Incidental Mutation 'IGL02653:Snapc1'
ID |
302252 |
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 # |
IGL02653
|
Quality Score |
|
Status
|
|
Chromosome |
12 |
Chromosomal Location |
74011255-74035740 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to A
at 74029261 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Proline to Glutamine
at position 348
(P348Q)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000021532
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000021532]
[ENSMUST00000220882]
[ENSMUST00000221556]
|
AlphaFold |
Q8K0S9 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000021532
AA Change: P348Q
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000021532 Gene: ENSMUSG00000021113 AA Change: P348Q
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 |
unknown
Transcript: ENSMUST00000220909
AA Change: P94Q
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000221556
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 36 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcc8 |
T |
C |
7: 45,765,191 (GRCm39) |
|
probably benign |
Het |
Alox5 |
T |
A |
6: 116,392,438 (GRCm39) |
H361L |
probably benign |
Het |
Arid2 |
A |
G |
15: 96,185,583 (GRCm39) |
N3S |
probably damaging |
Het |
Atp1a4 |
T |
A |
1: 172,078,973 (GRCm39) |
I182F |
possibly damaging |
Het |
Cby2 |
T |
C |
14: 75,820,597 (GRCm39) |
D385G |
probably damaging |
Het |
Ctnna2 |
A |
T |
6: 76,957,760 (GRCm39) |
D496E |
probably benign |
Het |
Cyp3a25 |
G |
T |
5: 145,939,920 (GRCm39) |
S29Y |
possibly damaging |
Het |
Dglucy |
G |
A |
12: 100,837,690 (GRCm39) |
G611D |
probably benign |
Het |
Efcab5 |
T |
C |
11: 77,022,848 (GRCm39) |
K622E |
probably damaging |
Het |
Esyt1 |
T |
A |
10: 128,346,877 (GRCm39) |
I1071L |
probably benign |
Het |
Fbn2 |
T |
C |
18: 58,209,777 (GRCm39) |
K1035E |
probably benign |
Het |
Frem1 |
T |
G |
4: 82,877,571 (GRCm39) |
E1335D |
probably benign |
Het |
Gm5900 |
A |
G |
7: 104,599,340 (GRCm39) |
|
noncoding transcript |
Het |
Ikbke |
T |
A |
1: 131,199,572 (GRCm39) |
Q283L |
possibly damaging |
Het |
Lepr |
A |
T |
4: 101,622,141 (GRCm39) |
I358F |
probably benign |
Het |
Lnpk |
A |
G |
2: 74,378,392 (GRCm39) |
V123A |
probably damaging |
Het |
Mis12 |
A |
G |
11: 70,916,357 (GRCm39) |
K130R |
probably damaging |
Het |
Ncapg2 |
T |
A |
12: 116,389,526 (GRCm39) |
|
probably null |
Het |
Npy6r |
T |
C |
18: 44,409,694 (GRCm39) |
*372Q |
probably null |
Het |
Polr3d |
T |
C |
14: 70,677,557 (GRCm39) |
D273G |
probably damaging |
Het |
Ppp2r3d |
A |
G |
9: 101,088,892 (GRCm39) |
V477A |
probably benign |
Het |
Prpf19 |
T |
A |
19: 10,880,328 (GRCm39) |
|
probably benign |
Het |
Ptgr3 |
T |
C |
18: 84,113,443 (GRCm39) |
V373A |
possibly damaging |
Het |
Pwwp2a |
A |
G |
11: 43,596,862 (GRCm39) |
T676A |
possibly damaging |
Het |
Ralgapb |
T |
A |
2: 158,285,229 (GRCm39) |
I242N |
probably damaging |
Het |
Scn3a |
A |
T |
2: 65,291,531 (GRCm39) |
S1738R |
probably damaging |
Het |
Tbc1d7 |
T |
C |
13: 43,318,874 (GRCm39) |
I88V |
probably benign |
Het |
Tnks2 |
T |
C |
19: 36,849,851 (GRCm39) |
S220P |
probably damaging |
Het |
Trim56 |
A |
T |
5: 137,141,760 (GRCm39) |
S585R |
probably damaging |
Het |
Trpm2 |
T |
G |
10: 77,748,503 (GRCm39) |
E1389A |
probably benign |
Het |
Tspear |
T |
A |
10: 77,542,799 (GRCm39) |
|
probably benign |
Het |
Vmn1r180 |
T |
C |
7: 23,652,500 (GRCm39) |
I221T |
probably damaging |
Het |
Vmn1r204 |
A |
C |
13: 22,740,800 (GRCm39) |
I144L |
probably benign |
Het |
Vmn2r20 |
A |
T |
6: 123,362,324 (GRCm39) |
I820N |
probably damaging |
Het |
Vwa3b |
T |
A |
1: 37,214,646 (GRCm39) |
|
probably benign |
Het |
Wnt1 |
G |
A |
15: 98,690,336 (GRCm39) |
G222R |
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 |
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 |
2015-04-16 |