Mutagenetix > Incidental Mutation

Incidental Mutation 'R8315:Cdk8'

641628

Institutional Source

Beutler Lab

Gene Symbol

Cdk8

Ensembl Gene

ENSMUSG00000029635

Gene Name

cyclin dependent kinase 8

Synonyms

MMRRC Submission

067720-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R8315 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

146168040-146239684 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 146205061 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Phenylalanine at position 21 (L21F)

Ref Sequence

ENSEMBL: ENSMUSP00000125668 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000031640] [ENSMUST00000159467] [ENSMUST00000161181] [ENSMUST00000161652] [ENSMUST00000162494]

AlphaFold

Q8R3L8

Predicted Effect

probably damaging
Transcript: ENSMUST00000031640
AA Change: L81F

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000031640
Gene: ENSMUSG00000029635
AA Change: L81F

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000159467
AA Change: L81F

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000124525
Gene: ENSMUSG00000029635
AA Change: L81F

Domain	Start	End	E-Value	Type
Pfam:Pkinase_Tyr	22	104	2e-8	PFAM
Pfam:Pkinase	22	108	1.8e-12	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000161181
AA Change: L21F

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

SMART Domains

Protein: ENSMUSP00000125668
Gene: ENSMUSG00000029635
AA Change: L21F

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 damaging
Transcript: ENSMUST00000161652
AA Change: L81F

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000124323
Gene: ENSMUSG00000029635
AA Change: L81F

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 damaging
Transcript: ENSMUST00000162494
AA Change: L81F

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000125516
Gene: ENSMUSG00000029635
AA Change: L81F

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: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.7%

