Incidental Mutation 'IGL01777:Snap47'
ID |
154136 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Snap47
|
Ensembl Gene |
ENSMUSG00000009894 |
Gene Name |
synaptosomal-associated protein, 47 |
Synonyms |
SNAP-47, 1110031B06Rik |
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
IGL01777
|
Quality Score |
|
Status
|
|
Chromosome |
11 |
Chromosomal Location |
59297967-59340868 bp(-) (GRCm39) |
Type of Mutation |
critical splice acceptor site |
DNA Base Change (assembly) |
T to A
at 59312477 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000010038
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000010038]
[ENSMUST00000120940]
|
AlphaFold |
Q8R570 |
Predicted Effect |
probably null
Transcript: ENSMUST00000010038
|
SMART Domains |
Protein: ENSMUSP00000010038 Gene: ENSMUSG00000009894
Domain | Start | End | E-Value | Type |
coiled coil region
|
125 |
173 |
N/A |
INTRINSIC |
SCOP:d1fpza_
|
181 |
234 |
3e-3 |
SMART |
low complexity region
|
335 |
349 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000120940
|
SMART Domains |
Protein: ENSMUSP00000113555 Gene: ENSMUSG00000009894
Domain | Start | End | E-Value | Type |
coiled coil region
|
125 |
173 |
N/A |
INTRINSIC |
SCOP:d1fpza_
|
181 |
234 |
3e-3 |
SMART |
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 29 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aadacl2 |
T |
C |
3: 59,932,205 (GRCm39) |
V240A |
possibly damaging |
Het |
Aftph |
A |
T |
11: 20,676,554 (GRCm39) |
C352S |
possibly damaging |
Het |
Cand2 |
T |
C |
6: 115,769,818 (GRCm39) |
V876A |
probably damaging |
Het |
Ccar1 |
T |
C |
10: 62,616,356 (GRCm39) |
I125V |
possibly damaging |
Het |
Celsr3 |
A |
T |
9: 108,713,141 (GRCm39) |
M1858L |
probably benign |
Het |
Csmd3 |
A |
T |
15: 47,561,594 (GRCm39) |
N2134K |
probably benign |
Het |
Dhx29 |
A |
G |
13: 113,067,406 (GRCm39) |
I96V |
probably benign |
Het |
Dst |
A |
G |
1: 34,238,478 (GRCm39) |
T3727A |
probably benign |
Het |
Elavl4 |
T |
A |
4: 110,063,858 (GRCm39) |
|
probably null |
Het |
Eno2 |
C |
T |
6: 124,743,600 (GRCm39) |
G113D |
probably damaging |
Het |
Esf1 |
A |
C |
2: 139,999,092 (GRCm39) |
|
probably null |
Het |
Frmd4b |
T |
C |
6: 97,272,905 (GRCm39) |
D783G |
probably benign |
Het |
Grin2a |
C |
T |
16: 9,461,994 (GRCm39) |
V713I |
probably benign |
Het |
Impa1 |
C |
T |
3: 10,388,008 (GRCm39) |
G138D |
probably damaging |
Het |
Kcnt2 |
A |
G |
1: 140,523,736 (GRCm39) |
T1079A |
probably benign |
Het |
Kmt2a |
A |
G |
9: 44,760,302 (GRCm39) |
S549P |
probably damaging |
Het |
Magoh |
C |
A |
4: 107,740,373 (GRCm39) |
Q86K |
probably benign |
Het |
Moxd1 |
C |
A |
10: 24,128,494 (GRCm39) |
T182K |
probably benign |
Het |
Or5p55 |
A |
G |
7: 107,566,709 (GRCm39) |
Y35C |
probably damaging |
Het |
Pramel25 |
T |
G |
4: 143,521,688 (GRCm39) |
C435G |
possibly damaging |
Het |
Rab3b |
A |
T |
4: 108,786,607 (GRCm39) |
Q119L |
probably damaging |
Het |
Taar3 |
A |
G |
10: 23,825,903 (GRCm39) |
R150G |
probably benign |
Het |
Tas2r102 |
C |
T |
6: 132,739,815 (GRCm39) |
T241I |
probably damaging |
Het |
Tas2r114 |
C |
T |
6: 131,666,664 (GRCm39) |
W121* |
probably null |
Het |
Trak1 |
G |
A |
9: 121,260,626 (GRCm39) |
|
probably null |
Het |
Ubn1 |
T |
C |
16: 4,890,013 (GRCm39) |
V426A |
possibly damaging |
Het |
Vmn1r40 |
T |
C |
6: 89,691,204 (GRCm39) |
L7P |
probably benign |
Het |
Vmn2r43 |
T |
C |
7: 8,258,272 (GRCm39) |
I314V |
probably damaging |
Het |
Vrtn |
T |
G |
12: 84,695,696 (GRCm39) |
S149A |
probably benign |
Het |
|
Other mutations in Snap47 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL02113:Snap47
|
APN |
11 |
59,319,262 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL03290:Snap47
|
APN |
11 |
59,319,424 (GRCm39) |
missense |
probably damaging |
1.00 |
R0126:Snap47
|
UTSW |
11 |
59,328,813 (GRCm39) |
missense |
probably damaging |
0.99 |
R0582:Snap47
|
UTSW |
11 |
59,319,259 (GRCm39) |
nonsense |
probably null |
|
R0633:Snap47
|
UTSW |
11 |
59,319,439 (GRCm39) |
missense |
probably benign |
0.25 |
R0883:Snap47
|
UTSW |
11 |
59,329,326 (GRCm39) |
utr 5 prime |
probably benign |
|
R1657:Snap47
|
UTSW |
11 |
59,319,596 (GRCm39) |
missense |
probably benign |
0.08 |
R1855:Snap47
|
UTSW |
11 |
59,319,159 (GRCm39) |
unclassified |
probably benign |
|
R2761:Snap47
|
UTSW |
11 |
59,328,885 (GRCm39) |
missense |
probably benign |
0.01 |
R4079:Snap47
|
UTSW |
11 |
59,319,377 (GRCm39) |
missense |
probably benign |
0.38 |
R4805:Snap47
|
UTSW |
11 |
59,319,343 (GRCm39) |
missense |
possibly damaging |
0.91 |
R4960:Snap47
|
UTSW |
11 |
59,319,369 (GRCm39) |
missense |
probably damaging |
1.00 |
R5212:Snap47
|
UTSW |
11 |
59,319,178 (GRCm39) |
missense |
probably damaging |
0.99 |
R5793:Snap47
|
UTSW |
11 |
59,329,018 (GRCm39) |
missense |
probably damaging |
1.00 |
R7243:Snap47
|
UTSW |
11 |
59,319,548 (GRCm39) |
missense |
probably benign |
0.04 |
R7603:Snap47
|
UTSW |
11 |
59,319,373 (GRCm39) |
missense |
probably damaging |
1.00 |
R7870:Snap47
|
UTSW |
11 |
59,328,904 (GRCm39) |
missense |
probably benign |
0.11 |
R8001:Snap47
|
UTSW |
11 |
59,329,180 (GRCm39) |
missense |
probably benign |
0.20 |
R9156:Snap47
|
UTSW |
11 |
59,319,290 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Posted On |
2014-02-04 |