Mutagenetix > Incidental Mutation

Incidental Mutation 'R1639:Cdk19'

173384

Institutional Source

Beutler Lab

Gene Symbol

Cdk19

Ensembl Gene

ENSMUSG00000038481

Gene Name

cyclin dependent kinase 19

Synonyms

Cdc2l6, 2700084L06Rik

MMRRC Submission

039675-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1639 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

40225283-40359814 bp(+) (GRCm39)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

T to C at 40352965 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000093414 (fasta)

Gene Model

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

AlphaFold

Q8BWD8

Predicted Effect

probably null
Transcript: ENSMUST00000044672

SMART Domains

Protein: ENSMUSP00000040936
Gene: ENSMUSG00000038481

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 null
Transcript: ENSMUST00000095743

SMART Domains

Protein: ENSMUSP00000093414
Gene: ENSMUSG00000038481

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

0.9494

Coding Region Coverage

1x: 99.0%
3x: 98.1%
10x: 95.5%
20x: 89.7%

Validation Efficiency

96% (66/69)

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: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acss2	C	A	2: 155,398,828 (GRCm39)	T425N	probably benign	Het
Adam18	T	A	8: 25,142,168 (GRCm39)	I203L	probably benign	Het
Amigo2	A	G	15: 97,143,879 (GRCm39)	M181T	probably benign	Het
Anks1	T	A	17: 28,277,280 (GRCm39)	I1045N	probably damaging	Het
Ap3d1	C	T	10: 80,565,844 (GRCm39)	V108I	probably damaging	Het
Arl8a	C	T	1: 135,080,561 (GRCm39)	R57*	probably null	Het
Atp12a	A	T	14: 56,621,525 (GRCm39)	D720V	possibly damaging	Het
Brpf3	T	C	17: 29,043,042 (GRCm39)		probably null	Het
C2	T	C	17: 35,091,379 (GRCm39)	K95E	probably benign	Het
Cebpz	T	A	17: 79,242,035 (GRCm39)	I540L	possibly damaging	Het
Cep128	A	G	12: 91,333,142 (GRCm39)	V41A	probably damaging	Het
Cog7	T	C	7: 121,580,642 (GRCm39)	E56G	probably damaging	Het
Cylc2	T	C	4: 51,228,310 (GRCm39)	V127A	probably benign	Het
Cyp2b23	A	G	7: 26,385,842 (GRCm39)	V5A	possibly damaging	Het
Cyp8b1	A	G	9: 121,743,956 (GRCm39)	Y459H	probably benign	Het
Dbpht2	A	G	12: 74,345,932 (GRCm39)		noncoding transcript	Het
Ddx24	T	C	12: 103,377,578 (GRCm39)		probably null	Het
Dgki	C	T	6: 36,914,299 (GRCm39)	C757Y	probably damaging	Het
Eef2k	T	A	7: 120,485,051 (GRCm39)	L306H	probably damaging	Het
Ephb2	T	C	4: 136,421,216 (GRCm39)	N378S	probably benign	Het
Espl1	C	T	15: 102,229,149 (GRCm39)	T1767I	probably damaging	Het
Fbn2	C	A	18: 58,191,534 (GRCm39)	A1530S	probably benign	Het
Fndc11	A	G	2: 180,863,374 (GRCm39)	S60G	possibly damaging	Het
Glb1l	G	T	1: 75,176,245 (GRCm39)	Q612K	probably benign	Het
Gpsm1	A	G	2: 26,235,199 (GRCm39)	E371G	probably damaging	Het
Gtpbp2	G	A	17: 46,476,697 (GRCm39)		probably null	Het
Itch	A	G	2: 155,020,945 (GRCm39)		probably null	Het
Itga2	T	C	13: 114,993,832 (GRCm39)	T774A	probably benign	Het
Kit	A	G	5: 75,813,467 (GRCm39)	I881V	probably damaging	Het
Lpar5	T	C	6: 125,058,564 (GRCm39)	L95P	probably damaging	Het
Lrp6	T	C	6: 134,430,529 (GRCm39)	T1511A	possibly damaging	Het
Mgat4c	T	C	10: 102,214,142 (GRCm39)	Y42H	probably damaging	Het
Mpp3	G	T	11: 101,914,268 (GRCm39)	T109K	probably damaging	Het
Msantd4	A	G	9: 4,385,199 (GRCm39)	E308G	probably damaging	Het
Mug1	T	C	6: 121,857,530 (GRCm39)	S1085P	probably damaging	Het
Myo5b	A	G	18: 74,840,987 (GRCm39)	H956R	probably benign	Het
Ncoa7	A	C	10: 30,577,988 (GRCm39)	L132R	probably damaging	Het
Ndufc1	T	C	3: 51,315,664 (GRCm39)	T25A	probably benign	Het
Or4a81	T	C	2: 89,619,589 (GRCm39)	T36A	probably damaging	Het
Pkhd1l1	G	A	15: 44,404,351 (GRCm39)	V2327M	probably damaging	Het
Ppp1r9b	T	C	11: 94,887,436 (GRCm39)	Y59H	probably damaging	Het
Sema4c	A	T	1: 36,592,615 (GRCm39)	F152I	probably benign	Het
Slit2	A	T	5: 48,416,996 (GRCm39)	Y1016F	probably damaging	Het
Spata31d1c	T	A	13: 65,183,853 (GRCm39)	V465D	probably benign	Het
Ssc5d	T	C	7: 4,931,416 (GRCm39)	C208R	probably damaging	Het
Stambpl1	T	G	19: 34,213,707 (GRCm39)	V312G	probably benign	Het
Stim1	T	A	7: 102,003,748 (GRCm39)	D60E	probably benign	Het
Syt13	T	A	2: 92,776,316 (GRCm39)	V201D	probably benign	Het
Tcaim	G	A	9: 122,647,838 (GRCm39)		probably null	Het
Tex15	T	C	8: 34,060,845 (GRCm39)	S366P	possibly damaging	Het
Tex56	T	C	13: 35,128,233 (GRCm39)	I150T	possibly damaging	Het
Tpte	G	A	8: 22,810,913 (GRCm39)	R190H	probably benign	Het
Vmn1r4	T	C	6: 56,934,060 (GRCm39)	V188A	probably damaging	Het
Vmn2r88	A	G	14: 51,654,244 (GRCm39)	D542G	probably damaging	Het
Vps33b	T	A	7: 79,934,101 (GRCm39)	I257N	probably damaging	Het
Wwox	G	T	8: 115,172,118 (GRCm39)	G71*	probably null	Het
Zc3h11a	G	T	1: 133,552,446 (GRCm39)	Q554K	probably benign	Het
Zfp947	T	C	17: 22,365,074 (GRCm39)	K200R	probably benign	Het
Zscan12	T	A	13: 21,553,156 (GRCm39)	C327S	probably damaging	Het

