Incidental Mutation 'R5929:Stx5a'
ID |
460129 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Stx5a
|
Ensembl Gene |
ENSMUSG00000010110 |
Gene Name |
syntaxin 5A |
Synonyms |
syntaxin 5, 0610031F24Rik, D19Ertd627e |
MMRRC Submission |
044124-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R5929 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
19 |
Chromosomal Location |
8718788-8733006 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to G
at 8719675 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 13
(D13E)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000135624
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000010254]
[ENSMUST00000049424]
[ENSMUST00000073430]
[ENSMUST00000163172]
[ENSMUST00000175872]
[ENSMUST00000175901]
[ENSMUST00000176013]
[ENSMUST00000176314]
[ENSMUST00000176381]
[ENSMUST00000177322]
[ENSMUST00000210512]
[ENSMUST00000210592]
[ENSMUST00000177373]
|
AlphaFold |
Q8K1E0 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000010254
AA Change: D13E
PolyPhen 2
Score 0.196 (Sensitivity: 0.92; Specificity: 0.87)
|
SMART Domains |
Protein: ENSMUSP00000010254 Gene: ENSMUSG00000010110 AA Change: D13E
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: ENSMUST00000049424
|
SMART Domains |
Protein: ENSMUSP00000043315 Gene: ENSMUSG00000042729
Domain | Start | End | E-Value | Type |
WD40
|
32 |
71 |
9.94e-1 |
SMART |
Blast:WD40
|
76 |
113 |
1e-16 |
BLAST |
WD40
|
120 |
159 |
1.85e0 |
SMART |
Blast:WD40
|
175 |
211 |
2e-16 |
BLAST |
Blast:WD40
|
214 |
255 |
2e-14 |
BLAST |
WD40
|
258 |
297 |
2.8e-3 |
SMART |
low complexity region
|
326 |
341 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000073430
AA Change: D13E
PolyPhen 2
Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)
|
SMART Domains |
Protein: ENSMUSP00000073136 Gene: ENSMUSG00000010110 AA Change: D13E
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: ENSMUST00000163172
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000175642
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000175872
AA Change: D13E
PolyPhen 2
Score 0.044 (Sensitivity: 0.94; Specificity: 0.83)
|
SMART Domains |
Protein: ENSMUSP00000135416 Gene: ENSMUSG00000010110 AA Change: D13E
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: D13E
PolyPhen 2
Score 0.044 (Sensitivity: 0.94; Specificity: 0.83)
|
SMART Domains |
Protein: ENSMUSP00000134951 Gene: ENSMUSG00000010110 AA Change: D13E
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: ENSMUST00000176260
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000176013
AA Change: D13E
PolyPhen 2
Score 0.164 (Sensitivity: 0.92; Specificity: 0.87)
|
SMART Domains |
Protein: ENSMUSP00000135465 Gene: ENSMUSG00000010110 AA Change: D13E
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: ENSMUST00000176093
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000176314
AA Change: D13E
PolyPhen 2
Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000135348 Gene: ENSMUSG00000010110 AA Change: D13E
Domain | Start | End | E-Value | Type |
low complexity region
|
26 |
44 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000176381
AA Change: D13E
PolyPhen 2
Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)
