Incidental Mutation 'R4461:Snph'
ID |
330132 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Snph
|
Ensembl Gene |
ENSMUSG00000027457 |
Gene Name |
syntaphilin |
Synonyms |
|
MMRRC Submission |
041720-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R4461 (G1)
|
Quality Score |
196 |
Status
|
Validated
|
Chromosome |
2 |
Chromosomal Location |
151432469-151474513 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 151435767 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Leucine
at position 318
(S318L)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000105503
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000028950]
[ENSMUST00000028951]
[ENSMUST00000094456]
[ENSMUST00000109875]
[ENSMUST00000109877]
[ENSMUST00000137936]
|
AlphaFold |
Q80U23 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000028950
|
SMART Domains |
Protein: ENSMUSP00000028950 Gene: ENSMUSG00000027456
Domain | Start | End | E-Value | Type |
low complexity region
|
23 |
40 |
N/A |
INTRINSIC |
PDZ
|
117 |
188 |
2.13e-9 |
SMART |
PDZ
|
201 |
267 |
1.99e-9 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000028951
AA Change: S387L
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000028951 Gene: ENSMUSG00000027457 AA Change: S387L
Domain | Start | End | E-Value | Type |
low complexity region
|
4 |
27 |
N/A |
INTRINSIC |
Pfam:Syntaphilin
|
50 |
367 |
9.3e-141 |
PFAM |
low complexity region
|
436 |
449 |
N/A |
INTRINSIC |
low complexity region
|
466 |
476 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000094456
AA Change: S354L
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000092026 Gene: ENSMUSG00000027457 AA Change: S354L
Domain | Start | End | E-Value | Type |
Pfam:Syntaphilin
|
17 |
334 |
7.7e-141 |
PFAM |
low complexity region
|
403 |
416 |
N/A |
INTRINSIC |
low complexity region
|
433 |
443 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000109875
AA Change: S387L
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000105501 Gene: ENSMUSG00000027457 AA Change: S387L
Domain | Start | End | E-Value | Type |
low complexity region
|
4 |
27 |
N/A |
INTRINSIC |
Pfam:Syntaphilin
|
51 |
366 |
1.7e-145 |
PFAM |
low complexity region
|
436 |
449 |
N/A |
INTRINSIC |
low complexity region
|
466 |
476 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000109877
AA Change: S318L
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000105503 Gene: ENSMUSG00000027457 AA Change: S318L
Domain | Start | End | E-Value | Type |
Pfam:Syntaphilin
|
2 |
298 |
3.2e-125 |
PFAM |
low complexity region
|
367 |
380 |
N/A |
INTRINSIC |
low complexity region
|
397 |
407 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000137936
|
SMART Domains |
Protein: ENSMUSP00000123255 Gene: ENSMUSG00000027457
Domain | Start | End | E-Value | Type |
Pfam:Syntaphilin
|
17 |
87 |
4.6e-39 |
PFAM |
|
Meta Mutation Damage Score |
0.0782 |
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.1%
- 20x: 94.9%
|
Validation Efficiency |
100% (50/50) |
