Incidental Mutation 'R4426:Stx5a'
| ID |
328209 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Stx5a
|
| Ensembl Gene |
ENSMUSG00000010110 |
| Gene Name |
syntaxin 5A |
| Synonyms |
syntaxin 5, 0610031F24Rik, D19Ertd627e |
| MMRRC Submission |
041697-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R4426 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
19 |
| Chromosomal Location |
8718788-8733006 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 8727104 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 252
(T252A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000010254
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000010254]
[ENSMUST00000073430]
[ENSMUST00000175872]
[ENSMUST00000175901]
[ENSMUST00000176013]
[ENSMUST00000176570]
[ENSMUST00000176381]
[ENSMUST00000176968]
[ENSMUST00000177373]
[ENSMUST00000177322]
|
| AlphaFold |
Q8K1E0 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000010254
AA Change: T252A
PolyPhen 2
Score 0.018 (Sensitivity: 0.95; Specificity: 0.80)
|
| SMART Domains |
Protein: ENSMUSP00000010254
Gene: ENSMUSG00000010110
AA Change: T252A
| 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
AA Change: T252A
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000073136
Gene: ENSMUSG00000010110
AA Change: T252A
| 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: ENSMUST00000175834
|
| 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: ENSMUST00000175901
AA Change: T252A
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000134951
Gene: ENSMUSG00000010110
AA Change: T252A
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
26 |
44 |
N/A |
INTRINSIC |
|
Pfam:Syntaxin
|
90 |
194 |
4e-16 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000176009
|
| 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 |
probably benign
Transcript: ENSMUST00000176570
AA Change: T6A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000134892
Gene: ENSMUSG00000010110
AA Change: T6A
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:SNARE
|
22 |
57 |
2.9e-12 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000176381
AA Change: T252A
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000134854
Gene: ENSMUSG00000010110
AA Change: T252A
| 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: ENSMUST00000176968
AA Change: T6A
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000135468
Gene: ENSMUSG00000010110
AA Change: T6A
| 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
AA Change: T156A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000134794
Gene: ENSMUSG00000010110
AA Change: T156A
| 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: ENSMUST00000176260
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000176404
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000176182
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000176844
|
| 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 |
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 97.1%
- 20x: 94.8%
|
| Validation Efficiency |
|
| 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: 62 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Albfm1 |
G |
T |
5: 90,720,642 (GRCm39) |
C271F |
probably damaging |
Het |
| Arhgef39 |
C |
T |
4: 43,497,112 (GRCm39) |
G293E |
possibly damaging |
Het |
| Atp8a1 |
A |
C |
5: 67,932,171 (GRCm39) |
I206S |
probably benign |
Het |
| Cacnb2 |
A |
T |
2: 14,980,026 (GRCm39) |
R290* |
probably null |
Het |
| Ccdc137 |
T |
C |
11: 120,351,074 (GRCm39) |
S159P |
probably damaging |
Het |
| Chil5 |
A |
G |
3: 105,926,943 (GRCm39) |
S231P |
probably damaging |
Het |
| Cic |
C |
T |
7: 24,993,433 (GRCm39) |
|
probably benign |
Het |
| Csmd3 |
A |
G |
15: 47,532,581 (GRCm39) |
V2434A |
possibly damaging |
Het |
| Csnk1a1 |
A |
G |
18: 61,718,381 (GRCm39) |
|
probably benign |
Het |
| Eif4e1b |
T |
C |
13: 54,932,296 (GRCm39) |
S49P |
probably benign |
Het |
| Far1 |
C |
A |
7: 113,149,208 (GRCm39) |
P194Q |
probably benign |
Het |
| Fut4 |
T |
C |
9: 14,662,677 (GRCm39) |
T206A |
possibly damaging |
Het |
| Galnt7 |
G |
T |