|
SMART Domains |
Protein: ENSMUSP00000134854 Gene: ENSMUSG00000010110 AA Change: D13E
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 damaging
Transcript: ENSMUST00000177322
AA Change: D13E
PolyPhen 2
Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000135624 Gene: ENSMUSG00000010110 AA Change: D13E
Domain | Start | End | E-Value | Type |
low complexity region
|
26 |
44 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000187020
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000210512
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000183342
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000176009
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000210592
|
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 |
|
Meta Mutation Damage Score |
0.0601 |
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.6%
- 20x: 92.7%
|
Validation Efficiency |
99% (84/85) |
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: 69 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Ang4 |
C |
T |
14: 52,001,708 (GRCm39) |
C80Y |
probably damaging |
Het |
Ankib1 |
T |
C |
5: 3,819,633 (GRCm39) |
I95M |
possibly damaging |
Het |
Ankrd1 |
T |
C |
19: 36,095,277 (GRCm39) |
E137G |
possibly damaging |
Het |
Car6 |
T |
C |
4: 150,280,592 (GRCm39) |
H84R |
probably damaging |
Het |
Casd1 |
T |
A |
6: 4,629,993 (GRCm39) |
L463Q |
probably damaging |
Het |
Casz1 |
T |
A |
4: 149,023,426 (GRCm39) |
L491Q |
probably damaging |
Het |
Casz1 |
C |
T |
4: 149,023,153 (GRCm39) |
S400L |
probably damaging |
Het |
Catsperd |
A |
T |
17: 56,959,493 (GRCm39) |
H311L |
probably benign |
Het |
Ccdc83 |
A |
G |
7: 89,885,524 (GRCm39) |
|
probably benign |
Het |
Cd163 |
G |
A |
6: 124,303,568 (GRCm39) |
|
probably null |
Het |
Cd244a |
A |
T |
1: 171,386,935 (GRCm39) |
R15W |
probably damaging |
Het |
Ces3b |
A |
G |
8: 105,819,797 (GRCm39) |
K490R |
probably damaging |
Het |
Chordc1 |
T |
C |
9: 18,215,658 (GRCm39) |
S137P |
possibly damaging |
Het |
Col4a1 |
T |
A |
8: 11,266,788 (GRCm39) |
T1140S |
probably benign |
Het |
Col6a4 |
T |
C |
9: 105,940,243 (GRCm39) |
E1229G |
probably benign |
Het |
Cr2 |
A |
G |
1: 194,853,419 (GRCm39) |
S20P |
possibly damaging |
Het |
Dcaf13 |
T |
A |
15: 39,007,048 (GRCm39) |
H327Q |
possibly damaging |
Het |
Depdc5 |
G |
T |
5: 33,132,850 (GRCm39) |
E646* |
probably null |
Het |
Dnah5 |
G |
A |
15: 28,311,353 (GRCm39) |
M1777I |
probably benign |
Het |
Dnah5 |
G |
T |
15: 28,311,354 (GRCm39) |
A1778S |
probably damaging |
Het |
Dnajc5b |
T |
C |
3: 19,601,019 (GRCm39) |
Y39H |
probably damaging |
Het |
Dsp |
A |
T |
13: 38,379,410 (GRCm39) |
I1453F |
possibly damaging |
Het |
Fyn |
T |
A |
10: 39,427,457 (GRCm39) |
W447R |
probably damaging |
Het |
Gabra6 |
T |
A |
11: 42,208,389 (GRCm39) |
M148L |
probably damaging |
Het |
Gcfc2 |
T |
A |
6: 81,923,580 (GRCm39) |
V32D |
probably damaging |
Het |
Ginm1 |
G |
T |
10: 7,649,814 (GRCm39) |
L160I |
probably benign |
Het |
Gm19345 |
A |
G |
7: 19,591,747 (GRCm39) |
Y221H |
probably damaging |
Het |
Gpr155 |
G |
A |
2: 73,204,011 (GRCm39) |
R268* |
probably null |
Het |
Hacl1 |
T |
A |
14: 31,338,345 (GRCm39) |
M411L |
probably benign |
Het |
Hdac3 |
C |
T |
