Incidental Mutation 'R2852:Stx5a'
| ID |
252355 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Stx5a
|
| Ensembl Gene |
ENSMUSG00000010110 |
| Gene Name |
syntaxin 5A |
| Synonyms |
syntaxin 5, 0610031F24Rik, D19Ertd627e |
| MMRRC Submission |
040445-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R2852 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
19 |
| Chromosomal Location |
8718788-8733006 bp(+) (GRCm39) |
| Type of Mutation |
unclassified |
| DNA Base Change (assembly) |
T to C
at 8732476 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000139124
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000010241]
[ENSMUST00000010254]
[ENSMUST00000073430]
[ENSMUST00000175872]
[ENSMUST00000176013]
[ENSMUST00000176381]
[ENSMUST00000176968]
[ENSMUST00000177373]
[ENSMUST00000184970]
[ENSMUST00000177322]
[ENSMUST00000184756]
[ENSMUST00000183939]
|
| AlphaFold |
Q8K1E0 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000010241
|
| SMART Domains |
Protein: ENSMUSP00000010241
Gene: ENSMUSG00000010097
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
33 |
50 |
N/A |
INTRINSIC |
|
low complexity region
|
67 |
81 |
N/A |
INTRINSIC |
|
Pfam:Tap-RNA_bind
|
115 |
198 |
7.6e-42 |
PFAM |
|
low complexity region
|
258 |
274 |
N/A |
INTRINSIC |
|
LRRcap
|
333 |
351 |
1.44e0 |
SMART |
|
Pfam:NTF2
|
385 |
535 |
1.3e-29 |
PFAM |
|
TAP_C
|
555 |
618 |
1.85e-33 |
SMART |
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000010254
AA Change: S382P
|
| SMART Domains |
Protein: ENSMUSP00000010254
Gene: ENSMUSG00000010110
AA Change: S382P
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
26 |
44 |
N/A |
INTRINSIC |
|
Pfam:Syntaxin-5_N
|
52 |
74 |
1.5e-15 |
PFAM |
|
SCOP:d1fioa_
|
92 |
298 |
7e-36 |
SMART |
|
Blast:t_SNARE
|
258 |
304 |
9e-22 |
BLAST |
|
low complexity region
|
346 |
376 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000073430
|
| SMART Domains |
Protein: ENSMUSP00000073136
Gene: ENSMUSG00000010110
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
26 |
44 |
N/A |
INTRINSIC |
|
Pfam:Syntaxin
|
90 |
194 |
1e-15 |
PFAM |
|
t_SNARE
|
258 |
325 |
4.33e-15 |
SMART |
|
transmembrane domain
|
334 |
353 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000175872
|
| SMART Domains |
Protein: ENSMUSP00000135416
Gene: ENSMUSG00000010110
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
26 |
44 |
N/A |
INTRINSIC |
|
Pfam:Syntaxin
|
90 |
194 |
2.7e-16 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000176013
|
| SMART Domains |
Protein: ENSMUSP00000135465
Gene: ENSMUSG00000010110
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
26 |
44 |
N/A |
INTRINSIC |
|
Pfam:Syntaxin
|
90 |
143 |
3e-8 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000176182
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000176381
|
| SMART Domains |
Protein: ENSMUSP00000134854
Gene: ENSMUSG00000010110
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
26 |
44 |
N/A |
INTRINSIC |
|
Pfam:Syntaxin
|
90 |
194 |
1e-15 |
PFAM |
|
t_SNARE
|
258 |
325 |
4.33e-15 |
SMART |
|
transmembrane domain
|
334 |
353 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000176404
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000183780
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000176968
|
| SMART Domains |
Protein: ENSMUSP00000135468
Gene: ENSMUSG00000010110
| Domain | Start | End | E-Value | Type |
|---|
|
t_SNARE
|
12 |
79 |
4.33e-15 |
SMART |
|
transmembrane domain
|
88 |
107 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000177373
|
| SMART Domains |
Protein: ENSMUSP00000134794
Gene: ENSMUSG00000010110
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Syntaxin
|
1 |
98 |
5.2e-15 |
PFAM |
|
t_SNARE
|
162 |
229 |
4.33e-15 |
SMART |
|
transmembrane domain
|
