Incidental Mutation 'R8675:Stx16'
| ID |
661332 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Stx16
|
| Ensembl Gene |
ENSMUSG00000027522 |
| Gene Name |
syntaxin 16 |
| Synonyms |
5430410K23Rik, 6330500A18Rik, SYN16 |
| MMRRC Submission |
068530-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R8675 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
173918101-173941564 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 173934255 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 152
(S152P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000085218
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000044638]
[ENSMUST00000087908]
[ENSMUST00000134876]
[ENSMUST00000147038]
[ENSMUST00000155000]
|
| AlphaFold |
Q8BVI5 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000044638
AA Change: S153P
PolyPhen 2
Score 0.041 (Sensitivity: 0.94; Specificity: 0.83)
|
| SMART Domains |
Protein: ENSMUSP00000039543
Gene: ENSMUSG00000027522
AA Change: S153P
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:SynN
|
76 |
190 |
2e-20 |
BLAST |
|
t_SNARE
|
227 |
294 |
9.13e-23 |
SMART |
|
transmembrane domain
|
305 |
324 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000087908
AA Change: S152P
PolyPhen 2
Score 0.041 (Sensitivity: 0.94; Specificity: 0.83)
|
| SMART Domains |
Protein: ENSMUSP00000085218
Gene: ENSMUSG00000027522
AA Change: S152P
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Syntaxin
|
74 |
174 |
2.1e-15 |
PFAM |
|
t_SNARE
|
226 |
293 |
9.13e-23 |
SMART |
|
transmembrane domain
|
304 |
323 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000134876
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000147038
AA Change: S99P
PolyPhen 2
Score 0.041 (Sensitivity: 0.94; Specificity: 0.83)
|
| SMART Domains |
Protein: ENSMUSP00000120279
Gene: ENSMUSG00000027522
AA Change: S99P
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Syntaxin
|
21 |
121 |
3e-16 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000155000
|
| SMART Domains |
Protein: ENSMUSP00000119952
Gene: ENSMUSG00000027522
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Syntaxin
|
21 |
89 |
4.8e-13 |
PFAM |
|
| Predicted Effect |
|
| SMART Domains |
Protein: ENSMUSP00000116618
Gene: ENSMUSG00000027522
AA Change: S149P
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:SynN
|
73 |
187 |
5e-21 |
BLAST |
|
Pfam:SNARE
|
217 |
258 |
6.6e-18 |
PFAM |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.1%
|
| Validation Efficiency |
100% (37/37) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein that is 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. A microdeletion in the region of chromosome 20 where this gene is located has been associated with pseudohypoparathyroidism type Ib. Multiple transcript variants have been found for this gene. Read-through transcription also exists between this gene and the neighboring downstream aminopeptidase-like 1 (NPEPL1) gene. [provided by RefSeq, Mar 2011]
PHENOTYPE: Mice homozygous for a knock-out allele are viable and fertile and do not exhibit methylation abnormalities or develop a pseudohypoparathyroidism resistance phenotype. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 40 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700067P10Rik |
G |
T |
17: 48,400,849 (GRCm39) |
E45* |
probably null |
Het |
| Abl2 |
T |
C |
1: 156,452,909 (GRCm39) |
V148A |
probably damaging |
Het |
| Cacng7 |
G |
A |
7: 3,385,221 (GRCm39) |
V41I |
probably benign |
Het |
| Clrn3 |
A |
G |
7: 135,115,880 (GRCm39) |
S157P |
possibly damaging |
Het |
| Dsg2 |
T |
A |
18: 20,734,975 (GRCm39) |
N984K |
possibly damaging |
Het |
| Fam83e |
A |
G |
7: 45,373,293 (GRCm39) |
T220A |
probably benign |
Het |
| Frk |
A |
G |
10: 34,484,493 (GRCm39) |
T489A |
probably benign |
Het |
| Gigyf2 |
T |
A |
1: 87,331,438 (GRCm39) |
H195Q |
unknown |
Het |
| Gm49380 |
C |
T |
9: 44,023,187 (GRCm39) |
A354T |
probably benign |
Het |
| Igfbpl1 |
T |
C |
4: 45,813,469 (GRCm39) |
T249A |
possibly damaging |
Het |
| Il17ra |
T |
A |
6: 120,458,949 (GRCm39) |
M700K |
probably benign |
Het |
| Il20 |
A |
T |
