Incidental Mutation 'R3157:Pcgf6'
ID 263571
Institutional Source Beutler Lab
Gene Symbol Pcgf6
Ensembl Gene ENSMUSG00000025050
Gene Name polycomb group ring finger 6
Synonyms Rnf134, Mel18 and Bmi1-like RING finger protein, MBLR, 4933407A11Rik
MMRRC Submission 040608-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.458) question?
Stock # R3157 (G1)
Quality Score 225
Status Validated
Chromosome 19
Chromosomal Location 47022056-47039345 bp(-) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) T to C at 47028475 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000026032 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000026032]
AlphaFold Q99NA9
Predicted Effect probably benign
Transcript: ENSMUST00000026032
SMART Domains Protein: ENSMUSP00000026032
Gene: ENSMUSG00000025050

DomainStartEndE-ValueType
low complexity region 24 52 N/A INTRINSIC
coiled coil region 71 113 N/A INTRINSIC
RING 137 175 3.58e-6 SMART
Pfam:RAWUL 263 333 2.8e-10 PFAM
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.5%
  • 20x: 95.6%
Validation Efficiency 98% (47/48)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene contains a RING finger motif, which is most closely related to those of polycomb group (PcG) proteins RNF110/MEL-18 and BMI1. PcG proteins are known to form protein complexes and function as transcription repressors. This protein has been shown to interact with some PcG proteins and act as a transcription repressor. The activity of this protein is found to be regulated by cell cycle dependent phosphorylation. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adarb2 A T 13: 8,747,669 (GRCm39) K408N probably benign Het
Aoc2 A T 11: 101,220,102 (GRCm39) N696I probably damaging Het
Ap1g2 A T 14: 55,336,731 (GRCm39) I747N probably damaging Het
Arhgap27 T A 11: 103,224,663 (GRCm39) probably null Het
Bmp1 G T 14: 70,729,547 (GRCm39) N541K possibly damaging Het
Cacna1c T A 6: 118,728,485 (GRCm39) T320S probably benign Het
Ccr4 G T 9: 114,321,350 (GRCm39) N238K probably benign Het
Cd300e A C 11: 114,952,849 (GRCm39) M1R probably null Het
Cep95 A G 11: 106,700,013 (GRCm39) probably benign Het
Cfap54 T C 10: 92,834,918 (GRCm39) I1096V probably benign Het
D630003M21Rik A C 2: 158,037,392 (GRCm39) probably benign Het
Dmpk A G 7: 18,826,944 (GRCm39) T579A probably benign Het
Dock8 T C 19: 25,127,195 (GRCm39) Y1058H probably benign Het
Dscam T C 16: 96,479,710 (GRCm39) T1146A probably benign Het
Fnip2 T C 3: 79,474,901 (GRCm39) T4A probably damaging Het
Galnt12 A G 4: 47,104,264 (GRCm39) D174G probably damaging Het
Gxylt1 A G 15: 93,142,913 (GRCm39) I384T probably benign Het
Hmcn2 A G 2: 31,290,267 (GRCm39) N2367D probably damaging Het
Hydin A G 8: 110,994,005 (GRCm39) K13R unknown Het
Kcnh8 GAGACCAACGAGCAGCTGATGCTTCAGA GAGA 17: 53,032,934 (GRCm39) 74 probably benign Het
Kcns1 G A 2: 164,006,865 (GRCm39) A366V probably damaging Het
Kif5a A T 10: 127,081,310 (GRCm39) I208N probably damaging Het
Klrb1c G T 6: 128,761,702 (GRCm39) T134K possibly damaging Het
Med14 G A X: 12,550,330 (GRCm39) probably benign Het
Mgat4d T C 8: 84,081,450 (GRCm39) Y68H probably benign Het
