Incidental Mutation 'R4128:Cdk19'
| ID |
315482 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cdk19
|
| Ensembl Gene |
ENSMUSG00000038481 |
| Gene Name |
cyclin dependent kinase 19 |
| Synonyms |
Cdc2l6, 2700084L06Rik |
| MMRRC Submission |
041635-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R4128 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
10 |
| Chromosomal Location |
40225283-40359814 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 40270391 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Valine
at position 67
(I67V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000093414
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000044672]
[ENSMUST00000095743]
[ENSMUST00000214659]
[ENSMUST00000215000]
|
| AlphaFold |
Q8BWD8 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000044672
AA Change: I67V
PolyPhen 2
Score 0.052 (Sensitivity: 0.94; Specificity: 0.83)
|
| SMART Domains |
Protein: ENSMUSP00000040936
Gene: ENSMUSG00000038481
AA Change: I67V
| Domain | Start | End | E-Value | Type |
|---|
|
S_TKc
|
21 |
335 |
9.96e-83 |
SMART |
|
low complexity region
|
371 |
405 |
N/A |
INTRINSIC |
|
low complexity region
|
407 |
422 |
N/A |
INTRINSIC |
|
low complexity region
|
467 |
499 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000095743
AA Change: I67V
PolyPhen 2
Score 0.092 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000093414
Gene: ENSMUSG00000038481
AA Change: I67V
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Pkinase_Tyr
|
22 |
172 |
7.2e-17 |
PFAM |
|
Pfam:Pkinase
|
23 |
166 |
2.5e-29 |
PFAM |
|
Pfam:Pkinase
|
164 |
291 |
1.2e-11 |
PFAM |
|
low complexity region
|
327 |
361 |
N/A |
INTRINSIC |
|
low complexity region
|
363 |
378 |
N/A |
INTRINSIC |
|
low complexity region
|
423 |
455 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000214659
AA Change: I67V
PolyPhen 2
Score 0.013 (Sensitivity: 0.96; Specificity: 0.78)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000215000
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000216736
|
| Meta Mutation Damage Score |
0.1828 |
| Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.6%
- 10x: 97.1%
- 20x: 94.5%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein that is one of the components of the Mediator co-activator complex. The Mediator complex is a multi-protein complex required for transcriptional activation by DNA binding transcription factors of genes transcribed by RNA polymerase II. The protein encoded by this gene is similar to cyclin-dependent kinase 8 which can also be a component of the Mediator complex. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Jul 2014]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 34 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamtsl4 |
C |
T |
3: 95,588,982 (GRCm39) |
R483Q |
probably benign |
Het |
| Bbox1 |
A |
G |
2: 110,100,525 (GRCm39) |
V224A |
probably benign |
Het |
| Cavin2 |
A |
G |
1: 51,340,581 (GRCm39) |
*419W |
probably null |
Het |
| Cds2 |
A |
G |
2: 132,139,191 (GRCm39) |
T145A |
probably benign |
Het |
| Chn2 |
G |
T |
6: 54,249,963 (GRCm39) |
R24M |
probably damaging |
Het |
| Csl |
T |
C |
10: 99,594,462 (GRCm39) |
D201G |
probably benign |
Het |
| Erap1 |
T |
C |
13: 74,814,315 (GRCm39) |
I33T |
probably damaging |
Het |
| Ermap |
T |
C |
4: 119,044,308 (GRCm39) |
T163A |
possibly damaging |
Het |
| Gnas |
A |
G |
2: 174,141,958 (GRCm39) |
N709S |
possibly damaging |
Het |
| Hsd17b14 |
G |
A |
7: 45,212,432 (GRCm39) |
V155M |
probably damaging |
Het |
| Igf2bp2 |
C |
T |
16: 21,897,371 (GRCm39) |
V281I |
probably benign |
Het |
| Ighj4 |
T |
C |
12: 113,392,176 (GRCm39) |
|
probably benign |
Het |
| Ireb2 |
T |
A |
9: 54,788,716 (GRCm39) |
D63E |
probably benign |
Het |
| Jarid2 |
T |
C |
