Incidental Mutation 'R3029:Cdk6'
| ID |
265901 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cdk6
|
| Ensembl Gene |
ENSMUSG00000040274 |
| Gene Name |
cyclin dependent kinase 6 |
| Synonyms |
Crk2 |
| MMRRC Submission |
040545-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R3029 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
5 |
| Chromosomal Location |
3391485-3581008 bp(+) (GRCm39) |
| Type of Mutation |
critical splice donor site (1 bp from exon) |
| DNA Base Change (assembly) |
G to A
at 3440817 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000126024
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000042410]
[ENSMUST00000165117]
[ENSMUST00000197385]
|
| AlphaFold |
Q64261 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000042410
|
| SMART Domains |
Protein: ENSMUSP00000037925
Gene: ENSMUSG00000040274
| Domain | Start | End | E-Value | Type |
|---|
|
S_TKc
|
13 |
300 |
4.26e-100 |
SMART |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000165117
|
| SMART Domains |
Protein: ENSMUSP00000126024
Gene: ENSMUSG00000040274
| Domain | Start | End | E-Value | Type |
|---|
|
S_TKc
|
13 |
300 |
4.26e-100 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000197385
|
| SMART Domains |
Protein: ENSMUSP00000143492
Gene: ENSMUSG00000040274
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Pkinase
|
13 |
82 |
2.4e-11 |
PFAM |
|
Pfam:Pkinase_Tyr
|
13 |
82 |
1.3e-5 |
PFAM |
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 97.0%
- 20x: 94.0%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: This gene encodes a member of the cyclin dependent kinase family of proteins that play important roles in the progression and regulation of the cell cycle. The encoded protein binds to a D-type cyclin to form an active kinase complex to regulate progression through the G1 phase of the cell cycle. Mice lacking the encoded protein exhibit thymic and splenic hypoplasia, and hematopoietic defects such as reduced number of megakaryocytes and erythrocytes. A pseudogene of this gene has been defined on chromosome 4. [provided by RefSeq, Aug 2015]
PHENOTYPE: Mice homozygous for disruptions in this gene display hematopoietic abnormalities affecting spleen and thymus size. Female body weight and fertility are also reduced. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 22 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A630001G21Rik |
A |
G |
1: 85,645,966 (GRCm39) |
I213T |
probably benign |
Het |
| Atp8a2 |
CGT |
CGTGT |
14: 59,928,914 (GRCm39) |
|
probably null |
Het |
| Cdh15 |
G |
A |
8: 123,588,763 (GRCm39) |
R279Q |
probably damaging |
Het |
| Cryab |
T |
A |
9: 50,667,638 (GRCm39) |
I124N |
probably damaging |
Het |
| E2f5 |
A |
G |
3: 14,668,725 (GRCm39) |
I206V |
probably benign |
Het |
| Eya4 |
T |
C |
10: 22,999,776 (GRCm39) |
T396A |
probably benign |
Het |
| Fat2 |
T |
C |
11: 55,175,535 (GRCm39) |
Y1726C |
probably damaging |
Het |
| Gad1 |
G |
A |
2: 70,425,034 (GRCm39) |
V443I |
probably benign |
Het |
| H2-M11 |
C |
T |
17: 36,859,042 (GRCm39) |
T194I |
possibly damaging |
Het |
| Ighv7-2 |
A |
G |
12: 113,876,100 (GRCm39) |
F2L |
probably benign |
Het |
| Itgad |
T |
A |
7: 127,777,543 (GRCm39) |
I141N |
possibly damaging |
Het |
| Kcnh1 |
C |
T |
1: 192,188,368 (GRCm39) |
T970M |
probably benign |
Het |
| Mrc2 |
G |
A |
11: 105,239,257 (GRCm39) |
|
probably null |
Het |
| Nlrp1a |
T |
A |
11: 71,014,456 (GRCm39) |
T265S |
probably damaging |
Het |
| Nsun4 |
A |
G |
4: 115,909,922 (GRCm39) |
S213P |
possibly damaging |
Het |
| Pkdrej |
C |
T |
15: 85,701,205 (GRCm39) |
R1577Q |
probably benign |
Het |
| Proz |
A |
T |
8: 13,111,042 (GRCm39) |
I5F |
probably benign |
Het |
| Rbm48 |
A |
T |
5: 3,646,043 (GRCm39) |
F54I |
possibly damaging |
Het |
| Rgs20 |
T |
C |
1: 5,140,276 (GRCm39) |
D42G |
probably benign |
Het |
| Rxfp2 |
A |
C |
5: 149,966,595 (GRCm39) |
D111A |
probably benign |
Het |
| Sparcl1 |
T |
C |
5: 104,241,092 (GRCm39) |
T111A |
possibly damaging |
Het |
| Vmn2r14 |
T |
A |
5: 109,363,776 (GRCm39) |
L713F |
probably damaging |
Het |
|
| Other mutations in Cdk6 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
FR4737:Cdk6
|
UTSW |
5 |
3,394,211 (GRCm39) |
start gained |
probably benign |
|
|
R0583:Cdk6
|
UTSW |
5 |
3,523,183 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1474:Cdk6
|
UTSW |
5 |
3,523,217 (GRCm39) |
missense |
probably benign |
0.23 |
|
R1538:Cdk6
|
UTSW |
5 |
3,570,675 (GRCm39) |
missense |
probably benign |
0.02 |
|
R2104:Cdk6
|
UTSW |
5 |
3,394,387 (GRCm39) |
missense |
probably benign |
0.16 |
|
R4886:Cdk6
|
UTSW |
5 |
3,394,444 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R4939:Cdk6
|
UTSW |
5 |
3,394,377 (GRCm39) |
missense |
probably null |
0.99 |
|
R5421:Cdk6
|
UTSW |
5 |
3,523,120 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5583:Cdk6
|
UTSW |
5 |
3,394,436 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6247:Cdk6
|
UTSW |
5 |
3,394,553 (GRCm39) |
splice site |
probably null |
|
|
R7014:Cdk6
|
UTSW |
5 |
3,523,152 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7102:Cdk6
|
UTSW |
5 |
3,570,709 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7288:Cdk6
|
UTSW |
5 |
3,479,001 (GRCm39) |
missense |
probably benign |
|
|
R8204:Cdk6
|
UTSW |
5 |
3,394,461 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8225:Cdk6
|
UTSW |
5 |
3,440,790 (GRCm39) |
missense |
probably benign |
0.23 |
|
R8261:Cdk6
|
UTSW |
5 |
3,440,685 (GRCm39) |
missense |
probably benign |
0.02 |
|
Z1176:Cdk6
|
UTSW |
5 |
3,440,694 (GRCm39) |
missense |
possibly damaging |
0.62 |
|
| Predicted Primers |
PCR Primer
(F):5'- CGCATGCGTTACTACTTGAC -3'
(R):5'- GGACTACAACCCCACTCTTTG -3'
Sequencing Primer
(F):5'- GCATGCGTTACTACTTGACTTATTTC -3'
(R):5'- CTTTGAAGATCCCACTTAACAGAGG -3'
|
| Posted On |
2015-02-05 |
Incidental Mutation