Incidental Mutation 'IGL02029:Snph'
| ID |
184295 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Snph
|
| Ensembl Gene |
ENSMUSG00000027457 |
| Gene Name |
syntaphilin |
| Synonyms |
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL02029
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
2 |
| Chromosomal Location |
151432469-151474513 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 151435527 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 434
(V434A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000092026
(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 damaging
Transcript: ENSMUST00000028951
AA Change: V467A
PolyPhen 2
Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000028951
Gene: ENSMUSG00000027457
AA Change: V467A
| 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 damaging
Transcript: ENSMUST00000094456
AA Change: V434A
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000092026
Gene: ENSMUSG00000027457
AA Change: V434A
| 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 damaging
Transcript: ENSMUST00000109875
AA Change: V467A
PolyPhen 2
Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000105501
Gene: ENSMUSG00000027457
AA Change: V467A
| 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 |
possibly damaging
Transcript: ENSMUST00000109877
AA Change: V398A
PolyPhen 2
Score 0.505 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000105503
Gene: ENSMUSG00000027457
AA Change: V398A
| 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 |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| 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: 32 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Agap2 |
T |
C |
10: 126,916,152 (GRCm39) |
V221A |
unknown |
Het |
| Akr1c13 |
T |
A |
13: 4,255,361 (GRCm39) |
Y317* |
probably null |
Het |
| Bicd2 |
T |
A |
13: 49,522,975 (GRCm39) |
I30N |
probably damaging |
Het |
| Cadm2 |
G |
T |
16: 66,544,182 (GRCm39) |
N291K |
probably damaging |
Het |
| Ccdc61 |
C |
T |
7: 18,637,423 (GRCm39) |
C68Y |
probably damaging |
Het |
| Ccnl2 |
A |
G |
4: 155,906,319 (GRCm39) |
S351G |
probably benign |
Het |
| Cdcp1 |
A |
G |
9: 123,012,899 (GRCm39) |
|
probably benign |
Het |
| Clhc1 |
T |
C |
11: 29,510,798 (GRCm39) |
S256P |
probably benign |
Het |
| Fam83h |
T |
C |
15: 75,878,287 (GRCm39) |
E37G |
probably damaging |
Het |
| Fancd2 |
C |
T |
6: 113,547,936 (GRCm39) |
L938F |
probably benign |
Het |
| Fbn2 |
G |
T |
18: 58,342,675 (GRCm39) |
A68E |
probably benign |
Het |
| Fcrl1 |
T |
A |
3: 87,283,794 (GRCm39) |
|
probably benign |
Het |
| Ganc |
A |
G |
2: 120,290,338 (GRCm39) |
T892A |
probably benign |
Het |
| Gramd1a |
C |
T |
7: 30,832,249 (GRCm39) |
R596H |
possibly damaging |
Het |
| Limk1 |
A |
T |
5: 134,686,808 (GRCm39) |
Y518* |
probably null |
Het |
| Map1a |
A |
G |
2: 121,133,779 (GRCm39) |
T1294A |
possibly damaging |
Het |
| Marchf3 |
G |
A |
18: 56,940,753 (GRCm39) |
P126S |
probably benign |
Het |
| Ntn5 |
A |
G |
7: 45,336,015 (GRCm39) |
I149V |
probably benign |
Het |
| Nup43 |
T |
C |
10: 7,543,347 (GRCm39) |
F8L |
possibly damaging |
Het |
| Or5b122 |
A |
T |
19: 13,563,468 (GRCm39) |
M267L |
probably benign |
Het |
| Or5be3 |
A |
G |
2: 86,864,245 (GRCm39) |
F107L |
probably benign |
Het |
| P2rx6 |
C |
T |
16: 17,385,959 (GRCm39) |
S236F |
probably benign |
Het |
| Peg10 |
G |
T |
6: 4,754,473 (GRCm39) |
|
probably benign |
Het |
| Runx2 |
T |
A |
17: 44,969,574 (GRCm39) |
R238* |
probably null |
Het |
| Serpinb9d |
A |
T |
13: 33,380,512 (GRCm39) |
I133L |
possibly damaging |
Het |
| Trp53rkb |
C |
A |
2: 166,637,314 (GRCm39) |
P90Q |
probably damaging |
Het |
| Ttn |
C |
A |
2: 76,580,148 (GRCm39) |
E21836* |
probably null |
Het |
| Tut7 |
A |
G |
13: 59,932,702 (GRCm39) |
|
probably benign |
Het |
| Ube3c |
T |
A |
5: 29,824,326 (GRCm39) |
F507I |
probably damaging |
Het |
| Ugt1a6a |
T |
C |
1: 88,066,403 (GRCm39) |
S70P |
probably benign |
Het |
| Zfp354b |
C |
T |
11: 50,814,664 (GRCm39) |
C87Y |
probably benign |
Het |
| Zfp462 |
G |
T |
4: 55,079,395 (GRCm39) |
|
probably benign |
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 |
|
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 |
|
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 |
|
| Posted On |
2014-05-07 |
Incidental Mutation