Mutagenetix > Incidental Mutations

Incidental Mutation 'R2272:Cdkl3'

242581

Institutional Source

Beutler Lab

Gene Symbol

Cdkl3

Ensembl Gene

ENSMUSG00000020389

Gene Name

cyclin-dependent kinase-like 3

Synonyms

B230379H01Rik

MMRRC Submission

040272-MU

Accession Numbers

Is this an essential gene?

Probably essential (E-score: 0.817) question?

Stock #

R2272 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

52004221-52089784 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 52032495 bp

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 45 (V45A)

Ref Sequence

ENSEMBL: ENSMUSP00000118607 (fasta)

Gene Model

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

Predicted Effect

probably benign
Transcript: ENSMUST00000063303
AA Change: V533A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000064315
Gene: ENSMUSG00000020389
AA Change: V533A

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: V533A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000065128
Gene: ENSMUSG00000020389
AA Change: V533A

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: V533A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000104707
Gene: ENSMUSG00000020389
AA Change: V533A

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: V533A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000104708
Gene: ENSMUSG00000020389
AA Change: V533A

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: V533A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000104709
Gene: ENSMUSG00000020389
AA Change: V533A

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: V533A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000113303
Gene: ENSMUSG00000020389
AA Change: V533A

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: V533A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000112477
Gene: ENSMUSG00000020389
AA Change: V533A

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: V166A

PolyPhen 2 Score 0.066 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000121945
Gene: ENSMUSG00000020389
AA Change: V166A

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

Predicted Effect

probably benign
Transcript: ENSMUST00000136021

Predicted Effect

unknown
Transcript: ENSMUST00000154701
AA Change: V16A

Predicted Effect

probably benign
Transcript: ENSMUST00000143228
AA Change: V533A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000123279
Gene: ENSMUSG00000020389
AA Change: V533A

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: ENSMUST00000150736
AA Change: V45A

PolyPhen 2 Score 0.066 (Sensitivity: 0.94; Specificity: 0.84)

Predicted Effect

unknown
Transcript: ENSMUST00000147874
AA Change: V91A

SMART Domains

Protein: ENSMUSP00000119505
Gene: ENSMUSG00000020389
AA Change: V91A

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

Predicted Effect

probably benign
Transcript: ENSMUST00000207272

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000181262

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.4%
20x: 95.3%

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: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adcy10	A	T	1: 165,510,297	E160V	probably damaging	Het
Ago1	C	A	4: 126,453,650	M435I	probably benign	Het
Apol7b	G	A	15: 77,423,710	A195V	probably damaging	Het
Arid3c	T	A	4: 41,724,744	I364F	probably damaging	Het
Arntl2	T	C	6: 146,822,114	F314S	probably damaging	Het
Atg2b	C	T	12: 105,638,008	V1545I	probably benign	Het
Atp4a	C	A	7: 30,715,500	S238*	probably null	Het
Birc6	T	C	17: 74,602,971	V1453A	probably benign	Het
Brinp3	A	G	1: 146,901,404	R530G	possibly damaging	Het
Carnmt1	T	C	19: 18,703,370	L336P	probably damaging	Het
Cdh22	A	T	2: 165,143,847		probably null	Het
Cdk5rap2	A	C	4: 70,266,678	S1178R	probably benign	Het
Cracr2a	T	A	6: 127,607,298	F107I	probably damaging	Het
Cyfip1	G	T	7: 55,899,957	R624L	probably null	Het
Ddc	T	C	11: 11,835,764	N308D	probably damaging	Het
Dnah10	A	G	5: 124,731,466	N195S	probably benign	Het
Dnah9	T	C	11: 66,112,362	D872G	probably benign	Het
Fam71e2	T	A	7: 4,758,187	T509S	probably benign	Het
Fmo1	A	T	1: 162,833,855	D286E	probably damaging	Het
Fmo4	A	T	1: 162,799,047	I310N	possibly damaging	Het
Gm13088	G	A	4: 143,654,142	T437I	probably damaging	Het
Hydin	A	T	8: 110,309,132	I152L	probably benign	Het
Itpr1	T	A	6: 108,493,755	C2214S	probably damaging	Het
Kcnq3	T	A	15: 66,028,680	D242V	probably damaging	Het
Klhl1	T	C	14: 96,517,908	D137G	probably benign	Het
Lama5	T	C	2: 180,178,603	D3282G	possibly damaging	Het
Lhx8	A	G	3: 154,316,762	L254S	probably damaging	Het
Lipa	T	A	19: 34,510,890	R119*	probably null	Het
Matn4	A	T	2: 164,397,242	C232S	possibly damaging	Het
Mios	C	T	6: 8,226,865	R614C	possibly damaging	Het
Mrc2	G	A	11: 105,348,431		probably null	Het
Muc6	T	A	7: 141,637,510	T2417S	possibly damaging	Het
Mycbp2	T	C	14: 103,144,338	H3612R	probably null	Het
Myo5b	G	T	18: 74,733,925	L1382F	probably damaging	Het
Myo7b	C	T	18: 31,977,043	S1122N	probably benign	Het
Myo9a	T	A	9: 59,815,301	F549I	probably damaging	Het
Ncbp2	T	C	16: 31,956,951	Y138H	probably damaging	Het
Neil1	A	G	9: 57,146,785	S84P	probably damaging	Het
Nfix	A	G	8: 84,727,175	I256T	probably damaging	Het
Nlrp4f	A	T	13: 65,194,408	D474E	probably benign	Het
Olfr203	T	G	16: 59,303,444	M98R	possibly damaging	Het
Olfr870	T	A	9: 20,171,409	H54L	possibly damaging	Het
Pcnx	T	C	12: 81,995,314	V2240A	probably benign	Het
Per3	T	A	4: 151,018,885	Y530F	probably damaging	Het
Pes1	C	A	11: 3,969,524	L66I	probably damaging	Het
Prkdc	A	G	16: 15,654,817		probably null	Het
Prpf8	T	A	11: 75,495,363	V946E	probably damaging	Het
Prrc1	G	T	18: 57,381,646	D312Y	probably damaging	Het
Prss54	C	T	8: 95,571,107	W45*	probably null	Het
Psg29	A	T	7: 17,210,696	N377I	probably benign	Het
Rab3gap2	T	A	1: 185,283,542		probably null	Het
Serpinb9c	C	T	13: 33,154,541	G125E	probably damaging	Het
Skint4	A	G	4: 112,119,868	T152A	probably benign	Het
Slc26a2	A	G	18: 61,198,578	C594R	possibly damaging	Het
Slc47a2	A	T	11: 61,328,526		probably null	Het
Ttc39d	A	G	17: 80,217,246	K445E	probably damaging	Het
Ttn	T	A	2: 76,764,520	E20394V	probably damaging	Het
Ugt2b36	A	G	5: 87,066,255	V510A	possibly damaging	Het
Usf1	T	C	1: 171,418,060	L291P	possibly damaging	Het
Usp7	T	C	16: 8,698,469	S649G	probably benign	Het
Vmn1r172	A	C	7: 23,660,191	D167A	probably damaging	Het
Wnt10b	T	A	15: 98,774,347	Q163L	probably damaging	Het

