Incidental Mutation 'R8083:Cdk8'
| ID |
629463 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cdk8
|
| Ensembl Gene |
ENSMUSG00000029635 |
| Gene Name |
cyclin dependent kinase 8 |
| Synonyms |
|
| MMRRC Submission |
067516-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R8083 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
146168040-146239684 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to G
at 146205100 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tryptophan to Glycine
at position 34
(W34G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000125668
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000031640]
[ENSMUST00000159467]
[ENSMUST00000161181]
[ENSMUST00000161652]
[ENSMUST00000162494]
|
| AlphaFold |
Q8R3L8 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000031640
AA Change: W94G
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000031640
Gene: ENSMUSG00000029635
AA Change: W94G
| Domain | Start | End | E-Value | Type |
|---|
|
S_TKc
|
21 |
335 |
1.89e-83 |
SMART |
|
low complexity region
|
372 |
391 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000159467
|
| SMART Domains |
Protein: ENSMUSP00000124525
Gene: ENSMUSG00000029635
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Pkinase_Tyr
|
22 |
104 |
2e-8 |
PFAM |
|
Pfam:Pkinase
|
22 |
108 |
1.8e-12 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000161181
AA Change: W34G
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000125668
Gene: ENSMUSG00000029635
AA Change: W34G
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Pkinase_Tyr
|
1 |
179 |
6e-16 |
PFAM |
|
Pfam:Pkinase
|
1 |
270 |
1.6e-44 |
PFAM |
|
low complexity region
|
307 |
326 |
N/A |
INTRINSIC |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000161652
AA Change: W94G
PolyPhen 2
Score 0.939 (Sensitivity: 0.80; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000124323
Gene: ENSMUSG00000029635
AA Change: W94G
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Pkinase_Tyr
|
22 |
215 |
2e-22 |
PFAM |
|
Pfam:Pkinase
|
23 |
226 |
5.2e-42 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000162494
AA Change: W94G
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000125516
Gene: ENSMUSG00000029635
AA Change: W94G
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Pkinase
|
22 |
153 |
5.9e-25 |
PFAM |
|
Pfam:Pkinase_Tyr
|
22 |
156 |
1.5e-15 |
PFAM |
|
| Meta Mutation Damage Score |
0.8974 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.8%
- 20x: 95.5%
|
| Validation Efficiency |
98% (51/52) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the cyclin-dependent protein kinase (CDK) family. CDK family members are known to be important regulators of cell cycle progression. This kinase and its regulatory subunit, cyclin C, are components of the Mediator transcriptional regulatory complex, involved in both transcriptional activation and repression by phosphorylation of the carboxy-terminal domain of the largest subunit of RNA polymerase II. This kinase regulates transcription by targeting the cyclin-dependent kinase 7 subunits of the general transcription initiation factor IIH, thus providing a link between the Mediator complex and the basal transcription machinery. Multiple pseudogenes of this gene have been identified. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2016]
PHENOTYPE: Mice homozygous for a gene-trapped allele die prior to implantation exhibiting fragmented blastomeres and failure to undergo compaction. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 40 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 6820408C15Rik |
A |
G |
2: 152,282,987 (GRCm39) |
E255G |
possibly damaging |
Het |
| Abcg5 |
A |
T |
17: 84,965,971 (GRCm39) |
L635Q |
probably damaging |
Het |
| Acsl3 |
G |
A |
1: 78,669,844 (GRCm39) |
D238N |
probably damaging |
Het |
| Adam32 |
A |
T |
8: 25,362,752 (GRCm39) |
C558S |
probably damaging |
Het |
| Adamtsl4 |
C |
T |
3: 95,591,711 (GRCm39) |
V126M |
possibly damaging |
Het |
| Apobec1 |
G |
A |
6: 122,555,888 (GRCm39) |
P190S |
probably damaging |
Het |
| Arel1 |
A |
T |
12: 84,987,136 (GRCm39) |
H93Q |
probably benign |
Het |
| Bpifa2 |
T |
G |
2: 153,852,412 (GRCm39) |
V96G |
probably damaging |
Het |
| Cacna1s |
G |
A |
1: 136,023,529 (GRCm39) |
V923I |
possibly damaging |
Het |
| Caprin2 |
A |
C |
6: 148,744,346 (GRCm39) |
Y1026* |
probably null |
Het |
| Cdkn3 |
A |
T |
