Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00236:Cdkl4'

29217

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Cdkl4

Ensembl Gene

ENSMUSG00000033966

Gene Name

cyclin dependent kinase like 4

Synonyms

LOC381113

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL00236

Quality Score

Status

Chromosome

Chromosomal Location

80830979-80885242 bp(-) (GRCm39)

Type of Mutation

utr 3 prime

DNA Base Change (assembly)

A to T at 80832705 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000083732 (fasta)

Gene Model

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

AlphaFold

Q3TZA2

Predicted Effect

probably benign
Transcript: ENSMUST00000086545

SMART Domains

Protein: ENSMUSP00000083732
Gene: ENSMUSG00000033966

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

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 30 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Alkbh1	A	G	12: 87,490,467 (GRCm39)	V43A	probably damaging	Het
Ankrd17	A	T	5: 90,381,787 (GRCm39)	S2460T	probably damaging	Het
Ap4e1	T	C	2: 126,870,201 (GRCm39)	L176P	probably damaging	Het
Caprin2	A	G	6: 148,744,569 (GRCm39)	I952T	probably damaging	Het
Cfap44	T	C	16: 44,227,767 (GRCm39)	L156P	probably damaging	Het
Dock9	A	G	14: 121,905,880 (GRCm39)	L90S	probably benign	Het
Efhb	T	C	17: 53,769,481 (GRCm39)	D276G	probably damaging	Het
Ep300	A	G	15: 81,525,619 (GRCm39)	D1481G	unknown	Het
Fam83b	T	C	9: 76,398,260 (GRCm39)	I948V	probably benign	Het
Fbxl5	G	T	5: 43,922,678 (GRCm39)	H247N	probably damaging	Het
Fn1	A	G	1: 71,692,032 (GRCm39)	I37T	probably benign	Het
Hfe	C	T	13: 23,889,835 (GRCm39)		probably benign	Het
Ighv1-36	A	T	12: 114,843,770 (GRCm39)	L29Q	possibly damaging	Het
Inpp5e	G	T	2: 26,298,533 (GRCm39)	Q23K	probably benign	Het
L3mbtl1	T	C	2: 162,808,983 (GRCm39)	S619P	probably damaging	Het
Myh8	T	C	11: 67,174,644 (GRCm39)	I253T	probably damaging	Het
Ntrk1	C	T	3: 87,698,745 (GRCm39)	V99M	possibly damaging	Het
Or51s1	T	C	7: 102,558,479 (GRCm39)	H189R	probably damaging	Het
Or5b124	A	T	19: 13,610,903 (GRCm39)	I143F	probably benign	Het
Pard6a	T	C	8: 106,429,446 (GRCm39)	S135P	probably damaging	Het
Prss43	G	T	9: 110,658,538 (GRCm39)	Q279H	probably benign	Het
Ptcd2	T	C	13: 99,466,573 (GRCm39)	N207D	probably benign	Het
Ros1	T	C	10: 52,070,986 (GRCm39)	I23V	probably benign	Het
Scg5	A	G	2: 113,657,915 (GRCm39)		probably benign	Het
Sh3bp5	T	A	14: 31,101,347 (GRCm39)	K212*	probably null	Het
Slc25a30	C	T	14: 76,004,365 (GRCm39)	G244D	possibly damaging	Het
Slc38a10	T	C	11: 119,997,428 (GRCm39)	R689G	probably damaging	Het
Spatc1	A	G	15: 76,168,994 (GRCm39)	D321G	probably damaging	Het
Stat4	A	T	1: 52,142,037 (GRCm39)	Y628F	probably damaging	Het
Wdr35	G	A	12: 9,069,900 (GRCm39)	V813I	probably benign	Het

Other mutations in Cdkl4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
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
R0507:Cdkl4	UTSW	17	80,851,237 (GRCm39)	missense	probably benign	0.06
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

Posted On

2013-04-17