Incidental Mutation 'IGL02860:Stx8'
| ID |
362125 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Stx8
|
| Ensembl Gene |
ENSMUSG00000020903 |
| Gene Name |
syntaxin 8 |
| Synonyms |
1110002H11Rik, 4930571E13Rik, 0610007H08Rik |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL02860
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
11 |
| Chromosomal Location |
67857237-68097974 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 67875391 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Lysine
at position 72
(T72K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000021285
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000021285]
[ENSMUST00000021286]
|
| AlphaFold |
O88983 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000021285
AA Change: T72K
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000021285
Gene: ENSMUSG00000020903
AA Change: T72K
| 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: T72K
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000021286
Gene: ENSMUSG00000020903
AA Change: T72K
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
47 |
63 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000129992
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| 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: 26 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamts7 |
A |
T |
9: 90,073,915 (GRCm39) |
M832L |
probably benign |
Het |
| Cars1 |
A |
T |
7: 143,140,158 (GRCm39) |
D99E |
probably damaging |
Het |
| Ccdc112 |
A |
G |
18: 46,420,509 (GRCm39) |
F414L |
probably benign |
Het |
| Chst15 |
C |
T |
7: 131,870,831 (GRCm39) |
V235I |
probably benign |
Het |
| Dysf |
G |
T |
6: 84,167,880 (GRCm39) |
|
probably null |
Het |
| Elavl2 |
T |
C |
4: 91,149,190 (GRCm39) |
D174G |
probably damaging |
Het |
| Gapdhs |
T |
A |
7: 30,429,308 (GRCm39) |
|
probably null |
Het |
| Gnb1l |
G |
A |
16: 18,371,285 (GRCm39) |
G259R |
probably damaging |
Het |
| Ighv9-2 |
T |
G |
12: 114,072,857 (GRCm39) |
I39L |
possibly damaging |
Het |
| Kntc1 |
T |
A |
5: 123,907,936 (GRCm39) |
N474K |
possibly damaging |
Het |
| Lrrc8c |
T |
C |
5: 105,727,481 (GRCm39) |
|
probably benign |
Het |
| Lyn |
C |
T |
4: 3,745,594 (GRCm39) |
A131V |
possibly damaging |
Het |
| Mindy2 |
T |
C |
9: 70,563,826 (GRCm39) |
E168G |
probably damaging |
Het |
| Morc2a |
T |
C |
11: 3,611,821 (GRCm39) |
|
probably benign |
Het |
| Naip6 |
T |
C |
13: 100,436,984 (GRCm39) |
Q513R |
possibly damaging |
Het |
| Nell1 |
A |
T |
7: 50,498,233 (GRCm39) |
I597F |
probably damaging |
Het |
| Nudt12 |
T |
A |
17: 59,317,430 (GRCm39) |
R72S |
probably benign |
Het |
| Pan2 |
C |
T |
10: 128,146,604 (GRCm39) |
R414* |
probably null |
Het |
| Rb1 |
T |
C |
14: 73,443,452 (GRCm39) |
R768G |
probably damaging |
Het |
| Rps6ka2 |
A |
G |
17: 7,550,255 (GRCm39) |
E440G |
possibly damaging |
Het |
| Serpinb3a |
C |
T |
1: 106,977,183 (GRCm39) |
|
probably benign |
Het |
| Tecrl |
A |
G |
5: 83,502,844 (GRCm39) |
F2L |
probably benign |
Het |
| Tmem263 |
C |
T |
10: 84,950,416 (GRCm39) |
T69I |
probably damaging |
Het |
| Ttc39b |
T |
C |
4: 83,181,983 (GRCm39) |
N49D |
probably benign |
Het |
| Ttn |
A |
G |
2: 76,547,359 (GRCm39) |
L32229P |
probably damaging |
Het |
| Zfp358 |
T |
C |
8: 3,546,074 (GRCm39) |
F219L |
probably damaging |
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 |
|
IGL03084:Stx8
|
APN |
11 |
67,911,782 (GRCm39) |
nonsense |
probably null |
|
|
R0574:Stx8
|
UTSW |
11 |
67,864,078 (GRCm39) |
missense |
probably damaging |
0.99 |
|
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 |
|
| Posted On |
2015-12-18 |
Incidental Mutation