Incidental Mutation 'IGL00984:Csnk1a1'
| ID |
29472 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Csnk1a1
|
| Ensembl Gene |
ENSMUSG00000024576 |
| Gene Name |
casein kinase 1, alpha 1 |
| Synonyms |
4632404G05Rik, CK1a, 2610208K14Rik, 5430427P18Rik |
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
IGL00984
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
18 |
| Chromosomal Location |
61688345-61723132 bp(+) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
A to G
at 61708624 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000127265
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000115246]
[ENSMUST00000163205]
[ENSMUST00000165123]
[ENSMUST00000165721]
[ENSMUST00000166990]
[ENSMUST00000167187]
[ENSMUST00000170862]
|
| AlphaFold |
Q8BK63 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000115246
|
| SMART Domains |
Protein: ENSMUSP00000110901
Gene: ENSMUSG00000024576
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Pkinase_Tyr
|
17 |
281 |
1.7e-15 |
PFAM |
|
Pfam:Pkinase
|
17 |
292 |
3.7e-39 |
PFAM |
|
low complexity region
|
302 |
320 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000163205
|
| SMART Domains |
Protein: ENSMUSP00000127144
Gene: ENSMUSG00000024576
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Pkinase_Tyr
|
17 |
281 |
2.6e-15 |
PFAM |
|
Pfam:Pkinase
|
17 |
292 |
5.6e-39 |
PFAM |
|
low complexity region
|
302 |
327 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000164253
|
| SMART Domains |
Protein: ENSMUSP00000129295
Gene: ENSMUSG00000024576
| Domain | Start | End | E-Value | Type |
|---|
|
PDB:4JJR|B
|
2 |
114 |
9e-52 |
PDB |
|
SCOP:d1csn__
|
6 |
114 |
5e-26 |
SMART |
|
low complexity region
|
115 |
140 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000165123
|
| SMART Domains |
Protein: ENSMUSP00000128871
Gene: ENSMUSG00000024576
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Pkinase_Tyr
|
17 |
281 |
1.3e-15 |
PFAM |
|
Pfam:Pkinase
|
17 |
292 |
2.9e-39 |
PFAM |
|
low complexity region
|
302 |
320 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000165721
|
| SMART Domains |
Protein: ENSMUSP00000132083
Gene: ENSMUSG00000024576
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Pkinase_Tyr
|
17 |
281 |
1.5e-15 |
PFAM |
|
Pfam:Pkinase
|
17 |
293 |
3.2e-39 |
PFAM |
|
low complexity region
|
302 |
327 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000166990
|
| SMART Domains |
Protein: ENSMUSP00000131687
Gene: ENSMUSG00000024576
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Pkinase
|
17 |
263 |
1e-28 |
PFAM |
|
Pfam:Pkinase_Tyr
|
17 |
281 |
1.1e-15 |
PFAM |
|
low complexity region
|
302 |
327 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000167187
|
| SMART Domains |
Protein: ENSMUSP00000127463
Gene: ENSMUSG00000024576
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Pkinase_Tyr
|
17 |
309 |
1.5e-12 |
PFAM |
|
Pfam:Pkinase
|
17 |
319 |
1e-37 |
PFAM |
|
low complexity region
|
330 |
348 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000170862
|
| SMART Domains |
Protein: ENSMUSP00000127265
Gene: ENSMUSG00000024576
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Pkinase_Tyr
|
17 |
309 |
1.6e-12 |
PFAM |
|
Pfam:Pkinase
|
17 |
320 |
1.1e-37 |
PFAM |
|
low complexity region
|
330 |
355 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
PHENOTYPE: Mice homozygous for a knock-out allele exhibit complete embryonic lethality. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 31 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam26b |
T |
A |
8: 43,973,410 (GRCm39) |
N531Y |
possibly damaging |
Het |
| Adamts12 |
G |
A |
15: 11,215,696 (GRCm39) |
R239K |
probably benign |
Het |
| Alppl2 |
T |
A |
1: 87,016,534 (GRCm39) |
H180L |
probably damaging |
Het |
| Atp10a |
T |
C |
7: 58,308,489 (GRCm39) |
V96A |
probably damaging |
Het |
| Atp2c1 |
T |
A |
9: 105,295,778 (GRCm39) |
I649F |
probably damaging |
Het |
| Atp6v1h |
A |
G |
1: 5,165,905 (GRCm39) |
Y125C |
