Incidental Mutation 'R2944:Csnk1a1'
| ID |
264635 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Csnk1a1
|
| Ensembl Gene |
ENSMUSG00000024576 |
| Gene Name |
casein kinase 1, alpha 1 |
| Synonyms |
4632404G05Rik, CK1a, 2610208K14Rik, 5430427P18Rik |
| MMRRC Submission |
040518-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R2944 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
18 |
| Chromosomal Location |
61688345-61723132 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 61711760 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Threonine
at position 258
(M258T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000131687
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000115246]
[ENSMUST00000163205]
[ENSMUST00000165123]
[ENSMUST00000165721]
[ENSMUST00000166990]
[ENSMUST00000167187]
[ENSMUST00000170862]
|
| AlphaFold |
Q8BK63 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000115246
AA Change: M258T
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000110901
Gene: ENSMUSG00000024576
AA Change: M258T
| 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
AA Change: M258T
PolyPhen 2
Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
|
| SMART Domains |
Protein: ENSMUSP00000127144
Gene: ENSMUSG00000024576
AA Change: M258T
| 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 |
unknown
Transcript: ENSMUST00000164253
AA Change: M70T
|
| SMART Domains |
Protein: ENSMUSP00000129295
Gene: ENSMUSG00000024576
AA Change: M70T
| 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
AA Change: M258T
PolyPhen 2
Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
|
| SMART Domains |
Protein: ENSMUSP00000128871
Gene: ENSMUSG00000024576
AA Change: M258T
| 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
AA Change: M258T
PolyPhen 2
Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
|
| SMART Domains |
Protein: ENSMUSP00000132083
Gene: ENSMUSG00000024576
AA Change: M258T
| 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
AA Change: M258T
PolyPhen 2
Score 0.021 (Sensitivity: 0.95; Specificity: 0.80)
|
| SMART Domains |
Protein: ENSMUSP00000131687
Gene: ENSMUSG00000024576
AA Change: M258T
| 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
AA Change: M286T
PolyPhen 2
Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
|
| SMART Domains |
Protein: ENSMUSP00000127463
Gene: ENSMUSG00000024576
AA Change: M286T
| 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
AA Change: M286T
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
| SMART Domains |
Protein: ENSMUSP00000127265
Gene: ENSMUSG00000024576
AA Change: M286T
| 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 |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000170482
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.0%
|
| 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: 21 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam12 |
T |
C |
7: 133,577,236 (GRCm39) |
M179V |
probably null |
Het |
| Alms1 |
C |
T |
6: 85,605,373 (GRCm39) |
T2341I |
probably damaging |
Het |
| Bpnt1 |
A |
G |
1: 185,084,406 (GRCm39) |
T168A |
probably damaging |
Het |
| Cdcp2 |
A |
C |
4: 106,959,755 (GRCm39) |
S57R |
possibly damaging |
Het |
| Cmya5 |
T |
A |
13: 93,229,350 (GRCm39) |
K1913* |
probably null |
Het |
| Coro1c |
C |
G |
5: 113,988,861 (GRCm39) |
G161R |
probably damaging |
Het |
| Dnah3 |
A |
G |
7: 119,550,333 (GRCm39) |
C3318R |
probably damaging |
Het |
| Fyco1 |
A |
T |
9: 123,655,713 (GRCm39) |
M1015K |
probably benign |
Het |
| Hfm1 |
A |
G |
5: 107,020,196 (GRCm39) |
S290P |
probably damaging |
Het |
| Kremen1 |
CGGG |
CGGGGGG |
11: 5,151,791 (GRCm39) |
|
probably benign |
Het |
| Lce1i |
G |
A |
3: 92,685,063 (GRCm39) |
P38S |
unknown |
Het |
| Nup210l |
T |
A |
3: 90,088,852 (GRCm39) |
S1156T |
probably damaging |
Het |
| Or8g35 |
A |
T |
9: 39,381,234 (GRCm39) |
S263T |
possibly damaging |
Het |
| Sec14l5 |
T |
A |
16: 4,998,697 (GRCm39) |
I579N |
probably benign |
Het |
| Semp2l2a |
A |
T |
8: 13,887,212 (GRCm39) |
L293Q |
probably damaging |
Het |
| Sh3tc1 |
C |
A |
5: 35,871,504 (GRCm39) |
V107L |
probably damaging |
Het |
| Tmprss11a |
T |
G |
5: 86,576,511 (GRCm39) |
R113S |
probably benign |
Het |
| Trmt10b |
A |
G |
4: 45,300,445 (GRCm39) |
M1V |
probably null |
Het |
| Ush1c |
T |
C |
7: 45,850,406 (GRCm39) |
E791G |
probably damaging |
Het |
| Uspl1 |
T |
C |
5: 149,138,606 (GRCm39) |
L328P |
probably damaging |
Het |
| Utrn |
G |
T |
10: 12,519,163 (GRCm39) |
T2263K |
probably damaging |
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 |
|
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 |
|
|
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 |
|
|
| Predicted Primers |
PCR Primer
(F):5'- TGACTCTAGCTGTTTCCAAGTTAAC -3'
(R):5'- ACACTCTGGGTTATCTGCGC -3'
Sequencing Primer
(F):5'- GCTGTTTCCAAGTTAACCAAAAC -3'
(R):5'- CGAGCAGTCTGCCCTCTTTAC -3'
|
| Posted On |
2015-02-05 |
Incidental Mutation