Mutagenetix > Incidental Mutation

Incidental Mutation 'R0507:Cdkl4'

47698

Institutional Source

Beutler Lab

Gene Symbol

Cdkl4

Ensembl Gene

ENSMUSG00000033966

Gene Name

cyclin dependent kinase like 4

Synonyms

LOC381113

MMRRC Submission

038702-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0507 (G1)

Quality Score

153

Status

Validated

Chromosome

Chromosomal Location

80830979-80885242 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 80851237 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 155 (D155G)

Ref Sequence

ENSEMBL: ENSMUSP00000083732 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000086545]

AlphaFold

Q3TZA2

Predicted Effect

probably benign
Transcript: ENSMUST00000086545
AA Change: D155G

PolyPhen 2 Score 0.059 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000083732
Gene: ENSMUSG00000033966
AA Change: D155G

Domain	Start	End	E-Value	Type
S_TKc	4	286	6.65e-102	SMART
low complexity region	295	307	N/A	INTRINSIC

Meta Mutation Damage Score

0.1474

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.1%
20x: 95.0%

Validation Efficiency

100% (72/72)

Allele List at MGI

Other mutations in this stock

Total: 69 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca7	T	A	10: 79,838,655 (GRCm39)		probably benign	Het
Adamts16	T	C	13: 70,916,766 (GRCm39)	D742G	probably benign	Het
Akap9	G	A	5: 4,119,043 (GRCm39)	E3517K	probably benign	Het
Arfgef3	T	C	10: 18,467,369 (GRCm39)	T1944A	probably damaging	Het
Bsx	A	G	9: 40,787,796 (GRCm39)		probably benign	Het
Cct2	A	T	10: 116,891,151 (GRCm39)		probably null	Het
Cep250	C	T	2: 155,834,452 (GRCm39)	R2126C	possibly damaging	Het
Cep97	A	T	16: 55,726,245 (GRCm39)		probably benign	Het
Cpne3	C	T	4: 19,532,544 (GRCm39)		probably benign	Het
Csmd1	T	C	8: 16,235,358 (GRCm39)		probably benign	Het
Cx3cr1	C	A	9: 119,881,022 (GRCm39)	D127Y	probably damaging	Het
Dcdc2a	A	G	13: 25,286,572 (GRCm39)	Q165R	probably damaging	Het
Ddx17	A	G	15: 79,421,758 (GRCm39)		probably benign	Het
Dicer1	A	G	12: 104,657,917 (GRCm39)	S1886P	probably damaging	Het
Egf	T	C	3: 129,474,828 (GRCm39)	D571G	possibly damaging	Het
Fyb1	A	G	15: 6,664,297 (GRCm39)	D460G	probably benign	Het
Gbp2	G	T	3: 142,335,794 (GRCm39)	D165Y	probably damaging	Het
Gm14412	A	T	2: 177,006,325 (GRCm39)	N523K	possibly damaging	Het
Gsap	C	T	5: 21,474,961 (GRCm39)	T540I	possibly damaging	Het
Gucy2d	C	A	7: 98,108,209 (GRCm39)		probably null	Het
Icam4	C	A	9: 20,940,799 (GRCm39)	P17Q	possibly damaging	Het
Lyz1	A	T	10: 117,125,022 (GRCm39)		probably null	Het
Matcap1	T	C	8: 106,011,351 (GRCm39)	N261S	probably damaging	Het
Mbd6	A	G	10: 127,119,389 (GRCm39)		probably benign	Het
Mroh3	A	T	1: 136,118,718 (GRCm39)	I533N	probably damaging	Het
Muc4	A	T	16: 32,569,887 (GRCm39)	M316L	probably benign	Het
Myof	A	G	19: 37,889,725 (GRCm39)	I1282T	possibly damaging	Het
Ncald	T	G	15: 37,397,528 (GRCm39)	I51L	probably benign	Het
Negr1	T	A	3: 156,267,862 (GRCm39)	S11T	probably damaging	Het
Obscn	T	C	11: 58,920,167 (GRCm39)	N6735D	probably damaging	Het
Or52n4b	T	C	7: 108,144,292 (GRCm39)	S185P	probably damaging	Het
Or5b105	G	A	19: 13,080,642 (GRCm39)	R3C	possibly damaging	Het
Or6c1b	A	T	10: 129,273,157 (GRCm39)	M159L	probably benign	Het
Or9q1	T	A	19: 13,805,140 (GRCm39)	I207F	possibly damaging	Het
Otogl	A	G	10: 107,702,601 (GRCm39)	V684A	possibly damaging	Het
Palm3	A	G	8: 84,754,958 (GRCm39)	T157A	probably benign	Het
Pard3	T	A	8: 128,097,967 (GRCm39)		probably benign	Het
Pcdh15	A	G	10: 74,457,129 (GRCm39)	D1302G	probably damaging	Het
Pi16	G	A	17: 29,546,826 (GRCm39)	E467K	possibly damaging	Het
Plec	A	T	15: 76,056,983 (GRCm39)	I4183N	probably damaging	Het
Ppp1r13l	T	C	7: 19,109,739 (GRCm39)	L720P	possibly damaging	Het
Prag1	A	G	8: 36,571,277 (GRCm39)	E620G	probably damaging	Het
Ralbp1	G	A	17: 66,156,955 (GRCm39)	T646M	probably benign	Het
Rnf182	T	G	13: 43,821,823 (GRCm39)	S125A	probably benign	Het
Rpe	C	T	1: 66,754,300 (GRCm39)	T124I	probably benign	Het
Rufy4	T	C	1: 74,185,875 (GRCm39)	I514T	probably benign	Het
Sec13	A	T	6: 113,712,080 (GRCm39)	I85N	probably damaging	Het
Siglec1	C	T	2: 130,916,445 (GRCm39)		probably benign	Het
Skint5	T	C	4: 113,425,127 (GRCm39)		probably null	Het
Slc4a3	T	A	1: 75,532,725 (GRCm39)	I995K	probably damaging	Het
Smyd4	T	A	11: 75,290,534 (GRCm39)	S545T	possibly damaging	Het
Steap3	C	T	1: 120,169,313 (GRCm39)	R328H	possibly damaging	Het
Tgm6	G	A	2: 129,980,751 (GRCm39)	E183K	possibly damaging	Het
Themis	T	A	10: 28,657,828 (GRCm39)	V132E	possibly damaging	Het
Thsd1	T	A	8: 22,748,695 (GRCm39)	I461N	probably damaging	Het
Ttk	T	G	9: 83,750,120 (GRCm39)	S692A	probably damaging	Het
Twf1	A	G	15: 94,483,411 (GRCm39)	M99T	probably damaging	Het
Uchl3	T	A	14: 101,904,443 (GRCm39)	L89*	probably null	Het
Uhmk1	A	G	1: 170,034,760 (GRCm39)	V316A	probably damaging	Het
Unc80	A	G	1: 66,567,052 (GRCm39)	N886S	possibly damaging	Het
Vash2	G	T	1: 190,699,115 (GRCm39)		probably benign	Het
Vmn1r200	G	A	13: 22,579,718 (GRCm39)	E174K	probably benign	Het
Vps16	T	C	2: 130,279,632 (GRCm39)		probably null	Het
Wdr73	T	C	7: 80,541,594 (GRCm39)	E316G	possibly damaging	Het
Xpo1	T	C	11: 23,244,682 (GRCm39)	V1020A	possibly damaging	Het
Ylpm1	T	A	12: 85,075,886 (GRCm39)	N870K	probably benign	Het
Zfhx4	C	T	3: 5,466,048 (GRCm39)	Q2069*	probably null	Het
Zfp1005	T	A	2: 150,110,044 (GRCm39)	C245S	possibly damaging	Het
Zfp512b	C	A	2: 181,226,757 (GRCm39)		probably benign	Het

