Incidental Mutation 'R0152:Snapc1'
ID |
60899 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Snapc1
|
Ensembl Gene |
ENSMUSG00000021113 |
Gene Name |
small nuclear RNA activating complex, polypeptide 1 |
Synonyms |
2700033G17Rik, 9630050P21Rik |
MMRRC Submission |
038435-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R0152 (G1)
|
Quality Score |
225 |
Status
|
Not 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: 98.9%
- 3x: 97.9%
- 10x: 95.3%
- 20x: 89.5%
|
Validation Efficiency |
87% (40/46) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 45 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aass |
T |
C |
6: 23,074,688 (GRCm39) |
D834G |
probably damaging |
Het |
Abca13 |
T |
A |
11: 9,531,724 (GRCm39) |
H4650Q |
probably damaging |
Het |
Aqr |
T |
A |
2: 113,989,491 (GRCm39) |
T111S |
probably benign |
Het |
Arfip2 |
G |
A |
7: 105,286,430 (GRCm39) |
T124M |
probably damaging |
Het |
Arhgap44 |
G |
T |
11: 64,902,745 (GRCm39) |
A574E |
probably benign |
Het |
Arhgef26 |
T |
C |
3: 62,330,965 (GRCm39) |
S560P |
probably damaging |
Het |
Car5a |
T |
A |
8: 122,643,185 (GRCm39) |
N273I |
probably damaging |
Het |
Cd4 |
G |
A |
6: 124,844,709 (GRCm39) |
Q359* |
probably null |
Het |
Cgrrf1 |
G |
A |
14: 47,091,370 (GRCm39) |
C298Y |
probably damaging |
Het |
Clip3 |
G |
A |
7: 30,002,857 (GRCm39) |
A416T |
probably benign |
Het |
Dst |
C |
T |
1: 34,228,200 (GRCm39) |
P1606L |
probably damaging |
Het |
Eif3e |
G |
A |
15: 43,115,632 (GRCm39) |
A378V |
possibly damaging |
Het |
Ercc6 |
C |
G |
14: 32,268,862 (GRCm39) |
|
probably benign |
Het |
Eri2 |
A |
G |
7: 119,389,606 (GRCm39) |
V104A |
probably damaging |
Het |
Exph5 |
T |
A |
9: 53,264,504 (GRCm39) |
|
probably null |
Het |
Hmcn1 |
A |
T |
1: 150,539,630 (GRCm39) |
Y2954N |
probably benign |
Het |
Itga2 |
C |
T |
13: 115,002,850 (GRCm39) |
G547R |
probably benign |
Het |
Kbtbd11 |
T |
C |
8: 15,077,428 (GRCm39) |
V9A |
probably damaging |
Het |
Ldb2 |
T |
C |
5: 44,699,141 (GRCm39) |
D99G |
possibly damaging |
Het |
Mfsd12 |
G |
T |
10: 81,193,633 (GRCm39) |
D68Y |
probably damaging |
Het |
Mgarp |
T |
C |
3: 51,296,384 (GRCm39) |
D228G |
probably benign |
Het |
Myh14 |
A |
T |
7: 44,272,605 (GRCm39) |
L1441Q |
probably damaging |
Het |
Obscn |
T |
C |
11: 58,943,402 (GRCm39) |
D4810G |
probably benign |
Het |
Or10ak9 |
T |
A |
4: 118,726,083 (GRCm39) |
I34N |
possibly damaging |
Het |
Or14c40 |
A |
T |
7: 86,313,719 (GRCm39) |
Y283F |
probably damaging |
Het |
Or2z8 |
C |
T |
8: 72,812,244 (GRCm39) |
T240M |
probably damaging |
Het |
Or5b12 |
A |
G |
19: 12,897,472 (GRCm39) |
V67A |
possibly damaging |
Het |
Or8g30 |
A |
G |
9: 39,230,757 (GRCm39) |
I51T |
probably benign |
Het |
Pdhx |
A |
G |
2: 102,858,625 (GRCm39) |
V393A |
probably benign |
Het |
Pdpk1 |
C |
T |
17: 24,325,920 (GRCm39) |
R92H |
possibly damaging |
Het |
Pgr |
A |
T |
9: 8,965,023 (GRCm39) |
I889F |
probably benign |
Het |
Pum2 |
T |
A |
12: 8,778,754 (GRCm39) |
I468K |
possibly damaging |
Het |
Recql5 |
A |
G |
11: 115,785,499 (GRCm39) |
S666P |
probably benign |
Het |
Rims4 |
C |
T |
2: 163,705,849 (GRCm39) |
V262M |
possibly damaging |
Het |
Slc17a3 |
C |
T |
13: 24,039,841 (GRCm39) |
S293F |
probably damaging |
Het |
Slc26a4 |
T |
C |
12: 31,579,497 (GRCm39) |
I588M |
probably damaging |
Het |
Slc9a2 |
A |
G |
1: 40,781,964 (GRCm39) |
T398A |
probably damaging |
Het |
Tub |
A |
T |
7: 108,620,134 (GRCm39) |
N93Y |
probably damaging |
Het |
Usp3 |
T |
C |
9: 66,447,432 (GRCm39) |
T181A |
probably damaging |
Het |
Vars2 |
A |
G |
17: 35,970,919 (GRCm39) |
L637P |
probably damaging |
Het |
Vmn2r1 |
T |
C |
3: 63,989,240 (GRCm39) |
S60P |
possibly damaging |
Het |
Wdcp |
A |
G |
12: 4,901,583 (GRCm39) |
S480G |
probably benign |
Het |
Zbtb38 |
T |
C |
9: 96,568,333 (GRCm39) |
Y917C |
probably damaging |
Het |
Zfp68 |
T |
C |
5: 138,604,875 (GRCm39) |
K445E |
probably damaging |
Het |
Zmynd10 |
A |
G |
9: 107,428,144 (GRCm39) |
|
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 |
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 |
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 |
2013-07-24 |