Mutagenetix > Incidental Mutation

Incidental Mutation 'R4804:Cdk8'

370540

Institutional Source

Beutler Lab

Gene Symbol

Cdk8

Ensembl Gene

ENSMUSG00000029635

Gene Name

cyclin dependent kinase 8

Synonyms

MMRRC Submission

041998-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R4804 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

146168040-146239684 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 146233209 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Glutamic Acid at position 236 (K236E)

Ref Sequence

ENSEMBL: ENSMUSP00000125668 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000031640] [ENSMUST00000161181] [ENSMUST00000161652] [ENSMUST00000162494]

AlphaFold

Q8R3L8

Predicted Effect

probably damaging
Transcript: ENSMUST00000031640
AA Change: K301E

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000031640
Gene: ENSMUSG00000029635
AA Change: K301E

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 damaging
Transcript: ENSMUST00000161181
AA Change: K236E

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000125668
Gene: ENSMUSG00000029635
AA Change: K236E

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: ENSMUST00000161652

SMART Domains

Protein: ENSMUSP00000124323
Gene: ENSMUSG00000029635

Domain	Start	End	E-Value	Type
Pfam:Pkinase_Tyr	22	215	2e-22	PFAM
Pfam:Pkinase	23	226	5.2e-42	PFAM

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000198861

Meta Mutation Damage Score

0.1585

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.9%
20x: 94.2%

Validation Efficiency

99% (78/79)

