Incidental Mutation 'R0574:Stx8'
| ID |
46580 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Stx8
|
| Ensembl Gene |
ENSMUSG00000020903 |
| Gene Name |
syntaxin 8 |
| Synonyms |
1110002H11Rik, 4930571E13Rik, 0610007H08Rik |
| MMRRC Submission |
038764-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R0574 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
67857237-68097974 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 67864078 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Methionine
at position 46
(T46M)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000104315
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000021285]
[ENSMUST00000021286]
[ENSMUST00000108675]
|
| AlphaFold |
O88983 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000021285
AA Change: T46M
PolyPhen 2
Score 0.190 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000021285
Gene: ENSMUSG00000020903
AA Change: T46M
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
47 |
63 |
N/A |
INTRINSIC |
|
t_SNARE
|
140 |
207 |
2.77e-13 |
SMART |
|
transmembrane domain
|
211 |
233 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000021286
AA Change: T46M
PolyPhen 2
Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000021286
Gene: ENSMUSG00000020903
AA Change: T46M
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
47 |
63 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000108675
AA Change: T46M
PolyPhen 2
Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000104315
Gene: ENSMUSG00000020903
AA Change: T46M
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
47 |
63 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000129992
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000142649
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000148642
|
| Meta Mutation Damage Score |
0.6467 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.3%
- 10x: 96.2%
- 20x: 92.4%
|
| Validation Efficiency |
100% (34/34) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The gene is a member of the syntaxin family. The encoded protein is involved in protein trafficking from early to late endosomes via vesicle fusion and exocytosis. A related pseudogene has been identified on chromosome 12. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2010]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit defects in platelet dense granule secretion, aggregation, and thrombus stability. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 32 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2700099C18Rik |
T |
C |
17: 95,068,919 (GRCm39) |
|
noncoding transcript |
Het |
| Abca14 |
A |
G |
7: 119,823,720 (GRCm39) |
I416V |
probably damaging |
Het |
| Actrt3 |
T |
C |
3: 30,653,829 (GRCm39) |
E57G |
probably benign |
Het |
| Adamts5 |
A |
G |
16: 85,696,372 (GRCm39) |
S262P |
probably damaging |
Het |
| Aldh1a2 |
T |
C |
9: 71,188,990 (GRCm39) |
|
probably null |
Het |
| Arhgap29 |
A |
G |
3: 121,801,274 (GRCm39) |
I670V |
probably benign |
Het |
| Bptf |
T |
C |
11: 106,967,353 (GRCm39) |
D1009G |
probably damaging |
Het |
| Ddr2 |
G |
T |
1: 169,809,532 (GRCm39) |
|
probably benign |
Het |
| Ift140 |
T |
A |
17: 25,270,734 (GRCm39) |
|
probably null |
Het |
| Itga1 |
A |
C |
13: 115,103,097 (GRCm39) |
S1111R |
probably damaging |
Het |
| Klk1b27 |
T |
A |
7: 43,705,525 (GRCm39) |
L199Q |
probably damaging |
Het |
| Lhx3 |
T |
C |
2: 26,091,323 (GRCm39) |
S329G |
probably benign |
Het |
| Man2b1 |
T |
G |
8: 85,823,405 (GRCm39) |
M913R |
probably benign |
Het |
| Mmp15 |
G |
A |
8: 96,092,029 (GRCm39) |
A80T |
possibly damaging |
Het |
| Mpo |
A |
T |
11: 87,686,902 (GRCm39) |
Y177F |
probably damaging |
Het |
| Mynn |
T |
C |
3: 30,670,888 (GRCm39) |
S587P |
probably benign |
Het |
| Nfkbib |
C |
T |
7: 28,461,213 (GRCm39) |
V145I |
probably benign |
Het |
| Or1o3 |
G |
T |
17: 37,573,772 (GRCm39) |
S261Y |
probably damaging |
Het |
| Or4k15 |
A |
T |
14: 50,364,139 (GRCm39) |
Y35F |
probably damaging |
Het |
| Or6k8-ps1 |
T |
C |
1: 173,979,132 (GRCm39) |
F17L |
probably benign |
Het |
| Pole2 |
G |
A |
12: 69,258,231 (GRCm39) |
|
probably benign |
Het |
| Ppargc1b |
C |
T |
18: 61,435,810 (GRCm39) |
G906D |
probably benign |
Het |
| Prl8a2 |
T |
A |
13: 27,532,883 (GRCm39) |
C32S |
probably damaging |
Het |
| Rhno1 |
A |
T |
6: 128,335,113 (GRCm39) |
|
probably null |
Het |
| Rprd2 |
T |
C |
3: 95,681,669 (GRCm39) |
E408G |
possibly damaging |
Het |
| Ryr2 |
T |
A |
13: 11,746,555 (GRCm39) |
H1999L |
probably benign |
Het |
| Shprh |
T |
C |
10: 11,038,821 (GRCm39) |
|
probably benign |
Het |
| Snx3 |
T |
A |
10: 42,378,383 (GRCm39) |
N19K |
probably benign |
Het |
| Tbc1d17 |
A |
G |
7: 44,492,547 (GRCm39) |
|
probably benign |
Het |
| Ush1c |
A |
G |
7: 45,846,228 (GRCm39) |
S855P |
possibly damaging |
Het |
| Usp54 |
A |
G |
14: 20,606,322 (GRCm39) |
V1338A |
probably benign |
Het |
| Vmn1r214 |
A |
G |
13: 23,218,663 (GRCm39) |
I52M |
probably benign |
Het |
|
| Other mutations in Stx8 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02679:Stx8
|
APN |
11 |
67,860,598 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02860:Stx8
|
APN |
11 |
67,875,391 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03084:Stx8
|
APN |
11 |
67,911,782 (GRCm39) |
nonsense |
probably null |
|
|
R0599:Stx8
|
UTSW |
11 |
68,000,188 (GRCm39) |
missense |
probably null |
0.26 |
|
R1696:Stx8
|
UTSW |
11 |
67,902,248 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1816:Stx8
|
UTSW |
11 |
67,902,152 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R1928:Stx8
|
UTSW |
11 |
68,000,106 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R2352:Stx8
|
UTSW |
11 |
67,864,077 (GRCm39) |
missense |
probably benign |
0.02 |
|
R4822:Stx8
|
UTSW |
11 |
67,864,099 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R5485:Stx8
|
UTSW |
11 |
67,911,792 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7673:Stx8
|
UTSW |
11 |
67,875,465 (GRCm39) |
missense |
probably benign |
0.29 |
|
R7722:Stx8
|
UTSW |
11 |
68,094,544 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7832:Stx8
|
UTSW |
11 |
68,000,106 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7852:Stx8
|
UTSW |
11 |
67,860,611 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8343:Stx8
|
UTSW |
11 |
67,911,814 (GRCm39) |
missense |
probably benign |
0.14 |
|
R9048:Stx8
|
UTSW |
11 |
67,902,211 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9171:Stx8
|
UTSW |
11 |
67,875,471 (GRCm39) |
missense |
possibly damaging |
0.59 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGGACCAGGTTGCCATGAACAG -3'
(R):5'- GCAACAGTGTGGAAACCAAGTCCTC -3'
Sequencing Primer
(F):5'- TGCACTATGGGTACAAGCTC -3'
(R):5'- CCTCCTTGAGCTGTGGAAAAATC -3'
|
| Posted On |
2013-06-11 |
Incidental Mutation