Incidental Mutation 'IGL02088:Pcgf6'
ID279309
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Pcgf6
Ensembl Gene ENSMUSG00000025050
Gene Namepolycomb group ring finger 6
Synonyms4933407A11Rik, Rnf134, Mel18 and Bmi1-like RING finger protein, MBLR
Accession Numbers
Is this an essential gene? Possibly non essential (E-score: 0.383) question?
Stock #IGL02088
Quality Score
Status
Chromosome19
Chromosomal Location47033619-47050845 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 47050804 bp
ZygosityHeterozygous
Amino Acid Change Threonine to Alanine at position 6 (T6A)
Ref Sequence ENSEMBL: ENSMUSP00000026032 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000026032]
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: 104,098,881 E289G probably damaging Het
Aldh1l1 A T 6: 90,580,590 probably benign Het
Ampd3 T A 7: 110,793,686 D220E probably benign Het
Ank3 T C 10: 69,999,373 V136A probably damaging Het
Atg14 T C 14: 47,542,859 K486R probably benign Het
Axin1 A G 17: 26,188,695 I637V probably benign Het
Axin2 T A 11: 108,923,616 F110Y probably damaging Het
Cdh12 A T 15: 21,480,339 K214* probably null Het
Cfap44 A C 16: 44,451,628 E1248A possibly damaging Het
Cryba4 A G 5: 112,251,009 probably benign Het
Cyp2c68 A G 19: 39,703,521 probably benign Het
Dnah5 G T 15: 28,459,118 probably null Het
Dok3 A T 13: 55,524,370 V165E probably damaging Het
Etl4 A T 2: 20,806,548 R1147S probably damaging Het
Fam212a A G 9: 107,984,457 F220S probably damaging Het
Fbxl6 G T 15: 76,535,906 C502* probably null Het
Gp2 A T 7: 119,454,469 Y90N probably damaging Het
H1fnt G T 15: 98,257,178 T30K probably damaging Het
Itfg2 A G 6: 128,411,606 V306A probably benign Het
Lrig2 T C 3: 104,467,108 Y219C probably damaging Het
Mccc1 A T 3: 35,974,202 I485N probably damaging Het
Mettl25 A G 10: 105,823,250 F391L probably damaging Het
Muc19 C T 15: 91,891,168 noncoding transcript Het
Muc2 T C 7: 141,751,504 C182R probably damaging Het
Nlrp4g T C 9: 124,350,453 noncoding transcript Het
Nms A G 1: 38,939,277 probably benign Het
Nr3c1 T C 18: 39,424,391 N503S probably damaging Het
Olfr1495 T C 19: 13,768,666 F108S probably damaging Het
Olfr186 A G 16: 59,027,052 L285P probably damaging Het
Olfr828 C T 9: 18,815,923 V124I probably benign Het
Pcdhb5 G A 18: 37,321,959 S464N probably benign Het
Rdx A G 9: 52,060,883 probably benign Het
Shmt1 T C 11: 60,789,653 T403A probably damaging Het
Slc35d1 A G 4: 103,211,325 F148L probably benign Het
Tk1 A G 11: 117,824,665 probably benign Het
Tnks T A 8: 34,839,994 I1134F possibly damaging Het
Ttn A G 2: 76,726,691 V29990A probably damaging Het
Zcchc11 A G 4: 108,512,218 probably benign Het
Other mutations in Pcgf6
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02228:Pcgf6 APN 19 47047982 missense probably damaging 1.00
IGL02366:Pcgf6 APN 19 47050455 missense possibly damaging 0.56
IGL03152:Pcgf6 APN 19 47048905 splice site probably benign
R0220:Pcgf6 UTSW 19 47040090 missense probably benign 0.26
R1651:Pcgf6 UTSW 19 47049002 missense probably damaging 1.00
R1668:Pcgf6 UTSW 19 47040105 missense probably damaging 1.00
R1711:Pcgf6 UTSW 19 47050518 missense probably damaging 0.96
R3157:Pcgf6 UTSW 19 47040036 splice site probably benign
R4745:Pcgf6 UTSW 19 47048106 critical splice donor site probably null
R5620:Pcgf6 UTSW 19 47047967 missense probably damaging 1.00
R6450:Pcgf6 UTSW 19 47049088 missense probably benign 0.00
R7073:Pcgf6 UTSW 19 47042787 missense possibly damaging 0.56
R7100:Pcgf6 UTSW 19 47050714 missense unknown
R8079:Pcgf6 UTSW 19 47045832 missense probably damaging 1.00
R8347:Pcgf6 UTSW 19 47045838 missense possibly damaging 0.86
Posted On2015-04-16