Incidental Mutation 'IGL00164:Cdk19'
| ID |
1253 |
| 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 # |
IGL00164
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
10 |
| Chromosomal Location |
40225283-40359814 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 40312161 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Asparagine
at position 137
(D137N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000149435
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000044672]
[ENSMUST00000095743]
[ENSMUST00000214659]
[ENSMUST00000215000]
|
| AlphaFold |
Q8BWD8 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000044672
AA Change: D137N
PolyPhen 2
Score 0.103 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000040936
Gene: ENSMUSG00000038481
AA Change: D137N
| 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: D137N
PolyPhen 2
Score 0.103 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000093414
Gene: ENSMUSG00000038481
AA Change: D137N
| 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: D137N
PolyPhen 2
Score 0.136 (Sensitivity: 0.92; Specificity: 0.86)
|
| 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: 30 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2210408I21Rik |
T |
A |
13: 77,471,477 (GRCm39) |
|
probably benign |
Het |
| Abcg4 |
A |
G |
9: 44,186,439 (GRCm39) |
|
probably benign |
Het |
| Actr2 |
A |
G |
11: 20,030,015 (GRCm39) |
|
probably benign |
Het |
| Adgrb3 |
A |
G |
1: 25,267,581 (GRCm39) |
L843P |
probably benign |
Het |
| Cuedc2 |
T |
A |
19: 46,320,359 (GRCm39) |
I71F |
probably damaging |
Het |
| Dag1 |
A |
G |
9: 108,086,487 (GRCm39) |
V218A |
probably damaging |
Het |
| Dlg5 |
A |
C |
14: 24,208,532 (GRCm39) |
S868R |
possibly damaging |
Het |
| Ecsit |
C |
T |
9: 21,984,310 (GRCm39) |
G340D |
probably benign |
Het |
| Fkbp8 |
A |
G |
8: 70,987,211 (GRCm39) |
M358V |
probably damaging |
Het |
| Gckr |
G |
A |
5: 31,456,920 (GRCm39) |
V79M |
probably damaging |
Het |
| Gpd1 |
C |
A |
15: 99,618,532 (GRCm39) |
D172E |
probably benign |
Het |
| Josd2 |
T |
C |
7: 44,120,740 (GRCm39) |
|
probably benign |
Het |
| Kcna2 |
T |
C |
3: 107,011,946 (GRCm39) |
S176P |
probably damaging |
Het |
| Kcnq4 |
G |
A |
4: 120,555,213 (GRCm39) |
Q657* |
probably null |
Het |
| Kif14 |
G |
A |
1: 136,396,756 (GRCm39) |
S354N |
probably benign |
Het |
| Notch1 |
G |
A |
2: 26,350,058 (GRCm39) |
R2361W |
probably damaging |
Het |
| Or5w1 |
T |
C |
2: 87,486,582 (GRCm39) |
M228V |
probably benign |
Het |
| Palb2 |
A |
C |
7: 121,720,271 (GRCm39) |
|
probably benign |
Het |
| Pan2 |
C |
T |
10: 128,148,795 (GRCm39) |
Q452* |
probably null |
Het |
| Pcnx1 |
T |
C |
12: 81,941,875 (GRCm39) |
V91A |
probably damaging |
Het |
| Rgs22 |
T |
A |
15: 36,100,077 (GRCm39) |
I213F |
possibly damaging |
Het |
| Serpina3b |
G |
T |
12: 104,105,046 (GRCm39) |
W407C |
probably benign |
Het |
| Sf3b2 |
T |
C |
19: 5,329,615 (GRCm39) |
D687G |
probably benign |
Het |
| Slc8a3 |
T |
C |
12: 81,361,343 (GRCm39) |
E492G |
probably benign |
Het |
| Sox4 |
C |
A |
13: 29,136,956 (GRCm39) |
G17W |
probably damaging |
Het |
| Sp2 |
C |
T |
11: 96,845,387 (GRCm39) |
R578H |
probably damaging |
Het |
| Surf1 |
C |
T |
2: 26,803,584 (GRCm39) |
|
probably null |
Het |
| Tmem190 |
T |
C |
7: 4,785,998 (GRCm39) |
|
probably benign |
Het |
| Zfhx2 |
A |
G |
14: 55,302,483 (GRCm39) |
S1834P |
possibly damaging |
Het |
| Zfp607a |
G |
A |
7: 27,577,214 (GRCm39) |
E95K |
possibly damaging |
Het |
|
| Other mutations in Cdk19 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
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 |
|
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 |
2011-07-12 |
Incidental Mutation