Incidental Mutation 'IGL01141:Ccno'
ID 52611
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ccno
Ensembl Gene ENSMUSG00000042417
Gene Name cyclin O
Synonyms Ung2, Ccnu
Accession Numbers
Essential gene? Probably non essential (E-score: 0.229) question?
Stock # IGL01141
Quality Score
Status
Chromosome 13
Chromosomal Location 113124363-113127313 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 113125561 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 175 (D175G)
Ref Sequence ENSEMBL: ENSMUSP00000040083 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000038404] [ENSMUST00000092089]
AlphaFold P0C242
Predicted Effect probably damaging
Transcript: ENSMUST00000038404
AA Change: D175G

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000040083
Gene: ENSMUSG00000042417
AA Change: D175G

DomainStartEndE-ValueType
low complexity region 6 17 N/A INTRINSIC
low complexity region 30 46 N/A INTRINSIC
low complexity region 63 79 N/A INTRINSIC
CYCLIN 140 224 1.23e-19 SMART
Cyclin_C 233 350 3.49e-7 SMART
CYCLIN 244 327 5.77e0 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000092089
SMART Domains Protein: ENSMUSP00000089721
Gene: ENSMUSG00000074651

DomainStartEndE-ValueType
low complexity region 60 73 N/A INTRINSIC
Pfam:Geminin 169 258 4.8e-20 PFAM
low complexity region 262 272 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000224100
Predicted Effect noncoding transcript
Transcript: ENSMUST00000225555
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the cyclin protein family, and the encoded protein is involved in regulation of the cell cycle. Disruption of this gene is associated with primary ciliary dyskinesia-19. Alternative splicing results in multiple transcript variants. This gene, which has a previous symbol of UNG2, was erroneously identified as a uracil DNA glycosylase in PubMed ID: 2001396. A later publication, PubMed ID: 8419333, identified this gene's product as a cyclin protein family member. The UNG2 symbol is also used as a specific protein isoform name for the UNG gene (GeneID 7374), so confusion exists in the scientific literature and in some databases for these two genes. [provided by RefSeq, Jul 2014]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit pre-weaning lethality after E17, hydrocephaly, growth retardation, enlarged brain ventricles, thin cerebral cortex, nasal cavity congestion and impaired formation of deuterosomes and centrioles. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca8b A T 11: 109,828,556 (GRCm39) D1447E probably damaging Het
Atp2a3 T C 11: 72,873,491 (GRCm39) I788T probably damaging Het
Axin1 G A 17: 26,409,015 (GRCm39) E672K probably damaging Het
Cep83 C A 10: 94,624,619 (GRCm39) T632K probably benign Het
Ckmt1 A T 2: 121,193,474 (GRCm39) I345F probably benign Het
Cntnap1 G A 11: 101,069,633 (GRCm39) probably benign Het
Cstdc3 A G 16: 36,128,426 (GRCm39) E7G probably benign Het
Edem2 A G 2: 155,550,948 (GRCm39) Y340H probably benign Het
Erich3 A G 3: 154,419,653 (GRCm39) K249R probably benign Het
Fndc9 T C 11: 46,128,526 (GRCm39) I15T probably benign Het
Grip2 G T 6: 91,759,878 (GRCm39) Q300K probably benign Het
Herc2 T C 7: 55,862,589 (GRCm39) V4050A possibly damaging Het
Jup A T 11: 100,277,075 (GRCm39) D44E probably benign Het
Lingo3 G T 10: 80,671,147 (GRCm39) P261Q probably damaging Het
Lrrfip2 C T 9: 111,048,783 (GRCm39) R311W probably damaging Het
Mansc1 C A 6: 134,598,748 (GRCm39) L56F probably benign Het
Map1b A G 13: 99,571,269 (GRCm39) I484T probably damaging Het
Mpeg1 T A 19: 12,440,149 (GRCm39) F536I probably damaging Het
Mrgprb1 T G 7: 48,097,775 (GRCm39) T46P probably benign Het
Mug1 A G 6: 121,847,458 (GRCm39) N612S probably benign Het
Or5p56 T C 7: 107,589,758 (GRCm39) F62S probably damaging Het
Or6c212 T A 10: 129,558,814 (GRCm39) I200L probably benign Het
Pax8 A G 2: 24,331,162 (GRCm39) S178P probably damaging Het
Peak1 A G 9: 56,165,811 (GRCm39) F706L probably benign Het
Prkdc A G 16: 15,544,568 (GRCm39) T1853A probably damaging Het
Reln A C 5: 22,174,031 (GRCm39) F2024C probably damaging Het
Reln G T 5: 22,124,067 (GRCm39) P2813Q probably damaging Het
Riox1 A G 12: 83,998,568 (GRCm39) Q368R probably damaging Het
Rspry1 T C 8: 95,376,483 (GRCm39) V335A probably benign Het
Scn3a T C 2: 65,325,457 (GRCm39) N1020S possibly damaging Het
Scyl2 A G 10: 89,476,497 (GRCm39) V876A probably benign Het
Sdhaf3 T A 6: 6,956,141 (GRCm39) F39I probably damaging Het
Sfxn4 T C 19: 60,839,452 (GRCm39) E202G possibly damaging Het
Slc1a4 A T 11: 20,258,644 (GRCm39) probably benign Het
Sln A G 9: 53,760,784 (GRCm39) I10V probably benign Het
Ssh2 A G 11: 77,340,552 (GRCm39) E568G probably damaging Het
Supt7l G A 5: 31,675,779 (GRCm39) P270S probably benign Het
Tanc2 A G 11: 105,777,300 (GRCm39) probably benign Het
Tatdn1 A T 15: 58,781,416 (GRCm39) probably benign Het
Tfip11 C T 5: 112,477,369 (GRCm39) P117L possibly damaging Het
Vpreb1a T C 16: 16,686,951 (GRCm39) M9V probably benign Het
Other mutations in Ccno
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02875:Ccno APN 13 113,124,586 (GRCm39) missense possibly damaging 0.91
R0193:Ccno UTSW 13 113,125,418 (GRCm39) unclassified probably benign
R0329:Ccno UTSW 13 113,126,530 (GRCm39) missense probably damaging 1.00
R0330:Ccno UTSW 13 113,126,530 (GRCm39) missense probably damaging 1.00
R0387:Ccno UTSW 13 113,126,401 (GRCm39) missense probably damaging 1.00
R0556:Ccno UTSW 13 113,124,820 (GRCm39) critical splice donor site probably null
R4197:Ccno UTSW 13 113,125,603 (GRCm39) missense probably damaging 0.99
R4683:Ccno UTSW 13 113,125,543 (GRCm39) splice site probably null
R4825:Ccno UTSW 13 113,124,633 (GRCm39) missense probably benign 0.14
R6180:Ccno UTSW 13 113,126,379 (GRCm39) missense probably damaging 1.00
R6574:Ccno UTSW 13 113,124,719 (GRCm39) missense probably benign 0.01
R7871:Ccno UTSW 13 113,124,647 (GRCm39) missense probably benign 0.00
R8142:Ccno UTSW 13 113,125,489 (GRCm39) missense probably damaging 1.00
R8423:Ccno UTSW 13 113,124,678 (GRCm39) missense possibly damaging 0.52
R8829:Ccno UTSW 13 113,126,239 (GRCm39) missense probably benign 0.00
R8832:Ccno UTSW 13 113,126,239 (GRCm39) missense probably benign 0.00
Posted On 2013-06-21