Incidental Mutation 'R4533:Rnf217'
ID 386365
Institutional Source Beutler Lab
Gene Symbol Rnf217
Ensembl Gene ENSMUSG00000063760
Gene Name ring finger protein 217
Synonyms Ibrdc1
MMRRC Submission 041773-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.137) question?
Stock # R4533 (G1)
Quality Score 74
Status Validated
Chromosome 10
Chromosomal Location 31377883-31485721 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 31484759 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Cysteine to Phenylalanine at position 141 (C141F)
Ref Sequence ENSEMBL: ENSMUSP00000080650 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000081989]
AlphaFold D3YYI7
Predicted Effect possibly damaging
Transcript: ENSMUST00000081989
AA Change: C141F

PolyPhen 2 Score 0.734 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000080650
Gene: ENSMUSG00000063760
AA Change: C141F

DomainStartEndE-ValueType
low complexity region 9 23 N/A INTRINSIC
low complexity region 39 59 N/A INTRINSIC
low complexity region 97 121 N/A INTRINSIC
low complexity region 147 191 N/A INTRINSIC
RING 236 280 2.01e-1 SMART
IBR 301 369 2.66e-16 SMART
IBR 376 447 3.19e-1 SMART
RING 396 425 4.87e0 SMART
transmembrane domain 479 501 N/A INTRINSIC
Meta Mutation Damage Score 0.0852 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.1%
  • 20x: 94.8%
Validation Efficiency 100% (54/54)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This protein encoded by this gene is a member of the RING1-IBR-RING24 (RBR) ubiquitin protein ligase family, and it belongs to a subfamily of these proteins that contain a transmembrane domain. This protein can interact with the HAX1 anti-apoptotic protein via its C-terminal RING finger motif, which suggests a role in apoptosis signaling. It is thought that deregulation of this gene can be a mechanism in leukemogenesis. Mutations in the region encoding the protein GXXXG motif, which appears to be necessary for protein self-association, have been found in human cancers. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Apr 2016]
Allele List at MGI
Other mutations in this stock
Total: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts7 A G 9: 90,062,761 (GRCm39) Y405C probably damaging Het
Ago3 A T 4: 126,239,356 (GRCm39) S832T probably damaging Het
Akap9 T A 5: 4,093,948 (GRCm39) F2157I probably damaging Het
Anapc5 T C 5: 122,929,798 (GRCm39) E561G possibly damaging Het
Art5 T C 7: 101,747,545 (GRCm39) H78R probably benign Het
Blvra T A 2: 126,932,304 (GRCm39) probably null Het
Ccdc171 A G 4: 83,575,579 (GRCm39) T488A possibly damaging Het
Crtc3 A T 7: 80,239,543 (GRCm39) M603K probably damaging Het
Csmd1 T C 8: 15,981,037 (GRCm39) probably null Het
Dbh C A 2: 27,067,343 (GRCm39) H409Q possibly damaging Het
Gm12185 T C 11: 48,798,747 (GRCm39) Y582C probably damaging Het
Gm12185 T C 11: 48,798,921 (GRCm39) N524S possibly damaging Het
Gm7356 A C 17: 14,221,672 (GRCm39) I119R probably damaging Het
Heatr1 T A 13: 12,449,392 (GRCm39) D1963E probably benign Het
Ighv1-37 A T 12: 114,860,147 (GRCm39) V21D probably damaging Het