Other mutations in Cdkl3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00425:Cdkl3	APN	11	52029856	missense	probably benign	0.28
IGL01632:Cdkl3	APN	11	52005072	missense	probably damaging	1.00
IGL01768:Cdkl3	APN	11	52025917	missense	probably damaging	1.00
IGL01974:Cdkl3	APN	11	52011237	missense	probably damaging	1.00
IGL01981:Cdkl3	APN	11	52005069	missense	probably benign	0.43
IGL02510:Cdkl3	APN	11	52011270	missense	probably damaging	1.00
R0027:Cdkl3	UTSW	11	52032349	unclassified	probably benign
R0027:Cdkl3	UTSW	11	52032349	unclassified	probably benign
R0480:Cdkl3	UTSW	11	52005055	missense	probably damaging	1.00
R0499:Cdkl3	UTSW	11	52032416	missense	possibly damaging	0.52
R0627:Cdkl3	UTSW	11	52011308	missense	probably damaging	1.00
R0848:Cdkl3	UTSW	11	52011267	missense	probably damaging	1.00
R1510:Cdkl3	UTSW	11	52033514	missense	possibly damaging	0.90
R1558:Cdkl3	UTSW	11	52032510	missense	possibly damaging	0.62
R2046:Cdkl3	UTSW	11	52026850	missense	probably benign
R2077:Cdkl3	UTSW	11	52026839	missense	probably damaging	0.98
R2207:Cdkl3	UTSW	11	52027193	makesense	probably null
R2271:Cdkl3	UTSW	11	52032495	missense	probably benign	0.07
R4032:Cdkl3	UTSW	11	52011291	missense	probably damaging	1.00
R4839:Cdkl3	UTSW	11	52005034	missense	probably damaging	1.00
R4971:Cdkl3	UTSW	11	52011168	missense	possibly damaging	0.48
R6541:Cdkl3	UTSW	11	52022744	missense	probably damaging	1.00
R6559:Cdkl3	UTSW	11	52025869	missense	probably benign	0.04
R7034:Cdkl3	UTSW	11	52027215	missense	probably benign	0.00
R7068:Cdkl3	UTSW	11	52011327	critical splice donor site	probably null
R7406:Cdkl3	UTSW	11	52033542	missense	probably benign	0.11
R7658:Cdkl3	UTSW	11	52027182	missense	not run
R7870:Cdkl3	UTSW	11	52018457	critical splice donor site	probably null
R8324:Cdkl3	UTSW	11	52022879	critical splice donor site	probably null
R8331:Cdkl3	UTSW	11	52026877	missense	probably benign	0.04
R8349:Cdkl3	UTSW	11	52084433	missense
R8449:Cdkl3	UTSW	11	52084433	missense

Predicted Primers

PCR Primer
(F):5'- TGCTGATTTGTGTGTCACCC -3'
(R):5'- AGCGCTTTCCCCACATTATG -3'

Sequencing Primer
(F):5'- ACCCACAGTTCTTCTTACTAACTGG -3'
(R):5'- TTATATAGTGAGCTCCAGGACAGCC -3'

Posted On

2014-10-16