Validation Efficiency

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: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca13	A	T	11: 9,328,460 (GRCm39)	E3511V	probably null	Het
Abca13	A	G	11: 9,535,502 (GRCm39)	T4709A	probably benign	Het
Aff1	G	T	5: 103,958,956 (GRCm39)	V342F	probably damaging	Het
Ahnak2	T	A	12: 112,745,756 (GRCm39)	Q1698L		Het
Ajap1	G	T	4: 153,516,813 (GRCm39)	T176K	probably damaging	Het
Alkal2	G	T	12: 30,934,850 (GRCm39)	G23V	probably damaging	Het
Cct3	A	G	3: 88,220,564 (GRCm39)	T259A	probably benign	Het
Cimip4	T	C	15: 78,262,686 (GRCm39)	R262G	probably benign	Het
Csf2rb	G	A	15: 78,231,581 (GRCm39)	G494D	possibly damaging	Het
Cstf3	G	T	2: 104,420,926 (GRCm39)		probably benign	Het
Cyp4f39	A	G	17: 32,701,176 (GRCm39)	D222G	probably benign	Het
Dcp2	T	C	18: 44,529,071 (GRCm39)	I62T	probably benign	Het
Dnaaf9	ATCCTCCTCCTCCTCCTCC	ATCCTCCTCCTCCTCC	2: 130,612,655 (GRCm39)		probably benign	Het
Dpp8	T	C	9: 64,988,133 (GRCm39)	*893Q	probably null	Het
Dpyd	A	T	3: 119,108,534 (GRCm39)	H859L	probably benign	Het
Dst	T	C	1: 34,323,501 (GRCm39)		probably null	Het
Dynlt2a2	A	G	17: 15,190,717 (GRCm39)	Y81H	probably damaging	Het
Egfr	A	G	11: 16,825,027 (GRCm39)	I456V	probably benign	Het
Elf3	A	G	1: 135,184,314 (GRCm39)	F185L	probably benign	Het
Emx1	A	G	6: 85,171,088 (GRCm39)	T164A	possibly damaging	Het
Fras1	G	A	5: 96,891,041 (GRCm39)	V2857M	probably damaging	Het
Gba2	AAAGAACCGTGTATACCGCCTGGGATGGAAAGAA	AAA	4: 43,569,937 (GRCm39)		probably null	Het
Gda	T	A	19: 21,394,435 (GRCm39)	T215S	probably benign	Het
Gm14443	C	T	2: 175,013,640 (GRCm39)		probably null	Het
Gpr152	C	T	19: 4,193,469 (GRCm39)	P337S	probably damaging	Het
H2-T10	A	G	17: 36,429,905 (GRCm39)	I296T	probably benign	Het
Hoxd11	G	A	2: 74,513,466 (GRCm39)	E244K	probably benign	Het
Inka1	C	A	9: 107,861,506 (GRCm39)	S270I	probably damaging	Het
Kazn	C	T	4: 141,869,002 (GRCm39)	D325N		Het
Lama2	T	C	10: 27,298,655 (GRCm39)	N147S	probably damaging	Het
Lamc1	A	T	1: 153,119,167 (GRCm39)	N817K	probably benign	Het
Met	T	C	6: 17,533,956 (GRCm39)	S636P	probably damaging	Het
Mrgpra3	A	T	7: 47,251,051 (GRCm39)	M1K	probably null	Het
Myh15	C	A	16: 48,940,381 (GRCm39)	T777N	probably damaging	Het
Or10ag2	C	A	2: 87,248,995 (GRCm39)	A201D	probably damaging	Het
Or6c209	G	A	10: 129,483,522 (GRCm39)	C175Y	probably benign	Het
Or8c13	T	C	9: 38,091,505 (GRCm39)	T205A	probably benign	Het
Pbx2	A	G	17: 34,811,707 (GRCm39)	I60M	probably damaging	Het
Phf8-ps	C	A	17: 33,286,038 (GRCm39)	A255S	probably benign	Het
Pla2g4a	T	C	1: 149,761,965 (GRCm39)	N164S	probably benign	Het
Poln	A	G	5: 34,266,717 (GRCm39)	M480T	probably benign	Het
Ppp2r2a	T	C	14: 67,261,177 (GRCm39)	N181S	probably damaging	Het
Ppp3r2	A	C	4: 49,681,705 (GRCm39)	F82V	probably damaging	Het
Prox2	A	G	12: 85,142,182 (GRCm39)	V7A	probably benign	Het
Ptpn3	A	T	4: 57,270,063 (GRCm39)	I33K	possibly damaging	Het
Rad21l	A	T	2: 151,497,160 (GRCm39)	M318K	probably benign	Het
Rftn1	A	G	17: 50,309,665 (GRCm39)	S445P	possibly damaging	Het
Rsf1	CGGCGGCGG	CGGCGGCGGGGGCGGCGG	7: 97,229,130 (GRCm39)		probably benign	Het
Rtp4	C	T	16: 23,431,998 (GRCm39)	P177S	possibly damaging	Het
Saa4	T	A	7: 46,379,052 (GRCm39)	N96I	possibly damaging	Het
Shb	A	G	4: 45,489,079 (GRCm39)	Y266H	probably damaging	Het
Slc45a4	T	G	15: 73,461,405 (GRCm39)	Y88S	probably damaging	Het
Tbccd1	A	G	16: 22,641,564 (GRCm39)	M312T	probably damaging	Het
Tecta	C	T	9: 42,299,121 (GRCm39)		probably null	Het
Tle1	A	T	4: 72,044,428 (GRCm39)	C526*	probably null	Het
Tmem87a	C	T	2: 120,234,441 (GRCm39)	G34D	probably damaging	Het
Trav13d-1	C	A	14: 53,089,059 (GRCm39)	Q23K	probably benign	Het
Txndc11	G	T	16: 10,893,465 (GRCm39)	T755N	possibly damaging	Het
Vmn1r223	A	G	13: 23,434,339 (GRCm39)	D311G	probably damaging	Het
Vmn2r66	T	A	7: 84,643,932 (GRCm39)	Y826F	possibly damaging	Het
Wdr90	A	T	17: 26,064,399 (GRCm39)	M1824K	probably benign	Het
Zfp523	G	A	17: 28,421,562 (GRCm39)	G440D	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
R4157:Cdk8	UTSW	5	146,236,259 (GRCm39)	intron	probably benign
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
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'- ACTTCCAAGCAGCCAGGTAG -3'
(R):5'- AAAAGCCTCCAGGTTGGCAG -3'

Sequencing Primer
(F):5'- TAGAAATGCCTGCCATGCTG -3'
(R):5'- ACACGGACTGTTACTCTGTAAGG -3'

Posted On

2020-07-28