Incidental Mutation 'R8152:Pcgf3'
ID 633006
Institutional Source Beutler Lab
Gene Symbol Pcgf3
Ensembl Gene ENSMUSG00000033623
Gene Name polycomb group ring finger 3
Synonyms DONG1, D630042K08Rik, Rnf3, 2310035N15Rik, RNF3A
MMRRC Submission 067578-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.280) question?
Stock # R8152 (G1)
Quality Score 225.009
Status Validated
Chromosome 5
Chromosomal Location 108609098-108654842 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 108635723 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Isoleucine at position 131 (N131I)
Ref Sequence ENSEMBL: ENSMUSP00000041790 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000046975] [ENSMUST00000112597] [ENSMUST00000138264]
AlphaFold Q8BTQ0
Predicted Effect probably benign
Transcript: ENSMUST00000046975
AA Change: N131I

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000041790
Gene: ENSMUSG00000033623
AA Change: N131I

DomainStartEndE-ValueType
RING 17 55 2.87e-5 SMART
Pfam:RAWUL 158 235 2e-20 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000112597
AA Change: N131I

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
SMART Domains Protein: ENSMUSP00000108216
Gene: ENSMUSG00000033623
AA Change: N131I

DomainStartEndE-ValueType
RING 17 55 2.87e-5 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000138264
SMART Domains Protein: ENSMUSP00000142465
Gene: ENSMUSG00000033623