13: 45,055,732 (GRCm39) |
S313P |
probably damaging |
Het |
| Kcnj11 |
A |
G |
7: 45,749,143 (GRCm39) |
F60S |
probably damaging |
Het |
| Lyplal1 |
A |
G |
1: 185,821,736 (GRCm39) |
C129R |
possibly damaging |
Het |
| Mertk |
C |
T |
2: 128,619,358 (GRCm39) |
Q539* |
probably null |
Het |
| Myrip |
C |
A |
9: 120,293,764 (GRCm39) |
S753* |
probably null |
Het |
| Narf |
G |
A |
11: 121,141,261 (GRCm39) |
|
probably null |
Het |
| Neb |
C |
A |
2: 52,182,712 (GRCm39) |
L1051F |
probably damaging |
Het |
| Nid1 |
T |
C |
13: 13,650,957 (GRCm39) |
V498A |
probably damaging |
Het |
| Or10ab5 |
T |
C |
7: 108,245,633 (GRCm39) |
N50S |
probably benign |
Het |
| Or14j8 |
A |
G |
17: 38,263,681 (GRCm39) |
I78T |
probably benign |
Het |
| Pam |
A |
G |
1: 97,762,193 (GRCm39) |
Y691H |
probably damaging |
Het |
| Poln |
A |
G |
5: 34,261,295 (GRCm39) |
S561P |
probably benign |
Het |
| Rab39 |
T |
A |
9: 53,597,804 (GRCm39) |
I154L |
probably benign |
Het |
| Rnf187 |
A |
T |
11: 58,824,883 (GRCm39) |
S220T |
probably benign |
Het |
| Stac |
C |
A |
9: 111,433,126 (GRCm39) |
|
probably null |
Het |
| Stxbp3 |
T |
C |
3: 108,702,147 (GRCm39) |
Q553R |
probably benign |
Het |
| Tmem179 |
A |
T |
12: 112,477,461 (GRCm39) |
F8I |
possibly damaging |
Het |
| Trip11 |
G |
A |
12: 101,861,957 (GRCm39) |
Q203* |
probably null |
Het |
| Ubash3a |
T |
C |
17: 31,456,249 (GRCm39) |
Y506H |
probably damaging |
Het |
| Unc13c |
C |
A |
9: 73,641,819 (GRCm39) |
A1225S |
probably damaging |
Het |
| Zranb1 |
C |
A |
7: 132,568,281 (GRCm39) |
S313* |
probably null |
Het |
|
| Other mutations in Cdk19 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00164:Cdk19
|
APN |
10 |
40,312,161 (GRCm39) |
missense |
probably benign |
0.14 |
|
IGL00482:Cdk19
|
APN |
10 |
40,345,644 (GRCm39) |
missense |
possibly damaging |
0.61 |
|
IGL03380:Cdk19
|
APN |
10 |
40,352,908 (GRCm39) |
missense |
probably benign |
0.42 |
|
R0217:Cdk19
|
UTSW |
10 |
40,352,254 (GRCm39) |
splice site |
probably benign |
|
|
R1639:Cdk19
|
UTSW |
10 |
40,352,965 (GRCm39) |
critical splice donor site |
probably null |
|
|
R1899:Cdk19
|
UTSW |
10 |
40,355,776 (GRCm39) |
utr 3 prime |
probably benign |
|
|
R2102:Cdk19
|
UTSW |
10 |
40,355,726 (GRCm39) |
utr 3 prime |
probably benign |
|
|
R3828:Cdk19
|
UTSW |
10 |
40,351,609 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R4124:Cdk19
|
UTSW |
10 |
40,270,391 (GRCm39) |
missense |
probably benign |
0.09 |
|
R4125:Cdk19
|
UTSW |
10 |
40,270,391 (GRCm39) |
missense |
probably benign |
0.09 |
|
R4474:Cdk19
|
UTSW |
10 |
40,345,952 (GRCm39) |
critical splice donor site |
probably null |
|
|
R4668:Cdk19
|
UTSW |
10 |
40,342,706 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R4750:Cdk19
|
UTSW |
10 |
40,352,195 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4871:Cdk19
|
UTSW |
10 |
40,352,232 (GRCm39) |
missense |
probably benign |
0.03 |
|
R4993:Cdk19
|
UTSW |
10 |
40,352,214 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R5078:Cdk19
|
UTSW |
10 |
40,312,150 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7130:Cdk19
|
UTSW |
10 |
40,355,761 (GRCm39) |
missense |
unknown |
|
|
R7570:Cdk19
|
UTSW |
10 |
40,353,954 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R8179:Cdk19
|
UTSW |
10 |
40,270,368 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R9027:Cdk19
|
UTSW |
10 |
40,355,728 (GRCm39) |
missense |
unknown |
|
|
R9438:Cdk19
|
UTSW |
10 |
40,352,176 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9684:Cdk19
|
UTSW |
10 |
40,351,594 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- CACTGTGTGCTTGCTTTAGC -3'
(R):5'- GCTAATATTGGAGACTGATATTGGG -3'
Sequencing Primer
(F):5'- GTCAAAAATAATCAGCAATGCATGGC -3'
(R):5'- AGGTTTCCAGATTTTCCTATT -3'
|
| Posted On |
2015-05-14 |
Incidental Mutation