Itga3 T G 11: 94,948,119 (GRCm39) Q602P probably benign Het
Kcmf1 G A 6: 72,826,574 (GRCm39) R152C probably damaging Het
Lin54 T C 5: 100,633,262 (GRCm39) I141V possibly damaging Het
Mast1 T A 8: 85,647,990 (GRCm39) H497L probably damaging Het
Mrpl44 T C 1: 79,753,971 (GRCm39) F41S possibly damaging Het
Myo18b T C 5: 112,840,891 (GRCm39) R2301G probably damaging Het
Nek1 A T 8: 61,460,247 (GRCm39) M58L possibly damaging Het
Or4k15c T C 14: 50,321,156 (GRCm39) probably null Het
Orc4 G A 2: 48,827,501 (GRCm39) P31S probably benign Het
P3h3 A G 6: 124,831,371 (GRCm39) V338A possibly damaging Het
Pabir3 G A X: 52,382,376 (GRCm39) R94H possibly damaging Het
Pcdha7 T C 18: 37,108,460 (GRCm39) V495A possibly damaging Het
Plcb3 T C 19: 6,933,640 (GRCm39) E895G probably benign Het
Plekha5 A G 6: 140,516,057 (GRCm39) E770G probably damaging Het
Ptchd3 C T 11: 121,727,257 (GRCm39) S377F probably damaging Het
Ptprj C T 2: 90,270,299 (GRCm39) D1266N probably damaging Het
Raly A T 2: 154,707,853 (GRCm39) E291V probably damaging Het
Rufy4 T C 1: 74,186,822 (GRCm39) C537R probably damaging Het
Slc12a3 A G 8: 95,083,714 (GRCm39) M914V probably null Het
Tbc1d9 A G 8: 83,997,547 (GRCm39) T1035A probably damaging Het
Tex14 C T 11: 87,427,655 (GRCm39) R36* probably null Het
Tiparp A G 3: 65,453,768 (GRCm39) D172G probably benign Het
Ttc3 T A 16: 94,267,736 (GRCm39) probably benign Het
Uap1 A T 1: 169,970,994 (GRCm39) I466N probably damaging Het
Ubr1 T C 2: 120,772,963 (GRCm39) T426A possibly damaging Het
Vmn1r77 T A 7: 11,775,756 (GRCm39) H177Q probably benign Het
Vmn2r72 T A 7: 85,401,134 (GRCm39) H95L probably benign Het
Vwc2l G A 1: 70,921,298 (GRCm39) C151Y probably damaging Het
Wdr12 T C 1: 60,117,354 (GRCm39) Y414C probably benign Het
Zfp609 A C 9: 65,610,890 (GRCm39) V691G probably benign Het
Zmiz1 T C 14: 25,646,084 (GRCm39) Y254H probably damaging Het
Other mutations in Rnf217
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00837:Rnf217 APN 10 31,379,770 (GRCm39) missense probably damaging 0.99
IGL01102:Rnf217 APN 10 31,484,499 (GRCm39) missense probably damaging 0.97
IGL02160:Rnf217 APN 10 31,381,767 (GRCm39) critical splice donor site probably null
R0582:Rnf217 UTSW 10 31,484,763 (GRCm39) missense possibly damaging 0.88
R0825:Rnf217 UTSW 10 31,393,453 (GRCm39) missense probably damaging 1.00
R1606:Rnf217 UTSW 10 31,410,807 (GRCm39) missense possibly damaging 0.93
R3715:Rnf217 UTSW 10 31,410,728 (GRCm39) nonsense probably null
R3809:Rnf217 UTSW 10 31,379,804 (GRCm39) missense possibly damaging 0.52
R4606:Rnf217 UTSW 10 31,393,472 (GRCm39) nonsense probably null
R4937:Rnf217 UTSW 10 31,393,520 (GRCm39) missense probably benign
R6683:Rnf217 UTSW 10 31,410,822 (GRCm39) missense possibly damaging 0.92
R6940:Rnf217 UTSW 10 31,381,973 (GRCm39) splice site probably null
R7751:Rnf217 UTSW 10 31,393,415 (GRCm39) missense probably damaging 1.00
R9668:Rnf217 UTSW 10 31,484,402 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- GGTAGAACTCCAGCTCGATG -3'
(R):5'- TGTCCAGGAGCCTGCGAG -3'

Sequencing Primer
(F):5'- AATCGGCCCCAGCGGTGCTTGA -3'
(R):5'- AGGAGCCTGCGAGCAACC -3'
Posted On 2016-05-19