Incidental Mutation 'R0841:Snapc1'
ID |
77178 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Snapc1
|
Ensembl Gene |
ENSMUSG00000021113 |
Gene Name |
small nuclear RNA activating complex, polypeptide 1 |
Synonyms |
2700033G17Rik, 9630050P21Rik |
MMRRC Submission |
039020-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R0841 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
12 |
Chromosomal Location |
74011255-74035740 bp(+) (GRCm39) |
Type of Mutation |
splice site |
DNA Base Change (assembly) |
C to T
at 74021780 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000152102
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000021532]
[ENSMUST00000220882]
[ENSMUST00000221556]
|
AlphaFold |
Q8K0S9 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000021532
|
SMART Domains |
Protein: ENSMUSP00000021532 Gene: ENSMUSG00000021113
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
|
Meta Mutation Damage Score |
0.0898 |
Coding Region Coverage |
- 1x: 99.7%
- 3x: 99.1%
- 10x: 97.4%
- 20x: 94.1%
|
Validation Efficiency |
94% (45/48) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 42 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2310002L09Rik |
T |
A |
4: 73,860,986 (GRCm39) |
M205L |
probably benign |
Het |
Aass |
A |
T |
6: 23,075,810 (GRCm39) |
C776S |
probably benign |
Het |
Abi3bp |
T |
C |
16: 56,488,639 (GRCm39) |
S1257P |
possibly damaging |
Het |
Arhgap9 |
T |
A |
10: 127,165,508 (GRCm39) |
M639K |
probably damaging |
Het |
Ctsj |
C |
T |
13: 61,150,357 (GRCm39) |
S214N |
probably damaging |
Het |
Dnali1 |
T |
C |
4: 124,959,340 (GRCm39) |
S18G |
possibly damaging |
Het |
Eif4g3 |
C |
T |
4: 137,893,129 (GRCm39) |
T959M |
probably damaging |
Het |
Eml3 |
G |
A |
19: 8,915,049 (GRCm39) |
M635I |
probably benign |
Het |
Eml6 |
A |
G |
11: 29,727,430 (GRCm39) |
F1231L |
probably benign |
Het |
Fat4 |
A |
C |
3: 39,050,147 (GRCm39) |
K4003T |
probably damaging |
Het |
Fcho1 |
C |
T |
8: 72,165,204 (GRCm39) |
A418T |
probably benign |
Het |
Fgfr2 |
G |
A |
7: 129,863,635 (GRCm39) |
P4S |
probably benign |
Het |
Fgfr2 |
T |
C |
7: 130,373,737 (GRCm39) |
|
probably benign |
Het |
Glp1r |
T |
C |
17: 31,138,406 (GRCm39) |
V160A |
probably benign |
Het |
Gm9726 |
C |
T |
12: 93,895,054 (GRCm39) |
|
noncoding transcript |
Het |
Gm9956 |
C |
A |
10: 56,621,424 (GRCm39) |
L29M |
unknown |
Het |
Gm9956 |
T |
A |
10: 56,621,425 (GRCm39) |
L29Q |
unknown |
Het |
Hddc3 |
T |
A |
7: 79,995,401 (GRCm39) |
S139T |
probably benign |
Het |
Hmcn1 |
A |
T |
1: 150,555,358 (GRCm39) |
|
probably null |
Het |
Inpp5k |
T |
C |
11: 75,524,285 (GRCm39) |
|
probably benign |
Het |
Kcnq1 |
A |
G |
7: 142,661,189 (GRCm39) |
K32E |
probably benign |
Het |
Krtdap |
A |
T |
7: 30,488,975 (GRCm39) |
|
probably benign |
Het |
Ldb2 |
A |
G |
5: 44,690,016 (GRCm39) |
L201P |
probably damaging |
Het |
Mdn1 |
T |
C |
4: 32,752,032 (GRCm39) |
V4590A |
probably benign |
Het |
Nip7 |
C |
A |
8: 107,784,007 (GRCm39) |
H82Q |
probably benign |
Het |
Odad2 |
G |
T |
18: 7,268,436 (GRCm39) |
P361Q |
probably damaging |
Het |
Or52l1 |
A |
T |
7: 104,830,061 (GRCm39) |
V168E |
probably damaging |
Het |
Otud6b |
T |
A |
4: 14,812,532 (GRCm39) |
T272S |
probably benign |
Het |
Plxna1 |
A |
G |
6: 89,309,186 (GRCm39) |
V1131A |
probably damaging |
Het |
Prl7a1 |
T |
A |
13: 27,826,393 (GRCm39) |
|
probably benign |
Het |
Sipa1 |
C |
A |
19: 5,704,835 (GRCm39) |
A587S |
probably benign |
Het |
Slc17a6 |
A |
T |
7: 51,275,063 (GRCm39) |
I41F |
probably benign |
Het |
Slc43a2 |
T |
A |
11: 75,457,815 (GRCm39) |
Y363* |
probably null |
Het |
Smg1 |
A |
T |
7: 117,742,524 (GRCm39) |
L3230Q |
possibly damaging |
Het |
Syne2 |
T |
C |
12: 76,121,209 (GRCm39) |
|
probably benign |
Het |
Tap2 |
C |
A |
17: 34,434,914 (GRCm39) |
D652E |
possibly damaging |
Het |
Trp53rkb |
T |
C |
2: 166,637,430 (GRCm39) |
C129R |
probably benign |
Het |
Ugt2a2 |
T |
C |
5: 87,622,648 (GRCm39) |
T317A |
probably benign |
Het |
Ugt3a1 |
G |
A |
15: 9,306,214 (GRCm39) |
S121N |
probably benign |
Het |
Unc80 |
T |
C |
1: 66,511,247 (GRCm39) |
V85A |
probably damaging |
Het |
Vmn2r71 |
A |
G |
7: 85,267,749 (GRCm39) |
T68A |
possibly damaging |
Het |
Zfp7 |
G |
A |
15: 76,775,704 (GRCm39) |
C582Y |
probably damaging |
Het |
|
Other mutations in Snapc1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00272:Snapc1
|
APN |
12 |
74,015,148 (GRCm39) |
splice site |
probably null |
|
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- GGCATTTTAACCCAGCGTGAGC -3'
(R):5'- AGGGTCTCTTTCAGCAACAAGAGC -3'
Sequencing Primer
(F):5'- CCCAGCGTGAGCTGGTG -3'
(R):5'- taccccccaaccaaccc -3'
|
Posted On |
2013-10-16 |