Incidental Mutation 'R6688:Stx1b'
| ID |
527861 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Stx1b
|
| Ensembl Gene |
ENSMUSG00000030806 |
| Gene Name |
syntaxin 1B |
| Synonyms |
Stx1b2 |
| MMRRC Submission |
044806-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.324)
|
| Stock # |
R6688 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
127403072-127423703 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 127407068 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Glutamine
at position 209
(R209Q)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000101874
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000046863]
[ENSMUST00000106267]
[ENSMUST00000106271]
[ENSMUST00000106272]
[ENSMUST00000154987]
[ENSMUST00000156135]
|
| AlphaFold |
P61264 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000046863
|
| SMART Domains |
Protein: ENSMUSP00000036245
Gene: ENSMUSG00000042289
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:KR
|
11 |
147 |
3e-10 |
PFAM |
|
Pfam:RmlD_sub_bind
|
11 |
198 |
8.1e-10 |
PFAM |
|
Pfam:Polysacc_synt_2
|
12 |
140 |
4.6e-13 |
PFAM |
|
Pfam:NmrA
|
12 |
142 |
1.9e-9 |
PFAM |
|
Pfam:Epimerase
|
12 |
215 |
3.2e-25 |
PFAM |
|
Pfam:GDP_Man_Dehyd
|
13 |
185 |
8.1e-17 |
PFAM |
|
Pfam:3Beta_HSD
|
13 |
290 |
5.4e-99 |
PFAM |
|
Pfam:NAD_binding_4
|
14 |
240 |
1.4e-15 |
PFAM |
|
transmembrane domain
|
312 |
334 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000106267
AA Change: R209Q
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000101874
Gene: ENSMUSG00000030806
AA Change: R209Q
| Domain | Start | End | E-Value | Type |
|---|
|
SynN
|
24 |
145 |
1.99e-44 |
SMART |
|
t_SNARE
|
186 |
253 |
4.32e-24 |
SMART |
|
transmembrane domain
|
265 |
287 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000106271
|
| SMART Domains |
Protein: ENSMUSP00000101878
Gene: ENSMUSG00000042289
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:adh_short
|
10 |
143 |
1.3e-13 |
PFAM |
|
Pfam:RmlD_sub_bind
|
10 |
186 |
3.7e-10 |
PFAM |
|
Pfam:KR
|
11 |
140 |
5.7e-10 |
PFAM |
|
Pfam:Polysacc_synt_2
|
12 |
140 |
2.8e-13 |
PFAM |
|
Pfam:NmrA
|
12 |
141 |
2.7e-9 |
PFAM |
|
Pfam:Epimerase
|
12 |
220 |
2.9e-26 |
PFAM |
|
Pfam:NAD_binding_10
|
13 |
186 |
2.3e-11 |
PFAM |
|
Pfam:3Beta_HSD
|
13 |
216 |
1e-70 |
PFAM |
|
Pfam:NAD_binding_4
|
14 |
183 |
1.3e-17 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000106272
|
| SMART Domains |
Protein: ENSMUSP00000101879
Gene: ENSMUSG00000042289
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:adh_short
|
10 |
143 |
3.7e-13 |
PFAM |
|
Pfam:RmlD_sub_bind
|
10 |
180 |
2.8e-9 |
PFAM |
|
Pfam:KR
|
11 |
139 |
1.6e-9 |
PFAM |
|
Pfam:Polysacc_synt_2
|
12 |
140 |
7.7e-13 |
PFAM |
|
Pfam:NmrA
|
12 |
141 |
7.3e-9 |
PFAM |
|
Pfam:Epimerase
|
12 |
215 |
7.1e-26 |
PFAM |
|
Pfam:NAD_binding_10
|
13 |
179 |
1.1e-10 |
PFAM |
|
Pfam:3Beta_HSD
|
13 |
188 |
6.1e-70 |
PFAM |
|
Pfam:NAD_binding_4
|
14 |
187 |
1.5e-17 |
PFAM |
|
Pfam:3Beta_HSD
|
177 |
261 |
4e-23 |
PFAM |
|
transmembrane domain
|
281 |
303 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000132702
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000144748
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000154987
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000156135
AA Change: R63Q
PolyPhen 2
Score 0.322 (Sensitivity: 0.90; Specificity: 0.89)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000206297
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.5%
- 20x: 95.8%
|
| Validation Efficiency |
100% (33/33) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene belongs to a family of proteins thought to play a role in the exocytosis of synaptic vesicles. Vesicle exocytosis releases vesicular contents and is important to various cellular functions. For instance, the secretion of transmitters from neurons plays an important role in synaptic transmission. After exocytosis, the membrane and proteins from the vesicle are retrieved from the plasma membrane through the process of endocytosis. Mutations in this gene have been identified as one cause of fever-associated epilepsy syndromes. A possible link between this gene and Parkinson's disease has also been suggested. [provided by RefSeq, Jan 2015]
PHENOTYPE: Mice homozygous for a reporter allele that encodes an 'open' syntaxin-1B protein conformation are viable but display severe ataxia, reduced chromaffin vesicle docking, accelerated synaptic vesicle fusion, and lethal epileptic seizures after 2 weeks of age. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 30 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Atxn1 |
