Incidental Mutation 'R8324:Cdkl3'
| ID |
644001 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cdkl3
|
| Ensembl Gene |
ENSMUSG00000020389 |
| Gene Name |
cyclin-dependent kinase-like 3 |
| Synonyms |
B230379H01Rik |
| MMRRC Submission |
067725-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.872)
|
| Stock # |
R8324 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
11 |
| Chromosomal Location |
52004221-52089784 bp(+) (GRCm38) |
| Type of Mutation |
critical splice donor site (2 bp from exon) |
| DNA Base Change (assembly) |
T to A
at 52022879 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000104708
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000063303]
[ENSMUST00000063321]
[ENSMUST00000109076]
[ENSMUST00000109077]
[ENSMUST00000109078]
[ENSMUST00000109079]
[ENSMUST00000109080]
[ENSMUST00000109081]
[ENSMUST00000120374]
[ENSMUST00000121591]
[ENSMUST00000128853]
[ENSMUST00000135076]
[ENSMUST00000143228]
|
| AlphaFold |
Q8BLF2 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000063303
|
| SMART Domains |
Protein: ENSMUSP00000064315
Gene: ENSMUSG00000020389
| 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 null
Transcript: ENSMUST00000063321
|
| SMART Domains |
Protein: ENSMUSP00000065128
Gene: ENSMUSG00000020389
| 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 null
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 null
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 null
Transcript: ENSMUST00000109078
|
| SMART Domains |
Protein: ENSMUSP00000104706
Gene: ENSMUSG00000020389
| 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 null
Transcript: ENSMUST00000109079
|
| SMART Domains |
Protein: ENSMUSP00000104707
Gene: ENSMUSG00000020389
| 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 null
Transcript: ENSMUST00000109080
|
| SMART Domains |
Protein: ENSMUSP00000104708
Gene: ENSMUSG00000020389
| 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 null
Transcript: ENSMUST00000109081
|
| SMART Domains |
Protein: ENSMUSP00000104709
Gene: ENSMUSG00000020389
| 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 null
Transcript: ENSMUST00000120374
|
| SMART Domains |
Protein: ENSMUSP00000113303
Gene: ENSMUSG00000020389
| 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 null
Transcript: ENSMUST00000121591
|
| SMART Domains |
Protein: ENSMUSP00000112477
Gene: ENSMUSG00000020389
| 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 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: ENSMUST00000135076
|
| SMART Domains |
Protein: ENSMUSP00000117983
Gene: ENSMUSG00000020389
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Pkinase
|
4 |
192 |
5.6e-65 |
PFAM |
|
Pfam:Pkinase_Tyr
|
4 |
192 |
7.3e-37 |
PFAM |
|
Pfam:Kinase-like
|
49 |
192 |
3.2e-9 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000143228
|
| SMART Domains |
Protein: ENSMUSP00000123279
Gene: ENSMUSG00000020389
| 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 benign
Transcript: ENSMUST00000147874
|
| SMART Domains |
Protein: ENSMUSP00000119505
Gene: ENSMUSG00000020389