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Syntaxin-1, synaptobrevin/VAMP, and SNAP25 interact to form the SNARE complex, which is required for synaptic vesicle docking and fusion. The protein encoded by this gene is membrane-associated and inhibits SNARE complex formation by binding free syntaxin-1. Expression of this gene appears to be brain-specific. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Dec 2015] PHENOTYPE: Mice with disruptions in this gene are viable, fertile, and morphologically normal. However, they do display subtile deficiencies in coordination. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 45 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Ankrd12 |
T |
C |
17: 66,292,932 (GRCm39) |
|
probably null |
Het |
Apex1 |
T |
C |
14: 51,163,970 (GRCm39) |
V165A |
probably damaging |
Het |
Btbd17 |
C |
T |
11: 114,684,815 (GRCm39) |
D75N |
possibly damaging |
Het |
Chd2 |
T |
C |
7: 73,190,622 (GRCm39) |
|
probably benign |
Het |
Coq10a |
T |
C |
10: 128,200,347 (GRCm39) |
N138S |
possibly damaging |
Het |
Ctbp1 |
A |
T |
5: 33,408,357 (GRCm39) |
Y192N |
probably damaging |
Het |
Cx3cl1 |
A |
G |
8: 95,507,184 (GRCm39) |
*396W |
probably null |
Het |
D6Ertd527e |
T |
C |
6: 87,088,299 (GRCm39) |
I154T |
unknown |
Het |
Dao |
T |
A |
5: 114,157,987 (GRCm39) |
V203E |
probably damaging |
Het |
Egr4 |
G |
A |
6: 85,489,322 (GRCm39) |
A246V |
probably damaging |
Het |
Gpsm1 |
G |
A |
2: 26,209,843 (GRCm39) |
|
probably benign |
Het |
H2-Eb2 |
T |
A |
17: 34,552,497 (GRCm39) |
V114E |
possibly damaging |
Het |
Hpgds |
A |
G |
6: 65,100,618 (GRCm39) |
L120P |
probably damaging |
Het |
Ikbke |
C |
T |
1: 131,193,659 (GRCm39) |
V464I |
probably benign |
Het |
Kank2 |
G |
A |
9: 21,706,041 (GRCm39) |
Q326* |
probably null |
Het |
Klhl26 |
T |
C |
8: 70,904,194 (GRCm39) |
Y538C |
probably damaging |
Het |
Klkb1 |
A |
G |
8: 45,726,612 (GRCm39) |
S464P |
probably damaging |
Het |
Kmt2a |
A |
G |
9: 44,760,263 (GRCm39) |
Y529H |
probably damaging |
Het |
Kmt2c |
A |
G |
5: 25,504,874 (GRCm39) |
V3478A |
probably benign |
Het |
Knl1 |
A |
C |
2: 118,890,080 (GRCm39) |
N44T |
probably benign |
Het |
Letm2 |
A |
G |
8: 26,076,715 (GRCm39) |
C296R |
probably damaging |
Het |
Lrrc37a |
A |
G |
11: 103,355,180 (GRCm39) |
|
probably null |
Het |
Med20 |
T |
C |
17: 47,929,842 (GRCm39) |
V93A |
probably benign |
Het |
Mtmr11 |
T |
C |
3: 96,075,207 (GRCm39) |
|
probably benign |
Het |
Muc1 |
A |
T |
3: 89,138,870 (GRCm39) |
D493V |
probably damaging |
Het |
Nek2 |
C |
T |
1: 191,554,827 (GRCm39) |
P180S |
probably damaging |
Het |
Nin |
A |
T |
12: 70,089,359 (GRCm39) |
M1352K |
probably benign |
Het |
Or5aq1 |
T |
C |
2: 86,966,005 (GRCm39) |
H220R |
probably benign |
Het |
P3h3 |
A |
T |
6: 124,822,531 (GRCm39) |
S547T |
probably benign |
Het |
Pik3c2g |
C |
T |
6: 139,787,407 (GRCm39) |
|
probably benign |
Het |
Pkd1l3 |
A |
G |
8: 110,359,345 (GRCm39) |
|
probably null |
Het |
Pzp |
T |
C |
6: 128,501,003 (GRCm39) |
I118M |
probably benign |
Het |
Rps6ka5 |
C |
A |
12: 100,537,123 (GRCm39) |
D536Y |
probably damaging |
Het |
Rps6-ps2 |
A |
G |
8: 89,533,319 (GRCm39) |
|
noncoding transcript |
Het |
Siglece |
T |
C |
7: 43,300,929 (GRCm39) |
Q462R |
probably benign |
Het |
Sirt3 |
T |
C |
7: 140,444,913 (GRCm39) |
D295G |
possibly damaging |
Het |
Snx18 |
T |
C |
13: 113,753,731 (GRCm39) |
T401A |
probably damaging |
Het |
Tefm |
A |
G |
11: 80,028,875 (GRCm39) |
