Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02000:Cdkl4'

183021

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 #

IGL02000

Quality Score

Status

Chromosome

Chromosomal Location

80830979-80885242 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 80851192 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 170 (E170G)

Ref Sequence

ENSEMBL: ENSMUSP00000083732 (fasta)

Gene Model

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

AlphaFold

Q3TZA2

Predicted Effect

probably damaging
Transcript: ENSMUST00000086545
AA Change: E170G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000083732
Gene: ENSMUSG00000033966
AA Change: E170G

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: 42 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Arid5a	T	C	1: 36,358,578 (GRCm39)	F450S	probably damaging	Het
Astn1	C	T	1: 158,502,184 (GRCm39)	R1133C	probably damaging	Het
Cd101	G	A	3: 100,919,398 (GRCm39)	P568L	probably benign	Het
Chit1	A	G	1: 134,074,413 (GRCm39)	E240G	probably benign	Het
Duox2	T	C	2: 122,121,190 (GRCm39)	T741A	probably benign	Het
Eef2	T	C	10: 81,015,845 (GRCm39)	V427A	probably benign	Het
Ewsr1	T	C	11: 5,038,077 (GRCm39)	D105G	probably damaging	Het
Ftsj3	C	T	11: 106,141,233 (GRCm39)	R629Q	probably benign	Het
Gm10406	C	T	14: 18,341,703 (GRCm39)	G181E	probably benign	Het
Ilk	A	G	7: 105,390,376 (GRCm39)	H185R	probably benign	Het
Lamc1	A	T	1: 153,116,179 (GRCm39)	C1001S	probably damaging	Het
Mcidas	T	C	13: 113,133,974 (GRCm39)	S153P	probably benign	Het
Mtcl1	T	C	17: 66,661,185 (GRCm39)	E931G	probably benign	Het
Myo10	C	T	15: 25,808,152 (GRCm39)	R1925C	probably damaging	Het
Notch3	A	G	17: 32,341,716 (GRCm39)	V2012A	probably damaging	Het
Or6c76	C	A	10: 129,611,938 (GRCm39)	H67N	probably benign	Het
Parp6	A	G	9: 59,556,175 (GRCm39)	M542V	probably benign	Het
Rab27a	G	A	9: 72,992,254 (GRCm39)	G94D	probably damaging	Het
Ralgapb	A	G	2: 158,296,034 (GRCm39)		probably benign	Het
Rassf4	T	C	6: 116,622,933 (GRCm39)	E26G	probably benign	Het
Rnf166	C	T	8: 123,193,961 (GRCm39)	D221N	probably damaging	Het
Rptn	G	T	3: 93,303,735 (GRCm39)	G356V	probably benign	Het
Rwdd2b	T	A	16: 87,233,828 (GRCm39)		probably benign	Het
Scfd1	T	A	12: 51,460,900 (GRCm39)	S337T	probably benign	Het
Sel1l3	T	A	5: 53,302,835 (GRCm39)	D678V	probably damaging	Het
Sidt1	A	T	16: 44,106,732 (GRCm39)	F233I	probably damaging	Het
Slc12a4	T	C	8: 106,671,864 (GRCm39)	D917G	probably damaging	Het
Slc22a2	A	T	17: 12,803,270 (GRCm39)	I35F	possibly damaging	Het
Smco1	A	T	16: 32,092,751 (GRCm39)	T141S	possibly damaging	Het
Svs6	T	C	2: 164,159,352 (GRCm39)		probably benign	Het
Syne2	C	T	12: 76,062,419 (GRCm39)	A4247V	probably damaging	Het
Tacc2	T	A	7: 130,330,898 (GRCm39)		probably null	Het
Tgm4	A	T	9: 122,885,531 (GRCm39)	I358F	probably damaging	Het
Thnsl2	A	G	6: 71,111,203 (GRCm39)	S222P	probably damaging	Het
Tmem25	G	A	9: 44,709,568 (GRCm39)	R78*	probably null	Het
Ube2l6	T	C	2: 84,639,506 (GRCm39)		probably benign	Het
Usp10	T	A	8: 120,675,480 (GRCm39)	Y63N	possibly damaging	Het
Vit	A	G	17: 78,912,915 (GRCm39)	I283V	possibly damaging	Het
Vmn1r214	G	A	13: 23,219,270 (GRCm39)	V255I	possibly damaging	Het
Xpo1	A	G	11: 23,246,003 (GRCm39)	R1038G	probably damaging	Het
Ybx1	T	A	4: 119,139,509 (GRCm39)	N50I	probably damaging	Het
Zhx1	T	C	15: 57,917,683 (GRCm39)	K188E	probably damaging	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
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

2014-05-07