Mutagenetix > Incidental Mutation

Incidental Mutation 'R0905:Cdkl1'

83300

Institutional Source

Beutler Lab

Gene Symbol

Cdkl1

Ensembl Gene

ENSMUSG00000020990

Gene Name

cyclin dependent kinase like 1

Synonyms

4933411O17Rik

MMRRC Submission

039063-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.121) question?

Stock #

R0905 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

69793622-69838041 bp(-) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

A to T at 69803338 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Stop codon at position 179 (Y179*)

Ref Sequence

ENSEMBL: ENSMUSP00000021377 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000021377]

AlphaFold

Q8CEQ0

Predicted Effect

probably null
Transcript: ENSMUST00000021377
AA Change: Y179*

SMART Domains

Protein: ENSMUSP00000021377
Gene: ENSMUSG00000020990
AA Change: Y179*

Domain	Start	End	E-Value	Type
S_TKc	4	287	5.27e-105	SMART

Meta Mutation Damage Score

0.9755

Coding Region Coverage

1x: 99.6%
3x: 98.9%
10x: 96.9%
20x: 92.6%

Validation Efficiency

100% (42/42)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene product is a member of a large family of CDC2-related serine/threonine protein kinases. It accumulates primarily in the nucleus. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2013]

Allele List at MGI

Other mutations in this stock

Total: 39 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Arhgap21	G	A	2: 20,854,745 (GRCm39)	T1539M	possibly damaging	Het
Birc2	A	T	9: 7,851,052 (GRCm39)	*138R	probably null	Het
Bsn	C	A	9: 107,982,834 (GRCm39)	D3640Y	unknown	Het
Bsph1	A	T	7: 13,184,839 (GRCm39)	M1L	probably benign	Het
Cfap74	G	A	4: 155,503,153 (GRCm39)		probably null	Het
Crtc1	A	T	8: 70,843,905 (GRCm39)	S454T	probably damaging	Het
Cspg5	A	T	9: 110,075,594 (GRCm39)	D110V	probably damaging	Het
Cyp2w1	A	T	5: 139,342,194 (GRCm39)	Y380F	probably benign	Het
Dbn1	T	C	13: 55,622,040 (GRCm39)		probably benign	Het
Epb41l4b	T	C	4: 57,103,528 (GRCm39)	K103E	probably damaging	Het
Eps8	C	T	6: 137,491,305 (GRCm39)	V358I	probably benign	Het
Gm12253	G	T	11: 58,330,846 (GRCm39)		probably benign	Het
Hltf	T	A	3: 20,163,033 (GRCm39)		probably null	Het
Hsd17b11	C	T	5: 104,157,744 (GRCm39)	V123I	probably benign	Het
Il31ra	T	A	13: 112,668,207 (GRCm39)	E481V	probably damaging	Het
Impdh2	A	G	9: 108,438,296 (GRCm39)		probably benign	Het
Itih5	G	A	2: 10,253,999 (GRCm39)	R750Q	probably benign	Het
Kndc1	A	C	7: 139,503,651 (GRCm39)	K985T	possibly damaging	Het
Lgr6	C	T	1: 134,921,748 (GRCm39)	A199T	probably damaging	Het
Lgsn	A	T	1: 31,242,824 (GRCm39)	Y302F	probably damaging	Het
Lrp1b	A	G	2: 41,174,197 (GRCm39)	S1541P	probably damaging	Het
Mast4	A	G	13: 102,907,292 (GRCm39)	M528T	probably damaging	Het
Mzf1	C	A	7: 12,786,698 (GRCm39)	R124L	possibly damaging	Het
Ndufs2	T	C	1: 171,063,922 (GRCm39)		probably null	Het
Nwd1	G	A	8: 73,436,077 (GRCm39)	V1436M	probably damaging	Het
Phf12	C	T	11: 77,900,230 (GRCm39)	R109*	probably null	Het
Pml	A	G	9: 58,156,822 (GRCm39)		probably null	Het
Ppfia2	T	C	10: 106,655,372 (GRCm39)	I313T	probably benign	Het
Prdm14	C	T	1: 13,195,662 (GRCm39)	G133D	probably benign	Het
Ptgr3	A	G	18: 84,113,332 (GRCm39)	H336R	probably benign	Het
Pygl	A	G	12: 70,257,791 (GRCm39)		probably benign	Het
Rassf10	C	T	7: 112,554,575 (GRCm39)	T392M	probably damaging	Het
Rpe65	T	C	3: 159,307,220 (GRCm39)	S54P	possibly damaging	Het
Sema5b	T	C	16: 35,443,001 (GRCm39)	V2A	probably benign	Het
Sgsm3	T	C	15: 80,895,546 (GRCm39)	I699T	probably damaging	Het
Spn	T	C	7: 126,735,503 (GRCm39)	T335A	probably damaging	Het
Tecta	T	C	9: 42,250,290 (GRCm39)	D1834G	probably damaging	Het
Trp53bp1	C	A	2: 121,034,799 (GRCm39)		probably benign	Het
Ttc3	A	T	16: 94,257,648 (GRCm39)	K1652*	probably null	Het

Other mutations in Cdkl1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01735:Cdkl1	APN	12	69,797,514 (GRCm39)	missense	probably benign
IGL01859:Cdkl1	APN	12	69,806,903 (GRCm39)	missense	probably damaging	1.00
R0218:Cdkl1	UTSW	12	69,836,809 (GRCm39)	missense	probably benign	0.01
R3922:Cdkl1	UTSW	12	69,803,373 (GRCm39)	missense	probably damaging	1.00
R3924:Cdkl1	UTSW	12	69,803,373 (GRCm39)	missense	probably damaging	1.00
R3925:Cdkl1	UTSW	12	69,803,373 (GRCm39)	missense	probably damaging	1.00
R5050:Cdkl1	UTSW	12	69,804,014 (GRCm39)	missense	probably damaging	1.00
R5851:Cdkl1	UTSW	12	69,803,338 (GRCm39)	nonsense	probably null
R7183:Cdkl1	UTSW	12	69,795,706 (GRCm39)	missense	probably damaging	1.00
R7271:Cdkl1	UTSW	12	69,795,585 (GRCm39)	missense	probably benign	0.10
R7461:Cdkl1	UTSW	12	69,803,235 (GRCm39)	missense	probably benign	0.24
R8342:Cdkl1	UTSW	12	69,800,952 (GRCm39)	missense	probably damaging	1.00
R8357:Cdkl1	UTSW	12	69,794,112 (GRCm39)	missense	probably benign	0.01
R8457:Cdkl1	UTSW	12	69,794,112 (GRCm39)	missense	probably benign	0.01
R8827:Cdkl1	UTSW	12	69,794,123 (GRCm39)	missense	probably benign	0.00
R9177:Cdkl1	UTSW	12	69,794,100 (GRCm39)	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- AGCAGGTTCTCTCAAAGTCAGCGG -3'
(R):5'- GTGAGTACCCACGGCTTCTTCAATG -3'

Sequencing Primer
(F):5'- TCTCTCAAAGTCAGCGGAAACC -3'
(R):5'- ggaggaagcccaagtatcag -3'

Posted On

2013-11-08