Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00425:Cdkl3'

6060

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: 0.863) question?

Stock #

IGL00425

Quality Score

Status

Chromosome

Chromosomal Location

51895048-51980611 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 51920683 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Lysine at position 462 (T462K)

Ref Sequence

ENSEMBL: ENSMUSP00000123279 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000063303] [ENSMUST00000063321] [ENSMUST00000109076] [ENSMUST00000109077] [ENSMUST00000109078] [ENSMUST00000109079] [ENSMUST00000109080] [ENSMUST00000120374] [ENSMUST00000121591] [ENSMUST00000109081] [ENSMUST00000128853] [ENSMUST00000143228] [ENSMUST00000150736]

AlphaFold

Q8BLF2

Predicted Effect

probably benign
Transcript: ENSMUST00000063303
AA Change: T462K

PolyPhen 2 Score 0.130 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000064315
Gene: ENSMUSG00000020389
AA Change: T462K

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: ENSMUST00000063321
AA Change: T462K

PolyPhen 2 Score 0.130 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000065128
Gene: ENSMUSG00000020389
AA Change: T462K

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 benign
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 benign
Transcript: ENSMUST00000109079
AA Change: T462K

PolyPhen 2 Score 0.130 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000104707
Gene: ENSMUSG00000020389
AA Change: T462K

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: ENSMUST00000109080
AA Change: T462K

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000104708
Gene: ENSMUSG00000020389
AA Change: T462K

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: ENSMUST00000120374
AA Change: T462K

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000113303
Gene: ENSMUSG00000020389
AA Change: T462K

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: ENSMUST00000121591
AA Change: T462K

PolyPhen 2 Score 0.130 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000112477
Gene: ENSMUSG00000020389
AA Change: T462K

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: ENSMUST00000109081
AA Change: T462K

PolyPhen 2 Score 0.130 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000104709
Gene: ENSMUSG00000020389
AA Change: T462K

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
AA Change: T95K

PolyPhen 2 Score 0.201 (Sensitivity: 0.92; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000121945
Gene: ENSMUSG00000020389
AA Change: T95K

Domain	Start	End	E-Value	Type
Blast:S_TKc	1	110	2e-15	BLAST

Predicted Effect

probably benign
Transcript: ENSMUST00000143228
AA Change: T462K

PolyPhen 2 Score 0.276 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000123279
Gene: ENSMUSG00000020389
AA Change: T462K

Domain	Start	End	E-Value	Type
S_TKc	4	286	2.27e-95	SMART
Blast:S_TKc	361	477	1e-18	BLAST

Predicted Effect

unknown
Transcript: ENSMUST00000147874
AA Change: T20K

SMART Domains

Protein: ENSMUSP00000119505
Gene: ENSMUSG00000020389
AA Change: T20K

Domain	Start	End	E-Value	Type
Blast:S_TKc	2	36	5e-7	BLAST

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000181262

Predicted Effect

probably benign
Transcript: ENSMUST00000207272

Predicted Effect

probably benign
Transcript: ENSMUST00000150736

Predicted Effect

probably benign
Transcript: ENSMUST00000154701

Predicted Effect

probably benign
Transcript: ENSMUST00000136021

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: 35 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam2	C	T	14: 66,311,498 (GRCm39)		probably null	Het
Adgrb2	A	T	4: 129,912,865 (GRCm39)	H1373L	probably benign	Het
Adgrf4	A	G	17: 42,977,547 (GRCm39)	S599P	probably damaging	Het
Atp9b	G	A	18: 80,961,103 (GRCm39)		probably benign	Het
Baiap2	A	G	11: 119,872,836 (GRCm39)	T125A	probably benign	Het
Barhl2	C	T	5: 106,603,365 (GRCm39)	A265T	possibly damaging	Het
Cacna2d2	T	C	9: 107,404,550 (GRCm39)	S1114P	probably damaging	Het
Ccdc159	T	C	9: 21,840,765 (GRCm39)	S111P	possibly damaging	Het
Cd177	T	A	7: 24,459,176 (GRCm39)	T78S	possibly damaging	Het
Cdk5rap2	A	G	4: 70,321,709 (GRCm39)		probably null	Het
Chid1	A	C	7: 141,102,609 (GRCm39)	L208R	probably damaging	Het
Clca3b	A	G	3: 144,542,342 (GRCm39)	S487P	probably benign	Het
Col6a3	A	T	1: 90,709,748 (GRCm39)	L1816Q	unknown	Het
Dido1	A	G	2: 180,325,782 (GRCm39)	S469P	probably benign	Het
Dsg2	A	G	18: 20,734,826 (GRCm39)	N935D	probably benign	Het
Fbxw2	A	G	2: 34,702,961 (GRCm39)	I184T	probably benign	Het
Gbp9	T	C	5: 105,253,620 (GRCm39)	I32V	possibly damaging	Het
Hycc2	A	T	1: 58,579,412 (GRCm39)		probably benign	Het
Itgb8	G	A	12: 119,153,561 (GRCm39)	T318I	probably damaging	Het
Kcnb2	A	G	1: 15,781,236 (GRCm39)	S703G	probably benign	Het
Kif26b	A	T	1: 178,743,866 (GRCm39)	S1321C	probably damaging	Het
Klb	A	G	5: 65,529,717 (GRCm39)	N415S	possibly damaging	Het
Megf10	C	A	18: 57,373,700 (GRCm39)	A166D	probably damaging	Het
Mrm3	T	G	11: 76,135,319 (GRCm39)	S177A	probably damaging	Het
Nav3	A	G	10: 109,539,368 (GRCm39)	F2011S	probably benign	Het
Nipal1	C	T	5: 72,816,067 (GRCm39)	S30L	probably benign	Het
Ogdhl	T	C	14: 32,068,447 (GRCm39)	Y895H	probably damaging	Het
Pif1	A	G	9: 65,500,559 (GRCm39)	N495D	probably damaging	Het
Prrc2c	A	T	1: 162,548,182 (GRCm39)		probably null	Het
Pygl	T	C	12: 70,237,866 (GRCm39)	D724G	probably damaging	Het
Runx1t1	A	G	4: 13,835,663 (GRCm39)	D40G	probably benign	Het
Serhl	A	T	15: 82,989,838 (GRCm39)	D192V	possibly damaging	Het
Slc12a5	C	T	2: 164,825,201 (GRCm39)	A461V	probably damaging	Het
Tomm34	A	T	2: 163,900,582 (GRCm39)		probably benign	Het
Zfp54	A	G	17: 21,650,559 (GRCm39)	N45D	probably damaging	Het

Other mutations in Cdkl3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
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
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

2012-04-20