Incidental Mutation 'R6837:Stx16'
| ID |
543639 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Stx16
|
| Ensembl Gene |
ENSMUSG00000027522 |
| Gene Name |
syntaxin 16 |
| Synonyms |
5430410K23Rik, 6330500A18Rik, SYN16 |
| MMRRC Submission |
044945-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6837 (G1)
|
| Quality Score |
43.0073 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
173918101-173941564 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 173935795 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Histidine
at position 242
(R242H)
|
| 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: R243H
PolyPhen 2
Score 0.094 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000039543
Gene: ENSMUSG00000027522
AA Change: R243H
| 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: R242H
PolyPhen 2
Score 0.094 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000085218
Gene: ENSMUSG00000027522
AA Change: R242H
| 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
|
| SMART Domains |
Protein: ENSMUSP00000120279
Gene: ENSMUSG00000027522
| 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 |
probably benign
Transcript: ENSMUST00000156054
|
| SMART Domains |
Protein: ENSMUSP00000116618
Gene: ENSMUSG00000027522
| 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: 99.6%
- 20x: 98.9%
|
| Validation Efficiency |
98% (41/42) |
| 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: 41 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Akap6 |
G |
A |
12: 53,188,045 (GRCm39) |
E1820K |
probably damaging |
Het |
| Anxa8 |
A |
T |
14: 33,814,511 (GRCm39) |
I116F |
probably damaging |
Het |
| Arid4a |
A |
G |
12: 71,122,289 (GRCm39) |
D890G |
probably benign |
Het |
| Aup1 |
C |
T |
6: 83,034,279 (GRCm39) |
T396I |
possibly damaging |
Het |
| C2cd3 |
G |
C |
7: 100,097,953 (GRCm39) |
E594Q |
probably damaging |
Het |
| Colgalt2 |
C |
T |
1: 152,382,579 (GRCm39) |
P477L |
probably damaging |
Het |
| Dennd3 |
G |
A |
15: 73,429,542 (GRCm39) |
D20N |
probably damaging |
Het |
| Dpysl3 |
A |
G |
18: 43,570,947 (GRCm39) |
I109T |
probably benign |
Het |
| Fas |
A |
T |
19: 34,284,564 (GRCm39) |
T24S |
probably damaging |
Het |
| Fras1 |
A |
T |
5: 96,874,832 (GRCm39) |
I2332F |
probably damaging |
Het |
| Gm10267 |
T |
C |
18: 44,291,375 (GRCm39) |
H32R |
probably benign |
Het |
| Gm57859 |
A |
G |
11: 113,579,439 (GRCm39) |
H278R |
possibly damaging |
Het |
| Hcfc2 |
A |
T |
10: 82,575,030 (GRCm39) |
I230F |
probably damaging |
Het |
| Hdac9 |
T |
C |
12: 34,337,463 (GRCm39) |
T673A |
probably benign |
Het |
| Herc2 |
T |
G |
7: 55,839,589 (GRCm39) |
N3366K |
possibly damaging |
Het |
| Hhla1 |
T |
C |
15: 65,820,334 (GRCm39) |
N139D |
probably damaging |
Het |
| Hip1r |
A |
G |
5: 124,136,928 (GRCm39) |
E632G |
possibly damaging |
Het |
| Kcnc2 |
A |
G |
10: 112,294,407 (GRCm39) |
D98G |
probably damaging |
Het |
| Maip1 |
T |
A |
1: 57,454,891 (GRCm39) |
*292K |
probably null |
Het |
| Map2 |
T |
C |
1: 66,453,731 (GRCm39) |
F874L |
probably damaging |
Het |
| Myof |
A |
T |
19: 37,911,404 (GRCm39) |
|
probably null |
Het |
| Notch2 |
A |
G |
3: 97,978,170 (GRCm39) |
|
probably null |
Het |
| Npy5r |
T |
A |
8: 67,134,392 (GRCm39) |
M134L |
probably benign |
Het |
| Ntsr2 |
T |
A |
12: 16,709,710 (GRCm39) |
M225K |
probably benign |
Het |
| Nup153 |
G |
A |
13: 46,847,527 (GRCm39) |
T634I |
probably damaging |
Het |
| Or51f1d |
T |
A |
7: 102,700,929 (GRCm39) |
Y141* |
probably null |
Het |
| Pcsk5 |
T |
C |
19: 17,416,448 (GRCm39) |
S1667G |
probably benign |
Het |
| Pex13 |
A |
G |
11: 23,599,527 (GRCm39) |
I328T |
possibly damaging |
Het |
| Pkd2 |
T |
G |
5: 104,624,909 (GRCm39) |
L235W |
probably damaging |
Het |
| Prune2 |
A |
T |
19: 17,156,292 (GRCm39) |
D66V |
probably damaging |
Het |
| Rasal3 |
T |
C |
17: 32,622,044 (GRCm39) |
N105S |
probably benign |
Het |
| Sla |
A |
T |
15: 66,658,939 (GRCm39) |
I144N |
probably damaging |
Het |
| Slc5a4b |
A |
T |
10: 75,898,220 (GRCm39) |
I498N |
possibly damaging |
Het |
| Snx14 |
C |
T |
9: 88,262,276 (GRCm39) |
E872K |
probably benign |
Het |
| Tg |
T |
C |
15: 66,567,984 (GRCm39) |
F1296S |
probably damaging |
Het |
| Tmem161b |
C |
A |
13: 84,370,537 (GRCm39) |
|
probably benign |
Het |
| Tmf1 |
G |
A |
6: 97,153,542 (GRCm39) |
T177M |
possibly damaging |
Het |
| Tuba4a |
T |
C |
1: 75,194,038 (GRCm39) |
Q14R |
probably damaging |
Het |
| Vmn2r114 |
T |
C |
17: 23,529,176 (GRCm39) |
M309V |
probably benign |
Het |
| Vps13c |
C |
T |
9: 67,817,504 (GRCm39) |
P1059S |
probably benign |
Het |
| Yars1 |
T |
A |
4: 129,103,544 (GRCm39) |
S298T |
possibly damaging |
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 |
|
R8151:Stx16
|
UTSW |
2 |
173,935,284 (GRCm39) |
missense |
possibly damaging |
0.70 |
|
R8675:Stx16
|
UTSW |
2 |
173,934,255 (GRCm39) |
missense |
probably benign |
0.04 |
|
R9468:Stx16
|
UTSW |
2 |
173,933,327 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- GCTTCCTGTCTGGGAAATAAGTTAC -3'
(R):5'- AGGGAATGACAGTAGCCCAC -3'
Sequencing Primer
(F):5'- GGGAAATAAGTTACCTGTTGCC -3'
(R):5'- TGACAGTAGCCCACATCACCTG -3'
|
| Posted On |
2019-04-17 |
Incidental Mutation