Incidental Mutation 'IGL00939:Csnk1a1'
| ID |
29425 |
| 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 # |
IGL00939
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
18 |
| Chromosomal Location |
61688345-61723132 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 61708521 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 194
(D194G)
|
| 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 damaging
Transcript: ENSMUST00000115246
AA Change: D166G
PolyPhen 2
Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000110901
Gene: ENSMUSG00000024576
AA Change: D166G
| 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 damaging
Transcript: ENSMUST00000163205
AA Change: D166G
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000127144
Gene: ENSMUSG00000024576
AA Change: D166G
| 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 damaging
Transcript: ENSMUST00000165123
AA Change: D166G
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000128871
Gene: ENSMUSG00000024576
AA Change: D166G
| 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 damaging
Transcript: ENSMUST00000165721
AA Change: D166G
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000132083
Gene: ENSMUSG00000024576
AA Change: D166G
| 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 damaging
Transcript: ENSMUST00000166990
AA Change: D166G
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000131687
Gene: ENSMUSG00000024576
AA Change: D166G
| 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 damaging
Transcript: ENSMUST00000167187
AA Change: D194G
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000127463
Gene: ENSMUSG00000024576
AA Change: D194G
| 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 damaging
Transcript: ENSMUST00000170862
AA Change: D194G
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000127265
Gene: ENSMUSG00000024576
AA Change: D194G
| 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: 20 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ablim2 |
C |
A |
5: 35,981,359 (GRCm39) |
|
probably benign |
Het |
| Ash1l |
T |
C |
3: 88,942,543 (GRCm39) |
V2061A |
probably damaging |
Het |
| Dop1b |
T |
A |
16: 93,570,971 (GRCm39) |
S1657T |
possibly damaging |
Het |
| Hcn4 |
A |
G |
9: 58,751,210 (GRCm39) |
I279V |
probably benign |
Het |
| Krt86 |
C |
T |
15: 101,371,741 (GRCm39) |
H104Y |
probably benign |
Het |
| Lamb1 |
T |
C |
12: 31,352,926 (GRCm39) |
S828P |
probably damaging |
Het |
| Morc1 |
G |
A |
16: 48,272,952 (GRCm39) |
C193Y |
probably damaging |
Het |
| Nudt16l1 |
T |
C |
16: 4,757,299 (GRCm39) |
F71L |
probably benign |
Het |
| Nup50 |
T |
G |
15: 84,822,621 (GRCm39) |
L381* |
probably null |
Het |
| Pccb |
A |
G |
9: 100,867,922 (GRCm39) |
S372P |
probably damaging |
Het |
| Rnf19b |
A |
G |
4: 128,965,582 (GRCm39) |
R227G |
probably damaging |
Het |
| Ror1 |
A |
G |
4: 100,298,423 (GRCm39) |
I599V |
probably benign |
Het |
| Sipa1l2 |
A |
G |
8: 126,191,174 (GRCm39) |
|
probably benign |
Het |
| Sowahb |
A |
T |
5: 93,191,701 (GRCm39) |
D339E |
probably benign |
Het |
| Ssc5d |
C |
T |
7: 4,939,280 (GRCm39) |
T572I |
possibly damaging |
Het |
| Tnn |
A |
G |
1: 159,975,100 (GRCm39) |
L109P |
probably damaging |
Het |
| Ttn |
T |
C |
2: 76,540,425 (GRCm39) |
Q34187R |
possibly damaging |
Het |
| Ube2j2 |
A |
G |
4: 156,040,904 (GRCm39) |
E177G |
possibly damaging |
Het |
| Vmn2r103 |
A |
G |
17: 20,015,227 (GRCm39) |
T456A |
probably benign |
Het |
| Wdr1 |
T |
C |
5: 38,692,666 (GRCm39) |
T80A |
probably benign |
Het |
|
| Other mutations in Csnk1a1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00984:Csnk1a1
|
APN |
18 |
61,708,624 (GRCm39) |
splice site |
probably benign |
|
|
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