Mutagenetix > Incidental Mutation

Incidental Mutation 'R6541:Cdkl3'

520778

Institutional Source

Beutler Lab

Gene Symbol

Cdkl3

Ensembl Gene

ENSMUSG00000020389

Gene Name

cyclin dependent kinase like 3

Synonyms

B230379H01Rik

MMRRC Submission

044667-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.863) question?

Stock #

R6541 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

51895048-51980611 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 51913571 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Arginine at position 220 (L220R)

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] [ENSMUST00000135076]

AlphaFold

Q8BLF2

Predicted Effect

probably damaging
Transcript: ENSMUST00000063303
AA Change: L220R

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

SMART Domains

Protein: ENSMUSP00000064315
Gene: ENSMUSG00000020389
AA Change: L220R

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: L220R

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

SMART Domains

Protein: ENSMUSP00000065128
Gene: ENSMUSG00000020389
AA Change: L220R

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: L220R

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

SMART Domains

Protein: ENSMUSP00000104704
Gene: ENSMUSG00000020389
AA Change: L220R

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000109077
AA Change: L220R

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

SMART Domains

Protein: ENSMUSP00000104705
Gene: ENSMUSG00000020389
AA Change: L220R

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000109078
AA Change: L220R

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

SMART Domains

Protein: ENSMUSP00000104706
Gene: ENSMUSG00000020389
AA Change: L220R

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: L220R

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

SMART Domains

Protein: ENSMUSP00000104707
Gene: ENSMUSG00000020389
AA Change: L220R

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: ENSMUST00000109080
AA Change: L220R

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

SMART Domains

Protein: ENSMUSP00000104708
Gene: ENSMUSG00000020389
AA Change: L220R

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: L220R

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

SMART Domains

Protein: ENSMUSP00000104709
Gene: ENSMUSG00000020389
AA Change: L220R

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: ENSMUST00000120374
AA Change: L220R

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

SMART Domains

Protein: ENSMUSP00000113303
Gene: ENSMUSG00000020389
AA Change: L220R

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: L220R

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

SMART Domains

Protein: ENSMUSP00000112477
Gene: ENSMUSG00000020389
AA Change: L220R

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: L220R

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

SMART Domains

Protein: ENSMUSP00000123279
Gene: ENSMUSG00000020389
AA Change: L220R

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

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

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.4%
20x: 97.8%

Validation Efficiency

97% (36/37)

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: 36 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ass1	T	C	2: 31,400,245 (GRCm39)	V321A	probably damaging	Het
BC028528	T	A	3: 95,795,530 (GRCm39)	M91L	probably benign	Het
Bicra	T	C	7: 15,713,054 (GRCm39)	T998A	probably benign	Het
Cluh	A	G	11: 74,548,040 (GRCm39)	D117G	probably damaging	Het
Cplane1	T	C	15: 8,248,779 (GRCm39)	V1776A	possibly damaging	Het
Crygf	T	C	1: 65,967,224 (GRCm39)	F116S	probably damaging	Het
Ergic2	T	A	6: 148,084,648 (GRCm39)	Y20F	probably damaging	Het
Esf1	A	G	2: 140,009,799 (GRCm39)	V179A	probably benign	Het
Gm28360	T	C	1: 117,758,047 (GRCm39)		probably benign	Het
Hhatl	C	T	9: 121,614,210 (GRCm39)	V385I	probably damaging	Het
Iba57	A	T	11: 59,049,689 (GRCm39)	D219E	possibly damaging	Het
Il36b	T	A	2: 24,049,827 (GRCm39)	V146D	probably damaging	Het
Itgal	T	A	7: 126,910,734 (GRCm39)	V176E	probably damaging	Het
Kdm3a	T	C	6: 71,571,517 (GRCm39)	M1060V	possibly damaging	Het
Kif18b	T	C	11: 102,805,092 (GRCm39)	K351R	probably damaging	Het
Mroh9	A	G	1: 162,885,607 (GRCm39)	F342L	possibly damaging	Het
Ndufa11	T	A	17: 57,024,867 (GRCm39)	S10T	probably benign	Het
Or2bd2	A	T	7: 6,443,492 (GRCm39)	N198Y	probably benign	Het
Or5w19	T	C	2: 87,698,638 (GRCm39)	F101S	probably benign	Het
Or6b6	A	T	7: 106,571,410 (GRCm39)	F47Y	probably benign	Het
Or7h8	T	A	9: 20,123,695 (GRCm39)	F17I	probably benign	Het
Pacsin3	A	G	2: 91,093,129 (GRCm39)	E207G	probably damaging	Het
Pcsk1	T	A	13: 75,274,103 (GRCm39)	L136Q	probably damaging	Het
Prr18	G	T	17: 8,560,168 (GRCm39)	R108L	possibly damaging	Het
Rdh5	A	G	10: 128,753,977 (GRCm39)	V44A	possibly damaging	Het
Rnd2	C	T	11: 101,359,825 (GRCm39)	L57F	probably damaging	Het
Sh2d4b	T	C	14: 40,542,748 (GRCm39)	T343A	probably benign	Het
Slc16a10	T	C	10: 39,913,268 (GRCm39)	N480S	probably benign	Het
Spaca7b	T	A	8: 11,712,613 (GRCm39)	Q79L	probably benign	Het
Sval3	A	T	6: 41,949,380 (GRCm39)	N73Y	probably damaging	Het
Taar7d	T	C	10: 23,904,129 (GRCm39)	I337T	probably benign	Het
Ttn	T	A	2: 76,577,039 (GRCm39)	Q24618L	possibly damaging	Het
Ugt1a9	T	A	1: 87,999,318 (GRCm39)	V256E	probably damaging	Het
Vmn2r108	T	A	17: 20,701,480 (GRCm39)	I7F	probably benign	Het
Vmn2r55	A	G	7: 12,404,939 (GRCm39)	S155P	probably damaging	Het
Vwa3b	T	A	1: 37,090,842 (GRCm39)	V169E	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
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'- CAGCAGCTCCTGGAGGAAAC -3'
(R):5'- TCTGCAAATTCTCAGCCAGC -3'

Sequencing Primer
(F):5'- GACATTGAACCTAGGGCTTCC -3'
(R):5'- TGCAAATTCTCAGCCAGCCTTAATG -3'

Posted On

2018-06-06