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:S_TKc
|
2 |
36 |
5e-7 |
BLAST |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.6%
|
| Validation Efficiency |
|
| 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: 70 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca13 |
T |
C |
11: 9,290,395 (GRCm38) |
S753P |
probably damaging |
Het |
| Acan |
A |
G |
7: 79,091,056 (GRCm38) |
E390G |
probably damaging |
Het |
| Antxr2 |
T |
C |
5: 97,938,509 (GRCm38) |
N413S |
probably damaging |
Het |
| Bace2 |
C |
T |
16: 97,356,908 (GRCm38) |
A36V |
possibly damaging |
Het |
| Caprin1 |
G |
A |
2: 103,783,181 (GRCm38) |
R79* |
probably null |
Het |
| Cdan1 |
A |
G |
2: 120,727,325 (GRCm38) |
V507A |
probably benign |
Het |
| Chst5 |
A |
T |
8: 111,890,508 (GRCm38) |
L160Q |
probably benign |
Het |
| Col11a1 |
C |
G |
3: 114,164,410 (GRCm38) |
P1111R |
probably damaging |
Het |
| Col6a6 |
T |
A |
9: 105,755,654 (GRCm38) |
E1470D |
probably benign |
Het |
| Cpped1 |
T |
A |
16: 11,805,476 (GRCm38) |
T274S |
probably benign |
Het |
| Ctnnbl1 |
G |
A |
2: 157,779,815 (GRCm38) |
E75K |
probably damaging |
Het |
| Cyp4f40 |
T |
C |
17: 32,659,528 (GRCm38) |
S15P |
probably benign |
Het |
| Ddx46 |
T |
C |
13: 55,663,914 (GRCm38) |
S643P |
probably damaging |
Het |
| Defb34 |
A |
G |
8: 19,123,798 (GRCm38) |
Q16R |
probably null |
Het |
| Dhrs2 |
T |
A |
14: 55,238,764 (GRCm38) |
V147E |
probably damaging |
Het |
| Dnah5 |
G |
T |
15: 28,346,865 (GRCm38) |
R2498L |
probably damaging |
Het |
| Dpp10 |
T |
A |
1: 123,854,172 (GRCm38) |
I93F |
probably benign |
Het |
| Eef1e1 |
T |
A |
13: 38,655,069 (GRCm38) |
D104V |
probably damaging |
Het |
| Egfr |
A |
C |
11: 16,908,885 (GRCm38) |
I955L |
probably damaging |
Het |
| Egfr |
A |
G |
11: 16,858,971 (GRCm38) |
Y55C |
probably damaging |
Het |
| Ehbp1l1 |
C |
A |
19: 5,719,998 (GRCm38) |
V426F |
possibly damaging |
Het |
| Fam234a |
C |
T |
17: 26,218,698 (GRCm38) |
V108I |
probably benign |
Het |
| Fzd8 |
T |
A |
18: 9,214,688 (GRCm38) |
M590K |
probably damaging |
Het |
| Gm13287 |
T |
C |
4: 88,803,638 (GRCm38) |
S129P |
probably damaging |
Het |
| Heatr5b |
A |
G |
17: 78,755,364 (GRCm38) |
S1919P |
possibly damaging |
Het |
| Hspg2 |
C |
G |
4: 137,518,979 (GRCm38) |
P1023A |
possibly damaging |
Het |
| Ikbkap |
C |
T |
4: 56,772,491 (GRCm38) |
E877K |
probably damaging |
Het |
| Itpr2 |
T |
C |
6: 146,328,398 (GRCm38) |
E1233G |
probably damaging |
Het |
| Kcnmb4 |
A |
G |
10: 116,418,314 (GRCm38) |
L186P |
probably damaging |
Het |
| Krt72 |
T |
A |
15: 101,782,145 (GRCm38) |
Y224F |
probably damaging |
Het |
| Loxhd1 |
T |
C |
18: 77,339,579 (GRCm38) |
|
probably null |
Het |
| Lrguk |
A |
G |
6: 34,102,571 (GRCm38) |
T914A |
probably benign |
Het |
| Lrrtm4 |
A |
G |
6: 80,021,991 (GRCm38) |
T129A |
probably damaging |
Het |
| Mmp13 |
A |
T |
9: 7,276,636 (GRCm38) |
I244F |
possibly damaging |
Het |
| Mob1a |
T |
A |
6: 83,329,974 (GRCm38) |
L41Q |
probably damaging |
Het |
| Mtcl1 |
T |
C |
17: 66,436,217 (GRCm38) |
R426G |
probably damaging |
Het |
| Mybbp1a |
T |
C |
