Incidental Mutation 'IGL00272:Snapc1'
| ID |
5979 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Snapc1
|
| Ensembl Gene |
ENSMUSG00000021113 |
| Gene Name |
small nuclear RNA activating complex, polypeptide 1 |
| Synonyms |
2700033G17Rik, 9630050P21Rik |
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
IGL00272
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
12 |
| Chromosomal Location |
74011255-74035740 bp(+) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
A to G
at 74015148 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000021532]
[ENSMUST00000220882]
[ENSMUST00000221556]
[ENSMUST00000222025]
|
| AlphaFold |
Q8K0S9 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000021532
AA Change: K161E
PolyPhen 2
Score 0.851 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000021532
Gene: ENSMUSG00000021113
AA Change: K161E
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
2 |
16 |
N/A |
INTRINSIC |
|
Pfam:SNAPc_SNAP43
|
26 |
210 |
4.5e-65 |
PFAM |
|
low complexity region
|
261 |
273 |
N/A |
INTRINSIC |
|
low complexity region
|
307 |
316 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000220882
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000220909
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000221556
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000221833
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000222025
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 35 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700030J22Rik |
A |
G |
8: 117,700,279 (GRCm39) |
V41A |
probably damaging |
Het |
| Ankrd12 |
C |
T |
17: 66,293,169 (GRCm39) |
V755I |
probably benign |
Het |
| Arrdc3 |
T |
C |
13: 81,038,691 (GRCm39) |
S218P |
probably damaging |
Het |
| Bzw1 |
T |
C |
1: 58,442,101 (GRCm39) |
V292A |
possibly damaging |
Het |
| Cers2 |
T |
C |
3: 95,229,211 (GRCm39) |
Y228H |
probably damaging |
Het |
| Dnaaf6 |
A |
G |
X: 139,006,711 (GRCm39) |
I197V |
probably benign |
Het |
| Egf |
C |
T |
3: 129,505,098 (GRCm39) |
M625I |
probably benign |
Het |
| Fbxw8 |
A |
T |
5: 118,206,162 (GRCm39) |
H595Q |
probably benign |
Het |
| Fshr |
T |
A |
17: 89,292,699 (GRCm39) |
I660F |
probably benign |
Het |
| Gapdh |
C |
T |
6: 125,139,470 (GRCm39) |
V267M |
probably damaging |
Het |
| Ginm1 |
T |
C |
10: 7,668,460 (GRCm39) |
|
probably benign |
Het |
| Gja1 |
A |
G |
10: 56,264,418 (GRCm39) |
D259G |
probably benign |
Het |
| Gm21814 |
T |
A |
6: 149,483,502 (GRCm39) |
|
noncoding transcript |
Het |
| Gm26870 |
T |
C |
9: 3,002,340 (GRCm39) |
|
probably benign |
Het |
| Habp2 |
G |
A |
19: 56,306,264 (GRCm39) |
C482Y |
probably damaging |
Het |
| Knl1 |
A |
C |
2: 118,894,564 (GRCm39) |
N79T |
probably damaging |
Het |
| Lama3 |
G |
A |
18: 12,624,605 (GRCm39) |
C1450Y |
probably damaging |
Het |
| Lats2 |
T |
C |
14: 57,929,026 (GRCm39) |
T950A |
probably benign |
Het |
| Map2k2 |
T |
A |
10: 80,956,907 (GRCm39) |
M95K |
probably damaging |
Het |
| Med12l |
T |
A |
3: 58,949,757 (GRCm39) |
I160N |
probably damaging |
Het |
| Or9m1b |
A |
G |
2: 87,836,988 (GRCm39) |
S45P |
probably damaging |
Het |
| Or9m2 |
A |
T |
2: 87,820,782 (GRCm39) |
D109V |
probably damaging |
Het |
| Pes1 |
T |
C |
11: 3,926,803 (GRCm39) |
S362P |
probably damaging |
Het |
| Ppp6r2 |
G |
T |
15: 89,170,016 (GRCm39) |
A844S |
probably benign |
Het |
| Rnf130 |
A |
G |
11: 49,984,623 (GRCm39) |
I308V |
probably damaging |
Het |
| Scn11a |
T |
C |
9: 119,645,669 (GRCm39) |
N95S |
probably damaging |
Het |
| Shoc1 |
A |
G |
4: 59,086,961 (GRCm39) |
F284L |
probably benign |
Het |
| Skint2 |
A |
G |
4: 112,481,409 (GRCm39) |
T91A |
probably damaging |
Het |
| Smg1 |
A |
G |
7: 117,797,494 (GRCm39) |
|
probably benign |
Het |
| Stard10 |
A |
T |
7: 100,971,173 (GRCm39) |
Y47F |
probably damaging |
Het |
| Tenm3 |
