Mutagenetix > Incidental Mutation

Incidental Mutation 'R7592:Ccnk'

587469

Institutional Source

Beutler Lab

Gene Symbol

Ccnk

Ensembl Gene

ENSMUSG00000021258

Gene Name

cyclin K

Synonyms

CycK, CPR4

MMRRC Submission

045639-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7592 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

108145838-108169618 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 108152724 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 14 (S14P)

Ref Sequence

ENSEMBL: ENSMUSP00000152784 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

possibly damaging
Transcript: ENSMUST00000101055
AA Change: S14P

PolyPhen 2 Score 0.787 (Sensitivity: 0.85; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000098616
Gene: ENSMUSG00000021258
AA Change: S14P

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

possibly damaging
Transcript: ENSMUST00000221167
AA Change: S14P

PolyPhen 2 Score 0.787 (Sensitivity: 0.85; Specificity: 0.93)

Meta Mutation Damage Score

0.0703

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.8%

Validation Efficiency

98% (56/57)

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: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930562C15Rik	A	G	16: 4,667,138 (GRCm39)	T204A	unknown	Het
Abca12	T	C	1: 71,327,836 (GRCm39)	T1415A	probably benign	Het
Adamtsl3	A	G	7: 81,986,459 (GRCm39)	T24A	probably benign	Het
Ankrd13b	A	C	11: 77,367,327 (GRCm39)	V194G	probably benign	Het
Aurkc	C	T	7: 7,003,006 (GRCm39)	T167I	probably benign	Het
Capn1	T	C	19: 6,064,469 (GRCm39)	Y10C	probably benign	Het
Cebpe	T	A	14: 54,949,298 (GRCm39)	I40F	probably damaging	Het
Cers3	G	A	7: 66,439,377 (GRCm39)	C296Y	probably damaging	Het
Cog8	A	T	8: 107,776,861 (GRCm39)	C505S	possibly damaging	Het
Col4a3	A	G	1: 82,626,338 (GRCm39)	I92V	unknown	Het
Col5a3	T	A	9: 20,708,689 (GRCm39)	H645L	unknown	Het
Crispld1	A	T	1: 17,798,990 (GRCm39)	E37V	possibly damaging	Het
Csmd2	A	G	4: 128,357,591 (GRCm39)	Y1684C		Het
Cstdc5	A	T	16: 36,187,862 (GRCm39)	M1K	probably null	Het
Dcst1	C	A	3: 89,260,599 (GRCm39)	S555I	probably benign	Het
Drc1	A	G	5: 30,499,060 (GRCm39)	S70G	possibly damaging	Het
Elavl2	A	T	4: 91,199,808 (GRCm39)		probably null	Het
Emc1	A	G	4: 139,087,877 (GRCm39)	H300R	probably benign	Het
Gcnt4	G	A	13: 97,083,669 (GRCm39)	V322I	probably benign	Het
Gsg1l2	A	G	11: 67,665,584 (GRCm39)	N51D	probably benign	Het
Gucy2e	A	T	11: 69,114,150 (GRCm39)		probably null	Het
Hip1r	A	G	5: 124,136,036 (GRCm39)	E579G	probably benign	Het
Hoxa4	T	C	6: 52,168,520 (GRCm39)	H50R	unknown	Het
Htr7	T	C	19: 36,034,292 (GRCm39)	Y121C	probably damaging	Het
Ift43	G	A	12: 86,207,964 (GRCm39)	D111N	probably damaging	Het
Itih3	A	G	14: 30,630,722 (GRCm39)	V863A	probably damaging	Het
Macf1	T	C	4: 123,304,686 (GRCm39)		probably benign	Het
Mgat3	A	G	15: 80,095,193 (GRCm39)	K7E	probably damaging	Het
Ndst4	T	A	3: 125,364,436 (GRCm39)	V371E	probably damaging	Het
Npr1	T	G	3: 90,372,323 (GRCm39)	D163A	possibly damaging	Het
Nudt12	T	C	17: 59,313,589 (GRCm39)	I330V	probably benign	Het
Or2a20	T	G	6: 43,194,179 (GRCm39)	C111G	probably damaging	Het
Or4k2	T	A	14: 50,424,020 (GRCm39)	Y219F	probably damaging	Het
Or51l4	C	A	7: 103,404,279 (GRCm39)	C171F	probably damaging	Het
Or7g32	C	A	9: 19,389,128 (GRCm39)	M139I	possibly damaging	Het
Poc1a	A	T	9: 106,226,967 (GRCm39)	R402S	probably benign	Het
Prex2	G	T	1: 11,193,437 (GRCm39)	V470L	probably damaging	Het
Prom1	T	C	5: 44,220,469 (GRCm39)	E93G	probably damaging	Het
Psma1	A	T	7: 113,868,961 (GRCm39)	M180K	probably benign	Het
Pudp	A	T	18: 50,701,053 (GRCm39)	F227I	probably damaging	Het
Rab15	T	A	12: 76,851,223 (GRCm39)	Q60L	probably damaging	Het
Scaf8	T	C	17: 3,221,497 (GRCm39)		probably null	Het
Septin9	T	A	11: 117,181,488 (GRCm39)	I96N	probably damaging	Het
Sez6	T	C	11: 77,868,876 (GRCm39)	S976P	probably damaging	Het
Slc2a12	A	G	10: 22,540,802 (GRCm39)	Y219C	probably damaging	Het
Slc38a9	T	A	13: 112,831,889 (GRCm39)	I213K	probably damaging	Het
Stil	T	A	4: 114,881,005 (GRCm39)	D516E	probably benign	Het
Supt20	A	G	3: 54,614,543 (GRCm39)	D184G	probably damaging	Het
Tars3	G	A	7: 65,308,619 (GRCm39)	S263N	probably benign	Het
Tmem181a	C	A	17: 6,339,295 (GRCm39)	T68K	probably benign	Het
Trav21-dv12	G	T	14: 54,113,997 (GRCm39)	C39F	probably damaging	Het
Tshz1	T	C	18: 84,032,173 (GRCm39)	E745G	probably damaging	Het
Ugt1a8	T	A	1: 88,015,904 (GRCm39)	F106I	probably benign	Het
Vmn1r39	C	A	6: 66,781,428 (GRCm39)	V297L	probably benign	Het
Vmn2r101	G	A	17: 19,811,443 (GRCm39)		probably null	Het
Vmn2r69	GAAAA	GAAAAA	7: 85,060,768 (GRCm39)		probably null	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
IGL02557:Ccnk	APN	12	108,161,985 (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
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

Predicted Primers

PCR Primer
(F):5'- GGGAATGAGTCCTGCATCAG -3'
(R):5'- TGCATGCTTGTCGACAGTAGC -3'

Sequencing Primer
(F):5'- ATGAGTCCTGCATCAGCCGTG -3'
(R):5'- GCATGCTTGTCGACAGTAGCTAATC -3'

Posted On

2019-10-24