Incidental Mutation 'IGL00837:Rnf217'
ID 13843
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Rnf217
Ensembl Gene ENSMUSG00000063760
Gene Name ring finger protein 217
Synonyms Ibrdc1
Accession Numbers
Essential gene? Probably non essential (E-score: 0.137) question?
Stock # IGL00837
Quality Score
Status
Chromosome 10
Chromosomal Location 31377883-31485721 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 31379770 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Proline at position 484 (L484P)
Ref Sequence ENSEMBL: ENSMUSP00000080650 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000081989]
AlphaFold D3YYI7
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

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
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: 55,438,605 (GRCm39) probably benign Het
Adig T A 2: 158,344,709 (GRCm39) F16Y possibly damaging Het
Alox12e T C 11: 70,211,880 (GRCm39) T210A probably benign Het
Ankfy1 T A 11: 72,646,724 (GRCm39) probably benign Het
Aoc1 T A 6: 48,885,598 (GRCm39) I701N possibly damaging Het
Armc1 A C 3: 19,198,584 (GRCm39) N125K probably benign Het
Bcl2a1c A T 9: 114,159,560 (GRCm39) T113S probably benign Het
Cdh10 A T 15: 19,013,490 (GRCm39) I697L probably benign Het
Cep350 A T 1: 155,829,137 (GRCm39) S256T probably damaging Het
Chd6 T C 2: 160,883,999 (GRCm39) N82S probably benign Het
Gart T C 16: 91,435,608 (GRCm39) probably benign Het
Gtf3c6 A G 10: 40,130,470 (GRCm39) probably benign Het
Igf1r T C 7: 67,851,100 (GRCm39) probably benign Het
Mtmr6 T A 14: 60,517,666 (GRCm39) Y92* probably null Het
Muc13 A T 16: 33,628,329 (GRCm39) K360* probably null Het
Nfyc A G 4: 120,638,744 (GRCm39) probably benign Het
Pole T A 5: 110,449,875 (GRCm39) V774E possibly damaging Het
Slc18a2 A T 19: 59,272,816 (GRCm39) I373F probably benign Het
Slc5a9 A G 4: 111,750,887 (GRCm39) probably benign Het
Tbc1d30 T C 10: 121,132,750 (GRCm39) I205V probably damaging Het
Tfap2d A T 1: 19,189,430 (GRCm39) D270V probably damaging Het
Tmem63c G A 12: 87,123,971 (GRCm39) S483N probably benign Het
Tor1aip1 T A 1: 155,882,662 (GRCm39) probably benign Het
Tsga10 A C 1: 37,840,992 (GRCm39) probably benign Het
Ttc21b A T 2: 66,065,915 (GRCm39) probably null Het
Wdr89 A T 12: 75,679,825 (GRCm39) L143* probably null Het
Other mutations in Rnf217
AlleleSourceChrCoordTypePredicted EffectPPH Score
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
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
Posted On 2012-12-06