Incidental Mutation 'R0501:Pcgf3'
ID 47109
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 038696-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.280) question?
Stock # R0501 (G1)
Quality Score 82
Status Not validated
Chromosome 5
Chromosomal Location 108609098-108654842 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 108622978 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Cysteine to Serine at position 38 (C38S)
Ref Sequence ENSEMBL: ENSMUSP00000108216 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000046975] [ENSMUST00000112597] [ENSMUST00000138264]
AlphaFold Q8BTQ0
Predicted Effect probably damaging
Transcript: ENSMUST00000046975
AA Change: C38S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000041790
Gene: ENSMUSG00000033623
AA Change: C38S

DomainStartEndE-ValueType
RING 17 55 2.87e-5 SMART
Pfam:RAWUL 158 235 2e-20 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000112597
AA Change: C38S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000108216
Gene: ENSMUSG00000033623
AA Change: C38S

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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000143973
Coding Region Coverage
  • 1x: 99.7%
  • 3x: 98.9%
  • 10x: 97.0%
  • 20x: 94.2%
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: 84 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700030K09Rik T C 8: 73,209,216 (GRCm39) S415P probably benign Het
Adam19 C T 11: 46,013,957 (GRCm39) P316S probably damaging Het
Adamts2 A G 11: 50,558,972 (GRCm39) D229G probably benign Het
Adcy10 C T 1: 165,337,959 (GRCm39) P191L probably damaging Het
Adgrv1 T C 13: 81,707,269 (GRCm39) Y1379C probably damaging Het
Akap9 T C 5: 4,020,685 (GRCm39) L1132P probably damaging Het
Aoah A G 13: 21,189,243 (GRCm39) T489A probably benign Het
Apc2 T C 10: 80,150,958 (GRCm39) L1975P probably damaging Het
Bpifa5 A T 2: 154,005,616 (GRCm39) D66V probably benign Het
C230029F24Rik T C 1: 49,374,629 (GRCm39) noncoding transcript Het
Cacna1h A T 17: 25,607,641 (GRCm39) V892E probably damaging Het
Car4 G A 11: 84,854,268 (GRCm39) V72I probably benign Het
Cfap91 C G 16: 38,155,997 (GRCm39) M75I probably damaging Het
Chst3 A G 10: 60,022,049 (GRCm39) L266P probably damaging Het
Ckap2l G A 2: 129,127,411 (GRCm39) R256W possibly damaging Het
Cntn4 A T 6: 106,595,296 (GRCm39) D471V probably damaging Het
Cntrob G A 11: 69,213,694 (GRCm39) S32F probably damaging Het
Cpne7 T A 8: 123,852,994 (GRCm39) N200K possibly damaging Het
Creb3l3 C A 10: 80,922,416 (GRCm39) M271I probably benign Het
Csmd1 T A 8: 17,077,339 (GRCm39) Q106L probably damaging Het
D7Ertd443e G A 7: 133,896,701 (GRCm39) T563I probably damaging Het
Dmac1 T G 4: 75,196,413 (GRCm39) N26H unknown Het
Dop1b T C 16: 93,549,750 (GRCm39) F230L probably benign Het
Dpp6 T A 5: 27,930,604 (GRCm39) I812N probably damaging Het
Fabp12 T C 3: 10,315,203 (GRCm39) D48G probably benign Het
Fbn1 G A 2: 125,143,669 (GRCm39) T2820M probably benign Het
Fcho1 C T 8: 72,165,204 (GRCm39) A418T probably benign Het
Fcho2 A T 13: 98,901,023 (GRCm39) S277R possibly damaging Het
Fmo2 A G 1: 162,704,497 (GRCm39) S470P probably benign Het
Gm17541 T G 12: 4,739,730 (GRCm39) probably benign Het
Gm4353 A T 7: 115,682,706 (GRCm39) Y292N probably benign Het
Igkv4-71 A T 6: 69,220,290 (GRCm39) I69N probably damaging Het
Insrr G T 3: 87,717,991 (GRCm39) A871S probably benign Het
Irs2 C T 8: 11,056,396 (GRCm39) V679M probably damaging Het
