Incidental Mutation 'R2077:Cdkl3'
| ID |
229225 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cdkl3
|
| Ensembl Gene |
ENSMUSG00000020389 |
| Gene Name |
cyclin dependent kinase like 3 |
| Synonyms |
B230379H01Rik |
| MMRRC Submission |
040082-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.863)
|
| Stock # |
R2077 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
51895048-51980611 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 51917666 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Valine
at position 321
(E321V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000123279
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000063303]
[ENSMUST00000063321]
[ENSMUST00000109076]
[ENSMUST00000109077]
[ENSMUST00000109078]
[ENSMUST00000109079]
[ENSMUST00000109080]
[ENSMUST00000120374]
[ENSMUST00000143228]
[ENSMUST00000121591]
[ENSMUST00000109081]
[ENSMUST00000128853]
|
| AlphaFold |
Q8BLF2 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000063303
AA Change: E321V
PolyPhen 2
Score 0.961 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000064315
Gene: ENSMUSG00000020389
AA Change: E321V
| Domain | Start | End | E-Value | Type |
|---|
|
S_TKc
|
4 |
286 |
2.27e-95 |
SMART |
|
Blast:S_TKc
|
361 |
477 |
1e-18 |
BLAST |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000063321
AA Change: E321V
PolyPhen 2
Score 0.961 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000065128
Gene: ENSMUSG00000020389
AA Change: E321V
| Domain | Start | End | E-Value | Type |
|---|
|
S_TKc
|
4 |
286 |
2.27e-95 |
SMART |
|
Blast:S_TKc
|
361 |
477 |
9e-19 |
BLAST |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000109076
|
| SMART Domains |
Protein: ENSMUSP00000104704
Gene: ENSMUSG00000020389
| Domain | Start | End | E-Value | Type |
|---|
|
S_TKc
|
4 |
286 |
2.27e-95 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000109077
|
| SMART Domains |
Protein: ENSMUSP00000104705
Gene: ENSMUSG00000020389
| Domain | Start | End | E-Value | Type |
|---|
|
S_TKc
|
4 |
286 |
2.27e-95 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000109078
AA Change: E321V
PolyPhen 2
Score 0.961 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000104706
Gene: ENSMUSG00000020389
AA Change: E321V
| Domain | Start | End | E-Value | Type |
|---|
|
S_TKc
|
4 |
286 |
2.27e-95 |
SMART |
|
Blast:S_TKc
|
361 |
457 |
8e-14 |
BLAST |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000109079
AA Change: E321V
PolyPhen 2
Score 0.961 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000104707
Gene: ENSMUSG00000020389
AA Change: E321V
| Domain | Start | End | E-Value | Type |
|---|
|
S_TKc
|
4 |
286 |
2.27e-95 |
SMART |
|
Blast:S_TKc
|
361 |
477 |
9e-19 |
BLAST |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000109080
AA Change: E321V
PolyPhen 2
Score 0.468 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000104708
Gene: ENSMUSG00000020389
AA Change: E321V
| Domain | Start | End | E-Value | Type |
|---|
|
S_TKc
|
4 |
286 |
2.27e-95 |
SMART |
|
Blast:S_TKc
|
361 |
477 |
1e-18 |
BLAST |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000120374
AA Change: E321V
PolyPhen 2
Score 0.468 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000113303
Gene: ENSMUSG00000020389
