Mutagenetix > Incidental Mutation

Incidental Mutation 'R6047:Cdk9'

483331

Institutional Source

Beutler Lab

Gene Symbol

Cdk9

Ensembl Gene

ENSMUSG00000009555

Gene Name

cyclin dependent kinase 9

Synonyms

PITALRE

MMRRC Submission

044215-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R6047 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

32595796-32603088 bp(-) (GRCm39)

Type of Mutation

splice site (1885 bp from exon)

DNA Base Change (assembly)

T to C at 32598285 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000115299 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000009699] [ENSMUST00000120105] [ENSMUST00000123170] [ENSMUST00000127812] [ENSMUST00000146498] [ENSMUST00000154131] [ENSMUST00000143743] [ENSMUST00000155205]

AlphaFold

Q99J95

Predicted Effect

probably benign
Transcript: ENSMUST00000009699
AA Change: D257G

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000009699
Gene: ENSMUSG00000009555
AA Change: D257G

Domain	Start	End	E-Value	Type
S_TKc	19	315	9.28e-92	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000120105
AA Change: D206G

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000113327
Gene: ENSMUSG00000009555
AA Change: D206G

Domain	Start	End	E-Value	Type
Pfam:Pkinase	1	264	9.8e-58	PFAM
Pfam:Pkinase_Tyr	2	215	1.6e-25	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000123170

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000125058

Predicted Effect

probably benign
Transcript: ENSMUST00000127812

SMART Domains

Protein: ENSMUSP00000116434
Gene: ENSMUSG00000009566

Domain	Start	End	E-Value	Type
SCOP:d1jbwa2	40	243	3e-48	SMART
PDB:1O5Z\|A	56	243	4e-30	PDB

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000128265

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000130399

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000144210

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000175539

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000198213

Predicted Effect

probably benign
Transcript: ENSMUST00000146498

SMART Domains

Protein: ENSMUSP00000141899
Gene: ENSMUSG00000009566

Domain	Start	End	E-Value	Type
SCOP:d1jbwa2	40	126	2e-14	SMART
low complexity region	136	148	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000154131

SMART Domains

Protein: ENSMUSP00000120857
Gene: ENSMUSG00000009555

Domain	Start	End	E-Value	Type
Pfam:Pkinase	19	61	8.6e-10	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000143743

Predicted Effect

probably null
Transcript: ENSMUST00000155205

SMART Domains

Protein: ENSMUSP00000115299
Gene: ENSMUSG00000009555

Domain	Start	End	E-Value	Type
Pfam:Pkinase	1	54	8.4e-7	PFAM

Meta Mutation Damage Score

0.1281

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 97.9%
20x: 93.6%

Validation Efficiency

100% (36/36)

