Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02557:Ccnk'

298335

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Ccnk

Ensembl Gene

ENSMUSG00000021258

Gene Name

cyclin K

Synonyms

CycK, CPR4

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL02557

Quality Score

Status

Chromosome

Chromosomal Location

108145838-108169618 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 108161985 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 297 (S297P)

Ref Sequence

ENSEMBL: ENSMUSP00000152784 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000101055] [ENSMUST00000221167]

AlphaFold

no structure available at present

Predicted Effect

unknown
Transcript: ENSMUST00000101055
AA Change: S297P

SMART Domains

Protein: ENSMUSP00000098616
Gene: ENSMUSG00000021258
AA Change: S297P

Domain	Start	End	E-Value	Type
CYCLIN	55	149	6.67e-16	SMART
Cyclin_C	158	278	4.83e-1	SMART
CYCLIN	162	256	1.23e-1	SMART
low complexity region	342	361	N/A	INTRINSIC
low complexity region	365	392	N/A	INTRINSIC
low complexity region	404	427	N/A	INTRINSIC
low complexity region	428	446	N/A	INTRINSIC
low complexity region	457	471	N/A	INTRINSIC
low complexity region	476	576	N/A	INTRINSIC

Predicted Effect

unknown
Transcript: ENSMUST00000221167
AA Change: S297P

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000223363

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 transcription cyclin family. These cyclins may regulate transcription through their association with and activation of cyclin-dependent kinases (CDK) that phosphorylate the C-terminal domain (CTD) of the large subunit of RNA polymerase II. This gene product may play a dual role in regulating CDK and RNA polymerase II activities. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a gene trap allele display complete embryonic lethality before implantation. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 45 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
AA986860	C	T	1: 130,670,444 (GRCm39)	P222L	probably benign	Het
Alg12	T	A	15: 88,700,410 (GRCm39)	K9*	probably null	Het
Arhgap20	T	C	9: 51,732,573 (GRCm39)	V119A	probably damaging	Het
Arhgap45	T	C	10: 79,857,472 (GRCm39)	Y178H	probably damaging	Het
Atad2	A	T	15: 57,985,993 (GRCm39)	S243T	probably benign	Het
Atp13a5	A	C	16: 29,066,934 (GRCm39)	F1013V	probably benign	Het
Atp1a2	T	G	1: 172,106,218 (GRCm39)	T865P	possibly damaging	Het
Bcas2	T	C	3: 103,079,183 (GRCm39)		probably benign	Het
Cdk5	A	T	5: 24,624,651 (GRCm39)	S215T	probably benign	Het
Ciita	T	A	16: 10,329,879 (GRCm39)	L798Q	probably damaging	Het
Clcn2	A	G	16: 20,527,214 (GRCm39)	S584P	probably damaging	Het
Cntn6	A	G	6: 104,751,496 (GRCm39)	Y384C	probably damaging	Het
Cyp2b10	T	A	7: 25,614,306 (GRCm39)	V260D	probably benign	Het
Dsel	A	T	1: 111,790,300 (GRCm39)	H78Q	probably damaging	Het
Eml3	T	C	19: 8,908,745 (GRCm39)		probably benign	Het
Fcgr2b	C	A	1: 170,790,891 (GRCm39)		probably null	Het
Fryl	A	T	5: 73,255,736 (GRCm39)	L765Q	probably damaging	Het
Gas2	T	A	7: 51,537,681 (GRCm39)	M2K	probably damaging	Het
Gm13941	T	C	2: 110,931,501 (GRCm39)	K44E	unknown	Het
Gm42878	A	G	5: 121,665,194 (GRCm39)	S205P	possibly damaging	Het
Hcn3	A	T	3: 89,057,178 (GRCm39)	S473R	probably damaging	Het
Hnrnpr	A	G	4: 136,046,817 (GRCm39)	E65G	probably damaging	Het
Ints1	A	T	5: 139,757,392 (GRCm39)	V375E	probably damaging	Het
Lama5	A	T	2: 179,832,725 (GRCm39)	C1642*	probably null	Het
Lsr	T	G	7: 30,657,919 (GRCm39)	E347A	possibly damaging	Het
Mapre2	C	A	18: 23,966,014 (GRCm39)	T33K	probably damaging	Het
Myo3b	T	A	2: 70,085,663 (GRCm39)	F772I	probably benign	Het
Myorg	C	T	4: 41,497,900 (GRCm39)	V577M	possibly damaging	Het
Nbas	T	C	12: 13,411,029 (GRCm39)	V891A	probably damaging	Het
Neurl4	A	T	11: 69,797,161 (GRCm39)	I583F	probably damaging	Het
Nsd1	T	C	13: 55,460,261 (GRCm39)	S2163P	probably damaging	Het
Nup210l	T	C	3: 90,031,537 (GRCm39)	Y288H	probably damaging	Het
Or10ak8	T	C	4: 118,774,389 (GRCm39)	T92A	probably benign	Het
Or4c107	A	G	2: 88,789,025 (GRCm39)	I72V	probably benign	Het
Pak1	A	G	7: 97,520,794 (GRCm39)	E151G	probably benign	Het
Phtf1	A	G	3: 103,906,081 (GRCm39)	N588D	probably damaging	Het
Prom2	T	C	2: 127,371,391 (GRCm39)	T756A	possibly damaging	Het
Ptgfrn	C	T	3: 100,967,952 (GRCm39)		probably null	Het
Seh1l	T	C	18: 67,922,483 (GRCm39)	S279P	probably benign	Het
Sema3f	A	T	9: 107,564,411 (GRCm39)	M35K	probably damaging	Het
Spesp1	T	C	9: 62,180,416 (GRCm39)	E164G	possibly damaging	Het
Sprr3	T	C	3: 92,364,473 (GRCm39)	T124A	possibly damaging	Het
Trim24	A	C	6: 37,942,434 (GRCm39)		probably null	Het
Unc79	A	G	12: 103,148,418 (GRCm39)		probably benign	Het
Vmn2r77	T	A	7: 86,444,342 (GRCm39)		probably benign	Het

