Incidental Mutation 'R0825:Rnf217'
ID 78185
Institutional Source Beutler Lab
Gene Symbol Rnf217
Ensembl Gene ENSMUSG00000063760
Gene Name ring finger protein 217
Synonyms Ibrdc1
MMRRC Submission 039005-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.137) question?
Stock # R0825 (G1)
Quality Score 225
Status Validated
Chromosome 10
Chromosomal Location 31377883-31485721 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 31393453 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 376 (D376G)
Ref Sequence ENSEMBL: ENSMUSP00000080650 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000081989]
AlphaFold D3YYI7
Predicted Effect probably damaging
Transcript: ENSMUST00000081989
AA Change: D376G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000080650
Gene: ENSMUSG00000063760
AA Change: D376G

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 0.2647 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.5%
  • 10x: 96.4%
  • 20x: 91.4%
Validation Efficiency 98% (46/47)
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: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca3 T A 17: 24,619,551 (GRCm39) I963N probably damaging Het
Aox4 A G 1: 58,288,068 (GRCm39) D727G possibly damaging Het
Arhgef26 T A 3: 62,334,014 (GRCm39) I590N probably damaging Het
Arid1b T G 17: 5,392,453 (GRCm39) C1994W probably damaging Het
Chd9 T C 8: 91,777,825 (GRCm39) I2628T probably benign Het
Clspn G A 4: 126,466,923 (GRCm39) probably benign Het
Cyp2a4 A T 7: 26,012,341 (GRCm39) T375S probably benign Het
Dmtf1 A T 5: 9,180,388 (GRCm39) M226K probably damaging Het
Erap1 T C 13: 74,822,733 (GRCm39) probably benign Het
Frmpd1 A G 4: 45,285,394 (GRCm39) D1405G possibly damaging Het
Gfm2 A T 13: 97,279,612 (GRCm39) probably benign Het
Ghsr T C 3: 27,428,776 (GRCm39) V267A probably damaging Het
Golga2 A C 2: 32,194,803 (GRCm39) Q650P probably damaging Het
Hmgcl A G 4: 135,687,381 (GRCm39) T219A probably benign Het
Ift27 C A 15: 78,049,336 (GRCm39) probably benign Het
Igfn1 C T 1: 135,890,864 (GRCm39) E2379K probably damaging Het
Iqca1 C A 1: 90,070,453 (GRCm39) G133V probably null Het
Kpnb1 A T 11: 97,062,501 (GRCm39) S421R probably damaging Het
Minar1 G A 9: 89,485,332 (GRCm39) Q22* probably null Het
Mtx3 C A 13: 92,986,849 (GRCm39) T264K probably damaging Het
Nrg3 G A 14: 39,194,348 (GRCm39) P137L possibly damaging Het
Nt5c2 A G 19: 46,887,344 (GRCm39) probably benign Het
Or2y1e T A 11: 49,218,509 (GRCm39) H90Q probably benign Het
Or5ac17 G T 16: 59,036,813 (GRCm39) H54Q possibly damaging Het
Pcdhb2 G A 18: 37,428,710 (GRCm39) V228I possibly damaging Het
Pdcd5 G A 7: 35,346,338 (GRCm39) R91W possibly damaging Het
Pxdn G A 12: 30,034,995 (GRCm39) probably benign Het
Rgl2 T A 17: 34,154,133 (GRCm39) probably null Het
Septin9 C T 11: 117,250,286 (GRCm39) L519F probably damaging Het
Slc15a5 C T 6: 137,995,087 (GRCm39) C386Y possibly damaging Het
Srrm4 T A 5: 116,591,772 (GRCm39) I256F unknown Het
Stab1 G T 14: 30,874,557 (GRCm39) D950E probably benign Het
Stim2 A G 5: 54,275,825 (GRCm39) T667A probably benign Het
Strbp A T 2: 37,525,539 (GRCm39) N144K probably benign Het
Sync A G 4: 129,187,190 (GRCm39) Y74C probably benign Het
Terb1 A T 8: 105,195,380 (GRCm39) M587K possibly damaging Het
Tgfbi T C 13: 56,786,523 (GRCm39) probably benign Het
Tmf1 A T 6: 97,152,956 (GRCm39) N372K probably benign Het
Ubr4 G T 4: 139,206,887 (GRCm39) probably null Het
Uggt1 A T 1: 36,197,224 (GRCm39) N1226K probably benign Het
Ugt2b34 T C 5: 87,054,560 (GRCm39) I74V possibly damaging Het
Wdfy3 A G 5: 102,017,917 (GRCm39) L2541P probably damaging Het
Zfhx3 T G 8: 109,675,840 (GRCm39) F2297V 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
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
R4533:Rnf217 UTSW 10 31,484,759 (GRCm39) missense possibly damaging 0.73
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'- CATGCTACATGTCCATGCCGTGAA -3'
(R):5'- TGCCTGAGTAGTCTCTGACAACAAACT -3'

Sequencing Primer
(F):5'- ATGTCCATGCCGTGAATACTG -3'
(R):5'- agttcctacccttatttcccttc -3'
Posted On 2013-10-16