11: 72,445,288 (GRCm38) |
|
probably null |
Het |
| Myh9 |
A |
G |
15: 77,788,917 (GRCm38) |
|
probably null |
Het |
| Myo1d |
T |
A |
11: 80,557,521 (GRCm38) |
D926V |
probably damaging |
Het |
| Ncapg |
T |
G |
5: 45,695,668 (GRCm38) |
H825Q |
probably damaging |
Het |
| Olfml1 |
T |
C |
7: 107,590,363 (GRCm38) |
S212P |
probably benign |
Het |
| Olfr656 |
G |
A |
7: 104,618,114 (GRCm38) |
R145H |
probably benign |
Het |
| Pak2 |
T |
C |
16: 32,052,211 (GRCm38) |
N51S |
probably benign |
Het |
| Papln |
T |
C |
12: 83,786,619 (GRCm38) |
Y1132H |
probably damaging |
Het |
| Pax3 |
T |
A |
1: 78,193,789 (GRCm38) |
R134S |
probably damaging |
Het |
| Pdzrn4 |
A |
G |
15: 92,770,937 (GRCm38) |
E990G |
probably damaging |
Het |
| Peak1 |
A |
T |
9: 56,207,476 (GRCm38) |
W1394R |
probably damaging |
Het |
| Pkn2 |
T |
C |
3: 142,829,010 (GRCm38) |
N285D |
probably benign |
Het |
| Pramef12 |
A |
C |
4: 144,395,857 (GRCm38) |
L39R |
probably damaging |
Het |
| Prrc2a |
A |
G |
17: 35,156,984 (GRCm38) |
S897P |
possibly damaging |
Het |
| Rad51 |
A |
G |
2: 119,123,831 (GRCm38) |
T131A |
possibly damaging |
Het |
| Rc3h2 |
T |
A |
2: 37,400,726 (GRCm38) |
T255S |
possibly damaging |
Het |
| Repin1 |
G |
T |
6: 48,597,345 (GRCm38) |
E403* |
probably null |
Het |
| Rictor |
T |
A |
15: 6,745,562 (GRCm38) |
V125E |
probably damaging |
Het |
| Rps6ka5 |
C |
T |
12: 100,558,487 (GRCm38) |
D664N |
possibly damaging |
Het |
| Rreb1 |
T |
A |
13: 37,947,621 (GRCm38) |
W1584R |
probably damaging |
Het |
| Rxra |
T |
C |
2: 27,741,183 (GRCm38) |
I142T |
probably damaging |
Het |
| Sall2 |
T |
C |
14: 52,312,886 (GRCm38) |
T951A |
probably benign |
Het |
| Slc15a2 |
T |
G |
16: 36,759,307 (GRCm38) |
N359T |
probably damaging |
Het |
| Slc23a1 |
C |
T |
18: 35,622,535 (GRCm38) |
G436E |
probably damaging |
Het |
| Slc6a13 |
T |
C |
6: 121,337,414 (GRCm38) |
*603Q |
probably null |
Het |
| Sptb |
T |
C |
12: 76,619,162 (GRCm38) |
D894G |
possibly damaging |
Het |
| Srgn |
A |
G |
10: 62,507,665 (GRCm38) |
L17P |
probably damaging |
Het |
| Tmprss9 |
T |
C |
10: 80,897,371 (GRCm38) |
|
probably null |
Het |
| Trav9n-4 |
T |
C |
14: 53,294,946 (GRCm38) |
F86L |
probably benign |
Het |
| Trp63 |
A |
G |
16: 25,876,734 (GRCm38) |
Y482C |
unknown |
Het |
| Ttc9b |
G |
T |
7: 27,653,969 (GRCm38) |
A15S |
probably damaging |
Het |
| Urb1 |
A |
T |
16: 90,791,190 (GRCm38) |
I410N |
probably damaging |
Het |
| Vmn2r82 |
A |
T |
10: 79,378,893 (GRCm38) |
K237* |
probably null |
Het |
| Wwox |
G |
A |
8: 114,489,005 (GRCm38) |
|
probably null |
Het |
|
| Other mutations in Cdkl3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00425:Cdkl3
|
APN |
11 |
52,029,856 (GRCm38) |
missense |
probably benign |
0.28 |
|
IGL01632:Cdkl3
|
APN |
11 |
52,005,072 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL01768:Cdkl3
|
APN |
11 |
52,025,917 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL01974:Cdkl3
|
APN |
11 |
52,011,237 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL01981:Cdkl3
|
APN |
11 |
52,005,069 (GRCm38) |
missense |
probably benign |
0.43 |
