Incidental Mutation 'IGL01521:Rgcc'
ID 90532
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Rgcc
Ensembl Gene ENSMUSG00000022018
Gene Name regulator of cell cycle
Synonyms 1190002H23Rik, RGC-32
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL01521
Quality Score
Status
Chromosome 14
Chromosomal Location 79526190-79539075 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to G at 79538185 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Arginine at position 69 (S69R)
Ref Sequence ENSEMBL: ENSMUSP00000022595 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022595]
AlphaFold Q9DBX1
Predicted Effect probably damaging
Transcript: ENSMUST00000022595
AA Change: S69R

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000022595
Gene: ENSMUSG00000022018
AA Change: S69R

DomainStartEndE-ValueType
Pfam:RGCC 1 137 7.3e-70 PFAM
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 is thought to regulate cell cycle progression. It is induced by p53 in response to DNA damage, or by sublytic levels of complement system proteins that result in activation of the cell cycle. The encoded protein localizes to the cytoplasm during interphase and to centrosomes during mitosis. The protein forms a complex with polo-like kinase 1. The protein also translocates to the nucleus in response to treatment with complement system proteins, and can associate with and increase the kinase activity of cell division cycle 2 protein. In different assays and cell types, overexpression of this protein has been shown to activate or suppress cell cycle progression. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a null allele exhibit partial prenatal lethality, abnormal vitelline vasculature morphology, and fetal growth restriction due to impaired placental angiogenesis. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 35 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aars1 A T 8: 111,770,419 (GRCm39) I406F possibly damaging Het
Adgrb2 A G 4: 129,886,085 (GRCm39) E75G probably damaging Het
Angptl2 T C 2: 33,136,215 (GRCm39) Y467H probably damaging Het
Arap1 G T 7: 101,049,812 (GRCm39) probably null Het
Arfgap1 G A 2: 180,613,371 (GRCm39) C22Y probably damaging Het
Artn G A 4: 117,784,484 (GRCm39) P25S probably damaging Het
Bicra G T 7: 15,723,113 (GRCm39) Q135K probably benign Het
Clpx T C 9: 65,226,026 (GRCm39) V367A probably damaging Het
Clstn3 C T 6: 124,434,990 (GRCm39) W308* probably null Het
Cpb2 T A 14: 75,495,071 (GRCm39) V67D probably damaging Het
Cyp2c38 A G 19: 39,449,114 (GRCm39) Y80H probably damaging Het
Dbt A G 3: 116,327,032 (GRCm39) D127G probably benign Het
Elp1 T A 4: 56,771,059 (GRCm39) E961D probably benign Het
Fhod1 G A 8: 106,057,055 (GRCm39) A973V probably benign Het
Flacc1 T G 1: 58,709,553 (GRCm39) K201Q probably damaging Het
Focad A T 4: 88,328,927 (GRCm39) *1713C probably null Het
Gemin5 A T 11: 58,025,744 (GRCm39) probably benign Het
Gpr22 C T 12: 31,758,709 (GRCm39) probably benign Het
Kif23 T A 9: 61,827,182 (GRCm39) T890S probably damaging Het
Kmt5b T A 19: 3,836,618 (GRCm39) S52T possibly damaging Het
Lipo3 A T 19: 33,763,083 (GRCm39) D53E probably damaging Het
Lrrc14b G A 13: 74,511,691 (GRCm39) R130C probably damaging Het
Myt1 T A 2: 181,467,704 (GRCm39) I1046K probably damaging Het
Napsa A T 7: 44,236,061 (GRCm39) I367F probably damaging Het
Or5aq1b C T 2: 86,902,077 (GRCm39) V134I probably benign Het
Or8b56 A T 9: 38,739,185 (GRCm39) Y66F probably damaging Het
Rin3 T A 12: 102,335,307 (GRCm39) I326N probably benign Het
Sipa1 C A 19: 5,711,006 (GRCm39) M1I probably null Het
Sirpb1a T A 3: 15,475,561 (GRCm39) M325L probably benign Het
Sult1a1 C A 7: 126,274,451 (GRCm39) V71F possibly damaging Het
Tgds G T 14: 118,350,506 (GRCm39) P349Q probably damaging Het
Tmem63c T A 12: 87,115,918 (GRCm39) H186Q probably damaging Het
Trappc9 A G 15: 72,924,016 (GRCm39) L242S probably damaging Het
Trip12 T A 1: 84,743,919 (GRCm39) probably benign Het
Zfp451 T C 1: 33,816,412 (GRCm39) probably null Het
Other mutations in Rgcc
AlleleSourceChrCoordTypePredicted EffectPPH Score
R4180:Rgcc UTSW 14 79,538,155 (GRCm39) missense probably benign 0.05
R4996:Rgcc UTSW 14 79,527,716 (GRCm39) missense possibly damaging 0.85
R5366:Rgcc UTSW 14 79,529,123 (GRCm39) missense probably benign 0.01
Posted On 2013-12-09