Incidental Mutation 'R4124:Cdk19'
| ID |
315319 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cdk19
|
| Ensembl Gene |
ENSMUSG00000038481 |
| Gene Name |
cyclin dependent kinase 19 |
| Synonyms |
Cdc2l6, 2700084L06Rik |
| MMRRC Submission |
041632-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R4124 (G1)
|
| Quality Score |
225 |
|
Status
|
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: 99.3%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.7%
|
| Validation Efficiency |
100% (35/35) |
| 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: 30 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930433I11Rik |
T |
A |
7: 40,643,345 (GRCm39) |
M338K |
probably damaging |
Het |
| 4933409G03Rik |
T |
A |
2: 68,446,568 (GRCm39) |
|
probably benign |
Het |
| Adamtsl4 |
C |
T |
3: 95,588,982 (GRCm39) |
R483Q |
probably benign |
Het |
| Aldh7a1 |
A |
T |
18: 56,670,395 (GRCm39) |
|
probably benign |
Het |
| Ank |
T |
C |
15: 27,571,709 (GRCm39) |
F327S |
probably damaging |
Het |
| Ap2b1 |
A |
G |
11: 83,256,471 (GRCm39) |
|
probably null |
Het |
| Cd6 |
G |
T |
19: 10,767,972 (GRCm39) |
P630T |
probably damaging |
Het |
| D630003M21Rik |
C |
T |
2: 158,038,513 (GRCm39) |
V978M |
probably damaging |
Het |
| Dsp |
A |
G |
13: 38,370,689 (GRCm39) |
D864G |
probably damaging |
Het |
| Duox1 |
A |
G |
2: 122,167,902 (GRCm39) |
R1062G |
probably damaging |
Het |
| Fbp2 |
T |
C |
13: 63,002,755 (GRCm39) |
E99G |
probably damaging |
Het |
| Fras1 |
A |
G |
5: 96,918,512 (GRCm39) |
D3516G |
probably benign |
Het |
| Gpx6 |
C |
T |
13: 21,501,815 (GRCm39) |
Q146* |
probably null |
Het |
| Grid2 |
A |
T |
6: 63,480,417 (GRCm39) |
Q77L |
probably benign |
Het |
| Hrh1 |
T |
C |
6: 114,457,580 (GRCm39) |
V287A |
probably benign |
Het |
| Kmt2a |
T |
C |
9: 44,731,093 (GRCm39) |
|
probably benign |
Het |
| Mak |
A |
T |
13: 41,210,106 (GRCm39) |
D43E |
probably benign |
Het |
| Or14j8 |
A |
G |
17: 38,263,681 (GRCm39) |
I78T |
probably benign |
Het |
| Poln |
A |
G |
5: 34,261,295 (GRCm39) |
S561P |
probably benign |
Het |
| Ptpn11 |
T |
C |
5: 121,275,520 (GRCm39) |
S562G |
probably benign |
Het |
| Pxn |
A |
G |
5: 115,684,966 (GRCm39) |
R264G |
probably damaging |
Het |
| Rell2 |
A |
G |
18: 38,091,267 (GRCm39) |
H144R |
probably benign |
Het |
| Rpgrip1 |
T |
C |
14: 52,389,781 (GRCm39) |
|
probably null |
Het |
| Rufy4 |
T |
C |
1: 74,186,822 (GRCm39) |
C537R |
probably damaging |
Het |
| Slamf9 |
T |
C |
1: 172,303,808 (GRCm39) |
I51T |
probably damaging |
Het |
| Tep1 |
C |
T |
14: 51,081,191 (GRCm39) |
R1349Q |
possibly damaging |
Het |
| Tgtp2 |
T |
C |
11: 48,950,238 (GRCm39) |
I111M |
probably damaging |
Het |
| Trip11 |
G |
A |
12: 101,861,957 (GRCm39) |
Q203* |
probably null |
Het |
| Vmn1r215 |
A |
T |
13: 23,260,163 (GRCm39) |
T68S |
probably benign |
Het |
| Ypel2 |
A |
G |
11: 86,836,753 (GRCm39) |
|
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 |
|
R4125:Cdk19
|
UTSW |
10 |
40,270,391 (GRCm39) |
missense |
probably benign |
0.09 |
|
R4128: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