AA Change: E321V
| Domain | Start | End | E-Value | Type |
|---|
|
S_TKc
|
4 |
286 |
2.27e-95 |
SMART |
|
Blast:S_TKc
|
361 |
477 |
1e-18 |
BLAST |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000143228
AA Change: E321V
PolyPhen 2
Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000123279
Gene: ENSMUSG00000020389
AA Change: E321V
| Domain | Start | End | E-Value | Type |
|---|
|
S_TKc
|
4 |
286 |
2.27e-95 |
SMART |
|
Blast:S_TKc
|
361 |
477 |
1e-18 |
BLAST |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000121591
AA Change: E321V
PolyPhen 2
Score 0.961 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000112477
Gene: ENSMUSG00000020389
AA Change: E321V
| Domain | Start | End | E-Value | Type |
|---|
|
S_TKc
|
4 |
286 |
2.27e-95 |
SMART |
|
Blast:S_TKc
|
361 |
477 |
1e-18 |
BLAST |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000109081
AA Change: E321V
PolyPhen 2
Score 0.961 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000104709
Gene: ENSMUSG00000020389
AA Change: E321V
| Domain | Start | End | E-Value | Type |
|---|
|
S_TKc
|
4 |
286 |
2.27e-95 |
SMART |
|
Blast:S_TKc
|
361 |
477 |
1e-18 |
BLAST |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000181262
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000128853
|
| SMART Domains |
Protein: ENSMUSP00000121945
Gene: ENSMUSG00000020389
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:S_TKc
|
1 |
110 |
2e-15 |
BLAST |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000147874
|
| SMART Domains |
Protein: ENSMUSP00000119505
Gene: ENSMUSG00000020389
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:S_TKc
|
2 |
36 |
5e-7 |
BLAST |
|
| Meta Mutation Damage Score |
0.1052 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.0%
|
| Validation Efficiency |
98% (48/49) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a member of cyclin-dependent protein kinase (CDK) family. CDK family members are highly similar to the gene products of Saccharomyces cerevisiae cdc28, and Schizosaccharomyces pombe cdc2, and are known to be important regulators of cell cycle progression. This gene was identified as a gene absent in leukemic patients with chromosome 5q deletion. This loss may be an important determinant of dysmyelopoiesis. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 49 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aadacl3 |
T |
A |
4: 144,183,604 (GRCm39) |
|
probably benign |
Het |
| Abhd16b |
A |
C |
2: 181,135,209 (GRCm39) |
D37A |
probably benign |
Het |
| Acp7 |
T |
C |
7: 28,328,907 (GRCm39) |
E91G |
probably damaging |
Het |
| Alms1 |
T |
A |
6: 85,599,291 (GRCm39) |
N1841K |
possibly damaging |
Het |
| Arhgap25 |
T |
A |
6: 87,436,990 (GRCm39) |
D620V |
probably damaging |
Het |
| Caps2 |
C |
T |
10: 112,035,632 (GRCm39) |
T371I |
possibly damaging |
Het |
| Ccdc175 |
A |
G |
12: 72,186,794 (GRCm39) |
I350T |
possibly damaging |
Het |
| Cdc25c |
G |
C |
18: 34,871,292 (GRCm39) |
L275V |
probably damaging |
Het |
| Cdc42bpb |
A |
G |
12: 111,265,630 (GRCm39) |
L1434P |
probably damaging |
Het |
| Clec2d |
G |
T |
6: 129,160,153 (GRCm39) |
V56L |
possibly damaging |
Het |
| Cops3 |
A |
T |
11: 59,715,136 (GRCm39) |
S301T |
possibly damaging |
Het |
| Crygd |
T |
C |