Other mutations in Ccnk

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02331:Ccnk	APN	12	108,155,343 (GRCm39)	missense	probably damaging	1.00
IGL02341:Ccnk	APN	12	108,161,989 (GRCm39)	missense	unknown
FR4449:Ccnk	UTSW	12	108,168,766 (GRCm39)	unclassified	probably benign
FR4737:Ccnk	UTSW	12	108,168,766 (GRCm39)	unclassified	probably benign
FR4976:Ccnk	UTSW	12	108,168,766 (GRCm39)	unclassified	probably benign
R0481:Ccnk	UTSW	12	108,165,568 (GRCm39)	unclassified	probably benign
R0725:Ccnk	UTSW	12	108,161,834 (GRCm39)	splice site	probably benign
R1839:Ccnk	UTSW	12	108,161,333 (GRCm39)	missense	probably damaging	1.00
R2144:Ccnk	UTSW	12	108,155,349 (GRCm39)	missense	probably null	1.00
R2903:Ccnk	UTSW	12	108,168,647 (GRCm39)	unclassified	probably benign
R4660:Ccnk	UTSW	12	108,168,575 (GRCm39)	unclassified	probably benign
R5131:Ccnk	UTSW	12	108,168,890 (GRCm39)	unclassified	probably benign
R5404:Ccnk	UTSW	12	108,161,882 (GRCm39)	missense	possibly damaging	0.88
R5843:Ccnk	UTSW	12	108,159,989 (GRCm39)	missense	probably damaging	1.00
R5860:Ccnk	UTSW	12	108,153,466 (GRCm39)	missense	probably damaging	0.99
R6522:Ccnk	UTSW	12	108,153,446 (GRCm39)	missense	probably damaging	0.99
R6864:Ccnk	UTSW	12	108,168,473 (GRCm39)	unclassified	probably benign
R7135:Ccnk	UTSW	12	108,152,734 (GRCm39)	missense	probably damaging	0.96
R7179:Ccnk	UTSW	12	108,153,517 (GRCm39)	missense	probably damaging	1.00
R7278:Ccnk	UTSW	12	108,159,964 (GRCm39)	missense	possibly damaging	0.63
R7592:Ccnk	UTSW	12	108,152,724 (GRCm39)	missense	possibly damaging	0.79
R8191:Ccnk	UTSW	12	108,159,933 (GRCm39)	missense	probably benign	0.27
R8271:Ccnk	UTSW	12	108,162,114 (GRCm39)	splice site	probably benign
R8273:Ccnk	UTSW	12	108,152,758 (GRCm39)	missense	probably damaging	1.00
R9155:Ccnk	UTSW	12	108,159,978 (GRCm39)	missense	probably damaging	1.00
R9279:Ccnk	UTSW	12	108,161,946 (GRCm39)	missense	unknown
R9558:Ccnk	UTSW	12	108,155,397 (GRCm39)	missense	possibly damaging	0.71
R9566:Ccnk	UTSW	12	108,152,695 (GRCm39)	missense	probably benign	0.04

Posted On

2015-04-16