
209 |
N/A |
INTRINSIC |
|
coiled coil region
|
229 |
259 |
N/A |
INTRINSIC |
|
transmembrane domain
|
310 |
332 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000146864
AA Change: Y60F
PolyPhen 2
Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000143909
Gene: ENSMUSG00000029125
AA Change: Y60F
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
115 |
128 |
N/A |
INTRINSIC |
|
coiled coil region
|
148 |
178 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000154929
AA Change: Y87F
PolyPhen 2
Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000118218
Gene: ENSMUSG00000029125
AA Change: Y87F
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
142 |
155 |
N/A |
INTRINSIC |
|
coiled coil region
|
175 |
205 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000201285
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000202412
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.9%
- 20x: 94.4%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the syntaxin family of soluble N-ethylmaleimide-sensitive factor attachment protein receptors (SNAREs) which is part of a membrane tethering complex that includes other SNAREs and several peripheral membrane proteins, and is involved in vesicular transport between the endoplasmic reticulum (ER) and the Golgi complex. The encoded protein is important for the organization of the smooth, rough, and exit site ER subdomains. A pseudogene of this gene has been identified. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2016]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 42 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ankar |
A |
T |
1: 72,719,343 (GRCm39) |
V502E |
probably benign |
Het |
| Atad2 |
A |
T |
15: 57,967,874 (GRCm39) |
L585* |
probably null |
Het |
| Atp6v0a2 |
T |
C |
5: 124,790,241 (GRCm39) |
S475P |
probably damaging |
Het |
| Cacng1 |
T |
C |
11: 107,607,105 (GRCm39) |
H38R |
probably benign |
Het |
| Ccdc168 |
A |
C |
1: 44,096,166 (GRCm39) |
L1644* |
probably null |
Het |
| Celsr2 |
A |
G |
3: 108,304,946 (GRCm39) |
V2168A |
probably benign |
Het |
| Cnot4 |
C |
T |
6: 35,028,351 (GRCm39) |
V422I |
probably damaging |
Het |
| Col1a1 |
T |
C |
11: 94,838,013 (GRCm39) |
|
probably null |
Het |
| Cspg4b |
A |
T |
13: 113,455,993 (GRCm39) |
I680F |
probably damaging |
Het |
| Ctcfl |
A |
T |
2: 172,955,402 (GRCm39) |
C287S |
probably damaging |
Het |
| Eps8l1 |
T |
A |
7: 4,473,401 (GRCm39) |
D133E |
probably damaging |
Het |
| Fam161b |
A |
G |
12: 84,404,524 (GRCm39) |
L52P |
probably damaging |
Het |
| Fam98c |
T |
C |
7: 28,855,126 (GRCm39) |
E99G |
possibly damaging |
Het |
| Fmn2 |
A |
T |
1: 174,648,794 (GRCm39) |
I1574L |
probably benign |
Het |
| Gabrb3 |
T |
A |
7: 57,240,339 (GRCm39) |
L8Q |
possibly damaging |
Het |
| Hck |
A |
T |
2: 152,976,615 (GRCm39) |
K250* |
probably null |
Het |
| Herc1 |
A |
G |
9: 66,341,833 (GRCm39) |
E1874G |
probably benign |
Het |
| Igf2 |
G |
T |
7: 142,207,668 (GRCm39) |
A143D |
possibly damaging |
Het |
| Isg20l2 |
A |
G |
3: 87,838,920 (GRCm39) |
N44D |
possibly damaging |
Het |
| Kdm7a |
T |
A |
6: 39,121,390 (GRCm39) |
Q855L |
probably benign |
Het |
| Kif15 |
T |
C |
9: 122,815,507 (GRCm39) |
S434P |
possibly damaging |
Het |
| Klrc3 |
A |
T |
6: 129,618,425 (GRCm39) |
N119K |
probably damaging |
Het |
| L3mbtl3 |
T |
C |
10: 26,203,706 (GRCm39) |
M375V |
unknown |
Het |
| Lpcat4 |
A |
G |
2: 112,072,860 (GRCm39) |
H173R |
possibly damaging |
Het |
| Mapk13 |
A |
T |
17: 28,996,725 (GRCm39) |
Q264L |
probably benign |
Het |
| Mrps18c |
C |
G |
5: 100,946,659 (GRCm39) |
C8W |
probably damaging |
Het |
| Myt1l |
G |
A |
12: 29,882,331 (GRCm39) |
