Incidental Mutation 'R5696:Ccnh'
ID 450697
Institutional Source Beutler Lab
Gene Symbol Ccnh
Ensembl Gene ENSMUSG00000021548
Gene Name cyclin H
Synonyms 6330408H09Rik
Accession Numbers
Essential gene? Probably essential (E-score: 0.957) question?
Stock # R5696 (G1)
Quality Score 225
Status Not validated
Chromosome 13
Chromosomal Location 85337504-85361850 bp(+) (GRCm39)
Type of Mutation critical splice donor site (2 bp from exon)
DNA Base Change (assembly) T to A at 85344446 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000130839 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022030] [ENSMUST00000163600] [ENSMUST00000164127] [ENSMUST00000165077]
AlphaFold Q61458
Predicted Effect probably null
Transcript: ENSMUST00000022030
SMART Domains Protein: ENSMUSP00000022030
Gene: ENSMUSG00000021548

DomainStartEndE-ValueType
CYCLIN 62 152 2.1e-13 SMART
SCOP:d1jkw_2 162 287 8e-47 SMART
Blast:CYCLIN 169 237 2e-15 BLAST
Predicted Effect probably null
Transcript: ENSMUST00000163600
SMART Domains Protein: ENSMUSP00000129349
Gene: ENSMUSG00000021548

DomainStartEndE-ValueType
CYCLIN 62 152 2.1e-13 SMART
SCOP:d1jkw_2 162 251 4e-24 SMART
Predicted Effect probably null
Transcript: ENSMUST00000164127
SMART Domains Protein: ENSMUSP00000131136
Gene: ENSMUSG00000021548

DomainStartEndE-ValueType
CYCLIN 62 152 2.1e-13 SMART
Pfam:Cyclin_C_2 162 262 3.6e-32 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000165077
SMART Domains Protein: ENSMUSP00000130839
Gene: ENSMUSG00000021548

