Mutagenetix > Incidental Mutations

Incidental Mutation 'R3828:Cdk19'

273853

Institutional Source

Beutler Lab

Gene Symbol

Cdk19

Ensembl Gene

ENSMUSG00000038481

Gene Name

cyclin-dependent kinase 19

Synonyms

Cdc2l6, 2700084L06Rik

MMRRC Submission

040886-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R3828 (G1)

Quality Score

215

Status

Validated

Chromosome

Chromosomal Location

40339564-40483818 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 40475613 bp

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 258 (V258A)

Ref Sequence

ENSEMBL: ENSMUSP00000093414 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000044672] [ENSMUST00000095743] [ENSMUST00000214659] [ENSMUST00000215000]

Predicted Effect

probably damaging
Transcript: ENSMUST00000044672
AA Change: V302A

PolyPhen 2 Score 0.961 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000040936
Gene: ENSMUSG00000038481
AA Change: V302A

Domain	Start	End	E-Value	Type
S_TKc	21	335	9.96e-83	SMART
low complexity region	371	405	N/A	INTRINSIC
low complexity region	407	422	N/A	INTRINSIC
low complexity region	467	499	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000095743
AA Change: V258A

PolyPhen 2 Score 0.961 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000093414
Gene: ENSMUSG00000038481
AA Change: V258A

Domain	Start	End	E-Value	Type
Pfam:Pkinase_Tyr	22	172	7.2e-17	PFAM
Pfam:Pkinase	23	166	2.5e-29	PFAM
Pfam:Pkinase	164	291	1.2e-11	PFAM
low complexity region	327	361	N/A	INTRINSIC
low complexity region	363	378	N/A	INTRINSIC
low complexity region	423	455	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000214659

Predicted Effect

probably benign
Transcript: ENSMUST00000215000

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000216736

Meta Mutation Damage Score

0.3707

Coding Region Coverage

1x: 99.2%
3x: 98.7%
10x: 97.4%
20x: 95.5%

Validation Efficiency

100% (34/34)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein that is one of the components of the Mediator co-activator complex. The Mediator complex is a multi-protein complex required for transcriptional activation by DNA binding transcription factors of genes transcribed by RNA polymerase II. The protein encoded by this gene is similar to cyclin-dependent kinase 8 which can also be a component of the Mediator complex. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Jul 2014]

Allele List at MGI

Other mutations in this stock

Total: 33 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Camk2b	A	G	11: 6,028,932	V32A	probably damaging	Het
Cbr2	A	T	11: 120,730,452	H140Q	probably benign	Het
Cep104	T	G	4: 153,984,943	M207R	probably damaging	Het
Chd2	A	G	7: 73,491,415	Y577H	possibly damaging	Het
Col4a1	C	A	8: 11,209,650	G1341V	probably damaging	Het
Commd9	C	A	2: 101,897,141	N93K	probably benign	Het
Cx3cl1	A	T	8: 94,777,306		probably benign	Het
Cxcr6	A	T	9: 123,810,869	M319L	probably benign	Het
Dlg5	T	A	14: 24,146,158	K1308I	probably damaging	Het
Dnah17	G	A	11: 118,041,158		probably benign	Het
Ffar2	A	T	7: 30,820,085	I10N	possibly damaging	Het
Gm17521	C	A	X: 123,029,225	G149C	unknown	Het
Gm5862	T	G	5: 26,019,347	H208P	probably benign	Het
Gpat4	G	A	8: 23,180,155	P286L	probably damaging	Het
Ino80d	A	T	1: 63,062,078	M463K	possibly damaging	Het
Lrp2	G	A	2: 69,426,012	P4595S	probably benign	Het
Mark4	A	G	7: 19,443,187	I239T	possibly damaging	Het
Mcoln1	C	T	8: 3,500,601	A2V	possibly damaging	Het
Mcts1	T	C	X: 38,602,568		probably benign	Het
Mrgprb5	T	A	7: 48,168,091	M299L	probably benign	Het
Ncapg2	A	T	12: 116,407,318		probably benign	Het
Olfr679	A	G	7: 105,086,297	N194D	probably benign	Het
Pcdhga4	G	T	18: 37,687,601	L734F	possibly damaging	Het
Rrm2	G	T	12: 24,708,599	A47S	probably benign	Het
Rsg1	C	T	4: 141,218,589	R148C	probably damaging	Het
Rsph6a	T	C	7: 19,057,614	L236P	probably damaging	Het
Rtkn2	A	T	10: 67,997,626		probably null	Het
Stk11	T	C	10: 80,127,948		probably null	Het
Syt14	T	C	1: 192,901,775	N444S	probably damaging	Het
Tmem59l	A	G	8: 70,487,301	L6S	unknown	Het
Tnks	A	G	8: 34,873,178	F429L	probably damaging	Het
Usp15	T	A	10: 123,196,870	I16F	possibly damaging	Het
Vps50	T	C	6: 3,533,500	I244T	probably benign	Het

Other mutations in Cdk19

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00164:Cdk19	APN	10	40436165	missense	probably benign	0.14
IGL00482:Cdk19	APN	10	40469648	missense	possibly damaging	0.61
IGL03380:Cdk19	APN	10	40476912	missense	probably benign	0.42
R0217:Cdk19	UTSW	10	40476258	splice site	probably benign
R1639:Cdk19	UTSW	10	40476969	critical splice donor site	probably null
R1899:Cdk19	UTSW	10	40479780	utr 3 prime	probably benign
R2102:Cdk19	UTSW	10	40479730	utr 3 prime	probably benign
R4124:Cdk19	UTSW	10	40394395	missense	probably benign	0.09
R4125:Cdk19	UTSW	10	40394395	missense	probably benign	0.09
R4128:Cdk19	UTSW	10	40394395	missense	probably benign	0.09
R4474:Cdk19	UTSW	10	40469956	critical splice donor site	probably null
R4668:Cdk19	UTSW	10	40466710	missense	probably damaging	0.98
R4750:Cdk19	UTSW	10	40476199	missense	probably damaging	1.00
R4871:Cdk19	UTSW	10	40476236	missense	probably benign	0.03
R4993:Cdk19	UTSW	10	40476218	missense	possibly damaging	0.79
R5078:Cdk19	UTSW	10	40436154	missense	probably damaging	1.00
R7130:Cdk19	UTSW	10	40479765	missense	unknown
R7570:Cdk19	UTSW	10	40477958	missense	possibly damaging	0.80
R8179:Cdk19	UTSW	10	40394372	missense	possibly damaging	0.89

Predicted Primers

PCR Primer
(F):5'- TGTCAGCAGTGAGTAACGG -3'
(R):5'- TCCTGAAATTACCAATTAGGCCCC -3'

Sequencing Primer
(F):5'- AACGGTGAGTGAGTGTCTGCAC -3'
(R):5'- AGGCCCCTTAAAATTCTTTTCTGAC -3'

Posted On

2015-04-02