8: 58,005,606 (GRCm39) |
S209* |
probably null |
Het |
| Gas2l1 |
A |
G |
11: 5,013,908 (GRCm39) |
V184A |
probably benign |
Het |
| Herc1 |
T |
C |
9: 66,403,287 (GRCm39) |
L4402P |
probably damaging |
Het |
| Hoxa13 |
C |
A |
6: 52,237,714 (GRCm39) |
|
probably benign |
Het |
| Ighv1-9 |
T |
A |
12: 114,547,416 (GRCm39) |
K42* |
probably null |
Het |
| Kif20a |
C |
T |
18: 34,764,994 (GRCm39) |
R743W |
probably damaging |
Het |
| Lama2 |
G |
A |
10: 27,298,554 (GRCm39) |
R181C |
probably damaging |
Het |
| Lrp2 |
G |
T |
2: 69,336,692 (GRCm39) |
T1360K |
probably benign |
Het |
| Map4k1 |
G |
A |
7: 28,688,020 (GRCm39) |
V177I |
probably damaging |
Het |
| Nbea |
G |
A |
3: 55,989,800 (GRCm39) |
T352I |
probably damaging |
Het |
| Nde1 |
A |
G |
16: 14,006,200 (GRCm39) |
T82A |
possibly damaging |
Het |
| Nes |
A |
G |
3: 87,883,349 (GRCm39) |
E536G |
probably damaging |
Het |
| Nms |
C |
T |
1: 38,978,377 (GRCm39) |
P4L |
probably benign |
Het |
| Nrip1 |
T |
C |
16: 76,088,293 (GRCm39) |
Q1088R |
possibly damaging |
Het |
| Nwd1 |
A |
G |
8: 73,393,423 (GRCm39) |
K229E |
probably damaging |
Het |
| Or51f1d |
T |
C |
7: 102,701,018 (GRCm39) |
L171P |
probably damaging |
Het |
| Or52ad1 |
A |
G |
7: 102,995,290 (GRCm39) |
Y282H |
probably damaging |
Het |
| Pcdhac2 |
T |
A |
18: 37,277,796 (GRCm39) |
S259T |
probably benign |
Het |
| Pdcd5 |
T |
C |
7: 35,345,605 (GRCm39) |
D102G |
possibly damaging |
Het |
| Pgm1 |
T |
C |
4: 99,819,337 (GRCm39) |
V169A |
probably benign |
Het |
| Pitpnm2 |
C |
T |
5: 124,280,186 (GRCm39) |
E121K |
probably benign |
Het |
| Plin3 |
T |
C |
17: 56,593,555 (GRCm39) |
Y53C |
probably damaging |
Het |
| Poc1b |
T |
C |
10: 98,991,001 (GRCm39) |
|
probably null |
Het |
| Polr2c |
A |
T |
8: 95,590,090 (GRCm39) |
N232Y |
probably damaging |
Het |
| Ppp1r9b |
A |
T |
11: 94,892,150 (GRCm39) |
R188S |
possibly damaging |
Het |
| Rab36 |
G |
A |
10: 74,880,328 (GRCm39) |
V63I |
probably damaging |
Het |
| Rab3gap2 |
G |
A |
1: 184,967,539 (GRCm39) |
S141N |
probably damaging |
Het |
| Radx |
T |
C |
X: 138,381,645 (GRCm39) |
V134A |
possibly damaging |
Het |
| Rap1gap2 |
C |
A |
11: 74,298,148 (GRCm39) |
A491S |
possibly damaging |
Het |
| Rnf166 |
A |
G |
8: 123,196,979 (GRCm39) |
L91P |
probably damaging |
Het |
| Robo2 |
T |
A |
16: 73,745,154 (GRCm39) |
M200L |
probably damaging |
Het |
| Rp1 |
A |
T |
1: 4,418,147 (GRCm39) |
H988Q |
probably benign |
Het |
| Sbno2 |
T |
C |
10: 79,908,192 (GRCm39) |
K69R |
probably null |
Het |
| Sgce |
G |
A |
6: 4,691,459 (GRCm39) |
A295V |
probably damaging |
Het |
| Shc3 |
C |
G |
13: 51,634,130 (GRCm39) |
|
probably null |
Het |
| Slc44a1 |
T |
C |
4: 53,563,286 (GRCm39) |
V671A |
probably benign |
Het |
| Sptbn4 |
A |
C |
7: 27,123,223 (GRCm39) |
L233R |
probably damaging |
Het |
| Timd6 |
T |
A |
11: 46,475,247 (GRCm39) |
F147L |
probably benign |
Het |
| Tmem87b |
C |
T |
2: 128,688,670 (GRCm39) |
A485V |
probably benign |
Het |
| Tns1 |
A |
G |
1: 74,024,908 (GRCm39) |
I403T |
probably damaging |
Het |
| Ttll10 |
G |
C |
4: 156,133,018 (GRCm39) |
T22R |
possibly damaging |
Het |
| Uevld |
A |
T |
7: 46,589,890 (GRCm39) |
S293T |
probably benign |
Het |
| Utp18 |
T |
C |
11: 93,757,264 (GRCm39) |
N467D |
probably damaging |
Het |
| Vmn1r39 |
A |
T |
6: 66,782,345 (GRCm39) |
|
probably null |
Het |
| Vmn2r106 |
A |
G |
17: 20,505,641 (GRCm39) |
S18P |
probably benign |
Het |
| Vmn2r61 |
A |
T |
7: 41,950,157 (GRCm39) |
H859L |
probably benign |
Het |
| Vmn2r61 |
T |
C |
7: 41,950,159 (GRCm39) |
S860P |
probably benign |
Het |
| Vmn2r72 |
G |
A |
7: 85,387,036 (GRCm39) |
R843* |
probably null |
Het |
| Vwc2 |
A |
G |
11: 11,104,235 (GRCm39) |
T256A |
probably damaging |
Het |
| Zfp715 |
T |
C |
7: 42,960,516 (GRCm39) |
D25G |
probably 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 |
|
|
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'- GAACCATGCCTATACATTCTCATG -3'
(R):5'- TGGATGTAGGAATCCTTCAGAAG -3'
Sequencing Primer
(F):5'- GATCAGATTGGCCTCAGACTCATAG -3'
(R):5'- GAAGAAAACACCATGAACTAGGGCC -3'
|
| Posted On |
2015-07-07 |
Incidental Mutation