Other mutations in Cdk19

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00164:Cdk19	APN	10	40,312,161 (GRCm39)	missense	probably benign	0.14
IGL00482:Cdk19	APN	10	40,345,644 (GRCm39)	missense	possibly damaging	0.61
IGL03380:Cdk19	APN	10	40,352,908 (GRCm39)	missense	probably benign	0.42
R0217:Cdk19	UTSW	10	40,352,254 (GRCm39)	splice site	probably benign
R1899:Cdk19	UTSW	10	40,355,776 (GRCm39)	utr 3 prime	probably benign
R2102:Cdk19	UTSW	10	40,355,726 (GRCm39)	utr 3 prime	probably benign
R3828:Cdk19	UTSW	10	40,351,609 (GRCm39)	missense	probably damaging	0.96
R4124:Cdk19	UTSW	10	40,270,391 (GRCm39)	missense	probably benign	0.09
R4125:Cdk19	UTSW	10	40,270,391 (GRCm39)	missense	probably benign	0.09
R4128:Cdk19	UTSW	10	40,270,391 (GRCm39)	missense	probably benign	0.09
R4474:Cdk19	UTSW	10	40,345,952 (GRCm39)	critical splice donor site	probably null
R4668:Cdk19	UTSW	10	40,342,706 (GRCm39)	missense	probably damaging	0.98
R4750:Cdk19	UTSW	10	40,352,195 (GRCm39)	missense	probably damaging	1.00
R4871:Cdk19	UTSW	10	40,352,232 (GRCm39)	missense	probably benign	0.03
R4993:Cdk19	UTSW	10	40,352,214 (GRCm39)	missense	possibly damaging	0.79
R5078:Cdk19	UTSW	10	40,312,150 (GRCm39)	missense	probably damaging	1.00
R7130:Cdk19	UTSW	10	40,355,761 (GRCm39)	missense	unknown
R7570:Cdk19	UTSW	10	40,353,954 (GRCm39)	missense	possibly damaging	0.80
R8179:Cdk19	UTSW	10	40,270,368 (GRCm39)	missense	possibly damaging	0.89
R9027:Cdk19	UTSW	10	40,355,728 (GRCm39)	missense	unknown
R9438:Cdk19	UTSW	10	40,352,176 (GRCm39)	missense	probably damaging	1.00
R9684:Cdk19	UTSW	10	40,351,594 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TGGAAAGTGTCCAGCAAACACCAG -3'
(R):5'- GCTGTAAGGCACACAGGGCAATATC -3'

Sequencing Primer
(F):5'- CACCAGCCACAGTAAGGAAGAG -3'
(R):5'- TCTCTTAACATAAAGGACTGGGG -3'

Posted On

2014-04-24