Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01632:Cdkl3'

93505

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Cdkl3

Ensembl Gene

ENSMUSG00000020389

Gene Name

cyclin dependent kinase like 3

Synonyms

B230379H01Rik

Accession Numbers

Essential gene?

Probably essential (E-score: 0.823) question?

Stock #

IGL01632

Quality Score

Status

Chromosome

Chromosomal Location

51895048-51980611 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 51895899 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Glycine at position 49 (R49G)

Ref Sequence

ENSEMBL: ENSMUSP00000123279 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000020657] [ENSMUST00000063303] [ENSMUST00000063321] [ENSMUST00000109076] [ENSMUST00000109077] [ENSMUST00000109078] [ENSMUST00000109079] [ENSMUST00000120374] [ENSMUST00000109081] [ENSMUST00000121591] [ENSMUST00000109080] [ENSMUST00000135076] [ENSMUST00000143228] [ENSMUST00000109086]

AlphaFold

Q8BLF2

Predicted Effect

probably benign
Transcript: ENSMUST00000020657

SMART Domains

Protein: ENSMUSP00000020657
Gene: ENSMUSG00000020390

Domain	Start	End	E-Value	Type
UBCc	7	150	3.01e-72	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000063303
AA Change: R49G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000064315
Gene: ENSMUSG00000020389
AA Change: R49G

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: R49G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000065128
Gene: ENSMUSG00000020389
AA Change: R49G

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 damaging
Transcript: ENSMUST00000109076
AA Change: R49G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000104704
Gene: ENSMUSG00000020389
AA Change: R49G

Domain	Start	End	E-Value	Type
S_TKc	4	286	2.27e-95	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000109077
AA Change: R49G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000104705
Gene: ENSMUSG00000020389
AA Change: R49G

Domain	Start	End	E-Value	Type
S_TKc	4	286	2.27e-95	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000109078
AA Change: R49G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000104706
Gene: ENSMUSG00000020389
AA Change: R49G

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: R49G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000104707
Gene: ENSMUSG00000020389
AA Change: R49G

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 damaging
Transcript: ENSMUST00000120374
AA Change: R49G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000113303
Gene: ENSMUSG00000020389
AA Change: R49G

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: R49G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000104709
Gene: ENSMUSG00000020389
AA Change: R49G

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: R49G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000112477
Gene: ENSMUSG00000020389
AA Change: R49G

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: ENSMUST00000109080
AA Change: R49G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000104708
Gene: ENSMUSG00000020389
AA Change: R49G

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: ENSMUST00000135076
AA Change: R49G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000117983
Gene: ENSMUSG00000020389
AA Change: R49G

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 damaging
Transcript: ENSMUST00000143228
AA Change: R49G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000123279
Gene: ENSMUSG00000020389
AA Change: R49G

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: ENSMUST00000124699

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000181262

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000147412

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000147833

Predicted Effect

probably benign
Transcript: ENSMUST00000109086

SMART Domains

Protein: ENSMUSP00000104714
Gene: ENSMUSG00000020390

Domain	Start	End	E-Value	Type
UBCc	7	150	3.01e-72	SMART

Coding Region Coverage

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: 31 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgra2	G	A	8: 27,608,761 (GRCm39)	A540T	possibly damaging	Het
Alms1	T	A	6: 85,604,928 (GRCm39)	C1724S	probably benign	Het
Anapc10	T	C	8: 80,439,795 (GRCm39)	M1T	probably null	Het
Antxrl	A	G	14: 33,789,904 (GRCm39)	N332S	probably damaging	Het
Chodl	A	G	16: 78,741,452 (GRCm39)		probably benign	Het
Clca3a1	G	T	3: 144,733,202 (GRCm39)	A102D	probably damaging	Het
Clip1	T	C	5: 123,755,559 (GRCm39)	E1029G	probably damaging	Het
Cpeb2	T	A	5: 43,394,765 (GRCm39)	I581N	probably benign	Het
Dmxl1	T	C	18: 49,996,092 (GRCm39)	V406A	probably damaging	Het
Dnah17	C	T	11: 117,924,707 (GRCm39)	R3960Q	probably damaging	Het
Fstl5	A	G	3: 76,615,135 (GRCm39)	D732G	probably benign	Het
Fyb2	G	T	4: 104,853,008 (GRCm39)	V499L	probably benign	Het
Gm43191	A	T	3: 116,445,116 (GRCm39)	H39Q	probably damaging	Het
Hspg2	A	G	4: 137,242,084 (GRCm39)	K606R	probably damaging	Het
Klk1b27	C	T	7: 43,706,097 (GRCm39)		probably benign	Het
Mdga2	T	C	12: 66,676,672 (GRCm39)		probably benign	Het
Mup14	A	T	4: 61,259,383 (GRCm39)	F56L	probably benign	Het
Myh15	A	G	16: 48,881,874 (GRCm39)	K39E	probably benign	Het
Or1j10	A	T	2: 36,267,576 (GRCm39)	N263Y	probably benign	Het
Or5m12	A	G	2: 85,734,714 (GRCm39)	I228T	probably benign	Het
Ppp1r3a	T	A	6: 14,754,810 (GRCm39)	I146F	probably damaging	Het
Ryr2	A	G	13: 11,609,854 (GRCm39)	I759T	probably damaging	Het
Sfmbt1	T	C	14: 30,539,669 (GRCm39)	I819T	probably damaging	Het
Siglec1	A	G	2: 130,925,740 (GRCm39)	V322A	probably benign	Het
Spata3	T	C	1: 85,950,030 (GRCm39)	V87A	possibly damaging	Het
Tacstd2	A	G	6: 67,511,783 (GRCm39)	V303A	possibly damaging	Het
Taok3	T	A	5: 117,403,993 (GRCm39)	F723I	possibly damaging	Het
Tektl1	T	C	10: 78,584,536 (GRCm39)	S329G	probably benign	Het
Vmn1r210	A	T	13: 23,011,366 (GRCm39)	*307R	probably null	Het
Vmn2r70	T	C	7: 85,215,280 (GRCm39)	I85V	probably benign	Het
Zfp384	T	C	6: 125,001,724 (GRCm39)	I123T	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
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
R2077:Cdkl3	UTSW	11	51,917,666 (GRCm39)	missense	probably damaging	0.98
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

Posted On

2013-12-09