Incidental Mutation 'R3828:Cdk19'
| ID |
273853 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cdk19
|
| Ensembl Gene |
ENSMUSG00000038481 |
| Gene Name |
cyclin dependent kinase 19 |
| Synonyms |
Cdc2l6, 2700084L06Rik |
| MMRRC Submission |
040886-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R3828 (G1)
|
| Quality Score |
215 |
|
Status
|
Validated
|
| Chromosome |
10 |
| Chromosomal Location |
40225283-40359814 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 40351609 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 258
(V258A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000093414
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000044672]
[ENSMUST00000095743]
[ENSMUST00000214659]
[ENSMUST00000215000]
|
| AlphaFold |
Q8BWD8 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000044672
AA Change: V302A
PolyPhen 2
Score 0.961 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000040936
Gene: ENSMUSG00000038481
AA Change: V302A
| 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 damaging
Transcript: ENSMUST00000095743
AA Change: V258A
PolyPhen 2
Score 0.961 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000093414
Gene: ENSMUSG00000038481
AA Change: V258A
| 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
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000215000
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000216736
|
| Meta Mutation Damage Score |
0.3707 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.5%
|
| Validation Efficiency |
100% (34/34) |
| 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: 33 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Camk2b |
A |
G |
11: 5,978,932 (GRCm39) |
V32A |
probably damaging |
Het |
| Cbr2 |
A |
T |
11: 120,621,278 (GRCm39) |
H140Q |
probably benign |
Het |
| Cep104 |
T |
G |
4: 154,069,400 (GRCm39) |
M207R |
probably damaging |
Het |
| Chd2 |
A |
G |
7: 73,141,163 (GRCm39) |
Y577H |
possibly damaging |
Het |
| Col4a1 |
C |
A |
8: 11,259,650 (GRCm39) |
G1341V |
probably damaging |
Het |
| Commd9 |
C |
A |
2: 101,727,486 (GRCm39) |
N93K |
probably benign |
Het |
| Cplane2 |
C |
T |
4: 140,945,900 (GRCm39) |
R148C |
probably damaging |
Het |
| Cx3cl1 |
A |
T |
8: 95,503,934 (GRCm39) |
|
probably benign |
Het |
| Cxcr6 |
A |
T |
9: 123,639,934 (GRCm39) |
M319L |
probably benign |
Het |
| Dlg5 |
T |
A |
14: 24,196,226 (GRCm39) |
K1308I |
probably damaging |
Het |
| Dnah17 |
G |
A |
11: 117,931,984 (GRCm39) |
|
probably benign |
Het |
| Ffar2 |
A |
T |
7: 30,519,510 (GRCm39) |
I10N |
possibly damaging |
Het |
| Gm17521 |
C |
A |
X: 121,938,922 (GRCm39) |
G149C |
unknown |
Het |
| Gm5862 |
T |
G |
5: 26,224,345 (GRCm39) |
H208P |
probably benign |
Het |
| Gpat4 |
G |
A |
8: 23,670,171 (GRCm39) |
P286L |
probably damaging |
Het |
| Ino80d |
A |
T |
1: 63,101,237 (GRCm39) |
M463K |
possibly damaging |
Het |
| Lrp2 |
G |
A |
2: 69,256,356 (GRCm39) |
P4595S |
probably benign |
Het |
| Mark4 |
A |
G |
7: 19,177,112 (GRCm39) |
I239T |
possibly damaging |
Het |
| Mcoln1 |
C |
T |
8: 3,550,601 (GRCm39) |
A2V |
possibly damaging |
Het |
| Mcts1 |
T |
C |
X: 37,691,445 (GRCm39) |
|
probably benign |
Het |
| Mrgprb5 |
T |
A |
7: 47,817,839 (GRCm39) |
M299L |
probably benign |
Het |
| Ncapg2 |
A |
T |
12: 116,370,938 (GRCm39) |
|
probably benign |
Het |
| Or56a3 |
A |
G |
7: 104,735,504 (GRCm39) |
N194D |
probably benign |
Het |
| Pcdhga4 |
G |
T |
18: 37,820,654 (GRCm39) |
L734F |
possibly damaging |
Het |
| Rrm2 |
G |
T |
12: 24,758,598 (GRCm39) |
A47S |
probably benign |
Het |
| Rsph6a |
T |
C |
7: 18,791,539 (GRCm39) |
L236P |
probably damaging |
Het |
| Rtkn2 |
A |
T |
10: 67,833,456 (GRCm39) |
|
probably null |
Het |
| Stk11 |
T |
C |
10: 79,963,782 (GRCm39) |
|
probably null |
Het |
| Syt14 |
T |
C |
1: 192,584,083 (GRCm39) |
N444S |
probably damaging |
Het |
| Tmem59l |
A |
G |
8: 70,939,951 (GRCm39) |
L6S |
unknown |
Het |
| Tnks |
A |
G |
8: 35,340,332 (GRCm39) |
F429L |
probably damaging |
Het |
| Usp15 |
T |
A |
10: 123,032,775 (GRCm39) |
I16F |
possibly damaging |
Het |
| Vps50 |
T |
C |
6: 3,533,500 (GRCm39) |
I244T |
probably benign |
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 |
|
|
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 |
|
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'- TGTCAGCAGTGAGTAACGG -3'
(R):5'- TCCTGAAATTACCAATTAGGCCCC -3'
Sequencing Primer
(F):5'- AACGGTGAGTGAGTGTCTGCAC -3'
(R):5'- AGGCCCCTTAAAATTCTTTTCTGAC -3'
|
| Posted On |
2015-04-02 |
Incidental Mutation