C |
T |
8: 48,870,095 (GRCm39) |
V233I |
probably damaging |
Het |
| Tex14 |
G |
A |
11: 87,426,469 (GRCm39) |
S1165N |
probably damaging |
Het |
| Unc5a |
A |
G |
13: 55,143,633 (GRCm39) |
I106V |
probably benign |
Het |
| Vps54 |
T |
A |
11: 21,227,909 (GRCm39) |
Y275N |
possibly damaging |
Het |
| Wdr87-ps |
G |
T |
7: 29,237,047 (GRCm39) |
|
noncoding transcript |
Het |
|
| Other mutations in Snapc1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00529:Snapc1
|
APN |
12 |
74,011,429 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL00676:Snapc1
|
APN |
12 |
74,018,687 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01373:Snapc1
|
APN |
12 |
74,011,454 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02060:Snapc1
|
APN |
12 |
74,014,810 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02309:Snapc1
|
APN |
12 |
74,014,801 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02653:Snapc1
|
APN |
12 |
74,029,261 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02686:Snapc1
|
APN |
12 |
74,011,370 (GRCm39) |
intron |
probably benign |
|
|
IGL03160:Snapc1
|
APN |
12 |
74,016,978 (GRCm39) |
missense |
probably damaging |
1.00 |
|
PIT4362001:Snapc1
|
UTSW |
12 |
74,029,269 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R0056:Snapc1
|
UTSW |
12 |
74,021,806 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0057:Snapc1
|
UTSW |
12 |
74,021,806 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0057:Snapc1
|
UTSW |
12 |
74,021,806 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0113:Snapc1
|
UTSW |
12 |
74,021,806 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0152:Snapc1
|
UTSW |
12 |
74,021,806 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0153:Snapc1
|
UTSW |
12 |
74,021,806 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0244:Snapc1
|
UTSW |
12 |
74,021,806 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0245:Snapc1
|
UTSW |
12 |
74,021,806 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0316:Snapc1
|
UTSW |
12 |
74,021,806 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0318:Snapc1
|
UTSW |
12 |
74,021,806 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0352:Snapc1
|
UTSW |
12 |
74,021,806 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0646:Snapc1
|
UTSW |
12 |
74,021,806 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0841:Snapc1
|
UTSW |
12 |
74,021,780 (GRCm39) |
splice site |
probably benign |
|
|
R2188:Snapc1
|
UTSW |
12 |
74,017,001 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2483:Snapc1
|
UTSW |
12 |
74,011,417 (GRCm39) |
missense |
probably benign |
0.02 |
|
R4165:Snapc1
|
UTSW |
12 |
74,029,354 (GRCm39) |
critical splice donor site |
probably null |
|
|
R4169:Snapc1
|
UTSW |
12 |
74,029,265 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4549:Snapc1
|
UTSW |
12 |
74,017,053 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R4550:Snapc1
|
UTSW |
12 |
74,017,053 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R4658:Snapc1
|
UTSW |
12 |
74,030,642 (GRCm39) |
missense |
possibly damaging |
0.75 |
|
R6976:Snapc1
|
UTSW |
12 |
74,016,974 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7432:Snapc1
|
UTSW |
12 |
74,015,068 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7488:Snapc1
|
UTSW |
12 |
74,029,285 (GRCm39) |
missense |
probably benign |
0.39 |
|
R8507:Snapc1
|
UTSW |
12 |
74,011,506 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8809:Snapc1
|
UTSW |
12 |
74,021,812 (GRCm39) |
missense |
probably benign |
0.31 |
|
R9287:Snapc1
|
UTSW |
12 |
74,018,773 (GRCm39) |
unclassified |
probably benign |
|
|
R9685:Snapc1
|
UTSW |
12 |
74,017,115 (GRCm39) |
critical splice donor site |
probably null |
|
|
R9705:Snapc1
|
UTSW |
12 |
74,015,150 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2012-04-20 |
Incidental Mutation