Incidental Mutation 'R6976:Snapc1'
ID |
542471 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Snapc1
|
Ensembl Gene |
ENSMUSG00000021113 |
Gene Name |
small nuclear RNA activating complex, polypeptide 1 |
Synonyms |
2700033G17Rik, 9630050P21Rik |
MMRRC Submission |
045382-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R6976 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
12 |
Chromosomal Location |
74011255-74035740 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 74016974 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glycine
at position 204
(D204G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000021532
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000021532]
[ENSMUST00000220882]
[ENSMUST00000221556]
[ENSMUST00000222025]
|
AlphaFold |
Q8K0S9 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000021532
AA Change: D204G
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000021532 Gene: ENSMUSG00000021113 AA Change: D204G
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 benign
Transcript: ENSMUST00000221833
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000222025
|
Meta Mutation Damage Score |
0.1747 |
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.4%
- 20x: 97.9%
|
Validation Efficiency |
100% (50/50) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 49 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acss2 |
T |
A |
2: 155,397,929 (GRCm39) |
|
probably null |
Het |
Adamts4 |
G |
T |
1: 171,079,877 (GRCm39) |
|
probably benign |
Het |
Adgrv1 |
T |
A |
13: 81,669,116 (GRCm39) |
K2480M |
probably damaging |
Het |
Ankhd1 |
A |
C |
18: 36,781,307 (GRCm39) |
S2120R |
probably benign |
Het |
Ash1l |
T |
A |
3: 88,888,964 (GRCm39) |
V281E |
possibly damaging |
Het |
Bdh1 |
G |
A |
16: 31,256,847 (GRCm39) |
A35T |
probably benign |
Het |
Brpf3 |
A |
G |
17: 29,054,751 (GRCm39) |
M1098V |
probably damaging |
Het |
Cel |
G |
A |
2: 28,446,854 (GRCm39) |
S439F |
probably damaging |
Het |
Dnah11 |
T |
C |
12: 118,162,378 (GRCm39) |
S64G |
probably benign |
Het |
Dpp7 |
T |
C |
2: 25,244,836 (GRCm39) |
|
probably null |
Het |
Fam83c |
T |
A |
2: 155,672,157 (GRCm39) |
Y426F |
possibly damaging |
Het |
Fasn |
A |
G |
11: 120,710,693 (GRCm39) |
I322T |
probably damaging |
Het |
Glod4 |
A |
G |
11: 76,134,406 (GRCm39) |
F22S |
probably damaging |
Het |
Gm3127 |
A |
G |
14: 15,432,190 (GRCm39) |
T231A |
possibly damaging |
Het |
Gm49383 |
A |
G |
12: 69,243,730 (GRCm39) |
S444P |
possibly damaging |
Het |
Gnaz |
T |
C |
10: 74,827,268 (GRCm39) |
S7P |
possibly damaging |
Het |
Grin2b |
C |
T |
6: 135,757,198 (GRCm39) |
S421N |
probably benign |
Het |
Grm1 |
T |
C |
10: 10,564,924 (GRCm39) |
D1128G |
probably benign |
Het |
Hoxb13 |
A |
G |
11: 96,087,044 (GRCm39) |
T284A |
probably benign |
Het |
Il9r |
G |
A |
11: 32,143,177 (GRCm39) |
Q260* |
probably null |
Het |
Lrrfip1 |
T |
A |
1: 91,042,737 (GRCm39) |
C381S |
probably benign |
Het |
Mitd1 |
A |
T |
1: 37,921,778 (GRCm39) |
D85E |
probably benign |
Het |
Muc4 |
G |
A |
16: 32,582,892 (GRCm39) |
D2556N |
possibly damaging |
Het |
Nlrc4 |
A |
G |
17: 74,752,934 (GRCm39) |
I483T |
probably damaging |
Het |
Or13e8 |
A |
G |
4: 43,697,170 (GRCm39) |
M1T |
probably null |
Het |
Or2ag17 |
A |
T |
7: 106,389,434 (GRCm39) |
M258K |
probably damaging |
Het |
Or8g4 |
A |
G |
9: 39,662,540 (GRCm39) |
N286S |
probably damaging |
Het |
Pcdhb7 |
C |
A |
18: 37,476,631 (GRCm39) |
A589E |
probably benign |
Het |
Pcdhgb5 |
G |
A |
18: 37,864,321 (GRCm39) |
E39K |
probably damaging |
Het |
Pja2 |
T |
C |
17: 64,615,954 (GRCm39) |
K314E |
probably damaging |
Het |
Plcb1 |
A |
G |
2: 135,104,159 (GRCm39) |
E276G |
possibly damaging |
Het |
Ppp2r5c |
A |
G |
12: 110,510,579 (GRCm39) |
E122G |
probably damaging |
Het |
Prrc2c |
A |
T |
1: 162,520,413 (GRCm39) |
N732K |
probably damaging |
Het |
Rb1cc1 |
T |
A |
1: 6,333,126 (GRCm39) |
D1348E |
probably benign |
Het |
Sh3rf1 |
G |
T |
8: 61,814,766 (GRCm39) |
E442* |
probably null |
Het |
Sry |
C |
T |
Y: 2,662,938 (GRCm39) |
D241N |
unknown |
Het |
Strn4 |
T |
A |
7: 16,564,279 (GRCm39) |
M303K |
probably benign |
Het |
Tas2r118 |
A |
G |
6: 23,969,470 (GRCm39) |
I197T |
probably benign |
Het |
Tnni3k |
A |
G |
3: 154,498,413 (GRCm39) |
Y809H |
probably benign |
Het |
Tnpo3 |
A |
T |
6: 29,572,594 (GRCm39) |
C419* |
probably null |
Het |
Trpm6 |
T |
C |
19: 18,760,527 (GRCm39) |
S143P |
probably benign |
Het |
Ttc23l |
A |
T |
15: 10,537,666 (GRCm39) |
C201* |
probably null |
Het |
Ubr4 |
A |
G |
4: 139,120,388 (GRCm39) |
N271S |
probably damaging |
Het |
Vmn1r70 |
T |
C |
7: 10,367,971 (GRCm39) |
M134T |
probably benign |
Het |
Vmn2r27 |
C |
T |
6: 124,201,312 (GRCm39) |
W215* |
probably null |
Het |
Xirp1 |
A |
T |
9: 119,846,984 (GRCm39) |
M633K |
probably damaging |
Het |
Zfp174 |
T |
C |
16: 3,665,804 (GRCm39) |
I23T |
possibly damaging |
Het |
Zfp536 |
T |
A |
7: 37,179,828 (GRCm39) |
S926C |
probably damaging |
Het |
Zfp943 |
T |
C |
17: 22,209,922 (GRCm39) |
S65P |
possibly 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 |
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 |
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'- CCTGCAACTTGTAGCCACTTTG -3'
(R):5'- ACATCTGCCTCTAACACAGGG -3'
Sequencing Primer
(F):5'- ACACATCTGAGTTTGAGGTCAGCC -3'
(R):5'- AGCAAGCACTTACCTTCC -3'
|
Posted On |
2018-11-28 |