Incidental Mutation 'R7179:Ccnk'
ID 558861
Institutional Source Beutler Lab
Gene Symbol Ccnk
Ensembl Gene ENSMUSG00000021258
Gene Name cyclin K
Synonyms CycK, CPR4
MMRRC Submission 045269-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R7179 (G1)
Quality Score 225.009
Status Validated
Chromosome 12
Chromosomal Location 108145838-108169618 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 108153517 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Asparagine at position 93 (Y93N)
Ref Sequence ENSEMBL: ENSMUSP00000152784 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000101055] [ENSMUST00000221167]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000101055
AA Change: Y93N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000098616
Gene: ENSMUSG00000021258
AA Change: Y93N

DomainStartEndE-ValueType
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 probably damaging
Transcript: ENSMUST00000221167
AA Change: Y93N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.5%
  • 20x: 98.1%
Validation Efficiency 100% (76/76)
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: 75 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acot13 A T 13: 25,002,154 (GRCm39) I96K probably benign Het
Adam6a A G 12: 113,509,291 (GRCm39) T555A probably benign Het
Alms1 C T 6: 85,598,351 (GRCm39) P1059L probably benign Het
Apol7c T C 15: 77,409,843 (GRCm39) T368A probably benign Het
Arfgef3 A T 10: 18,475,015 (GRCm39) L1557Q probably damaging Het
Baz2a C T 10: 127,960,326 (GRCm39) R1514W probably damaging Het
Bmp3 T A 5: 99,020,622 (GRCm39) D348E probably damaging Het
Bves A G 10: 45,230,913 (GRCm39) S295G probably damaging Het
Carmil1 A G 13: 24,204,052 (GRCm39) C1328R probably benign Het
Ccr1 A T 9: 123,764,089 (GRCm39) V147D probably damaging Het
Cd24a G A 10: 43,458,636 (GRCm39) G36S probably benign Het
Cep104 A G 4: 154,077,324 (GRCm39) Y569C probably damaging Het
Chd2 A T 7: 73,125,168 (GRCm39) I884N probably damaging Het
Cnst A T 1: 179,406,947 (GRCm39) probably benign Het
Col22a1 A G 15: 71,805,262 (GRCm39) L146P unknown Het
Col25a1 G T 3: 130,323,768 (GRCm39) R321L probably damaging Het
Ctnnd2 T C 15: 30,683,510 (GRCm39) Y504H possibly damaging Het
D3Ertd751e C A 3: 41,703,143 (GRCm39) Q73K probably damaging Het
Dsc2 C T 18: 20,168,332 (GRCm39) probably null Het
Eya1 A T 1: 14,373,076 (GRCm39) S14R probably damaging Het
Fam131c A T 4: 141,110,328 (GRCm39) probably null Het
Flvcr2 T C 12: 85,793,965 (GRCm39) F114L possibly damaging Het
Fyn A G 10: 39,408,120 (GRCm39) D321G possibly damaging Het
Galnt5 A C 2: 57,888,621 (GRCm39) M74L probably benign Het
Garin4 G A 1: 190,896,218 (GRCm39) R142C probably damaging Het
Gas2l2 G A 11: 83,313,288 (GRCm39) P675S probably benign Het
Gm9508 G T 10: 77,532,470 (GRCm39) Q200K unknown Het
Greb1l G A 18: 10,544,576 (GRCm39) S1390N probably benign Het
Hdac5 G T 11: 102,095,385 (GRCm39) T430K possibly damaging Het
Hjurp TCTGGGAGGGCTTGCTCCGGGGGCAGTGTGTCCTGTTCTTGTGCAGCCCCTGCT TCT 1: 88,194,000 (GRCm39) probably benign Het
Khnyn C T 14: 56,131,811 (GRCm39) P578S probably damaging Het
