Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01974:Cdkl3'

181683

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 #

IGL01974

Quality Score

Status

Chromosome

Chromosomal Location

51895048-51980611 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 51902064 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Arginine at position 91 (Q91R)

Ref Sequence

ENSEMBL: ENSMUSP00000112477 (fasta)

Gene Model

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

AlphaFold

Q8BLF2

Predicted Effect

probably damaging
Transcript: ENSMUST00000063303
AA Change: Q91R

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000064315
Gene: ENSMUSG00000020389
AA Change: Q91R

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: Q91R

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000065128
Gene: ENSMUSG00000020389
AA Change: Q91R

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: Q91R

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000104704
Gene: ENSMUSG00000020389
AA Change: Q91R

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000109077
AA Change: Q91R

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000104705
Gene: ENSMUSG00000020389
AA Change: Q91R

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000109078
AA Change: Q91R

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000104706
Gene: ENSMUSG00000020389
AA Change: Q91R

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: Q91R

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000104707
Gene: ENSMUSG00000020389
AA Change: Q91R

Domain	Start	End	E-Value	Type
S_TKc	4	286	2.27e-95	SMART
Blast:S_TKc	361	477	9e-19	BLAST

Predicted Effect

possibly damaging
Transcript: ENSMUST00000109080
AA Change: Q91R

PolyPhen 2 Score 0.956 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000104708
Gene: ENSMUSG00000020389
AA Change: Q91R

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000120374
AA Change: Q91R

PolyPhen 2 Score 0.956 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000113303
Gene: ENSMUSG00000020389
AA Change: Q91R

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: Q91R

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000112477
Gene: ENSMUSG00000020389
AA Change: Q91R

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: Q91R

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000123279
Gene: ENSMUSG00000020389
AA Change: Q91R

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: Q91R

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000104709
Gene: ENSMUSG00000020389
AA Change: Q91R

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: ENSMUST00000135076
AA Change: Q91R

PolyPhen 2 Score 0.315 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000117983
Gene: ENSMUSG00000020389
AA Change: Q91R

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

noncoding transcript
Transcript: ENSMUST00000181262

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: 27 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
3425401B19Rik	T	C	14: 32,381,762 (GRCm39)	D1401G	possibly damaging	Het
Adamts2	G	A	11: 50,667,001 (GRCm39)	G433S	probably damaging	Het
Cacna2d2	A	C	9: 107,394,621 (GRCm39)	S598R	probably benign	Het
Celf2	T	C	2: 6,608,842 (GRCm39)	Y313C	probably damaging	Het
Clint1	C	A	11: 45,799,862 (GRCm39)	N558K	probably benign	Het
Dcbld1	A	G	10: 52,180,777 (GRCm39)	H147R	probably benign	Het
Ednrb	A	C	14: 104,058,254 (GRCm39)	Y350D	probably damaging	Het
Elp2	C	T	18: 24,759,260 (GRCm39)	P539L	probably damaging	Het
Fam217b	G	A	2: 178,063,020 (GRCm39)	R328Q	probably damaging	Het
Gm9991	G	T	1: 90,603,197 (GRCm39)		noncoding transcript	Het
Herc4	T	G	10: 63,135,020 (GRCm39)		probably null	Het
Hus1	T	C	11: 8,950,088 (GRCm39)	N211S	possibly damaging	Het
Immt	A	G	6: 71,849,842 (GRCm39)	D454G	probably damaging	Het
Itga4	G	A	2: 79,103,471 (GRCm39)		probably benign	Het
Kank1	A	T	19: 25,387,596 (GRCm39)	N423I	possibly damaging	Het
Kynu	T	A	2: 43,571,352 (GRCm39)		probably benign	Het
Mycbp2	A	C	14: 103,380,647 (GRCm39)	S3670A	possibly damaging	Het
Ndufv3	T	C	17: 31,740,583 (GRCm39)	V30A	probably benign	Het
Or8k17	G	T	2: 86,066,304 (GRCm39)	L292I	probably benign	Het
Per2	C	T	1: 91,351,440 (GRCm39)	R1022Q	probably benign	Het
Rad23a	T	C	8: 85,565,568 (GRCm39)	E30G	probably damaging	Het
Ropn1l	T	A	15: 31,449,255 (GRCm39)	Y91F	probably benign	Het
Sertad4	C	A	1: 192,529,274 (GRCm39)	E181*	probably null	Het
Styxl2	A	T	1: 165,928,105 (GRCm39)	C502*	probably null	Het
Tnfrsf1b	G	A	4: 144,942,421 (GRCm39)	P454L	probably damaging	Het
Ttbk2	G	A	2: 120,616,564 (GRCm39)	R110W	probably damaging	Het
Usp17le	G	T	7: 104,417,642 (GRCm39)	S500Y	probably benign	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
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

2014-05-07