1: 130,835,172 (GRCm39) |
W171R |
probably damaging |
Het |
| Mfsd4a |
T |
C |
1: 131,986,926 (GRCm39) |
Y134C |
probably damaging |
Het |
| Mis12 |
A |
G |
11: 70,916,500 (GRCm39) |
S178G |
probably benign |
Het |
| Pcdh1 |
A |
G |
18: 38,332,229 (GRCm39) |
V397A |
probably damaging |
Het |
| Pcsk4 |
T |
C |
10: 80,158,896 (GRCm39) |
Y499C |
probably damaging |
Het |
| Pgbd1 |
A |
G |
13: 21,607,183 (GRCm39) |
L337P |
probably damaging |
Het |
| Pigt |
CCAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGATCTGTAACCACAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGATCTGTAACCACAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGAT |
CCAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGATCTGTAACCACAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGAT |
2: 164,341,589 (GRCm39) |
|
probably null |
Het |
| Pih1d1 |
A |
G |
7: 44,803,806 (GRCm39) |
K22E |
unknown |
Het |
| Pkd1l1 |
A |
G |
11: 8,798,916 (GRCm39) |
|
probably null |
Het |
| Pld2 |
A |
G |
11: 70,445,713 (GRCm39) |
D649G |
probably null |
Het |
| Ralgapa1 |
T |
C |
12: 55,785,002 (GRCm39) |
T753A |
possibly damaging |
Het |
| Rapgef5 |
T |
A |
12: 117,547,782 (GRCm39) |
L141M |
probably damaging |
Het |
| Rasgrp4 |
G |
A |
7: 28,842,452 (GRCm39) |
G242D |
probably damaging |
Het |
| Rnf213 |
T |
C |
11: 119,346,984 (GRCm39) |
S3682P |
|
Het |
| Scnn1b |
A |
G |
7: 121,498,474 (GRCm39) |
K5E |
probably damaging |
Het |
| Smbd1 |
T |
C |
16: 32,625,340 (GRCm39) |
*142W |
probably null |
Het |
| Snrnp200 |
A |
G |
2: 127,074,443 (GRCm39) |
T1428A |
possibly damaging |
Het |
| Speer1b |
C |
T |
5: 11,823,973 (GRCm39) |
R174* |
probably null |
Het |
| Spire1 |
T |
C |
18: 67,624,378 (GRCm39) |
T594A |
possibly damaging |
Het |
| Spta1 |
A |
G |
1: 174,058,249 (GRCm39) |
T1906A |
probably benign |
Het |
| Tcp11 |
T |
A |
17: 28,288,565 (GRCm39) |
Q331L |
probably benign |
Het |
| Tmem106a |
T |
A |
11: 101,481,222 (GRCm39) |
Y243* |
probably null |
Het |
| Tmem268 |
C |
T |
4: 63,502,108 (GRCm39) |
T312M |
probably damaging |
Het |
| Ttc9 |
T |
G |
12: 81,707,379 (GRCm39) |
V146G |
probably damaging |
Het |
| Ubr3 |
T |
A |
2: 69,850,865 (GRCm39) |
I1758N |
probably damaging |
Het |
| Unc13a |
G |
A |
8: 72,098,359 (GRCm39) |
T1142I |
probably benign |
Het |
| Vipr1 |
T |
C |
9: 121,493,732 (GRCm39) |
L261P |
probably damaging |
Het |
| Vmn1r222 |
A |
T |
13: 23,416,607 (GRCm39) |
V202E |
probably damaging |
Het |
| Zfp78 |
A |
G |
7: 6,381,280 (GRCm39) |
N110S |
probably benign |
Het |
|
| Other mutations in Stx16 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01023:Stx16
|
APN |
2 |
173,934,202 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01626:Stx16
|
APN |
2 |
173,935,813 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03052:Stx16
|
UTSW |
2 |
173,934,231 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0257:Stx16
|
UTSW |
2 |
173,938,754 (GRCm39) |
missense |
probably benign |
0.39 |
|
R4929:Stx16
|
UTSW |
2 |
173,938,721 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R5728:Stx16
|
UTSW |
2 |
173,935,292 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R5729:Stx16
|
UTSW |
2 |
173,935,292 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R5746:Stx16
|
UTSW |
2 |
173,935,292 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R5772:Stx16
|
UTSW |
2 |
173,935,292 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R5774:Stx16
|
UTSW |
2 |
173,935,292 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R5776:Stx16
|
UTSW |
2 |
173,935,292 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R6147:Stx16
|
UTSW |
2 |
173,932,480 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6837:Stx16
|
UTSW |
2 |
173,935,795 (GRCm39) |
missense |
probably benign |
0.09 |
|
R8151:Stx16
|
UTSW |
2 |
173,935,284 (GRCm39) |
missense |
possibly damaging |
0.70 |
|
R9468:Stx16
|
UTSW |
2 |
173,933,327 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGTGTGTATGAAACCTCTAGTCACC -3'
(R):5'- TGCTGAAGAGAGAAACTGCCC -3'
Sequencing Primer
(F):5'- TTTTACCCTTGCACACACATG -3'
(R):5'- CTGCCCCAAAGGAGGACAG -3'
|
| Posted On |
2021-03-08 |
Incidental Mutation