|
probably null |
Het |
Thada |
T |
C |
17: 84,733,665 (GRCm39) |
Y994C |
probably damaging |
Het |
Trmt1 |
A |
G |
8: 85,425,778 (GRCm39) |
N531D |
probably benign |
Het |
Ttc17 |
A |
G |
2: 94,196,916 (GRCm39) |
V477A |
probably benign |
Het |
Ubxn10 |
T |
A |
4: 138,448,187 (GRCm39) |
Q163L |
probably benign |
Het |
Ulk4 |
A |
T |
9: 120,985,950 (GRCm39) |
I908N |
possibly damaging |
Het |
Zfp747l1 |
A |
G |
7: 126,983,917 (GRCm39) |
L395P |
probably damaging |
Het |
Zscan12 |
C |
T |
13: 21,550,789 (GRCm39) |
S136L |
possibly damaging |
Het |
|
Other mutations in Snph |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01736:Snph
|
APN |
2 |
151,436,093 (GRCm39) |
nonsense |
probably null |
|
IGL02017:Snph
|
APN |
2 |
151,442,902 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02029:Snph
|
APN |
2 |
151,435,527 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02186:Snph
|
APN |
2 |
151,436,263 (GRCm39) |
missense |
possibly damaging |
0.67 |
R0621:Snph
|
UTSW |
2 |
151,435,642 (GRCm39) |
missense |
probably damaging |
1.00 |
R1311:Snph
|
UTSW |
2 |
151,439,122 (GRCm39) |
missense |
probably damaging |
1.00 |
R1660:Snph
|
UTSW |
2 |
151,436,398 (GRCm39) |
nonsense |
probably null |
|
R3753:Snph
|
UTSW |
2 |
151,435,374 (GRCm39) |
missense |
probably benign |
0.00 |
R3923:Snph
|
UTSW |
2 |
151,435,431 (GRCm39) |
missense |
probably damaging |
1.00 |
R4081:Snph
|
UTSW |
2 |
151,435,722 (GRCm39) |
missense |
probably damaging |
1.00 |
R4082:Snph
|
UTSW |
2 |
151,435,722 (GRCm39) |
missense |
probably damaging |
1.00 |
R4462:Snph
|
UTSW |
2 |
151,436,035 (GRCm39) |
missense |
probably damaging |
1.00 |
R4463:Snph
|
UTSW |
2 |
151,436,035 (GRCm39) |
missense |
probably damaging |
1.00 |
R4619:Snph
|
UTSW |
2 |
151,436,434 (GRCm39) |
nonsense |
probably null |
|
R5042:Snph
|
UTSW |
2 |
151,442,977 (GRCm39) |
missense |
possibly damaging |
0.66 |
R5180:Snph
|
UTSW |
2 |
151,442,307 (GRCm39) |
missense |
probably benign |
0.05 |
R5184:Snph
|
UTSW |
2 |
151,436,464 (GRCm39) |
missense |
probably damaging |
1.00 |
R5925:Snph
|
UTSW |
2 |
151,436,151 (GRCm39) |
missense |
probably damaging |
1.00 |
R7169:Snph
|
UTSW |
2 |
151,436,307 (GRCm39) |
missense |
probably damaging |
1.00 |
R7243:Snph
|
UTSW |
2 |
151,436,173 (GRCm39) |
missense |
probably damaging |
0.99 |
R7417:Snph
|
UTSW |
2 |
151,442,263 (GRCm39) |
missense |
probably damaging |
1.00 |
R7607:Snph
|
UTSW |
2 |
151,436,506 (GRCm39) |
missense |
probably damaging |
1.00 |
R8517:Snph
|
UTSW |
2 |
151,435,641 (GRCm39) |
missense |
probably damaging |
0.99 |
R9325:Snph
|
UTSW |
2 |
151,436,208 (GRCm39) |
missense |
probably damaging |
0.99 |
R9617:Snph
|
UTSW |
2 |
151,435,422 (GRCm39) |
missense |
probably damaging |
1.00 |
R9671:Snph
|
UTSW |
2 |
151,436,331 (GRCm39) |
missense |
probably damaging |
1.00 |
X0024:Snph
|
UTSW |
2 |
151,436,124 (GRCm39) |
missense |
probably benign |
0.37 |
Z1177:Snph
|
UTSW |
2 |
151,435,554 (GRCm39) |
missense |
possibly damaging |
0.47 |
|
Predicted Primers |
PCR Primer
(F):5'- CAGTAACTCTTGGGTTCCTTTTCGG -3'
(R):5'- GCAACACCTACGAGAAGCTG -3'
Sequencing Primer
(F):5'- TCGGTGGTGGTGGCAGC -3'
(R):5'- ACACCTACGAGAAGCTGCTGTG -3'
|
Posted On |
2015-07-21 |