Incidental Mutation 'R4081:Snph'
ID |
316865 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Snph
|
Ensembl Gene |
ENSMUSG00000027457 |
Gene Name |
syntaphilin |
Synonyms |
|
MMRRC Submission |
040977-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R4081 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
2 |
Chromosomal Location |
151432469-151474513 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 151435722 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glycine
at position 402
(D402G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000105501
(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: D402G
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000028951 Gene: ENSMUSG00000027457 AA Change: D402G
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: D369G
PolyPhen 2
Score 0.338 (Sensitivity: 0.90; Specificity: 0.89)
|
SMART Domains |
Protein: ENSMUSP00000092026 Gene: ENSMUSG00000027457 AA Change: D369G
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: D402G
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000105501 Gene: ENSMUSG00000027457 AA Change: D402G
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: D333G
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000105503 Gene: ENSMUSG00000027457 AA Change: D333G
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 |
0.0685 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 96.0%
|
Validation Efficiency |
98% (58/59) |
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: 51 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aass |
A |
T |
6: 23,109,497 (GRCm39) |
D324E |
possibly damaging |
Het |
Adad1 |
A |
G |
3: 37,118,512 (GRCm39) |
|
probably null |
Het |
Aim2 |
T |
C |
1: 173,287,417 (GRCm39) |
|
probably null |
Het |
Arhgef1 |
G |
T |
7: 24,625,271 (GRCm39) |
D850Y |
probably damaging |
Het |
Ccnf |
T |
C |
17: 24,442,872 (GRCm39) |
*778W |
probably null |
Het |
Cd53 |
T |
C |
3: 106,669,461 (GRCm39) |
H179R |
probably benign |
Het |
Cit |
G |
T |
5: 116,086,109 (GRCm39) |
R891L |
probably damaging |
Het |
Clec4b1 |
T |
C |
6: 123,046,733 (GRCm39) |
|
probably null |
Het |
Cntrl |
C |
A |
2: 35,051,938 (GRCm39) |
|
probably benign |
Het |
Cntrl |
A |
G |
2: 35,065,137 (GRCm39) |
D2148G |
probably damaging |
Het |
Cpa5 |
T |
C |
6: 30,631,228 (GRCm39) |
S381P |
probably benign |
Het |
Crybg1 |
A |
T |
10: 43,851,035 (GRCm39) |
V1612D |
probably damaging |
Het |
Cwc25 |
G |
T |
11: 97,644,744 (GRCm39) |
Q205K |
probably benign |
Het |
Cyp2d11 |
A |
T |
15: 82,276,002 (GRCm39) |
I193N |
possibly damaging |
Het |
Gdi2 |
T |
A |
13: 3,598,866 (GRCm39) |
C17S |
probably benign |
Het |
Gm5436 |
T |
A |
12: 84,305,489 (GRCm39) |
|
noncoding transcript |
Het |
Ifit1bl1 |
T |
C |
19: 34,572,040 (GRCm39) |
Y139C |
possibly damaging |
Het |
Insr |
A |
T |
8: 3,261,391 (GRCm39) |
M321K |
probably benign |
Het |
Ippk |
T |
A |
13: 49,599,852 (GRCm39) |
L237Q |
probably damaging |
Het |
Itpr1 |
T |
A |
6: 108,368,796 (GRCm39) |
I149N |
probably damaging |
Het |
Kcnh8 |
GAGACCAACGAGCAGCTGATGCTTCAGA |
GAGA |
17: 53,032,934 (GRCm39) |
74 |
probably benign |
Het |
Klk14 |
G |
A |
7: 43,341,501 (GRCm39) |
C51Y |
probably damaging |
Het |
Lrp2 |
T |
A |
2: 69,343,617 (GRCm39) |
H914L |
probably damaging |
Het |
Myd88 |
G |
T |
9: 119,169,053 (GRCm39) |
|
probably benign |
Het |
Myh2 |
T |
C |
11: 67,081,256 (GRCm39) |
S1291P |
probably benign |
Het |
Mylk3 |
G |
A |
8: 86,055,311 (GRCm39) |
L549F |
probably damaging |
Het |
Otog |
T |
C |
7: 45,937,723 (GRCm39) |
S1811P |
possibly damaging |
Het |
Phrf1 |
T |
C |
7: 140,838,970 (GRCm39) |
|
probably benign |
Het |
Plod3 |
G |
C |
5: 137,017,000 (GRCm39) |
A50P |
probably benign |
Het |
Prorp |
G |
T |
12: 55,351,398 (GRCm39) |
V236F |
possibly damaging |
Het |
Ptprh |
T |
A |
7: 4,583,987 (GRCm39) |
T202S |
probably damaging |
Het |
Ptprr |
A |
T |
10: 116,072,615 (GRCm39) |
K329N |
probably benign |
Het |
Rgl3 |
T |
A |
9: 21,898,971 (GRCm39) |
H156L |
possibly damaging |
Het |
Sema6b |
A |
G |
17: 56,435,307 (GRCm39) |
V312A |
probably damaging |
Het |
Sez6l |
T |
C |
5: 112,609,032 (GRCm39) |
I606V |
probably benign |
Het |
Slco1a1 |
T |
C |
6: 141,881,688 (GRCm39) |
E148G |
probably damaging |
Het |
Sohlh1 |
A |
G |
2: 25,735,734 (GRCm39) |
V135A |
probably benign |
Het |
Sox14 |
T |
C |
9: 99,757,277 (GRCm39) |
E154G |
possibly damaging |
Het |
Spta1 |
A |
G |
1: 174,041,632 (GRCm39) |
D1334G |
probably benign |
Het |
Stard13 |
C |
A |
5: 151,016,294 (GRCm39) |
|
probably null |
Het |
Szt2 |
A |
G |
4: 118,230,764 (GRCm39) |
|
probably benign |
Het |
Tab2 |
G |
A |
10: 7,795,595 (GRCm39) |
P296S |
probably damaging |
Het |
Tbx15 |
A |
G |
3: 99,220,370 (GRCm39) |
D48G |
possibly damaging |
Het |
Tex10 |
T |
C |
4: 48,468,873 (GRCm39) |
S101G |
probably benign |
Het |
Tex11 |
C |
A |
X: 99,977,021 (GRCm39) |
A487S |
possibly damaging |
Het |
Tulp4 |
C |
T |
17: 6,282,055 (GRCm39) |
H695Y |
probably damaging |
Het |
Vmn1r66 |
A |
G |
7: 10,008,733 (GRCm39) |
I100T |
probably damaging |
Het |
Vmn2r106 |
A |
T |
17: 20,487,818 (GRCm39) |
Y860* |
probably null |
Het |
Vwa3b |
C |
T |
1: 37,074,905 (GRCm39) |
T24I |
probably damaging |
Het |
Zfp541 |
G |
A |
7: 15,806,060 (GRCm39) |
S65N |
probably benign |
Het |
Zfp992 |
C |
T |
4: 146,551,976 (GRCm39) |
H566Y |
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 |
|
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 |
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'- AGCAGATCCACGATGTAGTG -3'
(R):5'- GCAACACCTACGAGAAGCTG -3'
Sequencing Primer
(F):5'- TGGCGGCTCCAGTAACTCTTG -3'
(R):5'- ACACCTACGAGAAGCTGCTGTG -3'
|
Posted On |
2015-05-15 |