Incidental Mutation 'R0057:Snapc1'
| ID |
64376 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Snapc1
|
| Ensembl Gene |
ENSMUSG00000021113 |
| Gene Name |
small nuclear RNA activating complex, polypeptide 1 |
| Synonyms |
2700033G17Rik, 9630050P21Rik |
| MMRRC Submission |
038351-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R0057 (G1)
|
| Quality Score |
198 |
|
Status
|
Validated
|
| Chromosome |
12 |
| Chromosomal Location |
74011255-74035740 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 74021806 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Cysteine
at position 81
(R81C)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000152248
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000021532]
[ENSMUST00000220882]
[ENSMUST00000221556]
|
| AlphaFold |
Q8K0S9 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000021532
AA Change: R302C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000021532
Gene: ENSMUSG00000021113
AA Change: R302C
| 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 damaging
Transcript: ENSMUST00000220882
AA Change: R81C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000220909
AA Change: R48C
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000221556
|
| Meta Mutation Damage Score |
0.2723 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.9%
- 10x: 97.7%
- 20x: 95.9%
|
| Validation Efficiency |
100% (50/50) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 28 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam23 |
T |
A |
1: 63,610,078 (GRCm39) |
H693Q |
probably damaging |
Het |
| Ap5z1 |
T |
C |
5: 142,456,144 (GRCm39) |
|
probably benign |
Het |
| Bloc1s6 |
T |
A |
2: 122,586,141 (GRCm39) |
|
probably benign |
Het |
| Caskin1 |
A |
G |
17: 24,723,870 (GRCm39) |
N886S |
probably damaging |
Het |
| Ctse |
G |
T |
1: 131,591,109 (GRCm39) |
D97Y |
probably damaging |
Het |
| Dcaf11 |
T |
C |
14: 55,806,767 (GRCm39) |
V490A |
probably benign |
Het |
| Dctn1 |
A |
G |
6: 83,156,874 (GRCm39) |
H7R |
probably benign |
Het |
| Dscam |
A |
C |
16: 96,474,936 (GRCm39) |
W1209G |
probably damaging |
Het |
| Fcsk |
C |
T |
8: 111,620,400 (GRCm39) |
|
probably benign |
Het |
| Gna11 |
A |
G |
10: 81,366,774 (GRCm39) |
M312T |
probably benign |
Het |
| Hacd2 |
T |
A |
16: 34,895,997 (GRCm39) |
V105D |
probably damaging |
Het |
| Htra4 |
C |
A |
8: 25,528,824 (GRCm39) |
V23L |
probably benign |
Het |
| Marf1 |
C |
T |
16: 13,960,398 (GRCm39) |
A549T |
probably damaging |
Het |
| Msh4 |
C |
T |
3: 153,575,318 (GRCm39) |
A686T |
probably benign |
Het |
| Nbas |
T |
A |
12: 13,440,958 (GRCm39) |
M1096K |
probably benign |
Het |
| Or5m10b |
C |
A |
2: 85,699,597 (GRCm39) |
Y220* |
probably null |
Het |
| Ppp1r16a |
C |
T |
15: 76,574,999 (GRCm39) |
|
probably benign |
Het |
| Prlr |
A |
G |
15: 10,328,509 (GRCm39) |
Y328C |
probably damaging |
Het |
| Ros1 |
C |
T |
10: 52,056,287 (GRCm39) |
V68I |
probably benign |
Het |
| Shmt2 |
G |
A |
10: 127,356,917 (GRCm39) |
T31M |
possibly damaging |
Het |
| Tas2r135 |
A |
G |
6: 42,383,354 (GRCm39) |
T298A |
probably benign |
Het |
| Tmem175 |
C |
T |
5: 108,787,428 (GRCm39) |
H92Y |
probably damaging |
Het |
| Top3a |
C |
T |
11: 60,631,510 (GRCm39) |
A951T |
probably benign |
Het |
| Trpc4ap |
T |
C |
2: 155,482,406 (GRCm39) |
E528G |
possibly damaging |
Het |
| Trpm6 |
T |
C |
19: 18,764,119 (GRCm39) |
C242R |
probably benign |
Het |
| Vwa7 |
G |
A |
17: 35,243,523 (GRCm39) |
S710N |
possibly damaging |
Het |
| Zfa-ps |
A |
T |
10: 52,421,202 (GRCm39) |
|
noncoding transcript |
Het |
| Zfp770 |
T |
A |
2: 114,027,713 (GRCm39) |
R119* |
probably null |
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- CAGGAATCTGGCGGTACAGTTACG -3'
(R):5'- AGGGTCTCTTTCAGCAACAAGAGC -3'
Sequencing Primer
(F):5'- GCTCTGTCCTCAGACCATTT -3'
(R):5'- taccccccaaccaaccc -3'
|
| Posted On |
2013-08-06 |
Incidental Mutation