Mutagenetix > Incidental Mutation

Incidental Mutation 'R4994:Cdk7'

385122

Institutional Source

Beutler Lab

Gene Symbol

Cdk7

Ensembl Gene

ENSMUSG00000069089

Gene Name

cyclin dependent kinase 7

Synonyms

CRK4 PK (CDC2-related-kinase-4 protein kinase), Cdkn7, Crk4

MMRRC Submission

042588-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R4994 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

100839139-100867447 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 100854103 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Tyrosine at position 129 (H129Y)

Ref Sequence

ENSEMBL: ENSMUSP00000088845 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000091299] [ENSMUST00000225990]

AlphaFold

Q03147

Predicted Effect

probably damaging
Transcript: ENSMUST00000091299
AA Change: H129Y

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

SMART Domains

Protein: ENSMUSP00000088845
Gene: ENSMUSG00000069089
AA Change: H129Y

Domain	Start	End	E-Value	Type
S_TKc	12	295	7.59e-97	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000225056

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000225578

Predicted Effect

probably benign
Transcript: ENSMUST00000225990

Meta Mutation Damage Score

0.9659

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.8%
20x: 94.0%

Validation Efficiency

100% (79/79)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a member of the cyclin-dependent protein kinase (CDK) family. CDK family members are highly similar to the gene products of Saccharomyces cerevisiae cdc28, and Schizosaccharomyces pombe cdc2, and are known to be important regulators of cell cycle progression. This protein forms a trimeric complex with cyclin H and MAT1, which functions as a Cdk-activating kinase (CAK). It is an essential component of the transcription factor TFIIH, that is involved in transcription initiation and DNA repair. This protein is thought to serve as a direct link between the regulation of transcription and the cell cycle. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for null allele exhibit abnormal trophoblast layer morphology, abnormal inner cell mass apoptosis, and complete embryonic lethality during peri-implantation stages. Homoyzgous null MEFs display absent fibroblast proliferation. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 76 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700030K09Rik	A	G	8: 73,208,962 (GRCm39)	E364G	probably benign	Het
4930505A04Rik	C	T	11: 30,376,349 (GRCm39)	V173M	probably damaging	Het
Abcb4	A	G	5: 8,978,524 (GRCm39)	T557A	probably damaging	Het
Acadm	C	T	3: 153,635,221 (GRCm39)	E298K	probably damaging	Het
Adrb3	T	C	8: 27,717,855 (GRCm39)		probably null	Het
Aldh1b1	A	G	4: 45,803,128 (GRCm39)	Y222C	possibly damaging	Het
Ankrd6	A	G	4: 32,860,387 (GRCm39)	Y19H	probably damaging	Het
Arhgap21	T	A	2: 20,854,701 (GRCm39)	T1554S	probably benign	Het
BC043934	T	C	9: 96,319,173 (GRCm39)		noncoding transcript	Het
Birc6	A	G	17: 74,901,319 (GRCm39)		probably benign	Het
Blm	A	C	7: 80,108,573 (GRCm39)	F1357C	probably benign	Het
Cd209a	T	C	8: 3,797,713 (GRCm39)		probably null	Het
Clec14a	G	T	12: 58,315,070 (GRCm39)	P184Q	probably damaging	Het
Cma1	T	A	14: 56,179,128 (GRCm39)	I243F	probably damaging	Het
Cntnap3	G	T	13: 64,909,798 (GRCm39)	T769K	possibly damaging	Het
Col5a1	A	C	2: 27,922,751 (GRCm39)	K273T	possibly damaging	Het
Csnk1e	A	G	15: 79,309,129 (GRCm39)	Y266H	probably damaging	Het
Cyb5d1	A	G	11: 69,284,597 (GRCm39)	L185S	probably damaging	Het
Dennd5b	T	C	6: 148,942,998 (GRCm39)		probably null	Het
Dipk2a	C	A	9: 94,419,486 (GRCm39)	R148L	probably benign	Het
Drp2	G	A	X: 133,342,065 (GRCm39)	R567H	probably damaging	Homo
Dzank1	T	G	2: 144,364,486 (GRCm39)	D37A	probably damaging	Het
Echdc2	A	G	4: 108,022,825 (GRCm39)	I34V	probably benign	Het
Esm1	A	T	13: 113,349,965 (GRCm39)	R128S	probably benign	Het
Fbh1	T	A	2: 11,769,041 (GRCm39)	I251F	probably damaging	Het
Fbrsl1	A	G	5: 110,595,817 (GRCm39)	S73P	probably damaging	Het
Fbxo6	A	T	4: 148,233,948 (GRCm39)	S49R	probably damaging	Het
Gm17093	A	T	14: 44,756,779 (GRCm39)	Q82L	probably damaging	Het
Hmcn2	T	C	2: 31,348,067 (GRCm39)		probably null	Het
Hspa4l	C	A	3: 40,700,081 (GRCm39)		probably benign	Het
Il3ra	G	A	14: 14,351,080 (GRCm38)	A201T	probably benign	Het
Irx5	T	A	8: 93,087,409 (GRCm39)	V447E	probably damaging	Het
Kif14	G	T	1: 136,410,697 (GRCm39)	L668F	probably damaging	Het
Lag3	T	A	6: 124,881,416 (GRCm39)	R519W	unknown	Het
Lgr4	A	G	2: 109,842,283 (GRCm39)	N756S	probably damaging	Het
Lingo4	A	G	3: 94,309,848 (GRCm39)	H262R	probably benign	Het
Lingo4	T	A	3: 94,310,308 (GRCm39)	H415Q	probably benign	Het
Lkaaear1	C	A	2: 181,339,376 (GRCm39)	G25*	probably null	Het
Maco1	A	G	4: 134,555,610 (GRCm39)	Y288H	probably damaging	Het
Marf1	T	C	16: 13,932,095 (GRCm39)	K1641E	probably benign	Het
Mtfmt	T	C	9: 65,351,133 (GRCm39)		probably benign	Het
Mtif3	G	A	5: 146,893,598 (GRCm39)	T203M	probably benign	Het
Mycbp2	A	G	14: 103,407,430 (GRCm39)	I2740T	probably benign	Het
Nrdc	A	G	4: 108,903,809 (GRCm39)	T720A	probably benign	Het
Or2d2	T	C	7: 106,728,271 (GRCm39)	T110A	probably benign	Het
Peak1	T	A	9: 56,148,560 (GRCm39)	D32V	possibly damaging	Het
Pigr	G	A	1: 130,769,554 (GRCm39)	D122N	probably benign	Het
Plekhg3	A	G	12: 76,612,311 (GRCm39)	R391G	possibly damaging	Het
Ppfia3	T	C	7: 44,990,542 (GRCm39)	D919G	probably damaging	Het
Pramel23	T	A	4: 143,424,939 (GRCm39)	Q168L	possibly damaging	Het
Rnase2b	T	A	14: 51,400,208 (GRCm39)	D96E	possibly damaging	Het
Rsf1	CGGCGGC	CGGCGGCCGCGGCGGC	7: 97,229,130 (GRCm39)		probably benign	Het
Rsf1	G	GACGGCGGCT	7: 97,229,116 (GRCm39)		probably benign	Het
Serpina3f	A	G	12: 104,186,615 (GRCm39)	T394A	probably benign	Het
Six3	A	G	17: 85,928,720 (GRCm39)	N18S	possibly damaging	Het
Slc12a5	T	A	2: 164,825,285 (GRCm39)		probably null	Het
Slc35f6	A	G	5: 30,805,427 (GRCm39)	N21S	probably damaging	Het
Slc39a6	A	T	18: 24,729,351 (GRCm39)	I454N	probably damaging	Het
Slc40a1	T	A	1: 45,948,824 (GRCm39)	E485D	probably damaging	Het
Sort1	G	A	3: 108,235,385 (GRCm39)	C255Y	probably damaging	Het
Stab2	T	A	10: 86,785,771 (GRCm39)	T624S	probably benign	Het
Stk33	T	A	7: 108,939,605 (GRCm39)	I99L	probably benign	Het
Taf4b	T	A	18: 15,031,100 (GRCm39)	I828N	probably damaging	Het
Terf2	T	C	8: 107,803,110 (GRCm39)		probably benign	Het
Timd4	C	T	11: 46,706,344 (GRCm39)	R49C	probably damaging	Het
Tpte	T	C	8: 22,808,362 (GRCm39)	S166P	probably benign	Het
Trabd2b	T	C	4: 114,264,052 (GRCm39)	L13P	probably benign	Het
Trappc11	A	T	8: 47,975,476 (GRCm39)	Y247*	probably null	Het
Trnt1	C	T	6: 106,755,853 (GRCm39)	Q303*	probably null	Het
Tspyl5	T	A	15: 33,687,201 (GRCm39)	Q248L	possibly damaging	Het
Ubxn7	A	T	16: 32,200,322 (GRCm39)	K337N	probably damaging	Het
Unc13a	T	A	8: 72,095,816 (GRCm39)	I1234F	probably benign	Het
Vmn1r127	A	T	7: 21,052,943 (GRCm39)	F282I	probably damaging	Het
Wdhd1	A	T	14: 47,506,111 (GRCm39)		probably null	Het
Zfp605	A	G	5: 110,275,352 (GRCm39)	K157E	probably damaging	Het
Zhx2	T	A	15: 57,684,755 (GRCm39)	D41E	probably benign	Het