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 S. cerevisiae cdc28, and S. pombe cdc2, and known as important cell cycle regulators. This kinase was found to be a component of the multiprotein complex TAK/P-TEFb, which is an elongation factor for RNA polymerase II-directed transcription and functions by phosphorylating the C-terminal domain of the largest subunit of RNA polymerase II. This protein forms a complex with and is regulated by its regulatory subunit cyclin T or cyclin K. HIV-1 Tat protein was found to interact with this protein and cyclin T, which suggested a possible involvement of this protein in AIDS. [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 36 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb1b	T	C	5: 8,856,066 (GRCm39)	I58T	probably damaging	Het
Adgrb2	G	T	4: 129,912,498 (GRCm39)	G1208C	probably damaging	Het
Antxrl	T	C	14: 33,775,433 (GRCm39)		probably benign	Het
Appl2	C	T	10: 83,448,765 (GRCm39)		probably null	Het
Bloc1s2	T	C	19: 44,130,629 (GRCm39)	I112V	possibly damaging	Het
Cblb	G	T	16: 51,932,611 (GRCm39)		probably null	Het
Dok7	G	A	5: 35,236,651 (GRCm39)	G206D	probably damaging	Het
Ftsj3	C	T	11: 106,143,144 (GRCm39)	R390H	probably damaging	Het
Gpr179	G	T	11: 97,229,242 (GRCm39)	P971Q	probably damaging	Het
Hic1	A	T	11: 75,057,675 (GRCm39)	S405T	possibly damaging	Het
Ifngr1	T	C	10: 19,482,061 (GRCm39)	L217P	probably damaging	Het
Insrr	A	G	3: 87,711,483 (GRCm39)	K468E	probably damaging	Het
Lce1j	G	C	3: 92,696,503 (GRCm39)	R92G	unknown	Het
Lrp12	T	C	15: 39,735,463 (GRCm39)	E823G	probably damaging	Het
Lrp1b	A	G	2: 40,527,787 (GRCm39)	I98T	probably benign	Het
Mbd3l2	A	T	9: 18,356,212 (GRCm39)	H179L	possibly damaging	Het
Med24	A	T	11: 98,598,591 (GRCm39)	C691*	probably null	Het
Mical1	T	C	10: 41,357,703 (GRCm39)		probably null	Het
Msantd2	A	T	9: 37,434,738 (GRCm39)	Y326F	probably damaging	Het
Nfyc	T	A	4: 120,636,314 (GRCm39)		probably null	Het
Nrg3	T	A	14: 38,119,309 (GRCm39)		probably null	Het
Nt5c3	G	A	6: 56,859,964 (GRCm39)	S291L	probably damaging	Het
Pak4	A	G	7: 28,262,461 (GRCm39)	Y384H	probably benign	Het
Pdia5	T	C	16: 35,217,848 (GRCm39)	K512E	probably damaging	Het
Pfpl	T	C	19: 12,406,597 (GRCm39)	F283L	probably damaging	Het
Pick1	A	G	15: 79,139,895 (GRCm39)		probably benign	Het
Pkd1	T	C	17: 24,814,059 (GRCm39)	V4143A	probably damaging	Het
Ptprc	C	T	1: 138,028,779 (GRCm39)		probably null	Het
Scn10a	A	G	9: 119,451,897 (GRCm39)	F1342S	probably benign	Het
Slc17a7	A	T	7: 44,822,830 (GRCm39)	I436F	probably benign	Het
Slc34a1	G	T	13: 55,559,884 (GRCm39)	A403S	probably damaging	Het
Stmn3	A	T	2: 180,950,952 (GRCm39)	Y35N	possibly damaging	Het
Tldc2	A	G	2: 156,938,382 (GRCm39)	E207G	probably damaging	Het
Unc79	A	G	12: 103,027,717 (GRCm39)	N436S	probably damaging	Het
Uty	G	T	Y: 1,158,288 (GRCm39)	P538Q	probably damaging	Het
Zzef1	A	G	11: 72,756,921 (GRCm39)	D1142G	probably damaging	Het

Other mutations in Cdk9

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01970:Cdk9	APN	2	32,598,063 (GRCm39)	missense	possibly damaging	0.77
R0321:Cdk9	UTSW	2	32,602,698 (GRCm39)	unclassified	probably benign
R0615:Cdk9	UTSW	2	32,599,813 (GRCm39)	missense	possibly damaging	0.92
R0624:Cdk9	UTSW	2	32,599,836 (GRCm39)	missense	probably damaging	1.00
R0661:Cdk9	UTSW	2	32,599,832 (GRCm39)	missense	probably damaging	1.00
R1525:Cdk9	UTSW	2	32,600,521 (GRCm39)	missense	probably damaging	0.97
R2082:Cdk9	UTSW	2	32,599,513 (GRCm39)	missense	probably damaging	1.00
R4416:Cdk9	UTSW	2	32,598,084 (GRCm39)	missense	probably damaging	1.00
R7391:Cdk9	UTSW	2	32,602,083 (GRCm39)	missense	probably damaging	0.96
R8127:Cdk9	UTSW	2	32,598,009 (GRCm39)	missense	probably benign
R8792:Cdk9	UTSW	2	32,598,269 (GRCm39)	missense	probably benign	0.12
R9040:Cdk9	UTSW	2	32,597,999 (GRCm39)	missense	probably benign
R9231:Cdk9	UTSW	2	32,598,006 (GRCm39)	missense	probably benign	0.00
R9238:Cdk9	UTSW	2	32,598,273 (GRCm39)	missense	possibly damaging	0.86

Predicted Primers

PCR Primer
(F):5'- ACCAGAAGAAGTCGTGGTTG -3'
(R):5'- GCACATTTATCGCAGCTGAC -3'

Sequencing Primer
(F):5'- TGAGGGCATCGTCACTGTCAATC -3'
(R):5'- ACATTTATCGCAGCTGACTTGTG -3'

Posted On

2017-07-14