Incidental Mutation 'R6644:Stx5a'
| ID |
526044 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Stx5a
|
| Ensembl Gene |
ENSMUSG00000010110 |
| Gene Name |
syntaxin 5A |
| Synonyms |
syntaxin 5, 0610031F24Rik, D19Ertd627e |
| MMRRC Submission |
044765-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R6644 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
19 |
| Chromosomal Location |
8718788-8733006 bp(+) (GRCm39) |
| Type of Mutation |
unclassified |
| DNA Base Change (assembly) |
A to T
at 8732612 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]
[ENSMUST00000177322]
[ENSMUST00000176968]
[ENSMUST00000177373]
[ENSMUST00000184970]
[ENSMUST00000183939]
[ENSMUST00000184756]
|
| 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: Y427F
|
| SMART Domains |
Protein: ENSMUSP00000010254
Gene: ENSMUSG00000010110
AA Change: Y427F
| 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 |
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: 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 |
noncoding transcript
Transcript: ENSMUST00000183780
|
| 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: 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 |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000176404
|
| 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 |
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.5%
- 20x: 92.3%
|
| Validation Efficiency |
100% (50/50) |
| 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: 50 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca7 |
C |
T |
10: 79,844,598 (GRCm39) |
P1461L |
probably damaging |
Het |
| Abhd14a |
T |
C |
9: 106,321,472 (GRCm39) |
Y10C |
probably damaging |
Het |
| Adcy2 |
C |
T |
13: 68,816,671 (GRCm39) |
V772M |
possibly damaging |
Het |
| Apob |
A |
G |
12: 8,059,077 (GRCm39) |
M2487V |
probably damaging |
Het |
| B4galnt1 |
T |
C |
10: 127,007,662 (GRCm39) |
|
probably null |
Het |
| Cabp7 |
C |
T |
11: 4,690,396 (GRCm39) |
V76I |
probably benign |
Het |
| Cbr3 |
A |
G |
16: 93,487,399 (GRCm39) |
Y194C |
probably damaging |
Het |
| Cdk18 |
G |
A |
1: 132,049,807 (GRCm39) |
Q58* |
probably null |
Het |
| Cryba4 |
T |
C |
5: 112,394,628 (GRCm39) |
D167G |
probably damaging |
Het |
| Czib |
T |
G |
4: 107,752,119 (GRCm39) |
I130S |
probably damaging |
Het |
| Dner |
T |
C |
1: 84,373,428 (GRCm39) |
N588S |
probably damaging |
Het |
| Dnm1l |
T |
C |
16: 16,147,737 (GRCm39) |
I343V |
probably benign |
Het |
| Eif1ad16 |
A |
G |
12: 87,985,460 (GRCm39) |
F28L |
probably benign |
Het |
| Fam168b |
C |
A |
1: 34,875,822 (GRCm39) |
G21V |
probably damaging |
Het |
| Fbxw17 |
G |
A |
13: 50,577,255 (GRCm39) |
R49Q |
probably damaging |
Het |
| Garin2 |
T |
A |
12: 78,762,060 (GRCm39) |
D241E |
probably damaging |
Het |
| Gm10332 |
T |
A |
14: 55,057,616 (GRCm39) |
F59I |
probably damaging |
Het |
| Gnai3 |
A |
G |
3: 108,030,852 (GRCm39) |
|
