Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01752:Cdkl4'

153411

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 #

IGL01752

Quality Score

Status

Chromosome

Chromosomal Location

80830979-80885242 bp(-) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

T to A at 80851043 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

Meta Mutation Damage Score

0.0898

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 31 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abtb3	C	A	10: 85,490,366 (GRCm39)	Q1011K	probably damaging	Het
Akap11	A	T	14: 78,747,318 (GRCm39)		probably null	Het
Cdh4	A	T	2: 179,532,677 (GRCm39)	N713I	probably damaging	Het
Ddx21	A	G	10: 62,423,286 (GRCm39)	S639P	probably damaging	Het
Dock3	T	C	9: 106,902,512 (GRCm39)		probably benign	Het
Fan1	G	A	7: 64,022,542 (GRCm39)	T237M	probably benign	Het
Fbn2	T	A	18: 58,209,049 (GRCm39)		probably null	Het
Fhad1	T	C	4: 141,700,210 (GRCm39)	K347E	possibly damaging	Het
Gucy2c	C	A	6: 136,747,106 (GRCm39)	A118S	probably benign	Het
Itgb4	G	A	11: 115,879,752 (GRCm39)	V635I	probably damaging	Het
Lox	A	G	18: 52,653,926 (GRCm39)	V390A	possibly damaging	Het
Lyn	A	T	4: 3,743,286 (GRCm39)	M69L	probably benign	Het
Mrgprb5	A	G	7: 47,818,415 (GRCm39)	F107L	probably benign	Het
Neurod2	T	C	11: 98,218,201 (GRCm39)	E321G	possibly damaging	Het
Or8b48	C	T	9: 38,492,809 (GRCm39)	P79S	probably damaging	Het
Pcnx3	T	A	19: 5,715,365 (GRCm39)	K1962*	probably null	Het
Pde3a	T	C	6: 141,433,339 (GRCm39)		probably benign	Het
Phf10	A	G	17: 15,175,212 (GRCm39)		probably benign	Het
Prune2	A	G	19: 17,101,267 (GRCm39)	E2257G	possibly damaging	Het
Rock1	A	G	18: 10,079,113 (GRCm39)		probably null	Het
Slc4a11	T	G	2: 130,530,065 (GRCm39)	T238P	probably damaging	Het
Ssu2	T	A	6: 112,352,553 (GRCm39)	K279N	probably damaging	Het
Tead3	A	T	17: 28,552,568 (GRCm39)	I275N	probably damaging	Het
Ttn	T	C	2: 76,575,137 (GRCm39)	E25252G	probably damaging	Het
Twsg1	T	C	17: 66,236,779 (GRCm39)	T84A	probably benign	Het
Ugt3a1	A	T	15: 9,306,232 (GRCm39)	K127M	probably damaging	Het
Unc13c	A	T	9: 73,839,093 (GRCm39)	M586K	probably benign	Het
Vmn1r195	G	T	13: 22,463,421 (GRCm39)	C297F	probably benign	Het
Vps13c	T	A	9: 67,855,510 (GRCm39)	I2525N	probably damaging	Het
Zdhhc2	G	A	8: 40,926,042 (GRCm39)	A346T	probably benign	Het
Zfp52	T	G	17: 21,780,412 (GRCm39)	C87G	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
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

2014-02-04