238 |
257 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000184970
|
| SMART Domains |
Protein: ENSMUSP00000139124
Gene: ENSMUSG00000010097
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
33 |
50 |
N/A |
INTRINSIC |
|
low complexity region
|
67 |
81 |
N/A |
INTRINSIC |
|
Pfam:Tap-RNA_bind
|
112 |
199 |
2.4e-45 |
PFAM |
|
low complexity region
|
258 |
274 |
N/A |
INTRINSIC |
|
Pfam:LRR_1
|
291 |
314 |
3.2e-2 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000177322
|
| SMART Domains |
Protein: ENSMUSP00000135624
Gene: ENSMUSG00000010110
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
26 |
44 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000184756
|
| SMART Domains |
Protein: ENSMUSP00000139050
Gene: ENSMUSG00000010097
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
33 |
50 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000183939
|
| SMART Domains |
Protein: ENSMUSP00000139351
Gene: ENSMUSG00000010097
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Tap-RNA_bind
|
1 |
63 |
5.7e-28 |
PFAM |
|
low complexity region
|
122 |
138 |
N/A |
INTRINSIC |
|
Pfam:LRR_1
|
155 |
178 |
2.1e-2 |
PFAM |
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.7%
|
| Validation Efficiency |
100% (46/46) |
| 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 or t-SNARE (target-SNAP receptor) family. These proteins are found on cell membranes and serve as the targets for v-SNAREs (vesicle-SNAP receptors), permitting specific synaptic vesicle docking and fusion. The encoded protein regulates endoplasmic reticulum to Golgi transport and plays a critical role in autophagy. Autoantibodies targeting the encoded protein may be a diagnostic marker for endometriosis. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Sep 2011]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 45 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Arhgef4 |
A |
C |
1: 34,763,129 (GRCm39) |
D795A |
unknown |
Het |
| Bank1 |
A |
T |
3: 135,948,701 (GRCm39) |
S159T |
possibly damaging |
Het |
| Catsperd |
A |
G |
17: 56,967,169 (GRCm39) |
|
probably null |
Het |
| Cblc |
A |
G |
7: 19,514,889 (GRCm39) |
|
probably null |
Het |
| Cfap54 |
T |
C |
10: 92,776,017 (GRCm39) |
Y48C |
probably damaging |
Het |
| Chrng |
A |
G |
1: 87,134,428 (GRCm39) |
I156M |
probably benign |
Het |
| Dennd5a |
A |
T |
7: 109,532,878 (GRCm39) |
N297K |
probably damaging |
Het |
| Depdc5 |
A |
G |
5: 33,081,515 (GRCm39) |
E559G |
probably damaging |
Het |
| Dnai4 |
A |
G |
4: 102,953,858 (GRCm39) |
S114P |
probably benign |
Het |
| Dzip1 |
A |
C |
14: 119,159,857 (GRCm39) |
M117R |
possibly damaging |
Het |
| Ednrb |
G |
T |
14: 104,059,110 (GRCm39) |
S305R |
probably benign |
Het |
| Egflam |
A |
T |
15: 7,249,182 (GRCm39) |
W879R |
probably damaging |
Het |
| Ehbp1l1 |
T |
A |
19: 5,766,515 (GRCm39) |
D332V |
probably damaging |
Het |
| Far1 |
T |
C |
7: 113,152,944 (GRCm39) |
Y351H |
possibly damaging |
Het |
| Glrp1 |
GTGCTGCTGCTGCTGCTGCTGCTGCTG |
GTGCTGCTGCTGCTGCTGCTGCTGCTGCTG |
1: 88,430,997 (GRCm39) |
|
probably benign |
Het |
| Hspd1 |
A |
T |
1: 55,120,256 (GRCm39) |
D315E |
probably damaging |
Het |
| Kap |
T |
C |
6: 133,827,057 (GRCm39) |
K92E |
probably benign |
Het |
| Kcnv2 |
T |
C |
19: 27,300,496 (GRCm39) |
Y116H |
probably benign |
Het |
| Krt82 |
T |
C |
15: 101,456,870 (GRCm39) |
Y170C |
probably damaging |
Het |
| Krtap13 |
T |
C |
16: 88,548,524 (GRCm39) |
|
probably benign |
Het |
| Man2a1 |
A |
G |
17: 65,020,596 (GRCm39) |
K791E |
probably benign |
Het |
| Map4k4 |
T |
A |
1: 40,039,915 (GRCm39) |
|
probably benign |
Het |
| Mdc1 |
T |
A |
17: 36,159,902 (GRCm39) |
V670D |
probably benign |
Het |
| Mre11a |
A |
G |
9: 14,737,843 (GRCm39) |
E599G |
probably benign |
Het |
| Mrln |
T |
C |
