Mutagenetix > Incidental Mutation

Incidental Mutation 'R9684:Cdk19'

728749

Institutional Source

Beutler Lab

Gene Symbol

Cdk19

Ensembl Gene

ENSMUSG00000038481

Gene Name

cyclin dependent kinase 19

Synonyms

Cdc2l6, 2700084L06Rik

MMRRC Submission

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R9684 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

40225283-40359814 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 40351594 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Lysine at position 297 (M297K)

Ref Sequence

ENSEMBL: ENSMUSP00000040936 (fasta)

Gene Model

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

AlphaFold

Q8BWD8

Predicted Effect

probably damaging
Transcript: ENSMUST00000044672
AA Change: M297K

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000040936
Gene: ENSMUSG00000038481
AA Change: M297K

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: M253K

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000093414
Gene: ENSMUSG00000038481
AA Change: M253K

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

Validation Efficiency

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: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca13	A	T	11: 9,283,307 (GRCm39)	D3243V	probably damaging	Het
Acot3	T	C	12: 84,105,650 (GRCm39)	L281P	probably benign	Het
Asb4	A	C	6: 5,398,296 (GRCm39)	H87P	probably damaging	Het
Ccnt1	A	T	15: 98,446,566 (GRCm39)	Y175N	probably damaging	Het
Cdh11	A	G	8: 103,391,327 (GRCm39)	V303A	probably benign	Het
Ces2c	A	C	8: 105,574,699 (GRCm39)	D52A	probably benign	Het
Cox10	C	T	11: 63,855,207 (GRCm39)	R358H	probably damaging	Het
Cryzl1	A	G	16: 91,487,634 (GRCm39)	I302T	probably benign	Het
Def6	T	C	17: 28,436,044 (GRCm39)	Y68H	probably damaging	Het
Dolpp1	A	G	2: 30,285,748 (GRCm39)	I49V	possibly damaging	Het
Ehmt1	T	C	2: 24,753,329 (GRCm39)	D357G	possibly damaging	Het
Ermp1	G	T	19: 29,594,106 (GRCm39)	T688N	probably benign	Het
F830016B08Rik	T	C	18: 60,433,043 (GRCm39)	I42T	probably damaging	Het
Gbp7	A	G	3: 142,240,327 (GRCm39)	E15G	possibly damaging	Het
Ghdc	A	G	11: 100,661,091 (GRCm39)	S25P	probably benign	Het
Gm45861	A	G	8: 28,014,601 (GRCm39)	N613S	unknown	Het
Grip1	G	A	10: 119,874,569 (GRCm39)	E778K	possibly damaging	Het
Gzmf	T	A	14: 56,444,444 (GRCm39)	D43V	probably benign	Het
Hdac10	C	A	15: 89,011,402 (GRCm39)	D172Y	probably damaging	Het
Krt32	T	A	11: 99,977,308 (GRCm39)	R197S	probably damaging	Het
Lama5	T	C	2: 179,849,038 (GRCm39)	D215G	probably damaging	Het
M1ap	C	A	6: 82,945,094 (GRCm39)	H129Q	probably benign	Het
Mfsd3	A	G	15: 76,587,183 (GRCm39)	D312G	probably benign	Het
Muc5ac	A	G	7: 141,364,798 (GRCm39)	D2628G	probably benign	Het
Myoz3	T	C	18: 60,712,026 (GRCm39)	D184G	possibly damaging	Het
Ncor2	A	G	5: 125,102,139 (GRCm39)	L1217P		Het
Nepn	T	C	10: 52,276,801 (GRCm39)	V179A	probably benign	Het
Niban1	T	A	1: 151,593,538 (GRCm39)	I741N	possibly damaging	Het
Npr2	T	C	4: 43,632,491 (GRCm39)	Y103H	probably damaging	Het
Oosp3	A	T	19: 11,682,806 (GRCm39)	K158M	probably benign	Het
Or51i1	C	A	7: 103,671,079 (GRCm39)	G149C	probably damaging	Het
Or56a3	A	G	7: 104,735,589 (GRCm39)	Y222C		Het
Orc3	G	A	4: 34,607,135 (GRCm39)	T65I	probably benign	Het
Pcdhga7	T	C	18: 37,848,667 (GRCm39)	S225P	probably damaging	Het
Pcsk9	G	T	4: 106,307,386 (GRCm39)	L286I	probably benign	Het
Pkd1l3	GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA	GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA	8: 110,350,827 (GRCm39)		probably benign	Het
Pnma1	T	C	12: 84,193,941 (GRCm39)	Y254C	probably benign	Het
Ppm1k	T	A	6: 57,487,762 (GRCm39)	N354Y	probably damaging	Het
Ralgapa1	T	C	12: 55,659,485 (GRCm39)	T2012A	possibly damaging	Het
Selp	T	A	1: 163,953,858 (GRCm39)	W53R	probably damaging	Het
Slc10a7	T	A	8: 79,456,304 (GRCm39)	V302E	possibly damaging	Het
Slc25a32	T	C	15: 38,969,339 (GRCm39)	I65V	probably benign	Het
Spesp1	A	G	9: 62,180,545 (GRCm39)	F121S	probably damaging	Het
Syncrip	T	C	9: 88,361,671 (GRCm39)	T110A	probably benign	Het
Tc2n	T	C	12: 101,660,818 (GRCm39)	D138G	probably benign	Het
Tnfrsf9	C	T	4: 151,018,865 (GRCm39)	P179S	probably benign	Het
Ube2r2	A	G	4: 41,183,329 (GRCm39)	T117A	probably benign	Het
Ush2a	A	C	1: 188,132,078 (GRCm39)	K767Q	possibly damaging	Het
Vdr	A	G	15: 97,767,285 (GRCm39)	V161A	probably benign	Het
Vmn1r33	T	C	6: 66,589,075 (GRCm39)	T160A	possibly damaging	Het
Vmn1r63	A	G	7: 5,805,913 (GRCm39)	S240P	probably benign	Het
Vmp1	T	C	11: 86,476,156 (GRCm39)	N400S	probably benign	Het
Zfp599	G	A	9: 22,160,824 (GRCm39)	T447I	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
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

Predicted Primers

PCR Primer
(F):5'- TAGTTTATACAGCCCCGCCTG -3'
(R):5'- AGGCCCCTTAAAATTCTTTTCTGAC -3'

Sequencing Primer
(F):5'- TGCTCACCAGTGTCAGCAGTG -3'
(R):5'- TAATTTCTCATGTATCCAGCCATTC -3'

Posted On

2022-10-06