A |
T |
13: 45,721,147 (GRCm39) |
H249Q |
probably damaging |
Het |
| Cd22 |
A |
C |
7: 30,572,389 (GRCm39) |
S362A |
possibly damaging |
Het |
| Cep120 |
G |
A |
18: 53,857,608 (GRCm39) |
P286S |
probably benign |
Het |
| Ces1g |
G |
A |
8: 94,033,600 (GRCm39) |
P441S |
possibly damaging |
Het |
| Ces2h |
A |
G |
8: 105,744,472 (GRCm39) |
I316V |
probably benign |
Het |
| Cntnap5c |
T |
A |
17: 58,600,899 (GRCm39) |
D747E |
possibly damaging |
Het |
| Cwf19l2 |
T |
C |
9: 3,450,015 (GRCm39) |
V572A |
probably benign |
Het |
| Cyb5rl |
C |
T |
4: 106,931,102 (GRCm39) |
A128V |
probably damaging |
Het |
| Dnttip1 |
T |
C |
2: 164,607,081 (GRCm39) |
Y241H |
probably damaging |
Het |
| Gm2381 |
G |
A |
7: 42,470,010 (GRCm39) |
A38V |
probably benign |
Het |
| Golga4 |
A |
G |
9: 118,343,278 (GRCm39) |
T11A |
possibly damaging |
Het |
| Ip6k2 |
C |
A |
9: 108,683,210 (GRCm39) |
T440K |
probably benign |
Het |
| Kif5c |
A |
G |
2: 49,578,749 (GRCm39) |
N126D |
probably benign |
Het |
| Mdn1 |
T |
A |
4: 32,774,041 (GRCm39) |
F5551I |
possibly damaging |
Het |
| Myh11 |
A |
G |
16: 14,023,417 (GRCm39) |
L1587P |
probably damaging |
Het |
| Nherf4 |
C |
T |
9: 44,159,527 (GRCm39) |
|
probably null |
Het |
| Nop53 |
A |
G |
7: 15,679,779 (GRCm39) |
V67A |
possibly damaging |
Het |
| Or1o1 |
G |
A |
17: 37,716,796 (GRCm39) |
R119H |
probably benign |
Het |
| Paxip1 |
T |
C |
5: 27,949,135 (GRCm39) |
T1045A |
probably benign |
Het |
| Plg |
A |
T |
17: 12,610,732 (GRCm39) |
H215L |
probably damaging |
Het |
| Psmb5 |
C |
A |
14: 54,854,130 (GRCm39) |
R116L |
probably damaging |
Het |
| Rapgef2 |
T |
A |
3: 78,976,435 (GRCm39) |
Q1307L |
probably benign |
Het |
| Serpini2 |
T |
C |
3: 75,166,870 (GRCm39) |
E129G |
possibly damaging |
Het |
| Tcf20 |
A |
G |
15: 82,738,736 (GRCm39) |
I905T |
possibly damaging |
Het |
| Tmem252 |
G |
A |
19: 24,651,463 (GRCm39) |
A11T |
probably benign |
Het |
| Tpst2 |
A |
G |
5: 112,455,623 (GRCm39) |
N54S |
probably benign |
Het |
| Usp31 |
T |
C |
7: 121,277,553 (GRCm39) |
S269G |
probably benign |
Het |
| Wasf1 |
T |
C |
10: 40,802,616 (GRCm39) |
|
probably null |
Het |
| Zfp429 |
A |
T |
13: 67,544,249 (GRCm39) |
V58D |
probably damaging |
Het |
| Zfp958 |
A |
G |
8: 4,678,940 (GRCm39) |
T322A |
possibly damaging |
Het |
|
| Other mutations in Stx1b |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00540:Stx1b
|
APN |
7 |
127,409,870 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02730:Stx1b
|
APN |
7 |
127,414,549 (GRCm39) |
missense |
probably benign |
0.37 |
|
IGL03394:Stx1b
|
APN |
7 |
127,407,056 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0680:Stx1b
|
UTSW |
7 |
127,406,895 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R1141:Stx1b
|
UTSW |
7 |
127,410,098 (GRCm39) |
splice site |
probably null |
|
|
R1511:Stx1b
|
UTSW |
7 |
127,414,144 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2024:Stx1b
|
UTSW |
7 |
127,414,575 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2116:Stx1b
|
UTSW |
7 |
127,410,077 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4964:Stx1b
|
UTSW |
7 |
127,407,093 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4966:Stx1b
|
UTSW |
7 |
127,407,093 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5385:Stx1b
|
UTSW |
7 |
127,414,575 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5386:Stx1b
|
UTSW |
7 |
127,414,575 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5777:Stx1b
|
UTSW |
7 |
127,410,090 (GRCm39) |
nonsense |
probably null |
|
|
R6092:Stx1b
|
UTSW |
7 |
127,407,035 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R6184:Stx1b
|
UTSW |
7 |
127,407,077 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R6843:Stx1b
|
UTSW |
7 |
127,414,151 (GRCm39) |
nonsense |
probably null |
|
|
R7493:Stx1b
|
UTSW |
7 |
127,406,531 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R7919:Stx1b
|
UTSW |
7 |
127,406,507 (GRCm39) |
missense |
probably benign |
0.19 |
|
R8401:Stx1b
|
UTSW |
7 |
127,406,945 (GRCm39) |
splice site |
probably benign |
|
|
R9164:Stx1b
|
UTSW |
7 |
127,414,159 (GRCm39) |
missense |
probably benign |
|
|
R9608:Stx1b
|
UTSW |
7 |
127,406,551 (GRCm39) |
missense |
probably damaging |
0.99 |
|
| Predicted Primers |
PCR Primer
(F):5'- ACAGCTTTCTTGGTGTCAGAC -3'
(R):5'- TATCACTACACAAGGATTTGAACCC -3'
Sequencing Primer
(F):5'- TGTCAGACACGGCTCGTTC -3'
(R):5'- GATTTGAACCCAAACCCTCTGTTG -3'
|
| Posted On |
2018-07-23 |
Incidental Mutation