Incidental Mutation 'IGL00519:Cdk18'
| ID |
9570 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Cdk18
|
| Ensembl Gene |
ENSMUSG00000026437 |
| Gene Name |
cyclin dependent kinase 18 |
| Synonyms |
Pctk3 |
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.281)
|
| Stock # |
IGL00519
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
1 |
| Chromosomal Location |
132041285-132067433 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 132043226 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Leucine
at position 433
(R433L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000107981
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000027697]
[ENSMUST00000112362]
[ENSMUST00000185601]
|
| AlphaFold |
Q04899 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000027697
AA Change: R433L
PolyPhen 2
Score 0.363 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000027697
Gene: ENSMUSG00000026437
AA Change: R433L
| Domain | Start | End | E-Value | Type |
|---|
|
S_TKc
|
121 |
402 |
1.13e-95 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000112362
AA Change: R433L
PolyPhen 2
Score 0.363 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000107981
Gene: ENSMUSG00000026437
AA Change: R433L
| Domain | Start | End | E-Value | Type |
|---|
|
S_TKc
|
121 |
402 |
1.13e-95 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000185601
|
| SMART Domains |
Protein: ENSMUSP00000140034
Gene: ENSMUSG00000026437
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:S_TKc
|
1 |
34 |
6e-15 |
BLAST |
|
PDB:3MTL|A
|
1 |
34 |
2e-8 |
PDB |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000188387
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000189733
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 25 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam26a |
A |
T |
8: 44,022,562 (GRCm39) |
N309K |
probably damaging |
Het |
| Asap1 |
G |
A |
15: 63,982,791 (GRCm39) |
P846S |
probably damaging |
Het |
| Atg10 |
A |
G |
13: 91,302,330 (GRCm39) |
|
probably benign |
Het |
| Celsr1 |
A |
G |
15: 85,915,037 (GRCm39) |
Y979H |
probably damaging |
Het |
| Cracr2b |
T |
C |
7: 141,045,670 (GRCm39) |
|
probably benign |
Het |
| Csmd2 |
T |
C |
4: 128,377,266 (GRCm39) |
F2049L |
probably benign |
Het |
| Cubn |
T |
C |
2: 13,287,730 (GRCm39) |
N3450D |
probably benign |
Het |
| Dmrt1 |
T |
C |
19: 25,580,638 (GRCm39) |
L350P |
probably damaging |
Het |
| Dnah5 |
A |
T |
15: 28,444,364 (GRCm39) |
D4054V |
probably benign |
Het |
| Dpp8 |
A |
T |
9: 64,985,290 (GRCm39) |
T783S |
probably damaging |
Het |
| Enpp3 |
T |
C |
10: 24,663,670 (GRCm39) |
T564A |
probably benign |
Het |
| Exoc6b |
T |
C |
6: 84,966,435 (GRCm39) |
K180E |
probably benign |
Het |
| Faf1 |
T |
A |
4: 109,697,578 (GRCm39) |
F301L |
probably benign |
Het |
| Fbxo7 |
A |
T |
10: 85,864,928 (GRCm39) |
E77V |
probably damaging |
Het |
| Gabpa |
T |
G |
16: 84,657,489 (GRCm39) |
*455G |
probably null |
Het |
| Hexim2 |
A |
T |
11: 103,024,905 (GRCm39) |
M1L |
probably benign |
Het |
| Lrrc24 |
T |
A |
15: 76,602,263 (GRCm39) |
N164I |
probably damaging |
Het |
| Lrrc8b |
G |
A |
5: 105,629,591 (GRCm39) |
A646T |
possibly damaging |
Het |
| Mansc1 |
T |
A |
6: 134,587,769 (GRCm39) |
Q136L |
possibly damaging |
Het |
| Mlxip |
T |
A |
5: 123,585,268 (GRCm39) |
V592E |
probably benign |
Het |
| Ncor2 |
T |
C |
5: 125,161,988 (GRCm39) |
T429A |
unknown |
Het |
| Tbcd |
A |
G |
11: 121,466,147 (GRCm39) |
N591S |
probably damaging |
Het |
| Tenm4 |
T |
C |
7: 96,454,345 (GRCm39) |
|
probably benign |
Het |
| Uri1 |
A |
G |
7: 37,660,978 (GRCm39) |
S522P |
probably damaging |
Het |
| Ush2a |
C |
T |
1: 188,176,865 (GRCm39) |
S1343L |
probably benign |
Het |
|
| Other mutations in Cdk18 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00929:Cdk18
|
APN |
1 |
132,046,257 (GRCm39) |
critical splice donor site |
probably null |
|
|
R0184:Cdk18
|
UTSW |
1 |
132,046,276 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0606:Cdk18
|
UTSW |
1 |
132,045,355 (GRCm39) |
unclassified |
probably benign |
|
|
R0624:Cdk18
|
UTSW |
1 |
132,046,610 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1295:Cdk18
|
UTSW |
1 |
132,047,698 (GRCm39) |
unclassified |
probably benign |
|
|
R1296:Cdk18
|
UTSW |
1 |
132,047,698 (GRCm39) |
unclassified |
probably benign |
|
|
R1298:Cdk18
|
UTSW |
1 |
132,050,189 (GRCm39) |
start gained |
probably benign |
|
|
R1611:Cdk18
|
UTSW |
1 |
132,050,113 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1959:Cdk18
|
UTSW |
1 |
132,045,559 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R2184:Cdk18
|
UTSW |
1 |
132,043,690 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2279:Cdk18
|
UTSW |
1 |
132,043,690 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2391:Cdk18
|
UTSW |
1 |
132,043,212 (GRCm39) |
missense |
probably benign |
|
|
R4601:Cdk18
|
UTSW |
1 |
132,044,657 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R5001:Cdk18
|
UTSW |
1 |
132,046,587 (GRCm39) |
critical splice donor site |
probably null |
|
|
R5208:Cdk18
|
UTSW |
1 |
132,045,218 (GRCm39) |
critical splice donor site |
probably null |
|
|
R5818:Cdk18
|
UTSW |
1 |
132,046,836 (GRCm39) |
critical splice donor site |
probably null |
|
|
R6282:Cdk18
|
UTSW |
1 |
132,047,758 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6546:Cdk18
|
UTSW |
1 |
132,050,088 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6644:Cdk18
|
UTSW |
1 |
132,049,807 (GRCm39) |
nonsense |
probably null |
|
|
R6892:Cdk18
|
UTSW |
1 |
132,049,848 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6965:Cdk18
|
UTSW |
1 |
132,045,319 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7698:Cdk18
|
UTSW |
1 |
132,050,116 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7828:Cdk18
|
UTSW |
1 |
132,044,642 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
R9386:Cdk18
|
UTSW |
1 |
132,044,183 (GRCm39) |
critical splice donor site |
probably null |
|
|
R9488:Cdk18
|
UTSW |
1 |
132,049,260 (GRCm39) |
missense |
probably benign |
0.01 |
|
| Posted On |
2012-12-06 |
Incidental Mutation