|
IGL02510:Cdkl3
|
APN |
11 |
52,011,270 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0027:Cdkl3
|
UTSW |
11 |
52,032,349 (GRCm38) |
unclassified |
probably benign |
|
|
R0027:Cdkl3
|
UTSW |
11 |
52,032,349 (GRCm38) |
unclassified |
probably benign |
|
|
R0480:Cdkl3
|
UTSW |
11 |
52,005,055 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0499:Cdkl3
|
UTSW |
11 |
52,032,416 (GRCm38) |
missense |
possibly damaging |
0.52 |
|
R0627:Cdkl3
|
UTSW |
11 |
52,011,308 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0848:Cdkl3
|
UTSW |
11 |
52,011,267 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1510:Cdkl3
|
UTSW |
11 |
52,033,514 (GRCm38) |
missense |
possibly damaging |
0.90 |
|
R1558:Cdkl3
|
UTSW |
11 |
52,032,510 (GRCm38) |
missense |
possibly damaging |
0.62 |
|
R2046:Cdkl3
|
UTSW |
11 |
52,026,850 (GRCm38) |
missense |
probably benign |
|
|
R2077:Cdkl3
|
UTSW |
11 |
52,026,839 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R2207:Cdkl3
|
UTSW |
11 |
52,027,193 (GRCm38) |
makesense |
probably null |
|
|
R2271:Cdkl3
|
UTSW |
11 |
52,032,495 (GRCm38) |
missense |
probably benign |
0.07 |
|
R2272:Cdkl3
|
UTSW |
11 |
52,032,495 (GRCm38) |
missense |
probably benign |
0.07 |
|
R4032:Cdkl3
|
UTSW |
11 |
52,011,291 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4839:Cdkl3
|
UTSW |
11 |
52,005,034 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4971:Cdkl3
|
UTSW |
11 |
52,011,168 (GRCm38) |
missense |
possibly damaging |
0.48 |
|
R6541:Cdkl3
|
UTSW |
11 |
52,022,744 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6559:Cdkl3
|
UTSW |
11 |
52,025,869 (GRCm38) |
missense |
probably benign |
0.04 |
|
R7034:Cdkl3
|
UTSW |
11 |
52,027,215 (GRCm38) |
missense |
probably benign |
0.00 |
|
R7068:Cdkl3
|
UTSW |
11 |
52,011,327 (GRCm38) |
critical splice donor site |
probably null |
|
|
R7406:Cdkl3
|
UTSW |
11 |
52,033,542 (GRCm38) |
missense |
probably benign |
0.11 |
|
R7658:Cdkl3
|
UTSW |
11 |
52,027,182 (GRCm38) |
missense |
not run |
|
|
R7870:Cdkl3
|
UTSW |
11 |
52,018,457 (GRCm38) |
critical splice donor site |
probably null |
|
|
R8331:Cdkl3
|
UTSW |
11 |
52,026,877 (GRCm38) |
missense |
probably benign |
0.04 |
|
R8349:Cdkl3
|
UTSW |
11 |
52,084,433 (GRCm38) |
missense |
|
|
|
R8449:Cdkl3
|
UTSW |
11 |
52,084,433 (GRCm38) |
missense |
|
|
|
R8806:Cdkl3
|
UTSW |
11 |
52,032,468 (GRCm38) |
missense |
possibly damaging |
0.66 |
|
R9262:Cdkl3
|
UTSW |
11 |
52,025,875 (GRCm38) |
missense |
probably benign |
0.21 |
|
R9360:Cdkl3
|
UTSW |
11 |
52,033,522 (GRCm38) |
missense |
probably null |
0.00 |
|
R9385:Cdkl3
|
UTSW |
11 |
52,035,952 (GRCm38) |
missense |
probably benign |
0.01 |
|
R9623:Cdkl3
|
UTSW |
11 |
52,004,989 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9729:Cdkl3
|
UTSW |
11 |
52,004,943 (GRCm38) |
missense |
probably benign |
0.44 |
|
| Predicted Primers |
PCR Primer
(F):5'- TCTCCACAGTGATAACAGAGCTAAC -3'
(R):5'- AGGGGTCTTTCTGGAATCTCTCC -3'
Sequencing Primer
(F):5'- CAGAGCTAACCACATGGGATTTTGTC -3'
(R):5'- GGGTTCCATCTCTAACACC -3'
|
| Posted On |
2020-09-02 |
Incidental Mutation