Mmp11 C T 10: 75,762,948 (GRCm39) probably benign Het
Ncapg T A 5: 45,833,400 (GRCm39) D295E probably benign Het
Npas2 C T 1: 39,386,690 (GRCm39) T653M possibly damaging Het
Nps A G 7: 134,873,989 (GRCm39) D53G probably benign Het
Ociad1 A T 5: 73,467,688 (GRCm39) R155* probably null Het
Or5b101 G C 19: 13,005,411 (GRCm39) A94G probably benign Het
Pcdha2 A G 18: 37,073,145 (GRCm39) T259A probably damaging Het
Pced1a A G 2: 130,261,687 (GRCm39) M322T probably benign Het
Pigg C T 5: 108,462,014 (GRCm39) T115I probably damaging Het
Plcd4 G A 1: 74,590,313 (GRCm39) probably null Het
Prss52 G T 14: 64,350,992 (GRCm39) W259L probably damaging Het
Rasal2 A G 1: 156,986,225 (GRCm39) probably benign Het
Rec8 A G 14: 55,862,763 (GRCm39) E574G probably damaging Het
Sectm1a A G 11: 120,959,603 (GRCm39) I175T probably benign Het
Slc16a8 T C 15: 79,136,375 (GRCm39) I276V probably damaging Het
Slc8a3 C A 12: 81,361,766 (GRCm39) R351L probably damaging Het
Slc9b1 G A 3: 135,077,606 (GRCm39) G100E probably damaging Het
Smu1 T A 4: 40,754,529 (GRCm39) R123S possibly damaging Het
Synpr C T 14: 13,493,614 (GRCm38) A64V possibly damaging Het
Tmem132a C T 19: 10,836,901 (GRCm39) W680* probably null Het
Tpt1 G A 14: 76,083,840 (GRCm39) probably benign Het
Trav18 A G 14: 54,069,152 (GRCm39) T65A probably benign Het
Ttll4 T C 1: 74,736,770 (GRCm39) L1165P possibly damaging Het
Other mutations in Pcgf6
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02088:Pcgf6 APN 19 47,039,243 (GRCm39) missense unknown
IGL02228:Pcgf6 APN 19 47,036,421 (GRCm39) missense probably damaging 1.00
IGL02366:Pcgf6 APN 19 47,038,894 (GRCm39) missense possibly damaging 0.56
IGL03152:Pcgf6 APN 19 47,037,344 (GRCm39) splice site probably benign
R0220:Pcgf6 UTSW 19 47,028,529 (GRCm39) missense probably benign 0.26
R1651:Pcgf6 UTSW 19 47,037,441 (GRCm39) missense probably damaging 1.00
R1668:Pcgf6 UTSW 19 47,028,544 (GRCm39) missense probably damaging 1.00
R1711:Pcgf6 UTSW 19 47,038,957 (GRCm39) missense probably damaging 0.96
R4745:Pcgf6 UTSW 19 47,036,545 (GRCm39) critical splice donor site probably null
R5620:Pcgf6 UTSW 19 47,036,406 (GRCm39) missense probably damaging 1.00
R6450:Pcgf6 UTSW 19 47,037,527 (GRCm39) missense probably benign 0.00
R7073:Pcgf6 UTSW 19 47,031,226 (GRCm39) missense possibly damaging 0.56
R7100:Pcgf6 UTSW 19 47,039,153 (GRCm39) missense unknown
R8079:Pcgf6 UTSW 19 47,034,271 (GRCm39) missense probably damaging 1.00
R8347:Pcgf6 UTSW 19 47,034,277 (GRCm39) missense possibly damaging 0.86
R8745:Pcgf6 UTSW 19 47,039,159 (GRCm39) missense probably benign 0.23
R9079:Pcgf6 UTSW 19 47,039,053 (GRCm39) missense possibly damaging 0.49
R9430:Pcgf6 UTSW 19 47,039,219 (GRCm39) missense unknown
R9619:Pcgf6 UTSW 19 47,037,261 (GRCm39) missense possibly damaging 0.73
R9753:Pcgf6 UTSW 19 47,023,073 (GRCm39) missense probably damaging 0.97
Predicted Primers PCR Primer
(F):5'- GGTAACCCAGATGTGATCAGAG -3'
(R):5'- CACGCCTTTCTATTACAAAGTTTGTTG -3'

Sequencing Primer
(F):5'- CCCAGATGTGATCAGAGTTGGAG -3'
(R):5'- ATCTGCTCTATAAAATAGCTTGTACG -3'
Posted On 2015-02-05