Incidental Mutation 'R6683:Rnf217'
ID 527583
Institutional Source Beutler Lab
Gene Symbol Rnf217
Ensembl Gene ENSMUSG00000063760
Gene Name ring finger protein 217
Synonyms Ibrdc1
MMRRC Submission 044802-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.134) question?
Stock # R6683 (G1)
Quality Score 225.009
Status Not validated
Chromosome 10
Chromosomal Location 31377883-31485721 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 31410822 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 291 (V291A)
Ref Sequence ENSEMBL: ENSMUSP00000080650 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000081989]
AlphaFold D3YYI7
Predicted Effect possibly damaging
Transcript: ENSMUST00000081989
AA Change: V291A

PolyPhen 2 Score 0.923 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000080650
Gene: ENSMUSG00000063760
AA Change: V291A

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
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 98.5%
  • 20x: 96.0%
Validation Efficiency
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: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aamp T C 1: 74,321,604 (GRCm39) E169G possibly damaging Het
Acat2 G A 17: 13,162,814 (GRCm39) R377C probably benign Het
Adgrg6 A G 10: 14,331,911 (GRCm39) V398A probably damaging Het
BC025920 A G 10: 81,445,135 (GRCm39) H86R probably damaging Het
BC028528 T C 3: 95,795,539 (GRCm39) T88A probably damaging Het
Creb3l4 T A 3: 90,145,112 (GRCm39) T347S probably benign Het
Dhcr7 T C 7: 143,397,048 (GRCm39) V180A probably damaging Het
Fam187a T C 11: 102,777,015 (GRCm39) V273A probably damaging Het
Hdgfl3 G A 7: 81,550,101 (GRCm39) R78W possibly damaging Het
Krt8 T C 15: 101,906,439 (GRCm39) T357A probably benign Het
Lkaaear1 TCTCCAGCTCCAGCTCCAGCTCCAGCTCCAGCTCCAGCTCCAG TCTCCAGCTCCAGCTCCAGCTCCAGCTCCAGCTCCAGCTCCAGCTCCAG 2: 181,339,354 (GRCm39) probably benign Het
Ly6d A T 15: 74,634,299 (GRCm39) V97D probably benign Het
Map3k13 T C 16: 21,711,062 (GRCm39) I115T probably benign Het
Muc2 G A 7: 141,305,214 (GRCm39) V173I probably benign Het
Nck2 T C 1: 43,608,338 (GRCm39) S327P probably benign Het
Ncoa7 T C 10: 30,647,717 (GRCm39) R20G probably damaging Het
Nlrp4f G A 13: 65,347,009 (GRCm39) T83I probably benign Het
Nploc4 A G 11: 120,274,156 (GRCm39) S546P probably damaging Het
Or1e1d-ps1 A G 11: 73,818,939 (GRCm39) Y36C probably damaging Het
Or51g2 C T 7: 102,622,920 (GRCm39) R93Q probably benign Het
Or52e8 C T 7: 104,625,175 (GRCm39) V10I probably benign Het
Or5b21 A G 19: 12,840,014 (GRCm39) S292G probably damaging Het
Panx1 T C 9: 14,919,307 (GRCm39) E184G probably benign Het
Parp14 T C 16: 35,655,047 (GRCm39) Y1808C probably damaging Het
Plcb1 A T 2: 134,628,513 (GRCm39) S21C probably benign Het
Ppil6 A G 10: 41,374,427 (GRCm39) N103D probably benign Het
Pth1r C T 9: 110,556,319 (GRCm39) probably null Het
Rapgef4 A T 2: 71,885,123 (GRCm39) probably benign Het
Rlf A G 4: 121,005,123 (GRCm39) S1286P probably damaging Het
Serpina3a T C 12: 104,085,896 (GRCm39) M117T probably benign Het
St8sia4 T C 1: 95,581,424 (GRCm39) D106G probably damaging Het
Tjp2 A G 19: 24,098,207 (GRCm39) I485T probably damaging Het
Trdc T C 14: 54,381,692 (GRCm39) probably benign Het
Ttn A G 2: 76,541,004 (GRCm39) L33994P probably damaging Het
Vmn2r42 T A 7: 8,187,224 (GRCm39) K799N probably damaging Het
Zfp42 G A 8: 43,749,093 (GRCm39) T136M possibly damaging Het
Znhit1 A T 5: 137,011,487 (GRCm39) S109T probably benign 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
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
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'- CCCGTCTGGAGAGCATACTTAC -3'
(R):5'- GAGAACGCTTTAACATCCTATAGATCC -3'

Sequencing Primer
(F):5'- GGAGAGCATACTTACTTTGTATCTGC -3'
(R):5'- CCTTAATAACCAGTGGTCTC -3'
Posted On 2018-07-23