Incidental Mutation 'IGL02366:Pcgf6'
ID 290739
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Pcgf6
Ensembl Gene ENSMUSG00000025050
Gene Name polycomb group ring finger 6
Synonyms Rnf134, Mel18 and Bmi1-like RING finger protein, MBLR, 4933407A11Rik
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.458) question?
Stock # IGL02366
Quality Score
Status
Chromosome 19
Chromosomal Location 47022056-47039345 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 47038894 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 122 (E122G)
Ref Sequence ENSEMBL: ENSMUSP00000026032 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000026032]
AlphaFold Q99NA9
Predicted Effect possibly damaging
Transcript: ENSMUST00000026032
AA Change: E122G

PolyPhen 2 Score 0.565 (Sensitivity: 0.88; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000026032
Gene: ENSMUSG00000025050
AA Change: E122G

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
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 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
6030458C11Rik T A 15: 12,810,859 (GRCm39) H339L probably benign Het
Abcc1 T C 16: 14,285,843 (GRCm39) probably benign Het
Ankrd55 T C 13: 112,454,994 (GRCm39) Y3H probably damaging Het
Armcx4 A C X: 133,592,261 (GRCm39) K723T possibly damaging Het
Brinp3 T A 1: 146,577,481 (GRCm39) V172D possibly damaging Het
Cemip C T 7: 83,592,849 (GRCm39) R1226Q probably benign Het
Cntn5 A T 9: 9,984,060 (GRCm39) probably benign Het
Cyld T C 8: 89,456,381 (GRCm39) V474A probably damaging Het
Dhx40 T C 11: 86,667,528 (GRCm39) E537G probably damaging Het
Efhc1 A G 1: 21,030,486 (GRCm39) N140D probably damaging Het
Eif6 A G 2: 155,668,092 (GRCm39) V49A probably benign Het
Epha4 G T 1: 77,403,348 (GRCm39) Y386* probably null Het
Ggnbp2 T C 11: 84,732,427 (GRCm39) K222R probably damaging Het
Gm5117 T C 8: 32,227,887 (GRCm39) noncoding transcript Het
Gm5852 A T 3: 93,634,568 (GRCm39) noncoding transcript Het
Hadha A G 5: 30,340,048 (GRCm39) V243A probably benign Het
Hal A G 10: 93,339,390 (GRCm39) N493S probably damaging Het
Insrr A G 3: 87,717,216 (GRCm39) T731A possibly damaging Het
Irs4 A T X: 140,506,900 (GRCm39) L432H probably damaging Het
Kdm4a T G 4: 118,017,703 (GRCm39) probably null Het
Lhx4 T C 1: 155,580,934 (GRCm39) D197G possibly damaging Het
Mllt10 T A 2: 18,069,898 (GRCm39) M18K probably damaging Het
Nars1 T C 18: 64,636,599 (GRCm39) T422A possibly damaging Het
Ncf2 A G 1: 152,710,824 (GRCm39) D445G probably benign Het
Ndor1 C A 2: 25,137,993 (GRCm39) G544V possibly damaging Het
Notch3 C A 17: 32,363,179 (GRCm39) R1268L probably benign Het
Or51ac3 A T 7: 103,213,622 (GRCm39) V288D probably damaging Het
Or5b117 T C 19: 13,431,491 (GRCm39) Y130C probably damaging Het
Or6c202 A T 10: 128,996,494 (GRCm39) Y120N probably damaging Het
Or8g2 T C 9: 39,821,288 (GRCm39) L63P probably damaging Het
Osgep T C 14: 51,157,407 (GRCm39) D72G probably damaging Het
Pank4 C T 4: 155,054,085 (GRCm39) T88I probably benign Het
Ppp1r21 A G 17: 88,855,090 (GRCm39) H123R probably damaging Het
Prex1 A C 2: 166,422,347 (GRCm39) L28R probably damaging Het
Rbl1 A T 2: 157,016,813 (GRCm39) N595K probably benign Het
Rnf148 T C 6: 23,654,058 (GRCm39) I313V probably benign Het
Rnf220 T C 4: 117,346,980 (GRCm39) N144S probably benign Het
Sbno2 G A 10: 79,900,036 (GRCm39) T577I probably damaging Het
Sez6 T C 11: 77,867,708 (GRCm39) I875T probably damaging Het
Slco1a5 A T 6: 142,195,941 (GRCm39) V354D possibly damaging Het
Slit2 A T 5: 48,461,410 (GRCm39) T1486S possibly damaging Het
Snd1 T C 6: 28,707,149 (GRCm39) probably benign Het
Sval3 T C 6: 41,946,659 (GRCm39) probably benign Het
Tmem94 T C 11: 115,688,258 (GRCm39) L1239P probably damaging Het
Trpm6 T C 19: 18,755,874 (GRCm39) probably benign Het
Ttc9 A C 12: 81,678,384 (GRCm39) D69A possibly damaging Het
Ttn A T 2: 76,593,580 (GRCm39) L20687M probably benign Het
Zfp748 T A 13: 67,693,546 (GRCm39) probably benign 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
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
R3157:Pcgf6 UTSW 19 47,028,475 (GRCm39) splice site probably benign
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
Posted On 2015-04-16