Mutagenetix > Incidental Mutation

Incidental Mutation 'R6559:Cdkl3'

521959

Institutional Source

Beutler Lab

Gene Symbol

Cdkl3

Ensembl Gene

ENSMUSG00000020389

Gene Name

cyclin dependent kinase like 3

Synonyms

B230379H01Rik

MMRRC Submission

044683-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.863) question?

Stock #

R6559 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

51895048-51980611 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 51916696 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 275 (T275A)

Ref Sequence

ENSEMBL: ENSMUSP00000123279 (fasta)

Gene Model

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

AlphaFold

Q8BLF2

Predicted Effect

probably benign
Transcript: ENSMUST00000063303
AA Change: T275A

PolyPhen 2 Score 0.018 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000064315
Gene: ENSMUSG00000020389
AA Change: T275A

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: T275A

PolyPhen 2 Score 0.018 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000065128
Gene: ENSMUSG00000020389
AA Change: T275A

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
AA Change: T275A

PolyPhen 2 Score 0.018 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000104704
Gene: ENSMUSG00000020389
AA Change: T275A

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

Predicted Effect

probably benign
Transcript: ENSMUST00000109077
AA Change: T275A

PolyPhen 2 Score 0.018 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000104705
Gene: ENSMUSG00000020389
AA Change: T275A

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

Predicted Effect

probably benign
Transcript: ENSMUST00000109078
AA Change: T275A

PolyPhen 2 Score 0.018 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000104706
Gene: ENSMUSG00000020389
AA Change: T275A

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: T275A

PolyPhen 2 Score 0.018 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000104707
Gene: ENSMUSG00000020389
AA Change: T275A

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: T275A

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000104708
Gene: ENSMUSG00000020389
AA Change: T275A

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: T275A

PolyPhen 2 Score 0.018 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000104709
Gene: ENSMUSG00000020389
AA Change: T275A

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: T275A

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000113303
Gene: ENSMUSG00000020389
AA Change: T275A

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: T275A

PolyPhen 2 Score 0.018 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000112477
Gene: ENSMUSG00000020389
AA Change: T275A

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: ENSMUST00000143228
AA Change: T275A

PolyPhen 2 Score 0.044 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000123279
Gene: ENSMUSG00000020389
AA Change: T275A

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

noncoding transcript
Transcript: ENSMUST00000181262

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: 99.4%
20x: 97.9%

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: 22 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930522H14Rik	C	T	4: 109,363,002 (GRCm39)	V106I	possibly damaging	Het
Actn4	T	C	7: 28,606,461 (GRCm39)	K284R	possibly damaging	Het
Adam20	G	C	8: 41,249,329 (GRCm39)	E480Q	probably benign	Het
Dync2h1	A	G	9: 7,139,501 (GRCm39)	I1378T	possibly damaging	Het
Fam186a	A	G	15: 99,842,356 (GRCm39)	I1296T	possibly damaging	Het
Fbf1	G	A	11: 116,046,272 (GRCm39)	T193M	probably benign	Het
Fcrl1	A	G	3: 87,298,560 (GRCm39)	I352V	probably benign	Het
Ifit3	T	C	19: 34,564,514 (GRCm39)	F20S	probably damaging	Het
Klhl3	G	A	13: 58,164,290 (GRCm39)	R431W	probably damaging	Het
Lipi	A	G	16: 75,337,982 (GRCm39)	V464A	probably benign	Het
Lrp6	T	C	6: 134,490,217 (GRCm39)	I120M	probably damaging	Het
Mst1r	A	G	9: 107,785,470 (GRCm39)	N376S	possibly damaging	Het
Myo1c	C	T	11: 75,562,461 (GRCm39)	P918S	probably benign	Het
Ncoa2	G	A	1: 13,220,841 (GRCm39)		probably null	Het
Odad2	T	C	18: 7,223,664 (GRCm39)	T460A	probably damaging	Het
Or6c215	A	T	10: 129,637,533 (GRCm39)	I287N	probably damaging	Het
Or8c10	A	G	9: 38,279,052 (GRCm39)	Y60C	probably damaging	Het
Teddm1a	A	T	1: 153,768,111 (GRCm39)	I192F	probably benign	Het
Tnfaip3	A	G	10: 18,882,996 (GRCm39)	S190P	probably damaging	Het
Ttc3	T	C	16: 94,223,208 (GRCm39)		probably null	Het
Zfp112	C	T	7: 23,825,888 (GRCm39)	Q619*	probably null	Het
Zscan4-ps3	A	G	7: 11,344,339 (GRCm39)	E99G	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
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
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'- GGTCAGAATTTCCTGTTAGAAACCTG -3'
(R):5'- TGACAAAAGCTAGCTGCCTACC -3'

Sequencing Primer
(F):5'- GAAACCTGCTTGTTTACAGACTCTG -3'
(R):5'- TACCATGTACCTGGGCAGTAC -3'

Posted On

2018-06-06