1: 65,102,405 (GRCm39) |
D19G |
probably damaging |
Het |
| Dnah2 |
T |
C |
11: 69,387,432 (GRCm39) |
I931M |
possibly damaging |
Het |
| Dst |
A |
T |
1: 34,250,251 (GRCm39) |
R4068S |
probably damaging |
Het |
| Fas |
C |
T |
19: 34,297,953 (GRCm39) |
|
probably benign |
Het |
| G6pd2 |
T |
A |
5: 61,967,594 (GRCm39) |
D456E |
probably damaging |
Het |
| Galnt18 |
G |
A |
7: 111,153,809 (GRCm39) |
R272W |
probably damaging |
Het |
| Grb2 |
C |
A |
11: 115,536,651 (GRCm39) |
G200W |
probably damaging |
Het |
| Herc4 |
A |
G |
10: 63,099,832 (GRCm39) |
N85S |
probably benign |
Het |
| Ighv7-2 |
T |
C |
12: 113,875,727 (GRCm39) |
D92G |
probably damaging |
Het |
| Itih3 |
A |
G |
14: 30,631,792 (GRCm39) |
V765A |
possibly damaging |
Het |
| Itm2b |
T |
C |
14: 73,600,560 (GRCm39) |
N247D |
probably benign |
Het |
| Kcnd3 |
T |
C |
3: 105,574,315 (GRCm39) |
V500A |
probably benign |
Het |
| Lrp2 |
C |
T |
2: 69,338,187 (GRCm39) |
G1198R |
probably damaging |
Het |
| Ltb4r2 |
A |
G |
14: 55,999,444 (GRCm39) |
T22A |
probably damaging |
Het |
| Mdga2 |
A |
G |
12: 66,702,136 (GRCm39) |
V355A |
probably damaging |
Het |
| Megf8 |
T |
A |
7: 25,053,163 (GRCm39) |
V1778E |
probably benign |
Het |
| Mroh2b |
G |
A |
15: 4,974,448 (GRCm39) |
E1143K |
probably damaging |
Het |
| Nbn |
A |
T |
4: 15,979,389 (GRCm39) |
Y458F |
probably damaging |
Het |
| Nlrc3 |
A |
G |
16: 3,781,856 (GRCm39) |
C534R |
probably benign |
Het |
| Nup155 |
A |
G |
15: 8,172,510 (GRCm39) |
E832G |
probably damaging |
Het |
| Or5w11 |
A |
G |
2: 87,459,173 (GRCm39) |
Y122C |
probably damaging |
Het |
| Plcl2 |
A |
G |
17: 50,913,857 (GRCm39) |
T289A |
probably benign |
Het |
| Ptprs |
C |
T |
17: 56,741,990 (GRCm39) |
R7Q |
probably null |
Het |
| Rab3ip |
A |
T |
10: 116,754,865 (GRCm39) |
D198E |
possibly damaging |
Het |
| Scaf4 |
A |
T |
16: 90,049,323 (GRCm39) |
F255I |
unknown |
Het |
| Senp6 |
T |
C |
9: 80,033,437 (GRCm39) |
S475P |
probably benign |
Het |
| Shpk |
T |
C |
11: 73,094,785 (GRCm39) |
L67P |
probably damaging |
Het |
| Sik3 |
T |
A |
9: 46,130,801 (GRCm39) |
Y1246N |
probably damaging |
Het |
| Slc44a2 |
A |
G |
9: 21,265,020 (GRCm39) |
Y686C |
probably damaging |
Het |
| Slc6a19 |
A |
G |
13: 73,848,685 (GRCm39) |
V23A |
probably benign |
Het |
| Slit3 |
A |
T |
11: 35,435,575 (GRCm39) |
I169F |
possibly damaging |
Het |
| Stxbp5l |
A |
G |
16: 37,056,637 (GRCm39) |
V379A |
possibly damaging |
Het |
| Tex2 |
T |
C |
11: 106,397,690 (GRCm39) |
|
probably null |
Het |
| Tnpo3 |
A |
G |
6: 29,586,143 (GRCm39) |
V149A |
possibly damaging |
Het |
| Vmn1r158 |
T |
A |
7: 22,489,815 (GRCm39) |
R131S |
probably benign |
Het |
| Vmn2r24 |
T |
A |
6: 123,792,358 (GRCm39) |
C562S |
probably damaging |
Het |
| Wipi1 |
T |
C |
11: 109,468,490 (GRCm39) |
N368S |
probably benign |
Het |
| Zbtb41 |
T |
C |
1: 139,351,831 (GRCm39) |
S315P |
probably damaging |
Het |
|
| Other mutations in Cdkl3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00425:Cdkl3
|
APN |
11 |
51,920,683 (GRCm39) |
missense |
probably benign |
0.28 |
|
IGL01632:Cdkl3
|
APN |
11 |
51,895,899 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01768:Cdkl3
|
APN |
11 |
51,916,744 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01974:Cdkl3
|
