Incidental Mutation 'R3753:Snph'
| ID |
271295 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Snph
|
| Ensembl Gene |
ENSMUSG00000027457 |
| Gene Name |
syntaphilin |
| Synonyms |
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R3753 (G1)
|
| Quality Score |
174 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
151432469-151474513 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 151435374 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Proline to Leucine
at position 449
(P449L)
|
| 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: P518L
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000028951
Gene: ENSMUSG00000027457
AA Change: P518L
| 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: P485L
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000092026
Gene: ENSMUSG00000027457
AA Change: P485L
| 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: P518L
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000105501
Gene: ENSMUSG00000027457
AA Change: P518L
| 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: P449L
PolyPhen 2
Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
|
| SMART Domains |
Protein: ENSMUSP00000105503
Gene: ENSMUSG00000027457
AA Change: P449L
| 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 |
0.0759 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.1%
- 20x: 94.5%
|
| Validation Efficiency |
98% (49/50) |
| 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: 44 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700001J03Rik |
A |
T |
5: 146,121,677 (GRCm39) |
I74N |
probably damaging |
Het |
| Acp7 |
T |
A |
7: 28,316,085 (GRCm39) |
Y167F |
probably damaging |
Het |
| Acsl1 |
A |
T |
8: 46,966,602 (GRCm39) |
|
probably benign |
Het |
| Bcr |
T |
C |
10: 74,971,772 (GRCm39) |
V599A |
probably benign |
Het |
| Brd1 |
C |
T |
15: 88,573,821 (GRCm39) |
V1093I |
possibly damaging |
Het |
| Cep152 |
A |
G |
2: 125,466,972 (GRCm39) |
|
probably benign |
Het |
| Cstf2t |
T |
G |
19: 31,060,695 (GRCm39) |
L77R |
probably damaging |
Het |
| Drd3 |
C |
T |
16: 43,637,466 (GRCm39) |
R254W |
probably damaging |
Het |
| E2f1 |
C |
G |
2: 154,405,942 (GRCm39) |
G144R |
probably damaging |
Het |
| Fam187a |
C |
T |
11: 102,776,675 (GRCm39) |
P160S |
probably benign |
Het |
| Fat1 |
G |
A |
8: 45,478,516 (GRCm39) |
E2521K |
probably damaging |
Het |
| Fbln1 |
T |
A |
15: 85,111,279 (GRCm39) |
C144* |
probably null |
Het |
| Flii |
T |
C |
11: 60,606,306 (GRCm39) |
D1128G |
probably benign |
Het |
| Gask1a |
A |
T |
9: 121,794,899 (GRCm39) |
D351V |
probably damaging |
Het |
| Gata3 |
T |
A |
2: 9,873,651 (GRCm39) |
H281L |
probably benign |
Het |
| Iqsec3 |
C |
T |
6: 121,353,214 (GRCm39) |
A1135T |
probably benign |
Het |
| Irak4 |
T |
C |
15: 94,459,476 (GRCm39) |
I364T |
probably damaging |
Het |
| Mib2 |
A |
G |
4: 155,739,741 (GRCm39) |
F810S |
probably damaging |
Het |
| Nbn |
G |
A |
4: 15,964,269 (GRCm39) |
V115I |
probably damaging |
Het |
| Nfyc |
G |
T |
4: 120,622,527 (GRCm39) |
|
probably benign |
Het |
| Nup210 |
A |
T |
6: 90,998,377 (GRCm39) |
|
probably null |
Het |
| Or2g1 |
T |
C |
17: 38,107,123 (GRCm39) |
S263P |
possibly damaging |
Het |
| Or2t48 |
C |
T |
11: 58,420,516 (GRCm39) |
A99T |
probably benign |
Het |
| Or8j3b |
C |
T |
2: 86,205,259 (GRCm39) |
V166I |
possibly damaging |
Het |
| Paqr8 |
A |
G |
1: 21,005,856 (GRCm39) |
T337A |
probably benign |
Het |
| Plce1 |
T |
C |
19: 38,640,278 (GRCm39) |
V508A |
probably benign |
Het |
| Prmt2 |
G |
T |
10: 76,061,137 (GRCm39) |
D116E |
probably benign |
Het |
| Prss51 |
T |
A |
14: 64,333,624 (GRCm39) |
|
probably benign |
Het |
| Prune2 |
T |
A |
19: 17,102,818 (GRCm39) |
V2659D |
probably benign |
Het |
| Ptpn3 |
C |
T |
4: 57,270,144 (GRCm39) |
R6H |
probably damaging |
Het |
| Ramac |
C |
T |
7: 81,417,395 (GRCm39) |
R32C |
probably damaging |
Het |
| Rdh12 |
C |
T |
12: 79,260,446 (GRCm39) |
R181* |
probably null |
Het |
| Rsf1 |
T |
A |
7: 97,311,359 (GRCm39) |
D696E |
probably benign |
Het |
| Sh3rf2 |
C |
T |
18: 42,244,373 (GRCm39) |
R280C |
probably damaging |
Het |
| Slco6d1 |
T |
A |
1: 98,427,502 (GRCm39) |
I611K |
probably damaging |
Het |
| Spg7 |
G |
C |
8: 123,814,112 (GRCm39) |
R457P |
probably damaging |
Het |
| Swap70 |
T |
A |
7: 109,867,088 (GRCm39) |
W297R |
probably damaging |
Het |
| Tcaf3 |
T |
A |
6: 42,566,738 (GRCm39) |
I784F |
probably damaging |
Het |
| Tcstv2c |
A |
T |
13: 120,616,167 (GRCm39) |
D2V |
possibly damaging |
Het |
| Tox2 |
T |
A |
2: 163,156,243 (GRCm39) |
I138N |
probably damaging |
Het |
| Trim54 |
A |
C |
5: 31,291,488 (GRCm39) |
E203A |
probably damaging |
Het |
| Vmn2r19 |
A |
T |
6: 123,292,548 (GRCm39) |
T197S |
possibly damaging |
Het |
| Vmn2r28 |
T |
A |
7: 5,491,026 (GRCm39) |
H407L |
probably damaging |
Het |
| Wdr19 |
G |
A |
5: 65,382,069 (GRCm39) |
V430M |
probably 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 |
|
|
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 |
|
R4461:Snph
|
UTSW |
2 |
151,435,767 (GRCm39) |
missense |
probably benign |
0.00 |
|
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'- TCTGAATCCCTGACACTATTGAC -3'
(R):5'- GGAACCCAAGAGTTACTGGAGC -3'
Sequencing Primer
(F):5'- CCTGACACTATTGACATCTTGGG -3'
(R):5'- AGTTACTGGAGCCGCCACTAC -3'
|
| Posted On |
2015-03-18 |
Incidental Mutation