10: 70,055,456 (GRCm39) |
I44T |
possibly damaging |
Het |
| Mslnl |
G |
A |
17: 25,961,908 (GRCm39) |
V128M |
probably damaging |
Het |
| Mycbp2 |
A |
T |
14: 103,381,769 (GRCm39) |
F3724I |
probably damaging |
Het |
| Npsr1 |
A |
G |
9: 24,221,301 (GRCm39) |
|
probably benign |
Het |
| Oosp3 |
T |
A |
19: 11,676,896 (GRCm39) |
|
probably null |
Het |
| Pah |
T |
A |
10: 87,403,327 (GRCm39) |
L131Q |
probably damaging |
Het |
| Pde6h |
G |
A |
6: 136,940,206 (GRCm39) |
C64Y |
probably damaging |
Het |
| Pdzd7 |
C |
G |
19: 45,016,113 (GRCm39) |
V1003L |
probably benign |
Het |
| Pilra |
T |
A |
5: 137,834,342 (GRCm39) |
M14L |
probably benign |
Het |
| Prkdc |
T |
C |
16: 15,470,416 (GRCm39) |
|
probably null |
Het |
| Rnf168 |
A |
G |
16: 32,101,192 (GRCm39) |
E124G |
probably damaging |
Het |
| Robo4 |
CGG |
CG |
9: 37,322,786 (GRCm39) |
|
probably null |
Het |
| Spata1 |
A |
G |
3: 146,193,295 (GRCm39) |
L96P |
possibly damaging |
Het |
| Stk11ip |
A |
G |
1: 75,505,911 (GRCm39) |
|
probably benign |
Het |
| Tek |
A |
G |
4: 94,708,461 (GRCm39) |
T340A |
probably benign |
Het |
| Tmeff1 |
T |
A |
4: 48,604,692 (GRCm39) |
|
probably null |
Het |
| Vmn2r85 |
T |
A |
10: 130,255,035 (GRCm39) |
M550L |
probably benign |
Het |
| Zfp14 |
A |
G |
7: 29,738,596 (GRCm39) |
Y130H |
probably benign |
Het |
| Zfp653 |
A |
T |
9: 21,968,862 (GRCm39) |
D426E |
probably benign |
Het |
| Zfyve28 |
G |
A |
5: 34,354,006 (GRCm39) |
P834L |
probably damaging |
Het |
| Zkscan16 |
A |
G |
4: 58,957,364 (GRCm39) |
T549A |
possibly damaging |
Het |
|
| Other mutations in Stx5a |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL03152:Stx5a
|
APN |
19 |
8,727,138 (GRCm39) |
critical splice donor site |
probably null |
|
|
R0541:Stx5a
|
UTSW |
19 |
8,727,301 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0726:Stx5a
|
UTSW |
19 |
8,732,275 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1566:Stx5a
|
UTSW |
19 |
8,719,675 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1990:Stx5a
|
UTSW |
19 |
8,726,254 (GRCm39) |
critical splice donor site |
probably null |
|
|
R3022:Stx5a
|
UTSW |
19 |
8,732,518 (GRCm39) |
unclassified |
probably benign |
|
|
R4426:Stx5a
|
UTSW |
19 |
8,727,104 (GRCm39) |
missense |
probably benign |
0.02 |
|
R4684:Stx5a
|
UTSW |
19 |
8,720,725 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R5594:Stx5a
|
UTSW |
19 |
8,725,829 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5750:Stx5a
|
UTSW |
19 |
8,732,501 (GRCm39) |
unclassified |
probably benign |
|
|
R5929:Stx5a
|
UTSW |
19 |
8,719,675 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6644:Stx5a
|
UTSW |
19 |
8,732,612 (GRCm39) |
unclassified |
probably benign |
|
|
R6983:Stx5a
|
UTSW |
19 |
8,732,533 (GRCm39) |
unclassified |
probably benign |
|
|
R7242:Stx5a
|
UTSW |
19 |
8,732,641 (GRCm39) |
missense |
unknown |
|
|
R7258:Stx5a
|
UTSW |
19 |
8,732,271 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R7464:Stx5a
|
UTSW |
19 |
8,720,868 (GRCm39) |
unclassified |
probably benign |
|
|
R7871:Stx5a
|
UTSW |
19 |
8,732,482 (GRCm39) |
missense |
unknown |
|
|
R7880:Stx5a
|
UTSW |
19 |
8,719,692 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7980:Stx5a
|
UTSW |
19 |
8,719,802 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8375:Stx5a
|
UTSW |
19 |
8,732,462 (GRCm39) |
missense |
unknown |
|
|
R8739:Stx5a
|
UTSW |
19 |
8,725,924 (GRCm39) |
missense |
probably damaging |
0.96 |
|
X0020:Stx5a
|
UTSW |
19 |
8,726,254 (GRCm39) |
critical splice donor site |
probably benign |
|
|
| Predicted Primers |
PCR Primer
(F):5'- CCAGGATCGACGAGAATGTG -3'
(R):5'- AGCCTCTTCACAGCAGAGTC -3'
Sequencing Primer
(F):5'- AATGTGCTTGGAGCCCAG -3'
(R):5'- GTCCAAATCCAGAACCAGTGTGTTTC -3'
|
| Posted On |
2014-12-04 |
Incidental Mutation