probably null |
Het |
| Helz |
T |
A |
11: 107,523,087 (GRCm39) |
M75K |
possibly damaging |
Het |
| Hnrnph3 |
C |
T |
10: 62,854,672 (GRCm39) |
|
probably benign |
Het |
| Ifi211 |
C |
T |
1: 173,733,118 (GRCm39) |
C181Y |
probably benign |
Het |
| Immp1l |
A |
G |
2: 105,767,390 (GRCm39) |
K83R |
probably damaging |
Het |
| Itga6 |
G |
A |
2: 71,671,468 (GRCm39) |
G740R |
probably damaging |
Het |
| Klhl1 |
T |
C |
14: 96,755,354 (GRCm39) |
T134A |
probably benign |
Het |
| Klhl7 |
A |
G |
5: 24,354,244 (GRCm39) |
D353G |
probably damaging |
Het |
| Map3k1 |
A |
G |
13: 111,888,983 (GRCm39) |
S1325P |
probably benign |
Het |
| Map3k4 |
A |
G |
17: 12,451,297 (GRCm39) |
|
probably null |
Het |
| Meioc |
G |
A |
11: 102,559,286 (GRCm39) |
|
probably null |
Het |
| Mfap5 |
T |
C |
6: 122,497,555 (GRCm39) |
F26L |
probably damaging |
Het |
| Myo5a |
A |
G |
9: 75,054,249 (GRCm39) |
T386A |
probably damaging |
Het |
| Npc1l1 |
A |
T |
11: 6,164,013 (GRCm39) |
L1266Q |
probably damaging |
Het |
| Npc1l1 |
G |
T |
11: 6,164,014 (GRCm39) |
L1266M |
probably damaging |
Het |
| Or4c116 |
A |
G |
2: 88,942,325 (GRCm39) |
M177T |
probably benign |
Het |
| Or51aa2 |
C |
A |
7: 103,188,265 (GRCm39) |
V59F |
possibly damaging |
Het |
| Pbld1 |
T |
A |
10: 62,910,842 (GRCm39) |
S233T |
probably damaging |
Het |
| Phf12 |
A |
G |
11: 77,916,918 (GRCm39) |
*789W |
probably null |
Het |
| Sf3b2 |
A |
T |
19: 5,329,992 (GRCm39) |
|
probably null |
Het |
| Slc23a3 |
A |
G |
1: 75,105,191 (GRCm39) |
I459T |
probably damaging |
Het |
| Spata31e4 |
A |
G |
13: 50,856,071 (GRCm39) |
T570A |
possibly damaging |
Het |
| Sptbn2 |
C |
G |
19: 4,799,040 (GRCm39) |
R2037G |
probably benign |
Het |
| Stard9 |
A |
C |
2: 120,526,253 (GRCm39) |
M837L |
probably benign |
Het |
| Tmc7 |
A |
G |
7: 118,137,385 (GRCm39) |
V719A |
probably benign |
Het |
| Trank1 |
T |
A |
9: 111,193,902 (GRCm39) |
I642K |
possibly damaging |
Het |
| Trim34a |
T |
C |
7: 103,910,244 (GRCm39) |
Y349H |
probably damaging |
Het |
| Uba7 |
A |
G |
9: 107,858,671 (GRCm39) |
Y834C |
possibly damaging |
Het |
| Ube2d1 |
A |
G |
10: 71,092,530 (GRCm39) |
S105P |
possibly damaging |
Het |
| Vps13a |
A |
G |
19: 16,722,283 (GRCm39) |
V343A |
possibly damaging |
Het |
| Zbtb37 |
G |
A |
1: 160,859,643 (GRCm39) |
Q221* |
probably null |
Het |
| Zfp119b |
T |
C |
17: 56,246,148 (GRCm39) |
N346S |
probably benign |
Het |
| Zfp708 |
G |
T |
13: 67,218,785 (GRCm39) |
T358K |
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 |
|
|
R2852:Stx5a
|
UTSW |
19 |
8,732,476 (GRCm39) |
unclassified |
probably benign |
|
|
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 |
|
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'- TCATTCTGAGCCACTCCATG -3'
(R):5'- CCCAGATGATGAAGTTGGTCCC -3'
Sequencing Primer
(F):5'- ACTCCATGGAGGGCTTGG -3'
(R):5'- CTCTCAAGAAGGAAGGGCGTTTTC -3'
|
| Posted On |
2018-06-22 |
Incidental Mutation