14: 47,000,058 (GRCm39) |
Q28L |
probably benign |
Het |
| Cfap58 |
A |
G |
19: 47,971,957 (GRCm39) |
E629G |
probably damaging |
Het |
| Chaf1b |
T |
A |
16: 93,691,630 (GRCm39) |
C255S |
probably damaging |
Het |
| Clcn4 |
A |
G |
7: 7,294,427 (GRCm39) |
F445L |
possibly damaging |
Het |
| Cpne6 |
A |
C |
14: 55,750,698 (GRCm39) |
I140L |
probably benign |
Het |
| Cyp2b23 |
C |
A |
7: 26,385,828 (GRCm39) |
A10S |
possibly damaging |
Het |
| Eci3 |
G |
T |
13: 35,140,873 (GRCm39) |
T103K |
probably benign |
Het |
| Eri3 |
T |
A |
4: 117,450,359 (GRCm39) |
M253K |
probably damaging |
Het |
| Gm21103 |
C |
T |
14: 17,482,895 (GRCm39) |
V169M |
possibly damaging |
Het |
| Gm6594 |
G |
A |
17: 82,846,897 (GRCm39) |
A71T |
probably benign |
Het |
| Gns |
T |
C |
10: 121,214,008 (GRCm39) |
S228P |
probably damaging |
Het |
| Hbegf |
A |
T |
18: 36,648,224 (GRCm39) |
S46T |
probably benign |
Het |
| Hcn1 |
GCAACAACA |
GCAACAACAACA |
13: 118,112,296 (GRCm39) |
|
probably benign |
Het |
| Mcf2l |
T |
A |
8: 13,057,875 (GRCm39) |
|
probably null |
Het |
| Nfasc |
T |
C |
1: 132,524,320 (GRCm39) |
D846G |
probably benign |
Het |
| Nt5dc2 |
A |
G |
14: 30,856,783 (GRCm39) |
Y103C |
probably damaging |
Het |
| Osbpl9 |
C |
T |
4: 108,943,572 (GRCm39) |
V147M |
possibly damaging |
Het |
| Pid1 |
T |
C |
1: 84,015,970 (GRCm39) |
I146V |
probably benign |
Het |
| Rangap1 |
A |
G |
15: 81,603,101 (GRCm39) |
I108T |
probably benign |
Het |
| Rbm12b1 |
T |
C |
4: 12,146,409 (GRCm39) |
Y794H |
probably damaging |
Het |
| Rprd1b |
T |
C |
2: 157,892,052 (GRCm39) |
S192P |
probably damaging |
Het |
| Sacs |
A |
T |
14: 61,448,166 (GRCm39) |
D3404V |
possibly damaging |
Het |
| Setd5 |
G |
T |
6: 113,091,971 (GRCm39) |
G264V |
probably damaging |
Het |
| Tagln2 |
A |
T |
1: 172,332,766 (GRCm39) |
I18F |
possibly damaging |
Het |
| Tex51 |
T |
C |
18: 32,591,807 (GRCm39) |
|
probably null |
Het |
| Ttc17 |
C |
A |
2: 94,204,909 (GRCm39) |
V338F |
probably damaging |
Het |
| Xirp2 |
T |
A |
2: 67,339,043 (GRCm39) |
M428K |
possibly damaging |
Het |
| Zfp503 |
A |
T |
14: 22,036,132 (GRCm39) |
D261E |
probably damaging |
Het |
| Zfp784 |
T |
C |
7: 5,038,905 (GRCm39) |
T218A |
possibly damaging |
Het |
| Zp3 |
A |
C |
5: 136,013,376 (GRCm39) |
D236A |
probably damaging |
Het |
|
| Other mutations in Cdk8 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01476:Cdk8
|
APN |
5 |
146,231,973 (GRCm39) |
splice site |
probably null |
|
|
R0506:Cdk8
|
UTSW |
5 |
146,235,682 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1132:Cdk8
|
UTSW |
5 |
146,236,625 (GRCm39) |
missense |
probably benign |
0.09 |
|
R1513:Cdk8
|
UTSW |
5 |
146,233,188 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R2231:Cdk8
|
UTSW |
5 |
146,168,414 (GRCm39) |
start gained |
probably benign |
|
|
R3692:Cdk8
|
UTSW |
5 |
146,220,478 (GRCm39) |
nonsense |
probably null |
|
|
R4157:Cdk8
|
UTSW |
5 |
146,236,259 (GRCm39) |
intron |
probably benign |
|
|
R4760:Cdk8
|
UTSW |
5 |
146,229,476 (GRCm39) |
missense |
probably benign |
0.15 |
|
R4804:Cdk8
|
UTSW |
5 |
146,233,209 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5119:Cdk8
|
UTSW |
5 |
146,220,437 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R6633:Cdk8
|
UTSW |
5 |
146,235,656 (GRCm39) |
nonsense |
probably null |
|
|
R6755:Cdk8
|
UTSW |
5 |
146,205,126 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7442:Cdk8
|
UTSW |
5 |
146,229,579 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7936:Cdk8
|
UTSW |
5 |
146,236,644 (GRCm39) |
missense |
possibly damaging |
0.49 |
|
R8315:Cdk8
|
UTSW |
5 |
146,205,061 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9159:Cdk8
|
UTSW |
5 |
146,168,549 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9643:Cdk8
|
UTSW |
5 |
146,235,664 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9738:Cdk8
|
UTSW |
5 |
146,236,539 (GRCm39) |
missense |
probably benign |
0.08 |
|
Z1177:Cdk8
|
UTSW |
5 |
146,238,447 (GRCm39) |
missense |
probably benign |
0.00 |
|
Z1177:Cdk8
|
UTSW |
5 |
146,236,606 (GRCm39) |
missense |
probably damaging |
0.99 |
|
Z1177:Cdk8
|
UTSW |
5 |
146,236,605 (GRCm39) |
missense |
probably damaging |
0.96 |
|
| Predicted Primers |
PCR Primer
(F):5'- TCCAAGCAGCCAGGTAGAAATG -3'
(R):5'- AAAAGCCTCCAGGTTGGCAG -3'
Sequencing Primer
(F):5'- TAGAAATGCCTGCCATGCTG -3'
(R):5'- GCAGTACACGGACTGTTACTCTG -3'
|
| Posted On |
2020-06-30 |
Incidental Mutation