Incidental Mutation 'IGL02031:Snapc3'
| ID |
184356 |
| 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 # |
IGL02031
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
4 |
| Chromosomal Location |
83335961-83385913 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 83336213 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 75
(D75G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000124468
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000030206]
[ENSMUST00000071544]
[ENSMUST00000123262]
[ENSMUST00000124856]
[ENSMUST00000137512]
[ENSMUST00000143533]
|
| AlphaFold |
Q9D2C9 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000030206
AA Change: D75G
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000030206
Gene: ENSMUSG00000028483
AA Change: D75G
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:zf-SNAP50_C
|
198 |
401 |
6.5e-82 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000071544
AA Change: D75G
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000102842
Gene: ENSMUSG00000028483
AA Change: D75G
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:zf-SNAP50_C
|
197 |
269 |
3.2e-19 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000123262
AA Change: D75G
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000124038
Gene: ENSMUSG00000028483
AA Change: D75G
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:zf-SNAP50_C
|
197 |
403 |
3.3e-76 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000124856
AA Change: D75G
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000124181
Gene: ENSMUSG00000028483
AA Change: D75G
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:zf-SNAP50_C
|
197 |
403 |
3.3e-76 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000137512
AA Change: D75G
PolyPhen 2
Score 0.044 (Sensitivity: 0.94; Specificity: 0.83)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000143533
AA Change: D75G
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000123793
Gene: ENSMUSG00000028483
AA Change: D75G
| 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: 32 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aipl1 |
T |
C |
11: 71,921,028 (GRCm39) |
|
probably benign |
Het |
| Akap11 |
T |
C |
14: 78,751,253 (GRCm39) |
D378G |
possibly damaging |
Het |
| Ankrd33b |
A |
T |
15: 31,325,329 (GRCm39) |
F129L |
probably damaging |
Het |
| Apob |
A |
G |
12: 8,065,222 (GRCm39) |
K4064E |
probably benign |
Het |
| Arhgef10l |
T |
C |
4: 140,302,656 (GRCm39) |
D506G |
probably damaging |
Het |
| Arid4b |
A |
C |
13: 14,327,997 (GRCm39) |
|
probably benign |
Het |
| Ccdc88c |
A |
T |
12: 100,899,570 (GRCm39) |
Y1263N |
probably damaging |
Het |
| Ckap5 |
T |
C |
2: 91,443,117 (GRCm39) |
L1697P |
possibly damaging |
Het |
| Cplane1 |
T |
C |
15: 8,209,253 (GRCm39) |
F230S |
probably damaging |
Het |
| Cpxm1 |
C |
T |
2: 130,235,601 (GRCm39) |
V464M |
probably damaging |
Het |
| Dhrs7c |
A |
G |
11: 67,706,715 (GRCm39) |
E291G |
probably benign |
Het |
| Dst |
C |
A |
1: 34,228,998 (GRCm39) |
P1872H |
possibly damaging |
Het |
| G6pc2 |
G |
A |
2: 69,053,335 (GRCm39) |
A130T |
probably benign |
Het |
| Gm4847 |
A |
G |
1: 166,462,578 (GRCm39) |
V304A |
probably damaging |
Het |
| Gm8267 |
T |
C |
14: 44,955,374 (GRCm39) |
D155G |
possibly damaging |
Het |
| Kank1 |
G |
A |
19: 25,388,066 (GRCm39) |
V580I |
probably benign |
Het |
| Kcnh4 |
A |
G |
11: 100,636,649 (GRCm39) |
S757P |
probably damaging |
Het |
| Krt34 |
C |
A |
11: 99,929,849 (GRCm39) |
A216S |
possibly damaging |
Het |
| Mfhas1 |
A |
T |
8: 36,056,526 (GRCm39) |
I334F |
probably damaging |
Het |
| Mrgprb8 |
A |
G |
7: 48,039,087 (GRCm39) |
M253V |
probably benign |
Het |
| Or52n4b |
A |
T |
7: 108,144,137 (GRCm39) |
H133L |
probably benign |
Het |
| Pp2d1 |
T |
A |
17: 53,815,468 (GRCm39) |
T419S |
probably damaging |
Het |
| Pprc1 |
T |
A |
19: 46,060,782 (GRCm39) |
|
probably benign |
Het |
| Reln |
A |
G |
5: 22,184,014 (GRCm39) |
S1662P |
probably damaging |
Het |
| Sema7a |
G |
A |
9: 57,862,423 (GRCm39) |
E209K |
possibly damaging |
Het |
| Serinc2 |
C |
T |
4: 130,158,237 (GRCm39) |
W15* |
probably null |
Het |
| Serpina3k |
A |
G |
12: 104,311,525 (GRCm39) |
T368A |
probably benign |
Het |
| Setd3 |
A |
T |
12: 108,129,289 (GRCm39) |
W54R |
probably damaging |
Het |
| Slc9c1 |
G |
A |
16: 45,419,833 (GRCm39) |
S1001N |
probably benign |
Het |
| Spata31e2 |
A |
G |
1: 26,724,104 (GRCm39) |
Y359H |
probably damaging |
Het |
| Stard9 |
T |
C |
2: 120,532,820 (GRCm39) |
S333P |
probably benign |
Het |
| Utrn |
T |
C |
10: 12,610,948 (GRCm39) |
D469G |
probably 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 |
|
IGL02475:Snapc3
|
APN |
4 |
83,368,333 (GRCm39) |
missense |
probably benign |
0.04 |
|
IGL03141:Snapc3
|
APN |
4 |
83,353,523 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
2014-05-07 |
Incidental Mutation