18: 38,074,394 (GRCm39) |
|
probably benign |
Het |
Hmcn1 |
C |
A |
1: 150,453,047 (GRCm39) |
E5423* |
probably null |
Het |
Ipo4 |
T |
C |
14: 55,868,646 (GRCm39) |
H454R |
probably benign |
Het |
Itpr1 |
A |
T |
6: 108,400,297 (GRCm39) |
I1693F |
probably benign |
Het |
Kif12 |
T |
C |
4: 63,086,754 (GRCm39) |
T361A |
probably damaging |
Het |
Kif21b |
A |
G |
1: 136,078,945 (GRCm39) |
E431G |
probably damaging |
Het |
Kif27 |
C |
T |
13: 58,491,784 (GRCm39) |
A452T |
probably benign |
Het |
Kifbp |
A |
T |
10: 62,395,181 (GRCm39) |
I487N |
probably damaging |
Het |
Lhcgr |
A |
T |
17: 89,050,436 (GRCm39) |
Y363* |
probably null |
Het |
Lrrc8d |
A |
T |
5: 105,960,472 (GRCm39) |
K294I |
probably damaging |
Het |
Mapk3 |
A |
C |
7: 126,359,030 (GRCm39) |
|
probably benign |
Het |
Mogat1 |
A |
T |
1: 78,500,370 (GRCm39) |
I145F |
probably benign |
Het |
Mtmr7 |
T |
C |
8: 41,011,399 (GRCm39) |
|
probably null |
Het |
Ndufaf6 |
T |
C |
4: 11,051,150 (GRCm39) |
N317D |
probably benign |
Het |
Nfe2l1 |
G |
T |
11: 96,718,185 (GRCm39) |
Q117K |
probably damaging |
Het |
Odad3 |
T |
C |
9: 21,913,718 (GRCm39) |
E18G |
possibly damaging |
Het |
Olfm3 |
T |
G |
3: 114,895,529 (GRCm39) |
I137S |
probably damaging |
Het |
Or4f7d-ps1 |
T |
A |
2: 111,674,631 (GRCm39) |
|
noncoding transcript |
Het |
Otub1 |
G |
A |
19: 7,177,350 (GRCm39) |
S99F |
probably damaging |
Het |
Padi2 |
T |
G |
4: 140,671,848 (GRCm39) |
|
probably null |
Het |
Paip1 |
C |
T |
13: 119,582,326 (GRCm39) |
T268I |
probably damaging |
Het |
Pak1ip1 |
T |
C |
13: 41,158,276 (GRCm39) |
S50P |
probably benign |
Het |
Pcdhb18 |
G |
A |
18: 37,623,537 (GRCm39) |
R289Q |
probably benign |
Het |
Phkb |
A |
G |
8: 86,697,543 (GRCm39) |
I451V |
probably benign |
Het |
Plcg1 |
T |
A |
2: 160,595,522 (GRCm39) |
|
probably null |
Het |
Prg4 |
A |
G |
1: 150,329,880 (GRCm39) |
F722S |
probably benign |
Het |
Prss3 |
T |
C |
6: 41,353,738 (GRCm39) |
|
probably null |
Het |
Psmd3 |
C |
T |
11: 98,586,422 (GRCm39) |
P530L |
probably damaging |
Het |
Rims1 |
A |
T |
1: 22,507,322 (GRCm39) |
D609E |
probably damaging |
Het |
Sema3f |
T |
C |
9: 107,569,392 (GRCm39) |
Y82C |
probably damaging |
Het |
Shoc1 |
G |
T |
4: 59,092,497 (GRCm39) |
S228* |
probably null |
Het |
Slc35b2 |
G |
T |
17: 45,877,587 (GRCm39) |
W238L |
probably benign |
Het |
Sox12 |
T |
C |
2: 152,239,308 (GRCm39) |
Y104C |
probably damaging |
Het |
Tlr7 |
C |
A |
X: 166,089,878 (GRCm39) |
G536V |
probably damaging |
Het |
Tspan12 |
A |
G |
6: 21,772,746 (GRCm39) |
S220P |
possibly damaging |
Het |
Utp11 |
T |
C |
4: 124,576,036 (GRCm39) |
T173A |
probably damaging |
Het |
Wrnip1 |
G |
C |
13: 32,990,949 (GRCm39) |
D403H |
probably damaging |
Het |
Xpnpep1 |
T |
C |
19: 53,001,920 (GRCm39) |
T109A |
probably damaging |
Het |
Zfp354b |
A |
T |
11: 50,813,282 (GRCm39) |
F548I |
probably damaging |
Het |
Zup1 |
A |
T |
10: 33,825,043 (GRCm39) |
Y146* |
probably null |
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 |
|
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'- TTTCTCGACTTTAGGGGCCC -3'
(R):5'- AGCTTCTTACCTGACGGCTC -3'
Sequencing Primer
(F):5'- TGGAGGAAGCTGACCGTTCTC -3'
(R):5'- TTACCTGACGGCTCTGCAG -3'
|
Posted On |
2017-02-28 |