Other mutations in Cdk7

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R0055:Cdk7	UTSW	13	100,855,812 (GRCm39)	nonsense	probably null
R0208:Cdk7	UTSW	13	100,843,022 (GRCm39)	missense	probably benign
R0361:Cdk7	UTSW	13	100,848,062 (GRCm39)	nonsense	probably null
R2030:Cdk7	UTSW	13	100,859,182 (GRCm39)	splice site	probably benign
R5121:Cdk7	UTSW	13	100,854,192 (GRCm39)	critical splice acceptor site	probably null
R5252:Cdk7	UTSW	13	100,866,968 (GRCm39)	nonsense	probably null
R5527:Cdk7	UTSW	13	100,866,980 (GRCm39)	missense	probably damaging	1.00
R7008:Cdk7	UTSW	13	100,854,129 (GRCm39)	missense	probably damaging	0.99
R8100:Cdk7	UTSW	13	100,842,925 (GRCm39)	missense	probably benign	0.03
R9016:Cdk7	UTSW	13	100,854,126 (GRCm39)	missense	probably benign	0.43
R9399:Cdk7	UTSW	13	100,840,988 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AATGCCCACAACTTTCTGGCC -3'
(R):5'- GCACAGCATTGCTTACCAC -3'

Sequencing Primer
(F):5'- CTGGCCTTCAGGAGTTAAAGC -3'
(R):5'- TGGAACTCACTCTGTAGACCAGG -3'

Posted On

2016-05-10