Incidental Mutation 'R6940:Rnf217'
ID 540511
Institutional Source Beutler Lab
Gene Symbol Rnf217
Ensembl Gene ENSMUSG00000063760
Gene Name ring finger protein 217
Synonyms Ibrdc1
MMRRC Submission 045054-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.134) question?
Stock # R6940 (G1)
Quality Score 225.009
Status Validated
Chromosome 10
Chromosomal Location 31377883-31485721 bp(-) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) G to T at 31381973 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000080650 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000081989]
AlphaFold D3YYI7
Predicted Effect probably null
Transcript: ENSMUST00000081989
SMART Domains Protein: ENSMUSP00000080650
Gene: ENSMUSG00000063760

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 0.9755 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.3%
  • 20x: 97.8%
Validation Efficiency 100% (49/49)
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: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acsbg1 C A 9: 54,516,381 (GRCm39) A667S probably benign Het
Ank2 G A 3: 126,735,621 (GRCm39) probably benign Het
Arhgef28 A G 13: 98,102,038 (GRCm39) L812P possibly damaging Het
Armc5 C T 7: 127,839,470 (GRCm39) R263* probably null Het
Cadps2 A T 6: 23,302,491 (GRCm39) V740E probably damaging Het
Cckbr T C 7: 105,084,103 (GRCm39) V279A probably benign Het
Cd101 T C 3: 100,911,018 (GRCm39) D880G probably damaging Het
Cep350 A T 1: 155,804,297 (GRCm39) S929T probably benign Het
Chaf1b G A 16: 93,702,853 (GRCm39) R556H probably benign Het
Csn1s1 A T 5: 87,822,882 (GRCm39) Q69L possibly damaging Het
Dennd1b T C 1: 138,981,155 (GRCm39) probably null Het
Dnah11 T C 12: 118,162,503 (GRCm39) D22G probably benign Het
Dnah7a T C 1: 53,670,836 (GRCm39) H472R probably benign Het
Dnah7b G A 1: 46,158,428 (GRCm39) R337H probably benign Het
Eif2ak3 T C 6: 70,869,386 (GRCm39) V691A possibly damaging Het
Ern2 T C 7: 121,785,369 (GRCm39) R3G probably benign Het
Fat3 T C 9: 15,828,096 (GRCm39) probably null Het
Fnbp4 T C 2: 90,575,858 (GRCm39) F20L unknown Het
Gtf2b C A 3: 142,484,016 (GRCm39) D63E probably damaging Het
Hydin A G 8: 111,217,243 (GRCm39) Y1377C probably damaging Het
Klf1 A G 8: 85,628,724 (GRCm39) T41A possibly damaging Het
Lce3d G A 3: 92,865,541 (GRCm39) S52N unknown Het
Lrit1 G C 14: 36,782,052 (GRCm39) V242L probably damaging Het
Lrrfip1 T A 1: 91,050,135 (GRCm39) probably null Het
Ltbp4 A C 7: 27,008,369 (GRCm39) V1313G probably damaging Het
Morc1 C A 16: 48,300,208 (GRCm39) S235* probably null Het
Mr1 T G 1: 155,005,014 (GRCm39) *342S probably null Het
Muc21 C A 17: 35,934,118 (GRCm39) probably benign Het
Nol4l T A 2: 153,253,684 (GRCm39) S630C probably benign Het
Nr4a3 C T 4: 48,051,486 (GRCm39) P80L probably benign Het
Or51a43 A G 7: 103,717,620 (GRCm39) I206T possibly damaging Het
Otof A G 5: 30,528,987 (GRCm39) V1807A probably damaging Het
Pde5a T A 3: 122,572,681 (GRCm39) V354E possibly damaging Het
Pmfbp1 A T 8: 110,251,823 (GRCm39) E355D probably damaging Het
Ppp2r2c A G 5: 37,084,875 (GRCm39) D112G probably damaging Het
Prkacb A T 3: 146,457,254 (GRCm39) I37N probably damaging Het
Prox2 T C 12: 85,141,348 (GRCm39) D285G probably benign Het
Ranbp3l A G 15: 9,041,792 (GRCm39) S61G probably benign Het
Rnf214 T A 9: 45,802,196 (GRCm39) T289S probably damaging Het
Sc5d A T 9: 42,166,723 (GRCm39) M272K probably benign Het
Slco6c1 T C 1: 97,000,626 (GRCm39) T542A possibly damaging Het
Sord T A 2: 122,094,536 (GRCm39) I308N probably damaging Het
Syvn1 A T 19: 6,101,214 (GRCm39) probably benign Het
Tas2r134 A G 2: 51,518,148 (GRCm39) H209R probably benign Het
Trak1 T C 9: 121,272,784 (GRCm39) V214A possibly damaging Het
Trpm5 C A 7: 142,638,547 (GRCm39) E322* probably null Het
Ttf2 T C 3: 100,876,831 (GRCm39) T17A probably damaging Het
Vmn2r53 T C 7: 12,316,343 (GRCm39) E492G probably benign Het
Xndc1 T C 7: 101,727,094 (GRCm39) V161A 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
R6683:Rnf217 UTSW 10 31,410,822 (GRCm39) missense possibly damaging 0.92
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'- TGCTACTTACCACAGACTGACC -3'
(R):5'- AGCCATGTTACAGGATCATAATGG -3'

Sequencing Primer
(F):5'- ATCTTCTTAAATGAGGTCTCTCTGG -3'
(R):5'- TTCACTTCAGGGATGCTC -3'
Posted On 2018-11-06