Mutagenetix > Incidental Mutation

Incidental Mutation 'R4157:Cdk8'

315575

Institutional Source

Beutler Lab

Gene Symbol

Cdk8

Ensembl Gene

ENSMUSG00000029635

Gene Name

cyclin dependent kinase 8

Synonyms

MMRRC Submission

041000-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R4157 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

146168040-146239684 bp(+) (GRCm39)

Type of Mutation

intron

DNA Base Change (assembly)

A to T at 146236259 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000125516 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000031640] [ENSMUST00000161181] [ENSMUST00000162494]

AlphaFold

Q8R3L8

Predicted Effect

probably benign
Transcript: ENSMUST00000031640

SMART Domains

Protein: ENSMUSP00000031640
Gene: ENSMUSG00000029635

Domain	Start	End	E-Value	Type
S_TKc	21	335	1.89e-83	SMART
low complexity region	372	391	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000159615

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000160924

Predicted Effect

probably benign
Transcript: ENSMUST00000161181

SMART Domains

Protein: ENSMUSP00000125668
Gene: ENSMUSG00000029635

Domain	Start	End	E-Value	Type
Pfam:Pkinase_Tyr	1	179	6e-16	PFAM
Pfam:Pkinase	1	270	1.6e-44	PFAM
low complexity region	307	326	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000162494

SMART Domains

Protein: ENSMUSP00000125516
Gene: ENSMUSG00000029635

Domain	Start	End	E-Value	Type
Pfam:Pkinase	22	153	5.9e-25	PFAM
Pfam:Pkinase_Tyr	22	156	1.5e-15	PFAM

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.6%
20x: 96.1%

Validation Efficiency

95% (52/55)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the cyclin-dependent protein kinase (CDK) family. CDK family members are known to be important regulators of cell cycle progression. This kinase and its regulatory subunit, cyclin C, are components of the Mediator transcriptional regulatory complex, involved in both transcriptional activation and repression by phosphorylation of the carboxy-terminal domain of the largest subunit of RNA polymerase II. This kinase regulates transcription by targeting the cyclin-dependent kinase 7 subunits of the general transcription initiation factor IIH, thus providing a link between the Mediator complex and the basal transcription machinery. Multiple pseudogenes of this gene have been identified. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2016]
PHENOTYPE: Mice homozygous for a gene-trapped allele die prior to implantation exhibiting fragmented blastomeres and failure to undergo compaction. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 47 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts7	G	T	9: 90,070,414 (GRCm39)	R585L	probably damaging	Het
Adamtsl5	C	T	10: 80,181,156 (GRCm39)	R75Q	probably null	Het
Ankrd26	T	A	6: 118,484,782 (GRCm39)	Q1485L	probably damaging	Het
Apbb2	G	A	5: 66,459,947 (GRCm39)	R717*	probably null	Het
Arl6ip1	AAAATAAATAAATAAATAAATAAATA	AAAATAAATAAATAAATAAATAAATAAATA	7: 117,721,122 (GRCm39)		probably benign	Het
Atp8b5	A	G	4: 43,365,591 (GRCm39)	E735G	probably damaging	Het
Bcl11b	A	T	12: 107,883,684 (GRCm39)		probably null	Het
C4b	A	G	17: 34,961,829 (GRCm39)	I139T	probably damaging	Het
Ccpg1	C	A	9: 72,919,449 (GRCm39)	Q355K	probably benign	Het
Ctif	T	C	18: 75,568,341 (GRCm39)	H599R	probably benign	Het
Degs1	A	G	1: 182,110,192 (GRCm39)	I26T	possibly damaging	Het
Dnajc4	T	C	19: 6,967,208 (GRCm39)	N72S	probably damaging	Het
Ecd	A	G	14: 20,374,632 (GRCm39)	S503P	probably damaging	Het
Gm3486	G	A	14: 41,208,343 (GRCm39)	L123F	probably benign	Het
Inpp5f	C	T	7: 128,281,423 (GRCm39)		probably benign	Het
Irx4	A	T	13: 73,413,662 (GRCm39)	Q44L	probably benign	Het
Krt9	T	A	11: 100,079,475 (GRCm39)	Y639F	unknown	Het
Lgals9	C	A	11: 78,863,933 (GRCm39)	V71L	possibly damaging	Het
Mdga1	T	C	17: 30,052,317 (GRCm39)	N143S	probably benign	Het
Ndufs4	A	T	13: 114,444,390 (GRCm39)	S129R	probably benign	Het
Nup50l	C	G	6: 96,142,264 (GRCm39)	W260S	possibly damaging	Het
Oog2	A	G	4: 143,920,523 (GRCm39)		probably benign	Het
Orm2	T	A	4: 63,282,222 (GRCm39)	F133L	probably null	Het
Pasd1	T	C	X: 70,983,161 (GRCm39)	C378R	possibly damaging	Het
Pidd1	A	G	7: 141,021,279 (GRCm39)	V333A	possibly damaging	Het
Ppp4r3a	A	G	12: 101,021,878 (GRCm39)	F341L	probably damaging	Het
Rab11fip1	A	T	8: 27,642,175 (GRCm39)	S875T	probably damaging	Het
Rpap1	C	T	2: 119,604,660 (GRCm39)	R416H	probably damaging	Het
Rpl31-ps17	C	T	12: 54,748,397 (GRCm39)		noncoding transcript	Het
Shroom3	G	T	5: 93,090,945 (GRCm39)	V1151F	probably damaging	Het
Snx22	T	C	9: 65,975,493 (GRCm39)	Y92C	probably damaging	Het
Srgn	A	G	10: 62,333,613 (GRCm39)	F55L	possibly damaging	Het
Swt1	A	T	1: 151,278,795 (GRCm39)	V454E	probably damaging	Het
Tmem54	G	A	4: 129,004,504 (GRCm39)	R151Q	probably damaging	Het
Tns1	T	A	1: 73,953,790 (GRCm39)	N1848Y	probably damaging	Het
Tns2	C	T	15: 102,017,369 (GRCm39)	R281C	probably damaging	Het
Top2b	A	G	14: 16,384,491 (GRCm38)	N80S	probably benign	Het
Trim7	T	C	11: 48,738,920 (GRCm39)	V313A	probably benign	Het
Uaca	A	G	9: 60,779,035 (GRCm39)	S1141G	probably benign	Het
Ubr3	T	C	2: 69,790,013 (GRCm39)		probably null	Het
Utp20	A	G	10: 88,597,729 (GRCm39)	V121A	probably benign	Het
Wdr20	G	A	12: 110,704,608 (GRCm39)	R49H	possibly damaging	Het
Ylpm1	T	C	12: 85,104,177 (GRCm39)		probably benign	Het
Zfp398	A	T	6: 47,812,843 (GRCm39)	T5S	probably benign	Het
Zfp410	G	A	12: 84,374,206 (GRCm39)	R181H	probably damaging	Het
Zfp523	C	T	17: 28,421,257 (GRCm39)	A367V	probably benign	Het
Zfp748	G	A	13: 67,690,225 (GRCm39)	S345L	possibly damaging	Het

