Incidental Mutation 'R6450:Pcgf6'
ID 519386
Institutional Source Beutler Lab
Gene Symbol Pcgf6
Ensembl Gene ENSMUSG00000025050
Gene Name polycomb group ring finger 6
Synonyms 4933407A11Rik, Rnf134, Mel18 and Bmi1-like RING finger protein, MBLR
MMRRC Submission
Accession Numbers
Essential gene? Possibly essential (E-score: 0.524) question?
Stock # R6450 (G1)
Quality Score 225.009
Status Validated
Chromosome 19
Chromosomal Location 47033619-47050845 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) C to T at 47049088 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Arginine to Histidine at position 124 (R124H)
Ref Sequence ENSEMBL: ENSMUSP00000026032 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000026032]
AlphaFold Q99NA9
Predicted Effect probably benign
Transcript: ENSMUST00000026032
AA Change: R124H

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
SMART Domains Protein: ENSMUSP00000026032
Gene: ENSMUSG00000025050
AA Change: R124H

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: 100.0%
  • 3x: 99.8%
  • 10x: 98.5%
  • 20x: 95.1%
Validation Efficiency 97% (68/70)
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: 71 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca14 C G 7: 120,216,226 N232K probably benign Het
Acaca T A 11: 84,280,468 V5E probably damaging Het
Adam18 A T 8: 24,629,675 D529E probably benign Het
Adgrb3 T C 1: 25,420,602 T798A probably benign Het
Alyref T C 11: 120,596,046 T130A probably benign Het
Arhgap24 A G 5: 102,897,124 S591G probably benign Het
Carmil1 C T 13: 24,036,564 G655E probably damaging Het
Cdc42bpg T A 19: 6,314,488 probably null Het
Clec12a T A 6: 129,353,403 L48H probably damaging Het
Coq2 C A 5: 100,661,904 probably benign Het
Crb2 C A 2: 37,793,826 F1113L possibly damaging Het
Ctla4 A T 1: 60,912,713 M134L probably benign Het
Dnase1l1 C T X: 74,277,038 probably null Homo
Efhb A G 17: 53,452,604 V290A possibly damaging Het
Epha8 T C 4: 136,931,899 N843S probably damaging Het
Eva1a A T 6: 82,092,105 I138F probably damaging Het
Fat2 T A 11: 55,289,310 I1402F probably damaging Het
Fat3 A T 9: 15,999,170 H1845Q possibly damaging Het
Gimap8 T A 6: 48,656,451 F401L probably benign Het
Gm12394 C A 4: 42,792,489 G548W probably damaging Het
Gpr162 C T 6: 124,861,189 R166Q possibly damaging Het
Hdac4 G A 1: 91,984,711 P348S possibly damaging Het
Hist1h2ae A G 13: 23,570,945 V55A probably damaging Het
Hmcn2 T C 2: 31,361,800 V849A probably benign Het
Inpp5b T A 4: 124,792,252 N696K probably damaging Het
Kdm5d G T Y: 927,056 R598L probably damaging Homo
Kidins220 T C 12: 25,057,191 S1548P probably benign Het
Kif2b C A 11: 91,576,366 V364L probably damaging Het
Kitl A G 10: 100,087,394 M1V probably null Het
Klra9 G T 6: 130,179,032 Y253* probably null Het
Map6 T C 7: 99,268,038 I6T probably damaging Het
Mastl T C 2: 23,120,929 T768A probably damaging Het
Mettl16 T C 11: 74,805,338 V335A probably benign Het
Mpl T C 4: 118,448,700 probably null Het
Myo5c C T 9: 75,286,578 T1205I probably benign Het
Nav2 C A 7: 49,594,366 L2114I probably damaging Het
Neb T A 2: 52,194,469 K5330* probably null Het
Nfe2l1 C T 11: 96,827,335 E125K possibly damaging Het
Olfr1317 T A 2: 112,142,380 L145* probably null Het
Onecut3 A G 10: 80,496,088 K361E probably damaging Het
Osbpl6 A G 2: 76,564,830 N370S possibly damaging Het
Otud4 T A 8: 79,672,997 M780K probably benign Het
P2rx4 A G 5: 122,727,241 T310A possibly damaging Het
Pcdha11 G T 18: 37,013,162 D769Y probably damaging Het
Pibf1 T A 14: 99,137,210 Y362N probably damaging Het
Ppm1g T C 5: 31,203,124 E422G probably benign Het
Prmt8 T C 6: 127,732,643 I85V possibly damaging Het
Prss27 A T 17: 24,045,014 K225* probably null Het
Rai1 A T 11: 60,186,603 T498S probably benign Het
Sbf2 C A 7: 110,462,863 G23V probably damaging Het
Sdha C T 13: 74,334,293 probably null Het
Sgo2a C T 1: 58,002,933 Q140* probably null Het
Sh3rf3 A G 10: 58,984,144 D259G probably damaging Het
Slc27a3 C A 3: 90,385,470 D631Y probably damaging Het
Slc7a10 T C 7: 35,186,590 S37P possibly damaging Het
Slco6d1 A G 1: 98,421,467 T88A probably benign Het
Smad4 A T 18: 73,677,746 S56T possibly damaging Het
Smarcd1 A G 15: 99,707,885 I346V possibly damaging Het
Spast C T 17: 74,368,840 P260S probably benign Het
Sprr2i A T 3: 92,408,710 probably benign Het
Sptbn5 A G 2: 120,047,135 probably benign Het
Taar9 A T 10: 24,109,240 Y99N probably damaging Het
Trappc10 A T 10: 78,209,450 M468K possibly damaging Het
Trim66 T C 7: 109,460,738 R814G probably benign Het
Tspan31 A G 10: 127,068,358 C157R probably damaging Het
Vmn2r90 A G 17: 17,733,236 D554G possibly damaging Het
Vmn2r91 A T 17: 18,085,265 D70V probably damaging Het
Wdfy4 C T 14: 33,108,692 G928R probably damaging Het
Wdr60 A T 12: 116,246,727 Y314* probably null Het
Zfp346 G T 13: 55,113,704 K102N probably damaging Het
Zmym4 G A 4: 126,895,306 P1002S probably damaging Het
Other mutations in Pcgf6
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02088:Pcgf6 APN 19 47050804 missense unknown
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
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
R8745:Pcgf6 UTSW 19 47050720 missense probably benign 0.23
R9079:Pcgf6 UTSW 19 47050614 missense possibly damaging 0.49
R9430:Pcgf6 UTSW 19 47050780 missense unknown
R9619:Pcgf6 UTSW 19 47048822 missense possibly damaging 0.73
R9753:Pcgf6 UTSW 19 47034634 missense probably damaging 0.97
Predicted Primers PCR Primer
(F):5'- AATGCAGCTTTTACAAACTAGTGA -3'
(R):5'- ATGAGACCTTGTAGTGTTGGCTT -3'

Sequencing Primer
(F):5'- GCAGCTTTTACAAACTAGTGAAAGAG -3'
(R):5'- AGTCCCTTTTATAGTGGGCCAAAC -3'
Posted On 2018-05-24