Incidental Mutation 'IGL01736:Snph'
ID |
105684 |
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 # |
IGL01736
|
Quality Score |
|
Status
|
|
Chromosome |
2 |
Chromosomal Location |
151432469-151474513 bp(-) (GRCm39) |
Type of Mutation |
nonsense |
DNA Base Change (assembly) |
A to T
at 151436093 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Stop codon
at position 209
(Y209*)
|
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 null
Transcript: ENSMUST00000028951
AA Change: Y278*
|
SMART Domains |
Protein: ENSMUSP00000028951 Gene: ENSMUSG00000027457 AA Change: Y278*
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 null
Transcript: ENSMUST00000094456
AA Change: Y245*
|
SMART Domains |
Protein: ENSMUSP00000092026 Gene: ENSMUSG00000027457 AA Change: Y245*
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 null
Transcript: ENSMUST00000109875
AA Change: Y278*
|
SMART Domains |
Protein: ENSMUSP00000105501 Gene: ENSMUSG00000027457 AA Change: Y278*
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 null
Transcript: ENSMUST00000109877
AA Change: Y209*
|
SMART Domains |
Protein: ENSMUSP00000105503 Gene: ENSMUSG00000027457 AA Change: Y209*
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: 42 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acacb |
A |
G |
5: 114,326,503 (GRCm39) |
T290A |
possibly damaging |
Het |
Apip |
G |
A |
2: 102,917,486 (GRCm39) |
V62M |
probably damaging |
Het |
Appbp2 |
T |
C |
11: 85,105,143 (GRCm39) |
K141R |
possibly damaging |
Het |
Arhgef18 |
T |
A |
8: 3,501,624 (GRCm39) |
|
probably benign |
Het |
B3galt2 |
A |
G |
1: 143,522,583 (GRCm39) |
T240A |
probably benign |
Het |
Bivm |
A |
T |
1: 44,180,973 (GRCm39) |
N385I |
probably damaging |
Het |
Brd4 |
A |
T |
17: 32,417,649 (GRCm39) |
|
probably benign |
Het |
Cage1 |
T |
C |
13: 38,206,789 (GRCm39) |
D352G |
possibly damaging |
Het |
Ceacam10 |
A |
G |
7: 24,480,535 (GRCm39) |
Y102C |
probably damaging |
Het |
Diaph3 |
T |
C |
14: 87,156,282 (GRCm39) |
D677G |
probably benign |
Het |
Dis3l |
T |
C |
9: 64,226,536 (GRCm39) |
|
probably null |
Het |
Dnah6 |
C |
T |
6: 73,165,360 (GRCm39) |
V582M |
probably benign |
Het |
Fndc3b |
A |
G |
3: 27,521,552 (GRCm39) |
L541P |
probably damaging |
Het |
Folh1 |
T |
C |
7: 86,391,444 (GRCm39) |
T384A |
possibly damaging |
Het |
Gdpd3 |
T |
C |
7: 126,365,695 (GRCm39) |
L18P |
probably damaging |
Het |
Grxcr2 |
T |
A |
18: 42,132,047 (GRCm39) |
K7N |
probably damaging |
Het |
Gulo |
A |
G |
14: 66,234,325 (GRCm39) |
F246L |
probably benign |
Het |
Inpp4b |
A |
T |
8: 82,723,968 (GRCm39) |
D500V |
probably benign |
Het |
Ints4 |
C |
T |
7: 97,175,849 (GRCm39) |
L647F |
probably benign |
Het |
Kif17 |
T |
A |
4: 138,013,876 (GRCm39) |
L264Q |
possibly damaging |
Het |
Kif21a |
T |
C |
15: 90,843,948 (GRCm39) |
N1104S |
possibly damaging |
Het |
Ly6e |
T |
G |
15: 74,830,546 (GRCm39) |
L132R |
probably benign |
Het |
Mis18bp1 |
T |
A |
12: 65,185,452 (GRCm39) |
H905L |
probably damaging |
Het |
Nr2f2 |
A |
G |
7: 70,004,446 (GRCm39) |
S269P |
probably damaging |
Het |
Or2b2b |
C |
A |
13: 21,858,787 (GRCm39) |
C109F |
probably benign |
Het |
Or2o1 |
G |
A |
11: 49,051,354 (GRCm39) |
C171Y |
probably damaging |
Het |
Or5d46 |
T |
A |
2: 88,170,771 (GRCm39) |
N287K |
probably damaging |
Het |
Pde8b |
T |
C |
13: 95,166,910 (GRCm39) |
I757V |
probably damaging |
Het |
Psg23 |
A |
T |
7: 18,346,122 (GRCm39) |
I191N |
possibly damaging |
Het |
Slc12a4 |
A |
T |
8: 106,672,475 (GRCm39) |
|
probably null |
Het |
Tnfaip3 |
T |
C |
10: 18,882,649 (GRCm39) |
H256R |
probably damaging |
Het |
Tnip3 |
T |
A |
6: 65,573,107 (GRCm39) |
|
probably benign |
Het |
Ttc3 |
T |
A |
16: 94,243,386 (GRCm39) |
F1130Y |
probably damaging |
Het |
Twnk |
T |
G |
19: 44,998,627 (GRCm39) |
V515G |
probably damaging |
Het |
Usp24 |
T |
A |
4: 106,280,658 (GRCm39) |
I2324K |
probably benign |
Het |
Vwa7 |
T |
C |
17: 35,238,827 (GRCm39) |
F305S |
probably damaging |
Het |
Ythdc2 |
A |
T |
18: 44,983,735 (GRCm39) |
Q567L |
probably damaging |
Het |
Zbtb11 |
T |
A |
16: 55,818,523 (GRCm39) |
I649K |
probably damaging |
Het |
Zbtb49 |
T |
C |
5: 38,358,204 (GRCm39) |
Y683C |
probably damaging |
Het |
Zfhx4 |
A |
T |
3: 5,309,152 (GRCm39) |
M793L |
possibly damaging |
Het |
Zmym6 |
T |
G |
4: 127,002,437 (GRCm39) |
I556R |
probably damaging |
Het |
Zswim8 |
C |
T |
14: 20,764,780 (GRCm39) |
P717S |
probably benign |
Het |
|
Other mutations in Snph |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
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 |
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 |
2014-01-21 |