Incidental Mutation 'IGL03380:Cdk19'
ID |
420640 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Cdk19
|
Ensembl Gene |
ENSMUSG00000038481 |
Gene Name |
cyclin dependent kinase 19 |
Synonyms |
Cdc2l6, 2700084L06Rik |
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
IGL03380
|
Quality Score |
|
Status
|
|
Chromosome |
10 |
Chromosomal Location |
40225283-40359814 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 40352908 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Proline to Leucine
at position 308
(P308L)
|
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: P352L
PolyPhen 2
Score 0.416 (Sensitivity: 0.89; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000040936 Gene: ENSMUSG00000038481 AA Change: P352L
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: P308L
PolyPhen 2
Score 0.416 (Sensitivity: 0.89; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000093414 Gene: ENSMUSG00000038481 AA Change: P308L
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
|
Coding Region Coverage |
|
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: 38 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca13 |
A |
G |
11: 9,248,574 (GRCm39) |
N2774D |
probably benign |
Het |
Aldh1a2 |
T |
G |
9: 71,162,399 (GRCm39) |
Y149* |
probably null |
Het |
Ank2 |
C |
A |
3: 126,749,519 (GRCm39) |
E503D |
probably damaging |
Het |
Arhgap23 |
A |
G |
11: 97,343,344 (GRCm39) |
D542G |
probably damaging |
Het |
Atp8a1 |
T |
C |
5: 67,889,529 (GRCm39) |
E582G |
probably benign |
Het |
C4b |
A |
T |
17: 34,959,260 (GRCm39) |
V438D |
probably benign |
Het |
Caps2 |
A |
G |
10: 112,036,601 (GRCm39) |
E345G |
probably benign |
Het |
Drc3 |
A |
G |
11: 60,268,731 (GRCm39) |
E307G |
probably benign |
Het |
Dst |
G |
A |
1: 34,296,881 (GRCm39) |
A1041T |
probably damaging |
Het |
Elp2 |
T |
C |
18: 24,755,537 (GRCm39) |
V428A |
probably benign |
Het |
Eml5 |
G |
T |
12: 98,840,906 (GRCm39) |
|
probably benign |
Het |
Fam120b |
G |
A |
17: 15,623,396 (GRCm39) |
|
probably benign |
Het |
Fpr-rs6 |
G |
A |
17: 20,403,245 (GRCm39) |
L39F |
possibly damaging |
Het |
Fsd1 |
T |
C |
17: 56,302,456 (GRCm39) |
I300T |
probably benign |
Het |
Hsd17b6 |
T |
C |
10: 127,830,207 (GRCm39) |
|
probably null |
Het |
Hspa1a |
T |
C |
17: 35,189,253 (GRCm39) |
K550R |
probably benign |
Het |
Krba1 |
A |
G |
6: 48,380,387 (GRCm39) |
H37R |
possibly damaging |
Het |
Lama2 |
T |
C |
10: 26,926,261 (GRCm39) |
D2117G |
probably damaging |
Het |
Map4k2 |
T |
C |
19: 6,394,620 (GRCm39) |
F332S |
possibly damaging |
Het |
Mindy1 |
T |
C |
3: 95,198,329 (GRCm39) |
|
probably benign |
Het |
Nhsl1 |
T |
G |
10: 18,399,627 (GRCm39) |
Y284* |
probably null |
Het |
Or5b109 |
T |
A |
19: 13,212,365 (GRCm39) |
F250L |
probably benign |
Het |
Pkhd1 |
T |
A |
1: 20,270,894 (GRCm39) |
T3220S |
probably damaging |
Het |
Pramel7 |
A |
T |
2: 87,321,716 (GRCm39) |
D106E |
probably benign |
Het |
Psme3 |
T |
C |
11: 101,210,852 (GRCm39) |
|
probably null |
Het |
Rsph1 |
T |
C |
17: 31,496,210 (GRCm39) |
E7G |
unknown |
Het |
Slc13a2 |
T |
C |
11: 78,289,908 (GRCm39) |
T469A |
probably benign |
Het |
Slc30a9 |
C |
T |
5: 67,473,054 (GRCm39) |
T46I |
probably benign |
Het |
Slc37a4 |
T |
G |
9: 44,311,320 (GRCm39) |
S204A |
probably benign |
Het |
Slc8b1 |
T |
C |
5: 120,657,800 (GRCm39) |
F88L |
probably damaging |
Het |
Smpd3 |
C |
T |
8: 106,986,291 (GRCm39) |
V504I |
probably benign |
Het |
Tbx4 |
A |
G |
11: 85,805,465 (GRCm39) |
N418S |
probably benign |
Het |
Tmem132c |
A |
G |
5: 127,613,506 (GRCm39) |
T470A |
probably benign |
Het |
Tmem207 |
A |
T |
16: 26,345,407 (GRCm39) |
C20S |
probably damaging |
Het |
Usp43 |
G |
A |
11: 67,766,142 (GRCm39) |
A761V |
possibly damaging |
Het |
Vmn1r191 |
C |
T |
13: 22,363,055 (GRCm39) |
S233N |
probably damaging |
Het |
Vmn2r58 |
T |
A |
7: 41,513,874 (GRCm39) |
E256D |
probably benign |
Het |
Zc3hav1 |
T |
C |
6: 38,313,493 (GRCm39) |
Y184C |
probably damaging |
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 |
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 |
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 |
|
Posted On |
2016-08-02 |