Incidental Mutation 'R8398:Pcgf3'
ID 647710
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 067761-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.280) question?
Stock # R8398 (G1)
Quality Score 225.009
Status Not validated
Chromosome 5
Chromosomal Location 108609098-108654842 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 108647509 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Serine at position 205 (N205S)
Ref Sequence ENSEMBL: ENSMUSP00000041790 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000046975]
AlphaFold Q8BTQ0
Predicted Effect probably damaging
Transcript: ENSMUST00000046975
AA Change: N205S

PolyPhen 2 Score 0.965 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000041790
Gene: ENSMUSG00000033623
AA Change: N205S

DomainStartEndE-ValueType
RING 17 55 2.87e-5 SMART
Pfam:RAWUL 158 235 2e-20 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.8%
  • 20x: 99.3%
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 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: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrv1 T C 13: 81,330,797 (GRCm39) D6086G probably damaging Het
Amh T C 10: 80,641,394 (GRCm39) S105P probably benign Het
Arap2 A T 5: 62,906,252 (GRCm39) Y256N probably damaging Het
Asap3 G A 4: 135,961,704 (GRCm39) M271I probably benign Het
Bbof1 T C 12: 84,475,188 (GRCm39) L459P probably damaging Het
Ccl21a T C 4: 42,773,412 (GRCm39) T109A probably benign Het
Cnot6 C T 11: 49,593,445 (GRCm39) R12Q probably damaging Het
D5Ertd579e G A 5: 36,771,621 (GRCm39) Q925* probably null Het
Dbh G A 2: 27,064,910 (GRCm39) V374M probably damaging Het
Dvl2 T A 11: 69,899,128 (GRCm39) L462Q probably damaging Het
Fchsd1 G A 18: 38,099,577 (GRCm39) R206C probably damaging Het
Gjd4 C T 18: 9,280,326 (GRCm39) V251M possibly damaging Het
Glud1 A G 14: 34,033,228 (GRCm39) D125G probably benign Het
Gm10428 T C 11: 62,644,173 (GRCm39) I83T unknown Het
Gm10985 A C 3: 53,752,674 (GRCm39) Y19S probably damaging Het
Gm3045 A G 13: 56,577,280 (GRCm39) T143A possibly damaging Het
Heatr6 A C 11: 83,672,164 (GRCm39) E1057D probably benign Het
Hoxa9 T C 6: 52,201,403 (GRCm39) T213A probably damaging Het
Hsd3b5 T A 3: 98,526,720 (GRCm39) D242V possibly damaging Het
Lama5 A G 2: 179,838,827 (GRCm39) probably null Het
Lrp1b C T 2: 40,591,819 (GRCm39) C3827Y Het
Mast2 A T 4: 116,165,946 (GRCm39) S1261T probably damaging Het
Mex3b T A 7: 82,518,842 (GRCm39) F386I probably benign Het
Mta1 T A 12: 113,095,242 (GRCm39) M465K possibly damaging Het
Mtmr12 T A 15: 12,265,695 (GRCm39) F470L probably damaging Het
Myot A G 18: 44,487,883 (GRCm39) N400S probably benign Het
Ndnf T C 6: 65,681,362 (GRCm39) V547A probably damaging Het
Noc3l A T 19: 38,783,554 (GRCm39) D607E probably benign Het
Or5w14 A G 2: 87,542,175 (GRCm39) V25A probably benign Het
Pcdha11 G A 18: 37,146,116 (GRCm39) G736R possibly damaging Het
Pkd1l3 C T 8: 110,350,520 (GRCm39) P455L possibly damaging Het
Psg27 T C 7: 18,295,837 (GRCm39) T203A probably benign Het
Ptch1 T C 13: 63,672,939 (GRCm39) T889A probably benign Het
Sars1 C T 3: 108,335,489 (GRCm39) probably null Het
Scrn2 G T 11: 96,921,730 (GRCm39) V67L probably benign Het
Slc1a4 T C 11: 20,257,982 (GRCm39) D380G probably damaging Het
Slc9a1 A T 4: 133,146,814 (GRCm39) Q516L probably benign Het
Smc4 T C 3: 68,933,184 (GRCm39) Y627H probably damaging Het
Spon2 G T 5: 33,374,154 (GRCm39) H76Q probably damaging Het
Sppl2b TGTCACAGGT TGT 10: 80,701,903 (GRCm39) probably null Het
Sppl2b CTGTCACA C 10: 80,701,902 (GRCm39) probably null Het
Sugp1 A G 8: 70,523,783 (GRCm39) Y550C probably damaging Het
Sun1 A G 5: 139,222,408 (GRCm39) D558G probably damaging Het
Syne1 T C 10: 5,074,923 (GRCm39) E1134G probably damaging Het
Thbd C T 2: 148,248,600 (GRCm39) V423I probably benign Het
V1rd19 C A 7: 23,703,374 (GRCm39) S280* probably null Het
Zfp947 A T 17: 22,365,102 (GRCm39) C191S probably benign 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
R8152:Pcgf3 UTSW 5 108,635,723 (GRCm39) missense probably benign
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'- ACTGCCTTTGACCTCTGAAG -3'
(R):5'- ATCCAGAAAGACAGCTGTTCC -3'

Sequencing Primer
(F):5'- CCTTTGACCTCTGAAGAAATTTTGGG -3'
(R):5'- CTGTTCCACAGCAATGTCTG -3'
Posted On 2020-09-02