Incidental Mutation 'IGL03133:Stx7'
| ID |
410415 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Stx7
|
| Ensembl Gene |
ENSMUSG00000019998 |
| Gene Name |
syntaxin 7 |
| Synonyms |
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL03133
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
10 |
| Chromosomal Location |
24025182-24064859 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 24060936 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Isoleucine
at position 221
(N221I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000151638
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000020174]
[ENSMUST00000220041]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000020174
AA Change: N221I
PolyPhen 2
Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000020174
Gene: ENSMUSG00000019998
AA Change: N221I
| Domain | Start | End | E-Value | Type |
|---|
|
SynN
|
3 |
116 |
2.66e-31 |
SMART |
|
t_SNARE
|
160 |
227 |
2.39e-17 |
SMART |
|
transmembrane domain
|
237 |
259 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000220041
AA Change: N221I
PolyPhen 2
Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a syntaxin family membrane receptor involved in vesicle transport. The encoded protein binds alpha-SNAP, an important regulator of transport vesicle fusion. Along with syntaxin 13, this protein plays a role in the ordered fusion of endosomes and lysosomes with the phagosome. [provided by RefSeq, May 2016]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 27 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adarb1 |
T |
C |
10: 77,161,730 (GRCm39) |
|
probably benign |
Het |
| Ano5 |
C |
T |
7: 51,226,260 (GRCm39) |
R505* |
probably null |
Het |
| Asphd1 |
A |
G |
7: 126,547,452 (GRCm39) |
C284R |
possibly damaging |
Het |
| Cep192 |
T |
A |
18: 67,943,176 (GRCm39) |
W158R |
probably benign |
Het |
| Ces2h |
T |
A |
8: 105,743,411 (GRCm39) |
D188E |
probably damaging |
Het |
| Dab1 |
G |
A |
4: 104,584,777 (GRCm39) |
V306I |
probably benign |
Het |
| Dcc |
A |
G |
18: 71,396,026 (GRCm39) |
|
probably benign |
Het |
| Dennd6b |
T |
A |
15: 89,072,726 (GRCm39) |
|
probably null |
Het |
| Dmwd |
T |
A |
7: 18,810,562 (GRCm39) |
V123D |
probably damaging |
Het |
| Eno1 |
A |
G |
4: 150,329,801 (GRCm39) |
|
probably benign |
Het |
| Fat2 |
G |
A |
11: 55,176,869 (GRCm39) |
T1542I |
probably benign |
Het |
| Fcrl1 |
T |
C |
3: 87,296,699 (GRCm39) |
S274P |
probably benign |
Het |
| Gmpr |
T |
C |
13: 45,670,494 (GRCm39) |
V72A |
probably benign |
Het |
| Kank2 |
T |
C |
9: 21,706,937 (GRCm39) |
E27G |
probably null |
Het |
| Mtor |
G |
T |
4: 148,568,776 (GRCm39) |
A1099S |
probably benign |
Het |
| Ofcc1 |
T |
C |
13: 40,226,244 (GRCm39) |
I763V |
probably benign |
Het |
| Or5m10 |
G |
T |
2: 85,717,478 (GRCm39) |
E111D |
probably damaging |
Het |
| Or5p63 |
G |
T |
7: 107,811,594 (GRCm39) |
S47R |
possibly damaging |
Het |
| Or8b12i |
T |
A |
9: 20,082,009 (GRCm39) |
N286I |
probably damaging |
Het |
| Or8k27 |
A |
G |
2: 86,276,002 (GRCm39) |
I108T |
probably damaging |
Het |
| Piwil1 |
C |
A |
5: 128,819,093 (GRCm39) |
H201N |
probably benign |
Het |
| Slc26a7 |
C |
T |
4: 14,532,576 (GRCm39) |
V433M |
possibly damaging |
Het |
| Spata31d1c |
T |
C |
13: 65,182,799 (GRCm39) |
Y114H |
probably benign |
Het |
| Tbc1d31 |
A |
T |
15: 57,805,855 (GRCm39) |
|
probably benign |
Het |
| Ubxn7 |
T |
G |
16: 32,200,599 (GRCm39) |
L393R |
probably damaging |
Het |
| Vit |
A |
T |
17: 78,873,500 (GRCm39) |
M59L |
probably benign |
Het |
| Vmn1r5 |
T |
A |
6: 56,962,600 (GRCm39) |
C92S |
probably benign |
Het |
|
| Other mutations in Stx7 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02959:Stx7
|
APN |
10 |
24,031,247 (GRCm39) |
missense |
probably benign |
0.05 |
|
madison
|
UTSW |
10 |
24,058,659 (GRCm39) |
splice site |
probably null |
|
|
stones
|
UTSW |
10 |
24,060,883 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
switch
|
UTSW |
10 |
24,058,724 (GRCm39) |
nonsense |
probably null |
|
|
teufel
|
UTSW |
10 |
24,057,454 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R0201:Stx7
|
UTSW |
10 |
24,060,977 (GRCm39) |
splice site |
probably benign |
|
|
R0413:Stx7
|
UTSW |
10 |
24,057,492 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1624:Stx7
|
UTSW |
10 |
24,060,903 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3980:Stx7
|
UTSW |
10 |
24,060,947 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5874:Stx7
|
UTSW |
10 |
24,058,659 (GRCm39) |
splice site |
probably null |
|
|
R6114:Stx7
|
UTSW |
10 |
24,060,883 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R6493:Stx7
|
UTSW |
10 |
24,060,969 (GRCm39) |
critical splice donor site |
probably null |
|
|
R8320:Stx7
|
UTSW |
10 |
24,055,046 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R8560:Stx7
|
UTSW |
10 |
24,057,454 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R9098:Stx7
|
UTSW |
10 |
24,058,724 (GRCm39) |
nonsense |
probably null |
|
|
R9792:Stx7
|
UTSW |
10 |
24,057,475 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9795:Stx7
|
UTSW |
10 |
24,057,475 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2016-08-02 |
Incidental Mutation