Mutagenetix > Incidental Mutation

Incidental Mutation 'R0217:Cdk19'

33622

Institutional Source

Beutler Lab

Gene Symbol

Cdk19

Ensembl Gene

ENSMUSG00000038481

Gene Name

cyclin dependent kinase 19

Synonyms

Cdc2l6, 2700084L06Rik

MMRRC Submission

038466-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0217 (G1)

Quality Score

225

Status

Validated (trace)

Chromosome

Chromosomal Location

40225283-40359814 bp(+) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

C to T at 40352254 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000150085 (fasta)

Gene Model

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

AlphaFold

Q8BWD8

Predicted Effect

probably benign
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 benign
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

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.0%
20x: 94.8%

Validation Efficiency

100% (62/62)

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
Acte1	T	C	7: 143,447,956 (GRCm39)		probably benign	Het
Actr3	A	G	1: 125,335,150 (GRCm39)		probably benign	Het
Adamts13	A	G	2: 26,886,933 (GRCm39)		probably benign	Het
Afap1l1	A	G	18: 61,879,940 (GRCm39)	V310A	probably damaging	Het
Alms1	T	A	6: 85,599,912 (GRCm39)	S2048R	probably damaging	Het
Aspm	T	A	1: 139,385,618 (GRCm39)	S421T	possibly damaging	Het
Bcl2	G	A	1: 106,640,292 (GRCm39)	R107C	probably damaging	Het
Ccdc150	T	G	1: 54,339,589 (GRCm39)	S478A	possibly damaging	Het
Ccnyl1	T	A	1: 64,752,257 (GRCm39)		probably benign	Het
Cdc23	T	C	18: 34,784,718 (GRCm39)	T15A	unknown	Het
Comp	A	C	8: 70,831,558 (GRCm39)	D420A	probably damaging	Het
Ctnnal1	T	C	4: 56,813,230 (GRCm39)	H667R	probably benign	Het
Cyp20a1	C	A	1: 60,382,625 (GRCm39)		probably benign	Het
Eci3	A	C	13: 35,132,072 (GRCm39)	S259A	probably benign	Het
Fcnb	T	C	2: 27,969,689 (GRCm39)	D126G	probably benign	Het
Foxk1	T	C	5: 142,387,649 (GRCm39)	M124T	possibly damaging	Het
Gm12790	T	C	4: 101,825,231 (GRCm39)	Y61C	probably damaging	Het
Hmgcr	A	C	13: 96,788,488 (GRCm39)	I777S	probably damaging	Het
Hsdl2	A	G	4: 59,597,311 (GRCm39)	E100G	probably damaging	Het
Itgb2	G	T	10: 77,384,370 (GRCm39)		probably benign	Het
Jak2	T	A	19: 29,274,050 (GRCm39)		probably null	Het
Lrba	T	C	3: 86,550,029 (GRCm39)	S2333P	probably damaging	Het
Man1a2	A	G	3: 100,524,353 (GRCm39)	L365P	possibly damaging	Het
Map2k5	A	T	9: 63,164,257 (GRCm39)		probably null	Het
Mcc	C	G	18: 44,652,583 (GRCm39)		probably benign	Het
Megf8	T	A	7: 25,063,504 (GRCm39)	L2620Q	probably damaging	Het
Nf1	A	T	11: 79,319,400 (GRCm39)		probably benign	Het
Or11h7	A	G	14: 50,891,552 (GRCm39)	N286S	probably damaging	Het
Or1e30	T	A	11: 73,678,214 (GRCm39)	V150E	possibly damaging	Het
Or5p1	C	A	7: 107,916,505 (GRCm39)	H135N	probably benign	Het
Pank3	T	A	11: 35,668,555 (GRCm39)	D181E	probably benign	Het
Pip5k1a	A	G	3: 94,981,302 (GRCm39)		probably null	Het
Plag1	A	C	4: 3,904,379 (GRCm39)	S271A	probably benign	Het
Plxna2	T	A	1: 194,326,906 (GRCm39)	I280N	probably damaging	Het
Polr1a	T	C	6: 71,940,687 (GRCm39)	V1007A	probably benign	Het
Ppm1h	T	A	10: 122,756,640 (GRCm39)	D428E	probably damaging	Het
Prelid2	A	T	18: 42,068,317 (GRCm39)		probably benign	Het
Ptk2b	T	C	14: 66,393,830 (GRCm39)	Y881C	probably damaging	Het
Rptor	T	C	11: 119,785,738 (GRCm39)		probably benign	Het
Sbno1	T	C	5: 124,542,387 (GRCm39)		probably null	Het
Scaf4	T	C	16: 90,039,570 (GRCm39)	D843G	probably damaging	Het
Serpina3b	C	T	12: 104,096,986 (GRCm39)	A89V	probably damaging	Het
Serpinb9d	C	A	13: 33,382,005 (GRCm39)	T158N	possibly damaging	Het
Slc39a10	C	T	1: 46,874,700 (GRCm39)	V201I	probably benign	Het
Slc6a13	T	A	6: 121,301,279 (GRCm39)	N189K	probably damaging	Het
Smco1	G	T	16: 32,092,599 (GRCm39)	R90L	possibly damaging	Het
Stim1	T	A	7: 102,085,007 (GRCm39)	M653K	probably benign	Het
Stxbp1	T	C	2: 32,691,882 (GRCm39)	S437G	possibly damaging	Het
Stxbp3-ps	T	G	19: 9,536,496 (GRCm39)		noncoding transcript	Het
Tgtp1	A	C	11: 48,878,146 (GRCm39)	S186R	probably benign	Het
Trpc7	C	T	13: 56,937,581 (GRCm39)	W570*	probably null	Het
Trpv4	C	A	5: 114,772,722 (GRCm39)	R289L	possibly damaging	Het
Vmn2r82	A	G	10: 79,214,634 (GRCm39)	M206V	possibly damaging	Het
Wdr47	T	A	3: 108,544,336 (GRCm39)	V653E	probably damaging	Het
Zfp113	T	C	5: 138,148,953 (GRCm39)	R64G	probably benign	Het
Zfp661	C	T	2: 127,419,211 (GRCm39)	E310K	probably damaging	Het
Zfp735	T	A	11: 73,602,112 (GRCm39)	I352N	possibly damaging	Het
Zswim4	A	G	8: 84,939,293 (GRCm39)	L863P	probably damaging	Het
Zzef1	T	A	11: 72,779,894 (GRCm39)	I1889N	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
R1639:Cdk19	UTSW	10	40,352,965 (GRCm39)	critical splice donor site	probably null
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'- GCAAAGTGTTCCTCCTGGTAGGTG -3'
(R):5'- CTATGAATCTGGCATGGCCTCTCTG -3'

Sequencing Primer
(F):5'- gccttgacaatccacaatcc -3'
(R):5'- ACGAGTCAGGCAAATGCT -3'

Posted On

2013-05-09