Incidental Mutation 'IGL00837:Rnf217'
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Rnf217
Ensembl Gene ENSMUSG00000063760
Gene Namering finger protein 217
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.140) question?
Stock #IGL00837
Quality Score
Chromosomal Location31493193-31609184 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 31503774 bp
Amino Acid Change Leucine to Proline at position 484 (L484P)
Ref Sequence ENSEMBL: ENSMUSP00000080650 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000081989]
Predicted Effect probably damaging
Transcript: ENSMUST00000081989
AA Change: L484P

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000080650
Gene: ENSMUSG00000063760
AA Change: L484P

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
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: 26 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adcyap1r1 T C 6: 55,461,620 probably benign Het
Adig T A 2: 158,502,789 F16Y possibly damaging Het
Alox12e T C 11: 70,321,054 T210A probably benign Het
Ankfy1 T A 11: 72,755,898 probably benign Het
Aoc1 T A 6: 48,908,664 I701N possibly damaging Het
Armc1 A C 3: 19,144,420 N125K probably benign Het
Bcl2a1c A T 9: 114,330,492 T113S probably benign Het
Cdh10 A T 15: 19,013,404 I697L probably benign Het
Cep350 A T 1: 155,953,391 S256T probably damaging Het
Chd6 T C 2: 161,042,079 N82S probably benign Het
Gart T C 16: 91,638,720 probably benign Het
Gtf3c6 A G 10: 40,254,474 probably benign Het
Igf1r T C 7: 68,201,352 probably benign Het
Mtmr6 T A 14: 60,280,217 Y92* probably null Het
Muc13 A T 16: 33,807,959 K360* probably null Het
Nfyc A G 4: 120,781,547 probably benign Het
Pole T A 5: 110,302,009 V774E possibly damaging Het
Slc18a2 A T 19: 59,284,384 I373F probably benign Het
Slc5a9 A G 4: 111,893,690 probably benign Het
Tbc1d30 T C 10: 121,296,845 I205V probably damaging Het
Tfap2d A T 1: 19,119,206 D270V probably damaging Het
Tmem63c G A 12: 87,077,197 S483N probably benign Het
Tor1aip1 T A 1: 156,006,916 probably benign Het
Tsga10 A C 1: 37,801,911 probably benign Het
Ttc21b A T 2: 66,235,571 probably null Het
Wdr89 A T 12: 75,633,051 L143* probably null Het
Other mutations in Rnf217
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01102:Rnf217 APN 10 31608503 missense probably damaging 0.97
IGL02160:Rnf217 APN 10 31505771 critical splice donor site probably null
R0582:Rnf217 UTSW 10 31608767 missense possibly damaging 0.88
R0825:Rnf217 UTSW 10 31517457 missense probably damaging 1.00
R1606:Rnf217 UTSW 10 31534811 missense possibly damaging 0.93
R3715:Rnf217 UTSW 10 31534732 nonsense probably null
R3809:Rnf217 UTSW 10 31503808 missense possibly damaging 0.52
R4533:Rnf217 UTSW 10 31608763 missense possibly damaging 0.73
R4606:Rnf217 UTSW 10 31517476 nonsense probably null
R4937:Rnf217 UTSW 10 31517524 missense probably benign
R6683:Rnf217 UTSW 10 31534826 missense possibly damaging 0.92
R6940:Rnf217 UTSW 10 31505977 splice site probably null
Posted On2012-12-06