Incidental Mutation 'IGL02686:Snapc1'
| ID |
303570 |
| 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 # |
IGL02686
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
12 |
| Chromosomal Location |
74011255-74035740 bp(+) (GRCm39) |
| Type of Mutation |
intron |
| DNA Base Change (assembly) |
C to A
at 74011370 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000021532]
[ENSMUST00000222025]
|
| AlphaFold |
Q8K0S9 |
| Predicted Effect |
unknown
Transcript: ENSMUST00000021532
AA Change: T12K
|
| SMART Domains |
Protein: ENSMUSP00000021532
Gene: ENSMUSG00000021113
AA Change: T12K
| 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 |
noncoding transcript
Transcript: ENSMUST00000181735
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000221833
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000222025
AA Change: T12K
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 45 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam4 |
C |
T |
12: 81,468,448 (GRCm39) |
G58S |
possibly damaging |
Het |
| Adcyap1r1 |
G |
A |
6: 55,458,110 (GRCm39) |
A304T |
probably benign |
Het |
| Adipoq |
A |
G |
16: 22,975,865 (GRCm39) |
T110A |
possibly damaging |
Het |
| Ago2 |
T |
C |
15: 72,985,591 (GRCm39) |
Y668C |
possibly damaging |
Het |
| Ampd2 |
A |
T |
3: 107,983,811 (GRCm39) |
D575E |
possibly damaging |
Het |
| Anxa5 |
C |
T |
3: 36,503,504 (GRCm39) |
E317K |
probably benign |
Het |
| Atf2 |
A |
T |
2: 73,675,844 (GRCm39) |
M169K |
possibly damaging |
Het |
| Bicc1 |
C |
A |
10: 70,779,190 (GRCm39) |
|
probably benign |
Het |
| Bicra |
A |
G |
7: 15,721,840 (GRCm39) |
M559T |
probably benign |
Het |
| Bltp3a |
T |
C |
17: 28,113,563 (GRCm39) |
I1245T |
probably benign |
Het |
| Bltp3b |
A |
T |
10: 89,641,055 (GRCm39) |
Q742L |
probably benign |
Het |
| Cacna1e |
G |
A |
1: 154,369,155 (GRCm39) |
A294V |
probably damaging |
Het |
| Cacna1h |
G |
A |
17: 25,604,723 (GRCm39) |
P1197S |
possibly damaging |
Het |
| Cmya5 |
G |
A |
13: 93,227,505 (GRCm39) |
Q2528* |
probably null |
Het |
| Csgalnact1 |
C |
A |
8: 68,854,144 (GRCm39) |
G219V |
probably damaging |
Het |
| Cts8 |
T |
C |
13: 61,398,784 (GRCm39) |
T241A |
probably benign |
Het |
| Cubn |
T |
C |
2: 13,330,037 (GRCm39) |
I2615V |
possibly damaging |
Het |
| Cxcl12 |
A |
G |
6: 117,150,546 (GRCm39) |
|
probably benign |
Het |
| Fig4 |
T |
C |
10: 41,140,000 (GRCm39) |
D307G |
probably damaging |
Het |
| Flt1 |
T |
C |
5: 147,525,412 (GRCm39) |
I909V |
probably damaging |
Het |
| Foxk1 |
T |
A |
5: 142,439,340 (GRCm39) |
S427T |
probably damaging |
Het |
| Gosr1 |
G |
A |
11: 76,641,688 (GRCm39) |
T130M |
probably benign |
Het |
| Grik1 |
G |
T |
16: 87,806,649 (GRCm39) |
|
probably null |
Het |
| Hipk1 |
C |
T |
3: 103,685,333 (GRCm39) |
S94N |
possibly damaging |
Het |
| Ints7 |
T |
C |
1: 191,318,704 (GRCm39) |
L147P |
probably damaging |
Het |
| Nsd3 |
A |
G |
8: 26,156,086 (GRCm39) |
D551G |
probably damaging |
Het |
| Or11g25 |
G |
A |
14: 50,723,426 (GRCm39) |
M170I |
probably benign |
Het |
| Or5p81 |
A |
T |
7: 108,267,093 (GRCm39) |
I157F |
probably benign |
Het |
| Prrc2c |
T |
C |
1: 162,535,516 (GRCm39) |
|
probably benign |
Het |
| Ren1 |
A |
T |
1: 133,286,207 (GRCm39) |
N250I |
possibly damaging |
Het |
| Ripply2 |
A |
C |
9: 86,898,009 (GRCm39) |
|
probably benign |
Het |
| Ryr1 |
G |
T |
7: 28,768,975 (GRCm39) |
|
probably benign |
Het |
| Smad3 |
T |
A |
9: 63,575,064 (GRCm39) |
K51M |
probably damaging |
Het |
| Srfbp1 |
T |
G |
18: 52,608,726 (GRCm39) |
V42G |
probably damaging |
Het |
| Srrm1 |
G |
A |
4: 135,052,415 (GRCm39) |
P658L |
unknown |
Het |
| Tab1 |
T |
C |
15: 80,033,031 (GRCm39) |
V105A |
probably benign |
Het |
| Tat |
T |
C |
8: 110,723,481 (GRCm39) |
V323A |
probably damaging |
Het |
| Tdo2 |
T |
C |
3: 81,875,462 (GRCm39) |
N164S |
probably benign |
Het |
| Tefm |
T |
A |
11: 80,027,722 (GRCm39) |
L345F |
probably damaging |
Het |
| Tmem145 |
C |
A |
7: 25,014,150 (GRCm39) |
N407K |
probably damaging |
Het |
| Vmn2r116 |
A |
G |
17: 23,607,767 (GRCm39) |
N445S |
probably damaging |
Het |
| Vmn2r20 |
A |
G |
6: 123,362,585 (GRCm39) |
M733T |
probably benign |
Het |
| Vmn2r93 |
G |
A |
17: 18,533,526 (GRCm39) |
V477M |
possibly damaging |
Het |
| Zdhhc4 |
A |
G |
5: 143,306,146 (GRCm39) |
F194S |
probably damaging |
Het |
| Zfp738 |
A |
T |
13: 67,821,771 (GRCm39) |
S25T |
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 |
|
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 |
Incidental Mutation