Itpr3 T A 17: 27,326,263 (GRCm39) H1344Q probably benign Het
Kcnma1 T C 14: 23,361,784 (GRCm39) M1074V possibly damaging Het
Kif1a G A 1: 92,983,967 (GRCm39) R602W probably damaging Het
Kif21b A T 1: 136,090,837 (GRCm39) D1215V probably benign Het
Mapk13 G A 17: 28,995,327 (GRCm39) V183M probably damaging Het
Mbp C T 18: 82,593,322 (GRCm39) S100F probably damaging Het
Mcm6 A G 1: 128,283,373 (GRCm39) I44T probably benign Het
Ncor1 T A 11: 62,264,148 (GRCm39) D418V possibly damaging Het
Nid2 T A 14: 19,839,736 (GRCm39) probably null Het
Nolc1 T C 19: 46,067,359 (GRCm39) V80A probably damaging Het
Or10a5 A T 7: 106,635,439 (GRCm39) T26S probably benign Het
Or10ak14 C A 4: 118,611,027 (GRCm39) C238F probably benign Het
Or12e9 A T 2: 87,201,896 (GRCm39) R7W probably damaging Het
Or13e8 A C 4: 43,697,079 (GRCm39) C31W probably damaging Het
Or1j1 A T 2: 36,702,492 (GRCm39) L204* probably null Het
Or2ag1 A T 7: 106,313,810 (GRCm39) M26K probably benign Het
Or2ag18 G A 7: 106,405,018 (GRCm39) S217F probably damaging Het
Or4a68 T C 2: 89,270,060 (GRCm39) T188A probably benign Het
Or4e1 T A 14: 52,701,383 (GRCm39) M1L possibly damaging Het
Or5d14 A T 2: 87,880,815 (GRCm39) I51N probably damaging Het
Or5m12 A G 2: 85,735,348 (GRCm39) F17L probably damaging Het
Or7g35 T A 9: 19,495,914 (GRCm39) I27N probably damaging Het
Pdia4 A T 6: 47,777,936 (GRCm39) V352E probably damaging Het
Pik3c2a C A 7: 115,953,290 (GRCm39) V1202L probably damaging Het
Rbm15 G T 3: 107,239,846 (GRCm39) A184E possibly damaging Het
Rsph3a T A 17: 8,197,952 (GRCm39) L442* probably null Het
Scg2 G C 1: 79,413,320 (GRCm39) L468V probably damaging Het
Sdk1 A T 5: 141,923,473 (GRCm39) I365L probably benign Het
Setdb1 A G 3: 95,246,140 (GRCm39) V595A probably benign Het
Skic3 A C 13: 76,295,925 (GRCm39) M1063L probably benign Het
Slc22a22 T A 15: 57,113,046 (GRCm39) T398S probably benign Het
Stk11 C A 10: 79,962,119 (GRCm39) P217Q probably damaging Het
Tes G A 6: 17,097,557 (GRCm39) D222N probably benign Het
Tmem132e T A 11: 82,325,894 (GRCm39) I206N possibly damaging Het
Tmem214 G T 5: 31,029,876 (GRCm39) R251L probably damaging Het
Tmem253 T A 14: 52,256,036 (GRCm39) I105N probably damaging Het
Toe1 A G 4: 116,664,682 (GRCm39) V12A probably benign Het
Top1 C A 2: 160,556,079 (GRCm39) H513N probably damaging Het
Tph1 G T 7: 46,299,412 (GRCm39) Y376* probably null Het
Trim45 T A 3: 100,830,535 (GRCm39) L103Q probably damaging Het
Ttn T A 2: 76,774,518 (GRCm39) probably null Het
Twnk T C 19: 44,996,185 (GRCm39) V206A probably damaging Het
Ube2z A G 11: 95,941,114 (GRCm39) S343P probably damaging Het
Vmn2r8 T C 5: 108,951,049 (GRCm39) D132G probably benign Het
Wdr20rt A T 12: 65,272,581 (GRCm39) T15S probably benign Het
Wdr59 C T 8: 112,185,579 (GRCm39) R841Q possibly damaging Het
Wdtc1 A G 4: 133,036,151 (GRCm39) F130L possibly damaging Het
Wnk1 C T 6: 119,939,764 (GRCm39) R43Q probably damaging Het
Ythdf3 T C 3: 16,259,236 (GRCm39) L461P probably damaging Het
Zcchc2 T G 1: 105,943,821 (GRCm39) F462C possibly damaging Het
Other mutations in Pcgf3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01916:Pcgf3 APN 5 108,634,045 (GRCm39) missense probably benign 0.18
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
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'- TGTAACAGATGGTAATGGCACAGCG -3'
(R):5'- GCTAAAGTTCCAGCCTAGAGGCAAG -3'

Sequencing Primer
(F):5'- GTAATGGCACAGCGCAATC -3'
(R):5'- GCCTAGAGGCAAGTTACTACTC -3'
Posted On 2013-06-12