Incidental Mutation 'R8187:Ccnh'
ID 634936
Institutional Source Beutler Lab
Gene Symbol Ccnh
Ensembl Gene ENSMUSG00000021548
Gene Name cyclin H
Synonyms 6330408H09Rik
MMRRC Submission 067610-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.957) question?
Stock # R8187 (G1)
Quality Score 225.009
Status Validated
Chromosome 13
Chromosomal Location 85337504-85361850 bp(+) (GRCm39)
Type of Mutation start codon destroyed
DNA Base Change (assembly) T to A at 85337656 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Lysine at position 1 (M1K)
Ref Sequence ENSEMBL: ENSMUSP00000131136 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022030] [ENSMUST00000163600] [ENSMUST00000164127] [ENSMUST00000165077]
AlphaFold Q61458
Predicted Effect probably null
Transcript: ENSMUST00000022030
AA Change: M1K

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000022030
Gene: ENSMUSG00000021548
AA Change: M1K

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
AA Change: M1K

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000129349
Gene: ENSMUSG00000021548
AA Change: M1K

DomainStartEndE-ValueType
CYCLIN 62 152 2.1e-13 SMART
SCOP:d1jkw_2 162 251 4e-24 SMART
Predicted Effect probably null
Transcript: ENSMUST00000164127
AA Change: M1K

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000131136
Gene: ENSMUSG00000021548
AA Change: M1K

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
AA Change: M1K

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000130839
Gene: ENSMUSG00000021548
AA Change: M1K

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: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.9%
Validation Efficiency 100% (57/57)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene 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: 57 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
3110009E18Rik A T 1: 120,115,913 (GRCm39) *122L probably null Het
4930438A08Rik A G 11: 58,180,548 (GRCm39) S200G Het
Adgre1 T A 17: 57,727,349 (GRCm39) S426R probably benign Het
Adgrg1 A G 8: 95,732,446 (GRCm39) E229G probably benign Het
Arhgap45 G A 10: 79,863,706 (GRCm39) A819T probably damaging Het
Arhgef39 A T 4: 43,498,999 (GRCm39) L84Q probably damaging Het
Bpifb9a A G 2: 154,111,377 (GRCm39) I544V probably benign Het
Brwd1 A T 16: 95,803,934 (GRCm39) L2079I probably damaging Het
Cdh16 T C 8: 105,344,870 (GRCm39) N415S probably damaging Het
Chuk T C 19: 44,079,551 (GRCm39) N317D probably benign Het
Cnot10 A T 9: 114,426,556 (GRCm39) C665* probably null Het
Csmd1 G T 8: 16,177,188 (GRCm39) H1358Q probably damaging Het
Cyp4f37 T C 17: 32,854,171 (GRCm39) V540A probably benign Het
Daam1 A G 12: 71,942,602 (GRCm39) D22G unknown Het
Dhdds A G 4: 133,727,679 (GRCm39) probably benign Het
Dnah5 T C 15: 28,384,355 (GRCm39) V3033A probably damaging Het
Dync1i2 A G 2: 71,044,865 (GRCm39) K25R probably benign Het
Efhc1 T A 1: 21,030,396 (GRCm39) S110T probably damaging Het
Emilin3 T C 2: 160,750,000 (GRCm39) N583S possibly damaging Het
Eri2 A G 7: 119,384,767 (GRCm39) V578A probably damaging Het
F2rl2 A T 13: 95,837,911 (GRCm39) I319L probably benign Het
Gjd3 A C 11: 102,691,381 (GRCm39) Y207* probably null Het
Gm19965 T A 1: 116,749,532 (GRCm39) C404* probably null Het
Gm2832 A T 14: 41,000,915 (GRCm39) H51L Het
Gpam T C 19: 55,066,269 (GRCm39) T631A probably benign Het
Hdac2 T C 10: 36,864,132 (GRCm39) S114P probably damaging Het
Hsd3b1 T A 3: 98,759,933 (GRCm39) T353S probably damaging Het
Idh1 T C 1: 65,198,700 (GRCm39) D390G probably damaging Het
Il36g T G 2: 24,082,617 (GRCm39) L131V probably damaging Het
Irs1 G T 1: 82,266,021 (GRCm39) P732T probably damaging Het
Kansl1l T A 1: 66,840,896 (GRCm39) I135F possibly damaging Het
Mcc A G 18: 44,667,327 (GRCm39) V208A possibly damaging Het
Mgrn1 A G 16: 4,738,229 (GRCm39) N261S probably benign Het
Mybpc2 T A 7: 44,161,894 (GRCm39) N519Y possibly damaging Het
Nbeal1 G C 1: 60,276,310 (GRCm39) V684L probably benign Het
Nr1h5 G T 3: 102,861,986 (GRCm39) H94Q probably benign Het
Nsmce4a A G 7: 130,144,519 (GRCm39) V128A probably benign Het
Or5w14 T G 2: 87,541,624 (GRCm39) S209R probably benign Het
Or6y1 TTGTGTG TTGTG 1: 174,276,838 (GRCm39) probably null Het
Osmr T A 15: 6,850,485 (GRCm39) Y707F probably damaging Het
Pck1 G T 2: 172,997,033 (GRCm39) R225L probably benign Het
Prom1 A T 5: 44,191,708 (GRCm39) L354Q probably damaging Het
Rev3l C A 10: 39,682,693 (GRCm39) Q300K probably benign Het
Rin3 T A 12: 102,292,066 (GRCm39) C88S unknown Het
Slc37a4 T C 9: 44,311,291 (GRCm39) V194A possibly damaging Het
Smpd4 T A 16: 17,446,999 (GRCm39) H242Q probably damaging Het
Spen T C 4: 141,200,216 (GRCm39) I2804V possibly damaging Het
Srrm4 A C 5: 116,587,680 (GRCm39) F359L unknown Het
Svs5 A G 2: 164,079,692 (GRCm39) Y72H possibly damaging Het
Tmem158 T A 9: 123,088,875 (GRCm39) T246S unknown Het
Ttn A G 2: 76,633,735 (GRCm39) V14038A probably benign Het
Ttn A G 2: 76,559,790 (GRCm39) I29537T probably damaging Het
Ttn A G 2: 76,626,069 (GRCm39) S14997P probably damaging Het
Vmn1r231 A T 17: 21,110,893 (GRCm39) D7E probably benign Het
Vmn2r14 A G 5: 109,368,420 (GRCm39) S191P probably benign Het
Zfp599 G T 9: 22,161,111 (GRCm39) Y351* probably null Het
Zfp729a T A 13: 67,769,918 (GRCm39) K104* probably null 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
R5696:Ccnh UTSW 13 85,344,446 (GRCm39) critical splice donor site probably null
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
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'- ATGGTTCTTTGTGCCCAGGC -3'
(R):5'- TCAGGAGAGGTCCCAGGTTTAG -3'

Sequencing Primer
(F):5'- TCTGGAACCTGGATCCCTG -3'
(R):5'- CCAGGTTTAGGGTGGGCACAG -3'
Posted On 2020-07-13