G509R |
unknown |
Het |
| Nlrp4b |
T |
A |
7: 10,448,145 (GRCm39) |
I116N |
probably benign |
Het |
| Or10h1 |
A |
G |
17: 33,418,504 (GRCm39) |
T161A |
probably benign |
Het |
| Or5b124 |
T |
A |
19: 13,610,778 (GRCm39) |
F101Y |
probably damaging |
Het |
| Prdm1 |
A |
T |
10: 44,316,098 (GRCm39) |
H679Q |
probably damaging |
Het |
| Prickle2 |
T |
A |
6: 92,352,950 (GRCm39) |
S839C |
probably damaging |
Het |
| Rps19 |
T |
A |
7: 24,584,878 (GRCm39) |
S36T |
probably damaging |
Het |
| Serpinb1a |
T |
A |
13: 33,034,389 (GRCm39) |
M1L |
probably damaging |
Het |
| Slc16a7 |
A |
T |
10: 125,067,183 (GRCm39) |
M152K |
probably damaging |
Het |
| Srpk3 |
C |
T |
X: 72,818,555 (GRCm39) |
R82* |
probably null |
Het |
| Tgfb2 |
A |
T |
1: 186,382,111 (GRCm39) |
|
probably null |
Het |
| Tle7 |
T |
C |
8: 110,837,209 (GRCm39) |
F299S |
probably damaging |
Het |
| Tmem151b |
A |
T |
17: 45,856,571 (GRCm39) |
Y290N |
probably damaging |
Het |
| Ttn |
G |
A |
2: 76,558,766 (GRCm39) |
T29705M |
probably damaging |
Het |
| Tymp |
GC |
GCC |
15: 89,258,567 (GRCm39) |
|
probably null |
Het |
| Usp19 |
T |
G |
9: 108,373,264 (GRCm39) |
|
probably null |
Het |
|
| Other mutations in Stx18 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01782:Stx18
|
APN |
5 |
38,263,955 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
IGL02123:Stx18
|
APN |
5 |
38,285,447 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03107:Stx18
|
APN |
5 |
38,293,655 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03187:Stx18
|
APN |
5 |
38,284,327 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R0025:Stx18
|
UTSW |
5 |
38,249,908 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0025:Stx18
|
UTSW |
5 |
38,249,908 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0414:Stx18
|
UTSW |
5 |
38,262,349 (GRCm39) |
splice site |
probably benign |
|
|
R0713:Stx18
|
UTSW |
5 |
38,264,015 (GRCm39) |
splice site |
probably null |
|
|
R1147:Stx18
|
UTSW |
5 |
38,284,267 (GRCm39) |
splice site |
probably benign |
|
|
R1552:Stx18
|
UTSW |
5 |
38,262,335 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1725:Stx18
|
UTSW |
5 |
38,292,599 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1929:Stx18
|
UTSW |
5 |
38,285,383 (GRCm39) |
splice site |
probably null |
|
|
R2020:Stx18
|
UTSW |
5 |
38,292,588 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4678:Stx18
|
UTSW |
5 |
38,293,712 (GRCm39) |
unclassified |
probably benign |
|
|
R6056:Stx18
|
UTSW |
5 |
38,263,908 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R6330:Stx18
|
UTSW |
5 |
38,284,261 (GRCm39) |
splice site |
probably null |
|
|
R6860:Stx18
|
UTSW |
5 |
38,262,235 (GRCm39) |
missense |
possibly damaging |
0.62 |
|
R7060:Stx18
|
UTSW |
5 |
38,278,599 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R7285:Stx18
|
UTSW |
5 |
38,262,251 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R7351:Stx18
|
UTSW |
5 |
38,196,755 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8310:Stx18
|
UTSW |
5 |
38,285,383 (GRCm39) |
splice site |
probably null |
|
|
R8329:Stx18
|
UTSW |
5 |
38,285,450 (GRCm39) |
nonsense |
probably null |
|
|
R9585:Stx18
|
UTSW |
5 |
38,249,916 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R9784:Stx18
|
UTSW |
5 |
38,196,635 (GRCm39) |
start gained |
probably benign |
|
|
X0026:Stx18
|
UTSW |
5 |
38,262,310 (GRCm39) |
nonsense |
probably null |
|
|
| Predicted Primers |
PCR Primer
(F):5'- TCTCACTTGACATGAGGCTG -3'
(R):5'- CTTACACACTCCTGTCGAAGCAG -3'
Sequencing Primer
(F):5'- CACTTGACATGAGGCTGTTTTATAGC -3'
(R):5'- ATGGCTTCGTAGGCAAAG -3'
|
| Posted On |
2016-07-06 |
Incidental Mutation