Incidental Mutation 'IGL02088:Pcgf6'
ID 279309
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 # IGL02088
Quality Score
Status
Chromosome 19
Chromosomal Location 47022056-47039345 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 47039243 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 6 (T6A)
Ref Sequence ENSEMBL: ENSMUSP00000026032 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000026032]
AlphaFold Q99NA9
Predicted Effect unknown
Transcript: ENSMUST00000026032
AA Change: T6A
SMART Domains Protein: ENSMUSP00000026032
Gene: ENSMUSG00000025050
AA Change: T6A

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: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ackr4 T C 9: 103,976,080 (GRCm39) E289G probably damaging Het
Aldh1l1 A T 6: 90,557,572 (GRCm39) probably benign Het
Ampd3 T A 7: 110,392,893 (GRCm39) D220E probably benign Het
Ank3 T C 10: 69,835,203 (GRCm39) V136A probably damaging Het
Atg14 T C 14: 47,780,316 (GRCm39) K486R probably benign Het
Axin1 A G 17: 26,407,669 (GRCm39) I637V probably benign Het
Axin2 T A 11: 108,814,442 (GRCm39) F110Y probably damaging Het
Cdh12 A T 15: 21,480,425 (GRCm39) K214* probably null Het
Cfap44 A C 16: 44,271,991 (GRCm39) E1248A possibly damaging Het
Cryba4 A G 5: 112,398,875 (GRCm39) probably benign Het
Cyp2c68 A G 19: 39,691,965 (GRCm39) probably benign Het
Dnah5 G T 15: 28,459,264 (GRCm39) probably null Het
Dok3 A T 13: 55,672,183 (GRCm39) V165E probably damaging Het
Etl4 A T 2: 20,811,359 (GRCm39) R1147S probably damaging Het
Fbxl6 G T 15: 76,420,106 (GRCm39) C502* probably null Het
Gp2 A T 7: 119,053,692 (GRCm39) Y90N probably damaging Het
H1f7 G T 15: 98,155,059 (GRCm39) T30K probably damaging Het
Inka1 A G 9: 107,861,656 (GRCm39) F220S probably damaging Het
Itfg2 A G 6: 128,388,569 (GRCm39) V306A probably benign Het
Lrig2 T C 3: 104,374,424 (GRCm39) Y219C probably damaging Het
Mccc1 A T 3: 36,028,351 (GRCm39) I485N probably damaging Het
Mettl25 A G 10: 105,659,111 (GRCm39) F391L probably damaging Het
Muc19 C T 15: 91,775,362 (GRCm39) noncoding transcript Het
Muc2 T C 7: 141,305,241 (GRCm39) C182R probably damaging Het
Nlrp4g T C 9: 124,350,453 (GRCm38) noncoding transcript Het
Nms A G 1: 38,978,358 (GRCm39) probably benign Het
Nr3c1 T C 18: 39,557,444 (GRCm39) N503S probably damaging Het
Or10q12 T C 19: 13,746,030 (GRCm39) F108S probably damaging Het
Or5h18 A G 16: 58,847,415 (GRCm39) L285P probably damaging Het
Or7g16 C T 9: 18,727,219 (GRCm39) V124I probably benign Het
Pcdhb5 G A 18: 37,455,012 (GRCm39) S464N probably benign Het
Rdx A G 9: 51,972,183 (GRCm39) probably benign Het
Shmt1 T C 11: 60,680,479 (GRCm39) T403A probably damaging Het
Slc35d1 A G 4: 103,068,522 (GRCm39) F148L probably benign Het
Tk1 A G 11: 117,715,491 (GRCm39) probably benign Het
Tnks T A 8: 35,307,148 (GRCm39) I1134F possibly damaging Het
Ttn A G 2: 76,557,035 (GRCm39) V29990A probably damaging Het
Tut4 A G 4: 108,369,415 (GRCm39) probably benign Het
Other mutations in Pcgf6
AlleleSourceChrCoordTypePredicted EffectPPH Score
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
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