DomainStartEndE-ValueType
PDB:2CKL|A 3 37 7e-9 PDB
SCOP:d1jm7b_ 5 37 4e-3 SMART
Blast:RING 17 37 1e-6 BLAST
Meta Mutation Damage Score 0.0846 question?
Coding Region Coverage
  • 1x: 99.8%
  • 3x: 99.6%
  • 10x: 98.3%
  • 20x: 92.4%
Validation Efficiency 99% (74/75)
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 C3HC4 type RING finger, which is a motif known to be involved in protein-protein interactions. The specific function of this protein has not yet been determined. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a transgenic gene disruption exhibit limb defects and spleen agenesis. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 71 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aasdh A G 5: 77,044,305 (GRCm39) L195P probably damaging Het
Adgrb1 T C 15: 74,413,460 (GRCm39) V548A probably benign Het
Adgrb1 T C 15: 74,416,849 (GRCm39) I752T probably damaging Het
Adgrb3 T C 1: 25,260,838 (GRCm39) probably null Het
Adh6a G T 3: 138,033,275 (GRCm39) probably null Het
Aldh18a1 A G 19: 40,553,456 (GRCm39) S431P probably benign Het
Arap3 T C 18: 38,124,410 (GRCm39) R310G possibly damaging Het
Atad5 T C 11: 79,985,996 (GRCm39) V361A possibly damaging Het
Atp8a1 C A 5: 67,919,925 (GRCm39) M380I Het
Calcrl C T 2: 84,169,593 (GRCm39) V363M possibly damaging Het
Camsap1 G T 2: 25,830,253 (GRCm39) D490E probably damaging Het
Cd72 T A 4: 43,452,601 (GRCm39) I131F possibly damaging Het
Cdh2 C T 18: 16,762,576 (GRCm39) G513D probably benign Het
Cela1 T C 15: 100,580,822 (GRCm39) T145A probably benign Het
Cep250 A G 2: 155,811,227 (GRCm39) T358A probably benign Het
Cfap99 C T 5: 34,480,735 (GRCm39) R462C probably damaging Het
Cmtm1 A G 8: 105,036,573 (GRCm39) S19P possibly damaging Het
Crebbp A T 16: 3,902,945 (GRCm39) M2098K possibly damaging Het
Csmd3 T C 15: 47,532,860 (GRCm39) probably null Het
Ctsm C G 13: 61,687,463 (GRCm39) V100L probably benign Het
Cyp2c67 C A 19: 39,628,452 (GRCm39) C164F probably benign Het
Cyp2d11 T C 15: 82,276,688 (GRCm39) I84V probably benign Het
Cyp2j11 T C 4: 96,195,529 (GRCm39) D389G probably damaging Het
Dctd A G 8: 48,564,725 (GRCm39) D9G probably benign Het
Fam221a C A 6: 49,355,490 (GRCm39) F197L probably damaging Het
Fbxl4 T G 4: 22,427,225 (GRCm39) C489G possibly damaging Het
Fmn1 C T 2: 113,196,037 (GRCm39) T579M unknown Het
Fndc3a G A 14: 72,811,820 (GRCm39) L337F probably damaging Het
Frmpd2 A G 14: 33,265,244 (GRCm39) probably null Het
Gdnf C T 15: 7,864,243 (GRCm39) S218L probably damaging Het
Gen1 A G 12: 11,293,266 (GRCm39) F444L probably damaging Het
Gk5 A T 9: 96,056,756 (GRCm39) D391V probably damaging Het
Gys2 T C 6: 142,373,136 (GRCm39) T612A probably benign Het
Il17ra A G 6: 120,459,063 (GRCm39) D738G probably benign Het
Isx T C 8: 75,616,627 (GRCm39) F85L probably damaging Het
Kcnh5 T C 12: 74,944,633 (GRCm39) D872G possibly damaging Het
Kif26b T G 1: 178,506,794 (GRCm39) V290G possibly damaging Het
Ksr2 T C 5: 117,809,523 (GRCm39) C429R probably damaging Het
Loxhd1 A C 18: 77,476,095 (GRCm39) I1121L possibly damaging Het
Map2 T C 1: 66,453,902 (GRCm39) F931L probably benign Het
Mepce T C 5: 137,782,935 (GRCm39) I464V probably benign Het
Mpo G T 11: 87,692,475 (GRCm39) V538L probably benign Het
Mtarc2 T A 1: 184,573,509 (GRCm39) M130L possibly damaging Het
Mtrex T A 13: 113,009,517 (GRCm39) K961* probably null Het
Myom1 T C 17: 71,391,290 (GRCm39) V933A probably damaging Het
Nckap1l T G 15: 103,386,957 (GRCm39) probably null Het
Ncmap C A 4: 135,104,375 (GRCm39) M19I possibly damaging Het
Neb T A 2: 52,073,848 (GRCm39) I5920F probably benign Het
Nnt C T 13: 119,511,212 (GRCm39) V355I probably benign Het
Nr1i2 C T 16: 38,073,326 (GRCm39) G217S probably damaging Het
Nsd1 A G 13: 55,458,180 (GRCm39) R2098G possibly damaging Het
Parp4 A G 14: 56,884,703 (GRCm39) T1261A probably benign Het
Plcb2 C T 2: 118,541,302 (GRCm39) D1012N probably benign Het
Plcl2 T C 17: 50,914,689 (GRCm39) I566T probably damaging Het
Plekha1 G A 7: 130,510,102 (GRCm39) A283T probably damaging Het
Prag1 A T 8: 36,567,079 (GRCm39) M77L possibly damaging Het
Rhbdl2 A T 4: 123,718,711 (GRCm39) I222L probably benign Het
Rnh1 A C 7: 140,740,617 (GRCm39) V446G probably damaging Het
Sash1 C T 10: 8,626,805 (GRCm39) R193H possibly damaging Het
Sgf29 G T 7: 126,271,826 (GRCm39) V284L possibly damaging Het
Slc12a3 G A 8: 95,057,012 (GRCm39) G95D probably benign Het
Slc17a7 T C 7: 44,819,714 (GRCm39) V172A probably damaging Het
Spta1 T C 1: 174,045,510 (GRCm39) V1556A probably benign Het
Tex15 G A 8: 34,062,921 (GRCm39) E784K possibly damaging Het
Ttn T C 2: 76,673,132 (GRCm39) E11224G unknown Het
Wipf1 G A 2: 73,267,879 (GRCm39) P173L possibly damaging Het
Zdbf2 C T 1: 63,345,572 (GRCm39) T1317I possibly damaging Het
Zfat C T 15: 67,973,355 (GRCm39) A1147T probably benign Het
Zfp217 G A 2: 169,961,571 (GRCm39) S252F possibly damaging Het
Zhx3 T G 2: 160,622,695 (GRCm39) I491L probably benign Het
Zranb3 T C 1: 127,882,732 (GRCm39) D1061G probably damaging Het
Other mutations in Pcgf3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01916:Pcgf3 APN 5 108,634,045 (GRCm39) missense probably benign 0.18
R0501:Pcgf3 UTSW 5 108,622,978 (GRCm39) missense probably damaging 1.00
R1192:Pcgf3 UTSW 5 108,634,054 (GRCm39) missense probably benign
R4947:Pcgf3 UTSW 5 108,635,827 (GRCm39) missense probably benign 0.03
R6560:Pcgf3 UTSW 5 108,621,768 (GRCm39) missense probably damaging 1.00
R8087:Pcgf3 UTSW 5 108,634,102 (GRCm39) missense probably benign
R8398:Pcgf3 UTSW 5 108,647,509 (GRCm39) missense probably damaging 0.96
R8708:Pcgf3 UTSW 5 108,634,063 (GRCm39) missense probably benign 0.00
R8755:Pcgf3 UTSW 5 108,634,108 (GRCm39) missense probably benign 0.00
R9697:Pcgf3 UTSW 5 108,621,773 (GRCm39) critical splice donor site probably null
Predicted Primers PCR Primer
(F):5'- CTTCCCCATTTCAGAAAAGTTGC -3'
(R):5'- TCTGTCCACAAGGTTTGAAATG -3'

Sequencing Primer
(F):5'- CAGTTTCCACTTATACCTCA -3'
(R):5'- GGTTTGAAATGTTTTACAGTCAGC -3'
Posted On 2020-06-30