APN |
11 |
51,902,064 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01981:Cdkl3
|
APN |
11 |
51,895,896 (GRCm39) |
missense |
probably benign |
0.43 |
|
IGL02510:Cdkl3
|
APN |
11 |
51,902,097 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0027:Cdkl3
|
UTSW |
11 |
51,923,176 (GRCm39) |
unclassified |
probably benign |
|
|
R0027:Cdkl3
|
UTSW |
11 |
51,923,176 (GRCm39) |
unclassified |
probably benign |
|
|
R0480:Cdkl3
|
UTSW |
11 |
51,895,882 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0499:Cdkl3
|
UTSW |
11 |
51,923,243 (GRCm39) |
missense |
possibly damaging |
0.52 |
|
R0627:Cdkl3
|
UTSW |
11 |
51,902,135 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0848:Cdkl3
|
UTSW |
11 |
51,902,094 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1510:Cdkl3
|
UTSW |
11 |
51,924,341 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R1558:Cdkl3
|
UTSW |
11 |
51,923,337 (GRCm39) |
missense |
possibly damaging |
0.62 |
|
R2046:Cdkl3
|
UTSW |
11 |
51,917,677 (GRCm39) |
missense |
probably benign |
|
|
R2207:Cdkl3
|
UTSW |
11 |
51,918,020 (GRCm39) |
makesense |
probably null |
|
|
R2271:Cdkl3
|
UTSW |
11 |
51,923,322 (GRCm39) |
missense |
probably benign |
0.07 |
|
R2272:Cdkl3
|
UTSW |
11 |
51,923,322 (GRCm39) |
missense |
probably benign |
0.07 |
|
R4032:Cdkl3
|
UTSW |
11 |
51,902,118 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4839:Cdkl3
|
UTSW |
11 |
51,895,861 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4971:Cdkl3
|
UTSW |
11 |
51,901,995 (GRCm39) |
missense |
possibly damaging |
0.48 |
|
R6541:Cdkl3
|
UTSW |
11 |
51,913,571 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6559:Cdkl3
|
UTSW |
11 |
51,916,696 (GRCm39) |
missense |
probably benign |
0.04 |
|
R7034:Cdkl3
|
UTSW |
11 |
51,918,042 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7068:Cdkl3
|
UTSW |
11 |
51,902,154 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7406:Cdkl3
|
UTSW |
11 |
51,924,369 (GRCm39) |
missense |
probably benign |
0.11 |
|
R7658:Cdkl3
|
UTSW |
11 |
51,918,009 (GRCm39) |
missense |
not run |
|
|
R7870:Cdkl3
|
UTSW |
11 |
51,909,284 (GRCm39) |
critical splice donor site |
probably null |
|
|
R8324:Cdkl3
|
UTSW |
11 |
51,913,706 (GRCm39) |
critical splice donor site |
probably null |
|
|
R8331:Cdkl3
|
UTSW |
11 |
51,917,704 (GRCm39) |
missense |
probably benign |
0.04 |
|
R8349:Cdkl3
|
UTSW |
11 |
51,975,260 (GRCm39) |
missense |
|
|
|
R8449:Cdkl3
|
UTSW |
11 |
51,975,260 (GRCm39) |
missense |
|
|
|
R8806:Cdkl3
|
UTSW |
11 |
51,923,295 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
R9262:Cdkl3
|
UTSW |
11 |
51,916,702 (GRCm39) |
missense |
probably benign |
0.21 |
|
R9360:Cdkl3
|
UTSW |
11 |
51,924,349 (GRCm39) |
missense |
probably null |
0.00 |
|
R9385:Cdkl3
|
UTSW |
11 |
51,926,779 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9623:Cdkl3
|
UTSW |
11 |
51,895,816 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9729:Cdkl3
|
UTSW |
11 |
51,895,770 (GRCm39) |
missense |
probably benign |
0.44 |
|
| Predicted Primers |
PCR Primer
(F):5'- TTGGCACCAGTTACTATTATACAGC -3'
(R):5'- CTGACTTTGAGCTCCTTGGC -3'
Sequencing Primer
(F):5'- CATCTTAATGCTTGATTGAATGCTTC -3'
(R):5'- TCTGTCCACTTCCTAGAAGAGG -3'
|
| Posted On |
2014-09-17 |
Incidental Mutation