Other mutations in Cdkl4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00236:Cdkl4	APN	17	80,832,705 (GRCm39)	utr 3 prime	probably benign
IGL01752:Cdkl4	APN	17	80,851,043 (GRCm39)	splice site	probably benign
IGL02000:Cdkl4	APN	17	80,851,192 (GRCm39)	missense	probably damaging	1.00
IGL02393:Cdkl4	APN	17	80,867,844 (GRCm39)	missense	probably damaging	1.00
R0047:Cdkl4	UTSW	17	80,858,274 (GRCm39)	missense	probably benign	0.10
R1555:Cdkl4	UTSW	17	80,851,043 (GRCm39)	splice site	probably benign
R1623:Cdkl4	UTSW	17	80,863,731 (GRCm39)	splice site	probably null
R2007:Cdkl4	UTSW	17	80,863,730 (GRCm39)	splice site	probably benign
R4701:Cdkl4	UTSW	17	80,851,081 (GRCm39)	missense	probably damaging	0.97
R4975:Cdkl4	UTSW	17	80,832,764 (GRCm39)	nonsense	probably null
R5246:Cdkl4	UTSW	17	80,846,913 (GRCm39)	splice site	probably null
R5708:Cdkl4	UTSW	17	80,846,951 (GRCm39)	missense	possibly damaging	0.94
R5914:Cdkl4	UTSW	17	80,855,120 (GRCm39)	critical splice donor site	probably null
R6464:Cdkl4	UTSW	17	80,832,781 (GRCm39)	missense	probably benign	0.00
R6882:Cdkl4	UTSW	17	80,851,175 (GRCm39)	missense	probably damaging	0.99
R7176:Cdkl4	UTSW	17	80,851,221 (GRCm39)	nonsense	probably null
R7582:Cdkl4	UTSW	17	80,841,264 (GRCm39)	missense	probably benign	0.42
R8713:Cdkl4	UTSW	17	80,841,292 (GRCm39)	missense	possibly damaging	0.86
R8737:Cdkl4	UTSW	17	80,858,258 (GRCm39)	missense	probably benign	0.01
R9161:Cdkl4	UTSW	17	80,851,120 (GRCm39)	missense	probably damaging	1.00
Z1177:Cdkl4	UTSW	17	80,858,287 (GRCm39)	missense	probably damaging	0.98

Predicted Primers

PCR Primer
(F):5'- ACTGGAGTGGGCTTCTGCTACAAC -3'
(R):5'- GAAATTCTCACACCTGCCTGGGAC -3'

Sequencing Primer
(F):5'- GCGGTATCTATCATACGGATGCTAC -3'
(R):5'- GCCTGGGACAGTTTTTCCAC -3'

Posted On

2013-06-12