Other mutations in Cdk8

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01476:Cdk8	APN	5	146,231,973 (GRCm39)	splice site	probably null
R0506:Cdk8	UTSW	5	146,235,682 (GRCm39)	missense	probably damaging	1.00
R1132:Cdk8	UTSW	5	146,236,625 (GRCm39)	missense	probably benign	0.09
R1513:Cdk8	UTSW	5	146,233,188 (GRCm39)	missense	possibly damaging	0.93
R2231:Cdk8	UTSW	5	146,168,414 (GRCm39)	start gained	probably benign
R3692:Cdk8	UTSW	5	146,220,478 (GRCm39)	nonsense	probably null
R4760:Cdk8	UTSW	5	146,229,476 (GRCm39)	missense	probably benign	0.15
R4804:Cdk8	UTSW	5	146,233,209 (GRCm39)	missense	probably damaging	1.00
R5119:Cdk8	UTSW	5	146,220,437 (GRCm39)	critical splice acceptor site	probably null
R6633:Cdk8	UTSW	5	146,235,656 (GRCm39)	nonsense	probably null
R6755:Cdk8	UTSW	5	146,205,126 (GRCm39)	missense	probably damaging	1.00
R7442:Cdk8	UTSW	5	146,229,579 (GRCm39)	critical splice donor site	probably null
R7936:Cdk8	UTSW	5	146,236,644 (GRCm39)	missense	possibly damaging	0.49
R8083:Cdk8	UTSW	5	146,205,100 (GRCm39)	missense	probably damaging	1.00
R8315:Cdk8	UTSW	5	146,205,061 (GRCm39)	missense	probably damaging	1.00
R9159:Cdk8	UTSW	5	146,168,549 (GRCm39)	missense	probably damaging	1.00
R9643:Cdk8	UTSW	5	146,235,664 (GRCm39)	missense	probably damaging	1.00
R9738:Cdk8	UTSW	5	146,236,539 (GRCm39)	missense	probably benign	0.08
Z1177:Cdk8	UTSW	5	146,238,447 (GRCm39)	missense	probably benign	0.00
Z1177:Cdk8	UTSW	5	146,236,606 (GRCm39)	missense	probably damaging	0.99
Z1177:Cdk8	UTSW	5	146,236,605 (GRCm39)	missense	probably damaging	0.96

Predicted Primers

PCR Primer
(F):5'- TAGTGGATGAGAGAGCTGTCC -3'
(R):5'- GAACAGAAACTGGCTGCGTG -3'

Sequencing Primer
(F):5'- ATGAGAGAGCTGTCCTAGTTGG -3'
(R):5'- GAAGGCACTTCCAACTGT -3'

Posted On

2015-05-14