Incidental Mutation 'IGL03141:Snapc3'
ID |
410691 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Snapc3
|
Ensembl Gene |
ENSMUSG00000028483 |
Gene Name |
small nuclear RNA activating complex, polypeptide 3 |
Synonyms |
4930558A07Rik, E030018J20Rik, 5031401C21Rik, 1810020H02Rik |
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.971)
|
Stock # |
IGL03141
|
Quality Score |
|
Status
|
|
Chromosome |
4 |
Chromosomal Location |
83335961-83385913 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 83353523 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Methionine
at position 187
(I187M)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000102842
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000030206]
[ENSMUST00000071544]
[ENSMUST00000123262]
[ENSMUST00000124856]
[ENSMUST00000137512]
[ENSMUST00000143533]
|
AlphaFold |
Q9D2C9 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000030206
AA Change: I187M
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000030206 Gene: ENSMUSG00000028483 AA Change: I187M
Domain | Start | End | E-Value | Type |
Pfam:zf-SNAP50_C
|
198 |
401 |
6.5e-82 |
PFAM |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000071544
AA Change: I187M
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000102842 Gene: ENSMUSG00000028483 AA Change: I187M
Domain | Start | End | E-Value | Type |
Pfam:zf-SNAP50_C
|
197 |
269 |
3.2e-19 |
PFAM |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000123262
AA Change: I187M
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000124038 Gene: ENSMUSG00000028483 AA Change: I187M
Domain | Start | End | E-Value | Type |
Pfam:zf-SNAP50_C
|
197 |
403 |
3.3e-76 |
PFAM |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000124856
AA Change: I187M
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000124181 Gene: ENSMUSG00000028483 AA Change: I187M
Domain | Start | End | E-Value | Type |
Pfam:zf-SNAP50_C
|
197 |
403 |
3.3e-76 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000137512
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000143533
AA Change: I187M
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000123793 Gene: ENSMUSG00000028483 AA Change: I187M
Domain | Start | End | E-Value | Type |
Pfam:zf-SNAP50_C
|
197 |
403 |
3.3e-76 |
PFAM |
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 20 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adm2 |
T |
C |
15: 89,207,531 (GRCm39) |
I14T |
probably benign |
Het |
AY761185 |
G |
A |
8: 21,434,576 (GRCm39) |
R51C |
possibly damaging |
Het |
Cenpt |
T |
A |
8: 106,578,573 (GRCm39) |
T15S |
probably damaging |
Het |
Cotl1 |
T |
C |
8: 120,537,022 (GRCm39) |
K131E |
possibly damaging |
Het |
D5Ertd579e |
T |
A |
5: 36,770,621 (GRCm39) |
D1258V |
possibly damaging |
Het |
Decr1 |
A |
T |
4: 15,932,902 (GRCm39) |
I88K |
probably damaging |
Het |
Efcab3 |
T |
C |
11: 104,986,696 (GRCm39) |
S5408P |
probably damaging |
Het |
Gsto2 |
T |
C |
19: 47,863,312 (GRCm39) |
Y63H |
probably damaging |
Het |
Lrp2 |
A |
T |
2: 69,307,370 (GRCm39) |
D2896E |
probably damaging |
Het |
Lrrc3b |
T |
G |
14: 15,358,390 (GRCm38) |
D72A |
probably damaging |
Het |
Npas1 |
T |
C |
7: 16,199,063 (GRCm39) |
E164G |
probably damaging |
Het |
Or6f1 |
T |
A |
7: 85,970,909 (GRCm39) |
I84F |
probably damaging |
Het |
Parp14 |
C |
A |
16: 35,659,663 (GRCm39) |
R1653L |
probably benign |
Het |
Polq |
A |
G |
16: 36,837,720 (GRCm39) |
|
probably benign |
Het |
Sec31b |
A |
T |
19: 44,514,759 (GRCm39) |
|
probably benign |
Het |
Slc7a11 |
C |
T |
3: 50,336,334 (GRCm39) |
A337T |
possibly damaging |
Het |
Sorcs2 |
T |
C |
5: 36,222,699 (GRCm39) |
E352G |
probably benign |
Het |
Spout1 |
A |
C |
2: 30,065,067 (GRCm39) |
V311G |
probably damaging |
Het |
Syne1 |
T |
A |
10: 5,374,261 (GRCm39) |
K182M |
probably damaging |
Het |
Vmn2r110 |
A |
G |
17: 20,803,976 (GRCm39) |
S200P |
possibly damaging |
Het |
|
Other mutations in Snapc3 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00484:Snapc3
|
APN |
4 |
83,354,633 (GRCm39) |
missense |
probably damaging |
0.97 |
IGL01400:Snapc3
|
APN |
4 |
83,368,414 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02031:Snapc3
|
APN |
4 |
83,336,213 (GRCm39) |
missense |
probably benign |
0.04 |
IGL02475:Snapc3
|
APN |
4 |
83,368,333 (GRCm39) |
missense |
probably benign |
0.04 |
R0417:Snapc3
|
UTSW |
4 |
83,368,399 (GRCm39) |
missense |
probably benign |
0.41 |
R0628:Snapc3
|
UTSW |
4 |
83,368,397 (GRCm39) |
missense |
probably benign |
0.01 |
R0631:Snapc3
|
UTSW |
4 |
83,336,039 (GRCm39) |
missense |
probably damaging |
0.99 |
R0647:Snapc3
|
UTSW |
4 |
83,368,466 (GRCm39) |
missense |
probably damaging |
1.00 |
R2328:Snapc3
|
UTSW |
4 |
83,353,514 (GRCm39) |
nonsense |
probably null |
|
R4454:Snapc3
|
UTSW |
4 |
83,336,996 (GRCm39) |
missense |
probably damaging |
1.00 |
R4860:Snapc3
|
UTSW |
4 |
83,383,134 (GRCm39) |
intron |
probably benign |
|
R6497:Snapc3
|
UTSW |
4 |
83,371,363 (GRCm39) |
nonsense |
probably null |
|
R6762:Snapc3
|
UTSW |
4 |
83,353,495 (GRCm39) |
missense |
probably damaging |
1.00 |
R7325:Snapc3
|
UTSW |
4 |
83,353,507 (GRCm39) |
missense |
probably benign |
0.04 |
R7599:Snapc3
|
UTSW |
4 |
83,336,073 (GRCm39) |
nonsense |
probably null |
|
R7880:Snapc3
|
UTSW |
4 |
83,353,431 (GRCm39) |
missense |
probably damaging |
1.00 |
R8489:Snapc3
|
UTSW |
4 |
83,369,531 (GRCm39) |
missense |
probably damaging |
1.00 |
R9412:Snapc3
|
UTSW |
4 |
83,354,570 (GRCm39) |
missense |
probably benign |
0.01 |
|
Posted On |
2016-08-02 |