Mutagenetix > Incidental Mutation

Incidental Mutation 'R5851:Cdkl1'

454689

Institutional Source

Beutler Lab

Gene Symbol

Cdkl1

Ensembl Gene

ENSMUSG00000020990

Gene Name

cyclin dependent kinase like 1

Synonyms

4933411O17Rik

MMRRC Submission

044067-MU

Accession Numbers

Essential gene?

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

Stock #

R5851 (G1)

Quality Score

153

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: 99.9%
3x: 99.6%
10x: 98.0%
20x: 94.0%

Validation Efficiency

100% (75/75)

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: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca2	A	G	2: 25,332,322 (GRCm39)	N1452D	possibly damaging	Het
Abhd15	T	C	11: 77,409,273 (GRCm39)	L329P	probably benign	Het
Add3	T	C	19: 53,225,205 (GRCm39)	S442P	probably damaging	Het
Arhgef18	T	C	8: 3,484,980 (GRCm39)	F228L	probably damaging	Het
Bptf	A	T	11: 107,001,688 (GRCm39)	Y475N	probably damaging	Het
C3	T	C	17: 57,518,612 (GRCm39)	N1257S	probably null	Het
Ceacam1	T	C	7: 25,174,025 (GRCm39)	N210S	possibly damaging	Het
Celf3	T	A	3: 94,386,433 (GRCm39)	I7N	probably damaging	Het
Clxn	T	A	16: 14,738,300 (GRCm39)	L155H	probably damaging	Het
Cmpk1	A	G	4: 114,844,167 (GRCm39)	V55A	possibly damaging	Het
Csrnp1	C	T	9: 119,802,144 (GRCm39)	G305D	possibly damaging	Het
Dnah3	A	G	7: 119,638,585 (GRCm39)	S1266P	possibly damaging	Het
Edc4	T	C	8: 106,617,499 (GRCm39)	L1077P	probably damaging	Het
Fam174a	G	A	1: 95,252,868 (GRCm39)	G157S	probably damaging	Het
Fubp3	T	A	2: 31,488,622 (GRCm39)	D159E	probably benign	Het
Garem2	C	T	5: 30,319,288 (GRCm39)	T250M	probably damaging	Het
H2-Eb1	C	T	17: 34,528,745 (GRCm39)	P92L	probably benign	Het
Ifnl3	G	T	7: 28,222,936 (GRCm39)	C69F	probably damaging	Het
Itga2b	C	A	11: 102,348,427 (GRCm39)		probably benign	Het
Klhl33	A	T	14: 51,130,335 (GRCm39)	D386E	probably damaging	Het
Lin9	T	A	1: 180,496,763 (GRCm39)	L351I	probably benign	Het
Loricrin	G	A	3: 91,987,846 (GRCm39)	A480V	unknown	Het
Msh3	G	T	13: 92,352,030 (GRCm39)	Q1041K	probably benign	Het
Mtrex	G	A	13: 113,045,486 (GRCm39)	R349W	probably damaging	Het
Myo1e	G	A	9: 70,291,086 (GRCm39)	G959E	probably benign	Het
Nfat5	G	T	8: 108,074,359 (GRCm39)	V338L	probably damaging	Het
Nrf1	A	G	6: 30,089,975 (GRCm39)	H18R	possibly damaging	Het
Nup160	A	G	2: 90,537,382 (GRCm39)	D752G	probably benign	Het
Obscn	A	T	11: 58,885,526 (GRCm39)	L2489*	probably null	Het
Or4p22	A	G	2: 88,317,204 (GRCm39)	I43V	possibly damaging	Het
Or51q1c	A	G	7: 103,652,659 (GRCm39)	E59G	probably benign	Het
Paip1	T	C	13: 119,577,301 (GRCm39)	S215P	possibly damaging	Het
Pate2	T	A	9: 35,581,797 (GRCm39)	Y26*	probably null	Het
Pcdhb10	A	G	18: 37,545,811 (GRCm39)	I296V	probably benign	Het
Pdzph1	T	G	17: 59,280,741 (GRCm39)	T514P	probably benign	Het
Pnlip	G	A	19: 58,662,224 (GRCm39)	W123*	probably null	Het
Prmt2	C	A	10: 76,072,574 (GRCm39)	C9F	possibly damaging	Het
Rbl1	T	A	2: 157,009,245 (GRCm39)	K763N	probably benign	Het
Rfk	C	T	19: 17,372,562 (GRCm39)	A28V	probably damaging	Het
Scart1	C	T	7: 139,807,940 (GRCm39)	P704S	possibly damaging	Het
Sdk1	G	A	5: 141,948,424 (GRCm39)	V590I	probably benign	Het
Sele	A	G	1: 163,877,143 (GRCm39)	K140E	probably benign	Het
Sla	G	A	15: 66,655,572 (GRCm39)	T189I	probably damaging	Het
Slc46a2	A	G	4: 59,913,906 (GRCm39)	V339A	probably damaging	Het
Slc5a9	A	G	4: 111,742,797 (GRCm39)	F432L	probably benign	Het
Slc6a19	A	G	13: 73,839,859 (GRCm39)	F141S	possibly damaging	Het
Tas2r123	T	C	6: 132,824,271 (GRCm39)	L56S	probably damaging	Het
Tektip1	A	T	10: 81,200,711 (GRCm39)		probably null	Het
Tmem245	T	C	4: 56,916,770 (GRCm39)	I53V	probably benign	Het
Tor2a	A	T	2: 32,651,619 (GRCm39)	Q278L	probably benign	Het
Trav6-3	A	G	14: 53,667,572 (GRCm39)	M15V	probably benign	Het
Ttc28	G	A	5: 111,383,335 (GRCm39)		probably benign	Het
Ubap2	G	A	4: 41,206,268 (GRCm39)	Q534*	probably null	Het
Yju2	C	T	17: 56,274,582 (GRCm39)	S298F	probably damaging	Het
Zfp954	C	A	7: 7,118,624 (GRCm39)	E307*	probably null	Het
Zscan21	A	G	5: 138,124,740 (GRCm39)	K219E	probably benign	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
R0905:Cdkl1	UTSW	12	69,803,338 (GRCm39)	nonsense	probably null
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
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'- ATGGAGCCATTTCAGCGAG -3'
(R):5'- TGGTGATTCGGAAAAGCTTCATTTC -3'

Sequencing Primer
(F):5'- TTCCTAAAGGTGTCAGGTAAGC -3'
(R):5'- TCGGAAAAGCTTCATTTCTTAGG -3'

Posted On

2017-02-10