Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01970:Cdk9'

182536

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Cdk9

Ensembl Gene

ENSMUSG00000009555

Gene Name

cyclin dependent kinase 9

Synonyms

PITALRE

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL01970

Quality Score

Status

Chromosome

Chromosomal Location

32595796-32603088 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 32598063 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Arginine at position 280 (H280R)

Ref Sequence

ENSEMBL: ENSMUSP00000113327 (fasta)

Gene Model

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

AlphaFold

Q99J95

Predicted Effect

possibly damaging
Transcript: ENSMUST00000009699
AA Change: H331R

PolyPhen 2 Score 0.768 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000009699
Gene: ENSMUSG00000009555
AA Change: H331R

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000120105
AA Change: H280R

PolyPhen 2 Score 0.768 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000113327
Gene: ENSMUSG00000009555
AA Change: H280R

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: ENSMUST00000198213

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000144210

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000175539

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: ENSMUST00000155205

SMART Domains

Protein: ENSMUSP00000115299
Gene: ENSMUSG00000009555

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

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

Coding Region Coverage

Validation Efficiency

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: 25 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Cenpt	C	T	8: 106,571,748 (GRCm39)	R461H	probably damaging	Het
Cpa4	A	G	6: 30,579,645 (GRCm39)	T151A	probably benign	Het
Glrb	A	G	3: 80,769,232 (GRCm39)	I165T	possibly damaging	Het
Gm17305	A	T	11: 69,255,646 (GRCm39)		probably benign	Het
Kdm5b	T	A	1: 134,528,465 (GRCm39)	S391T	probably damaging	Het
Klrg2	T	C	6: 38,613,383 (GRCm39)	K207E	probably damaging	Het
Krt1	T	C	15: 101,755,299 (GRCm39)	I487V	possibly damaging	Het
Krt27	A	G	11: 99,239,547 (GRCm39)	L311P	probably damaging	Het
Leng9	T	C	7: 4,151,326 (GRCm39)	Y450C	probably damaging	Het
Oacyl	A	T	18: 65,882,785 (GRCm39)	I627F	possibly damaging	Het
Perm1	G	T	4: 156,302,118 (GRCm39)	G221W	probably damaging	Het
Rft1	C	T	14: 30,412,492 (GRCm39)	L518F	probably benign	Het
Sdk1	A	T	5: 142,071,437 (GRCm39)	Q1209L	possibly damaging	Het
Selenbp1	A	G	3: 94,844,313 (GRCm39)	S57G	probably benign	Het
Sema5a	T	C	15: 32,686,792 (GRCm39)	M968T	probably benign	Het
Slc16a3	G	A	11: 120,847,864 (GRCm39)	V351M	probably damaging	Het
Sorbs2	G	A	8: 46,198,840 (GRCm39)	V73I	probably damaging	Het
Specc1l	T	A	10: 75,081,595 (GRCm39)	D347E	probably damaging	Het
Tas2r116	A	C	6: 132,832,632 (GRCm39)	T78P	probably benign	Het
Tpm3	A	G	3: 89,997,135 (GRCm39)	E224G	probably damaging	Het
Trnau1ap	T	C	4: 132,041,298 (GRCm39)		probably benign	Het
Vmn2r17	T	A	5: 109,575,813 (GRCm39)	M228K	probably damaging	Het
Vnn1	T	C	10: 23,773,300 (GRCm39)	I109T	probably benign	Het
Wee1	C	A	7: 109,738,457 (GRCm39)	H523Q	probably damaging	Het
Xpr1	T	C	1: 155,165,980 (GRCm39)	N524S	probably benign	Het

Other mutations in Cdk9

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
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
R6047:Cdk9	UTSW	2	32,598,285 (GRCm39)	splice site	probably null
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

Posted On

2014-05-07