probably damaging |
Het |
| Cds2 |
T |
C |
2: 132,140,441 (GRCm39) |
V213A |
probably benign |
Het |
| Ctdspl2 |
C |
T |
2: 121,799,767 (GRCm39) |
|
probably benign |
Het |
| Dohh |
G |
A |
10: 81,223,756 (GRCm39) |
|
probably null |
Het |
| Dst |
A |
T |
1: 34,295,401 (GRCm39) |
D5971V |
probably damaging |
Het |
| Focad |
G |
T |
4: 88,263,022 (GRCm39) |
M1006I |
unknown |
Het |
| Garin5b |
C |
T |
7: 4,760,526 (GRCm39) |
V729M |
probably damaging |
Het |
| Iqgap1 |
T |
C |
7: 80,376,546 (GRCm39) |
D1322G |
probably damaging |
Het |
| Mcm3ap |
G |
T |
10: 76,335,400 (GRCm39) |
S1274I |
probably damaging |
Het |
| Mrpl42 |
C |
T |
10: 95,326,202 (GRCm39) |
V97I |
probably benign |
Het |
| Or4p21 |
A |
T |
2: 88,276,539 (GRCm39) |
F248I |
probably damaging |
Het |
| Pabpc6 |
A |
T |
17: 9,887,618 (GRCm39) |
L311H |
probably damaging |
Het |
| Pdzrn3 |
A |
T |
6: 101,331,447 (GRCm39) |
S276T |
probably benign |
Het |
| Pi4ka |
A |
T |
16: 17,176,796 (GRCm39) |
C383* |
probably null |
Het |
| Pik3r6 |
A |
G |
11: 68,424,445 (GRCm39) |
D350G |
probably benign |
Het |
| Ptcd1 |
C |
T |
5: 145,102,239 (GRCm39) |
V27I |
probably benign |
Het |
| Ranbp2 |
A |
T |
10: 58,297,786 (GRCm39) |
R398* |
probably null |
Het |
| Rpl3l |
T |
C |
17: 24,954,445 (GRCm39) |
C336R |
probably damaging |
Het |
| Rxfp2 |
T |
C |
5: 149,990,597 (GRCm39) |
S443P |
probably benign |
Het |
| Sec24b |
T |
C |
3: 129,814,295 (GRCm39) |
|
probably benign |
Het |
| Septin11 |
T |
C |
5: 93,310,043 (GRCm39) |
M282T |
possibly damaging |
Het |
| Syt16 |
C |
T |
12: 74,269,604 (GRCm39) |
Q148* |
probably null |
Het |
| Timm23 |
A |
G |
14: 31,902,612 (GRCm39) |
I177T |
probably benign |
Het |
| Treh |
A |
G |
9: 44,594,264 (GRCm39) |
|
probably benign |
Het |
| Vmn1r71 |
A |
G |
7: 10,482,046 (GRCm39) |
V214A |
probably damaging |
Het |
| Zfp715 |
G |
A |
7: 42,949,208 (GRCm39) |
P251S |
probably benign |
Het |
|
| Other mutations in Csnk1a1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00939:Csnk1a1
|
APN |
18 |
61,708,521 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03107:Csnk1a1
|
APN |
18 |
61,701,376 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0513:Csnk1a1
|
UTSW |
18 |
61,709,618 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1068:Csnk1a1
|
UTSW |
18 |
61,702,634 (GRCm39) |
critical splice donor site |
probably null |
|
|
R1511:Csnk1a1
|
UTSW |
18 |
61,718,321 (GRCm39) |
intron |
probably benign |
|
|
R1855:Csnk1a1
|
UTSW |
18 |
61,708,498 (GRCm39) |
splice site |
probably null |
|
|
R2944:Csnk1a1
|
UTSW |
18 |
61,711,760 (GRCm39) |
missense |
probably benign |
0.02 |
|
R4426:Csnk1a1
|
UTSW |
18 |
61,718,381 (GRCm39) |
intron |
probably benign |
|
|
R4893:Csnk1a1
|
UTSW |
18 |
61,718,372 (GRCm39) |
intron |
probably benign |
|
|
R5000:Csnk1a1
|
UTSW |
18 |
61,711,840 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5070:Csnk1a1
|
UTSW |
18 |
61,688,852 (GRCm39) |
missense |
probably benign |
0.02 |
|
R5095:Csnk1a1
|
UTSW |
18 |
61,708,547 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6523:Csnk1a1
|
UTSW |
18 |
61,688,829 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6601:Csnk1a1
|
UTSW |
18 |
61,711,829 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7425:Csnk1a1
|
UTSW |
18 |
61,718,330 (GRCm39) |
missense |
unknown |
|
|
R7617:Csnk1a1
|
UTSW |
18 |
61,718,387 (GRCm39) |
missense |
unknown |
|
|
R8358:Csnk1a1
|
UTSW |
18 |
61,713,610 (GRCm39) |
splice site |
probably null |
|
|
R8379:Csnk1a1
|
UTSW |
18 |
61,688,925 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8411:Csnk1a1
|
UTSW |
18 |
61,688,888 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9571:Csnk1a1
|
UTSW |
18 |
61,704,969 (GRCm39) |
missense |
possibly damaging |
0.60 |
|
X0028:Csnk1a1
|
UTSW |
18 |
61,711,703 (GRCm39) |
splice site |
probably null |
|
|
X0064:Csnk1a1
|
UTSW |
18 |
61,702,635 (GRCm39) |
critical splice donor site |
probably null |
|
|
| Posted On |
2013-04-17 |
Incidental Mutation