DomainStartEndE-ValueType
PDB:1JKW|A 1 111 1e-72 PDB
SCOP:d1jkw_1 11 104 1e-18 SMART
Blast:CYCLIN 62 111 5e-25 BLAST
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.6%
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 belongs to the highly conserved cyclin family, whose members are characterized by a dramatic periodicity in protein abundance through the cell cycle. Cyclins function as regulators of CDK kinases. Different cyclins exhibit distinct expression and degradation patterns which contribute to the temporal coordination of each mitotic event. This cyclin forms a complex with CDK7 kinase and ring finger protein MAT1. The kinase complex is able to phosphorylate CDK2 and CDC2 kinases, thus functions as a CDK-activating kinase (CAK). This cyclin and its kinase partner are components of TFIIH, as well as RNA polymerase II protein complexes. They participate in two different transcriptional regulation processes, suggesting an important link between basal transcription control and the cell cycle machinery. A pseudogene of this gene is found on chromosome 4. Alternate splicing results in multiple transcript variants.[provided by RefSeq, Nov 2010]
Allele List at MGI
Other mutations in this stock
Total: 73 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam8 G A 7: 139,569,159 (GRCm39) R186W probably benign Het
Afg3l2 A G 18: 67,540,529 (GRCm39) I660T probably damaging Het
Amtn T A 5: 88,532,944 (GRCm39) Y186* probably null Het
Atosa A G 9: 74,917,399 (GRCm39) E666G probably benign Het
Atrip A G 9: 108,894,569 (GRCm39) S453P possibly damaging Het
Bahcc1 T C 11: 120,164,813 (GRCm39) L840P probably damaging Het
Capn2 T C 1: 182,306,165 (GRCm39) E527G possibly damaging Het
Caprin2 A T 6: 148,779,316 (GRCm39) Y164N possibly damaging Het
Cdon G T 9: 35,403,162 (GRCm39) V1091F possibly damaging Het
Ceacam14 A G 7: 17,548,267 (GRCm39) Y119C probably damaging Het
Ces2h A G 8: 105,745,611 (GRCm39) K445E possibly damaging Het
Cfap46 A G 7: 139,191,947 (GRCm39) S2357P probably damaging Het
Commd4 A T 9: 57,063,499 (GRCm39) S86R possibly damaging Het
Cpsf6 A T 10: 117,196,934 (GRCm39) probably benign Het
Dag1 A T 9: 108,086,646 (GRCm39) V165E probably benign Het
Dmxl1 A T 18: 50,065,008 (GRCm39) K2618* probably null Het
Dnah17 A G 11: 117,991,882 (GRCm39) Y1229H probably benign Het
Endov T A 11: 119,382,625 (GRCm39) L24Q probably damaging Het
Fap C T 2: 62,332,803 (GRCm39) V717M probably damaging Het
Fbxl2 A G 9: 113,815,546 (GRCm39) L239P probably damaging Het
Fbxl5 A T 5: 43,916,182 (GRCm39) V367D possibly damaging Het
Fkbp10 G T 11: 100,314,352 (GRCm39) W384L probably damaging Het
Gbp8 C T 5: 105,166,682 (GRCm39) V216I possibly damaging Het
Gclm G A 3: 122,059,936 (GRCm39) A239T probably benign Het
Gm11569 C T 11: 99,689,556 (GRCm39) probably benign Het
Gnas C A 2: 174,141,468 (GRCm39) probably benign Het
Grb10 T A 11: 11,883,566 (GRCm39) N508I probably benign Het
Gykl1 T G 18: 52,827,267 (GRCm39) I158M probably benign Het
Ide G A 19: 37,295,420 (GRCm39) T214M unknown Het
Il12rb2 T A 6: 67,272,262 (GRCm39) Q341H possibly damaging Het
Ints1 T C 5: 139,740,744 (GRCm39) E1946G probably benign Het
Kdelr3 T C 15: 79,410,100 (GRCm39) probably null Het
Kif1b A C 4: 149,358,306 (GRCm39) probably null Het
Kri1 A G 9: 21,191,533 (GRCm39) I320T probably damaging Het
Krt9 TCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCC TCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCC 11: 100,079,903 (GRCm39) probably benign Het
Lin9 T C 1: 180,486,646 (GRCm39) S111P probably benign Het
Lpcat2b C A 5: 107,580,773 (GRCm39) P34Q probably damaging Het
Ltk T A 2: 119,590,080 (GRCm39) T49S probably benign Het
Map3k9 A T 12: 81,780,896 (GRCm39) H421Q probably benign Het
Mapkbp1 T A 2: 119,852,201 (GRCm39) probably null Het
Mcm4 A G 16: 15,443,434 (GRCm39) S830P probably damaging Het
Nek10 T A 14: 14,860,736 (GRCm38) probably null Het
Nlrp9b A T 7: 19,758,417 (GRCm39) R551S probably benign Het
Nol4l T C 2: 153,260,026 (GRCm39) T143A probably damaging Het
Or1r1 T C 11: 73,875,362 (GRCm39) H24R possibly damaging Het
Or51g1 T A 7: 102,633,748 (GRCm39) T208S probably benign Het
Or6z5 T C 7: 6,477,742 (GRCm39) probably null Het
Or7a39 A T 10: 78,715,919 (GRCm39) R304S probably benign Het
Pde4dip G T 3: 97,616,806 (GRCm39) A1812D probably damaging Het
Plekhb1 C A 7: 100,305,960 (GRCm39) G26C probably damaging Het
Polr1a T A 6: 71,906,410 (GRCm39) F409I probably benign Het
Ptpn13 T A 5: 103,702,625 (GRCm39) M1197K probably benign Het
Qrich2 T C 11: 116,335,828 (GRCm39) I2114V probably damaging Het
Rbm27 T C 18: 42,450,731 (GRCm39) Y449H probably damaging Het
Rp1l1 A G 14: 64,267,195 (GRCm39) D927G probably damaging Het
Secisbp2 C A 13: 51,833,857 (GRCm39) Q666K probably damaging Het
Slc45a2 T C 15: 11,001,219 (GRCm39) I106T probably damaging Het
Slx4 G T 16: 3,797,831 (GRCm39) Q1518K probably damaging Het
Smim10l1 T C 6: 133,082,489 (GRCm39) F12S probably damaging Het
Son T C 16: 91,468,301 (GRCm39) V306A possibly damaging Het
Stab1 A G 14: 30,882,178 (GRCm39) S506P probably benign Het
Syne2 A C 12: 76,040,919 (GRCm39) D3859A probably benign Het
Tab1 T A 15: 80,032,930 (GRCm39) Y71* probably null Het
Tarbp1 A C 8: 127,174,079 (GRCm39) M909R probably damaging Het
Tex15 T G 8: 34,063,220 (GRCm39) S1157R probably benign Het
Tnni3 G A 7: 4,523,453 (GRCm39) T120I probably benign Het
Ttn T C 2: 76,747,888 (GRCm39) E4387G probably benign Het
Ugt3a1 G A 15: 9,361,534 (GRCm39) silent Het
Unc5d T C 8: 29,156,870 (GRCm39) I783V probably benign Het
Usp40 T C 1: 87,923,474 (GRCm39) T266A probably benign Het
Vmn2r59 C T 7: 41,695,468 (GRCm39) V315I probably benign Het
Zbtb48 G T 4: 152,105,067 (GRCm39) H532N probably damaging Het
Zfp1005 C T 2: 150,111,394 (GRCm39) H695Y possibly damaging Het
Other mutations in Ccnh
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01984:Ccnh APN 13 85,354,270 (GRCm39) missense probably damaging 1.00
IGL02544:Ccnh APN 13 85,350,460 (GRCm39) nonsense probably null
IGL02547:Ccnh APN 13 85,350,623 (GRCm39) unclassified probably benign
IGL03167:Ccnh APN 13 85,345,685 (GRCm39) splice site probably benign
R0121:Ccnh UTSW 13 85,354,312 (GRCm39) missense probably damaging 1.00
R1781:Ccnh UTSW 13 85,354,254 (GRCm39) missense possibly damaging 0.59
R3775:Ccnh UTSW 13 85,354,243 (GRCm39) unclassified probably benign
R4748:Ccnh UTSW 13 85,337,758 (GRCm39) missense probably benign 0.41
R4905:Ccnh UTSW 13 85,354,254 (GRCm39) missense possibly damaging 0.59
R5976:Ccnh UTSW 13 85,338,982 (GRCm39) missense probably damaging 1.00
R6784:Ccnh UTSW 13 85,360,884 (GRCm39) missense probably benign
R7841:Ccnh UTSW 13 85,337,712 (GRCm39) missense probably benign 0.00
R7871:Ccnh UTSW 13 85,359,991 (GRCm39) nonsense probably null
R8187:Ccnh UTSW 13 85,337,656 (GRCm39) start codon destroyed probably null 1.00
R8767:Ccnh UTSW 13 85,356,959 (GRCm39) nonsense probably null
R9454:Ccnh UTSW 13 85,350,521 (GRCm39) missense probably benign 0.04
Predicted Primers PCR Primer
(F):5'- TGGCCAAGGCAGTAGAGTTTC -3'
(R):5'- AAGTTGCAGGTCAGATGTCATTATC -3'

Sequencing Primer
(F):5'- TTTAAGGAAACCTGTGCATGAGTG -3'
(R):5'- TTGTCAACAGTCCACAGA -3'
Posted On 2017-01-03