Lepr A T 4: 101,602,856 (GRCm39) T215S probably benign Het
Lrfn5 G A 12: 61,890,768 (GRCm39) V686I probably benign Het
Mapkap1 T A 2: 34,408,712 (GRCm39) H233Q possibly damaging Het
Mcm3 A G 1: 20,885,081 (GRCm39) I201T probably damaging Het
Metrnl G A 11: 121,606,734 (GRCm39) R263Q probably damaging Het
Mettl22 A G 16: 8,295,924 (GRCm39) E71G probably benign Het
Muc16 T C 9: 18,553,304 (GRCm39) T4330A probably benign Het
Mug1 A G 6: 121,834,379 (GRCm39) T387A probably benign Het
Myh4 A G 11: 67,135,550 (GRCm39) D379G probably benign Het
Nbas A G 12: 13,455,398 (GRCm39) D1204G possibly damaging Het
Ncor2 T C 5: 125,132,847 (GRCm39) K478E unknown Het
Or14a256 A T 7: 86,265,574 (GRCm39) L93Q possibly damaging Het
Or51d1 A G 7: 102,347,477 (GRCm39) T11A probably benign Het
Or5k1 T A 16: 58,617,250 (GRCm39) I320F probably benign Het
Osbpl7 G A 11: 96,941,662 (GRCm39) V62I probably benign Het
Pak1ip1 A G 13: 41,163,018 (GRCm39) N246S probably damaging Het
Prim1 A G 10: 127,851,845 (GRCm39) Y39C probably damaging Het
Prl3b1 G T 13: 27,427,827 (GRCm39) V46L probably benign Het
Prss54 A T 8: 96,292,199 (GRCm39) S127T probably benign Het
Rasal3 G A 17: 32,611,391 (GRCm39) T912M probably damaging Het
Rrp12 T A 19: 41,872,217 (GRCm39) T420S probably benign Het
Rspo1 A G 4: 124,898,831 (GRCm39) N51D probably damaging Het
Rufy4 A G 1: 74,172,035 (GRCm39) R253G probably benign Het
Scaf1 G A 7: 44,657,167 (GRCm39) R571C unknown Het
Scn2a A T 2: 65,532,323 (GRCm39) H645L probably damaging Het
Sec24b A G 3: 129,782,595 (GRCm39) S1132P probably damaging Het
Slc1a2 A G 2: 102,586,290 (GRCm39) K298R probably damaging Het
Slc25a54 T A 3: 109,014,573 (GRCm39) N230K probably benign Het
Slc27a4 T G 2: 29,705,664 (GRCm39) Y617* probably null Het
Slc2a10 T C 2: 165,357,269 (GRCm39) S310P probably damaging Het
Snx33 C T 9: 56,833,151 (GRCm39) R306H probably damaging Het
Spag9 A T 11: 93,980,258 (GRCm39) probably null Het
Spg11 A T 2: 121,932,270 (GRCm39) probably null Het
Sycp2l A G 13: 41,283,258 (GRCm39) T165A probably damaging Het
Syt14 A G 1: 192,615,571 (GRCm39) C189R probably damaging Het
Taar9 A T 10: 23,984,882 (GRCm39) L184Q probably damaging Het
Tkt C T 14: 30,281,815 (GRCm39) P111L probably damaging Het
Trpc1 A T 9: 95,603,197 (GRCm39) L445Q possibly damaging Het
Usp53 A G 3: 122,743,359 (GRCm39) S526P probably benign Het
Vps54 T G 11: 21,248,791 (GRCm39) W447G probably damaging Het
Xirp2 A T 2: 67,340,177 (GRCm39) H806L probably benign Het
Zfp451 A T 1: 33,841,651 (GRCm39) H410Q unknown Het
Zfp688 A G 7: 127,018,484 (GRCm39) C214R probably damaging Het
Zic4 A G 9: 91,261,174 (GRCm39) D143G possibly damaging Het
Other mutations in Ccnk
AlleleSourceChrCoordTypePredicted EffectPPH 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
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
Predicted Primers PCR Primer
(F):5'- GGCAGTACTCACTCTGACACTAG -3'
(R):5'- AGTGTTGTCCATGCTGACC -3'

Sequencing Primer
(F):5'- CCTAAGATTCCTGTTTACTGGATGGC -3'
(R):5'- AGCAAGCACTTTCTGGA -3'
Posted On 2019-06-26