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: 67 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930527J03Rik	T	C	1: 178,103,675 (GRCm39)		noncoding transcript	Het
Ap4e1	T	C	2: 126,885,678 (GRCm39)		probably null	Het
Apbb1ip	T	C	2: 22,713,610 (GRCm39)		probably null	Het
Apol11b	T	A	15: 77,519,466 (GRCm39)	I205F	probably damaging	Het
Arl6ip1	A	T	7: 117,728,775 (GRCm39)		probably null	Het
Barx2	A	G	9: 31,758,108 (GRCm39)	S277P	unknown	Het
BC035947	T	G	1: 78,474,513 (GRCm39)	D673A	probably damaging	Het
Cacna2d1	A	T	5: 16,564,206 (GRCm39)	I930F	probably damaging	Het
Cd226	T	C	18: 89,225,292 (GRCm39)	V63A	possibly damaging	Het
Cds1	T	C	5: 101,969,389 (GRCm39)	L449P	probably damaging	Het
Celsr1	T	C	15: 85,822,154 (GRCm39)	D1721G	possibly damaging	Het
Chtf18	T	C	17: 25,938,231 (GRCm39)	D934G	probably benign	Het
Clk4	T	A	11: 51,172,150 (GRCm39)	L271Q	probably damaging	Het
Cnnm1	C	A	19: 43,480,014 (GRCm39)	T853N	probably benign	Het
Col26a1	A	G	5: 136,865,579 (GRCm39)	V103A	probably damaging	Het
D5Ertd579e	C	T	5: 36,786,996 (GRCm39)		probably null	Het
Ddx39a	A	G	8: 84,447,724 (GRCm39)	K190E	probably damaging	Het
Dgkg	G	A	16: 22,393,943 (GRCm39)		probably benign	Het
Dnajc14	A	T	10: 128,649,926 (GRCm39)	H477L	probably benign	Het
Dytn	A	G	1: 63,682,525 (GRCm39)	V374A	probably benign	Het
Gfra2	T	C	14: 71,163,361 (GRCm39)	Y215H	possibly damaging	Het
Grik1	A	G	16: 87,754,457 (GRCm39)	I376T	probably damaging	Het
Gzmm	A	T	10: 79,530,890 (GRCm39)	T231S	probably benign	Het
Hecw1	A	G	13: 14,480,570 (GRCm39)	S499P	probably benign	Het
Hhla1	T	C	15: 65,794,948 (GRCm39)	I511V	probably benign	Het
Ifnlr1	A	G	4: 135,432,647 (GRCm39)	D361G	possibly damaging	Het
Ikzf3	A	G	11: 98,381,400 (GRCm39)	V60A	probably benign	Het
Ipo4	G	C	14: 55,868,313 (GRCm39)	R495G	possibly damaging	Het
Kat2b-ps	A	T	5: 93,540,392 (GRCm39)		noncoding transcript	Het
Kdm1b	C	T	13: 47,216,553 (GRCm39)	R308W	probably damaging	Het
Mblac2	T	A	13: 81,898,428 (GRCm39)	L268*	probably null	Het
Mipep	C	T	14: 61,040,401 (GRCm39)	T307I	probably damaging	Het
Ms4a14	A	G	19: 11,281,404 (GRCm39)	S385P	possibly damaging	Het
Myh2	T	A	11: 67,077,328 (GRCm39)	I821N	possibly damaging	Het
Myo5c	A	T	9: 75,152,306 (GRCm39)	I65F	probably damaging	Het
Neurog1	A	G	13: 56,399,579 (GRCm39)	L56P	probably benign	Het
Nrsn1	C	A	13: 25,437,580 (GRCm39)	C116F	probably benign	Het
Nscme3l	A	T	19: 5,553,028 (GRCm39)	M251K	possibly damaging	Het
Nynrin	T	C	14: 56,102,326 (GRCm39)	V665A	probably benign	Het
Or10w1	A	G	19: 13,631,882 (GRCm39)	M30V	probably benign	Het
Or2w1b	T	A	13: 21,300,175 (GRCm39)	Y104*	probably null	Het
Or5ak20	T	C	2: 85,183,425 (GRCm39)	I282V	probably benign	Het
Pakap	T	C	4: 57,854,688 (GRCm39)	S67P	probably benign	Het
Pcdhac1	C	T	18: 37,224,231 (GRCm39)	S348L	possibly damaging	Het
Pcnx4	T	C	12: 72,620,976 (GRCm39)	I932T	probably benign	Het
Pfkl	G	A	10: 77,827,228 (GRCm39)	T486I	probably benign	Het
Pi4ka	A	T	16: 17,126,025 (GRCm39)	M1115K	possibly damaging	Het
Rilpl1	A	G	5: 124,631,828 (GRCm39)	W173R	probably damaging	Het
Rnf111	A	T	9: 70,338,239 (GRCm39)	C900S	possibly damaging	Het
Ryr2	A	G	13: 11,731,983 (GRCm39)	V2319A	probably damaging	Het
Scnn1g	AATCCTGCAGGTGA	AA	7: 121,362,303 (GRCm39)		probably null	Het
Slc25a13	A	T	6: 6,109,213 (GRCm39)	L383H	probably damaging	Het
Slco2a1	C	T	9: 102,950,383 (GRCm39)	P325L	probably damaging	Het
Stoml2	T	C	4: 43,029,882 (GRCm39)	N162S	probably benign	Het
Syne1	G	T	10: 5,299,310 (GRCm39)	Q982K	possibly damaging	Het
Tbc1d31	C	T	15: 57,814,502 (GRCm39)	Q568*	probably null	Het
Tbc1d9	G	A	8: 83,982,554 (GRCm39)		probably null	Het
Tbx3	A	G	5: 119,818,577 (GRCm39)	D384G	possibly damaging	Het
Tecta	T	C	9: 42,309,533 (GRCm39)	I14V	probably benign	Het
Tgm1	A	T	14: 55,943,076 (GRCm39)	V588E	probably benign	Het
Tpk1	A	C	6: 43,570,012 (GRCm39)		probably benign	Het
Tspear	A	T	10: 77,612,791 (GRCm39)		probably null	Het
Ubxn10	G	T	4: 138,448,515 (GRCm39)	Q54K	possibly damaging	Het
Ubxn4	C	T	1: 128,194,141 (GRCm39)	R312*	probably null	Het
Vmn1r230	A	T	17: 21,067,345 (GRCm39)	K178M	probably damaging	Het
Zfp143	G	A	7: 109,687,976 (GRCm39)	V445I	probably damaging	Het
Zfp688	C	A	7: 127,021,057 (GRCm39)	W40C	probably 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
R4157:Cdk8	UTSW	5	146,236,259 (GRCm39)	intron	probably benign
R4760:Cdk8	UTSW	5	146,229,476 (GRCm39)	missense	probably benign	0.15
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'- CTGCTATTTTATGCTGCTCAGAG -3'
(R):5'- TCAGGGTGACTATCTAACGTGAAC -3'

Sequencing Primer
(F):5'- CTCAGAGCATAGTTGATGTGTAGC -3'
(R):5'- TGACTATCTAACGTGAACAAGGC -3'

Posted On

2016-02-04