Incidental Mutation 'IGL01102:Rnf217'
ID 52100
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Rnf217
Ensembl Gene ENSMUSG00000063760
Gene Name ring finger protein 217
Synonyms Ibrdc1
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.134) question?
Stock # IGL01102
Quality Score
Status
Chromosome 10
Chromosomal Location 31493193-31609184 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) A to G at 31608503 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Histidine at position 228 (Y228H)
Ref Sequence ENSEMBL: ENSMUSP00000080650 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000081989]
AlphaFold D3YYI7
Predicted Effect probably damaging
Transcript: ENSMUST00000081989
AA Change: Y228H

PolyPhen 2 Score 0.969 (Sensitivity: 0.77; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000080650
Gene: ENSMUSG00000063760
AA Change: Y228H

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: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca2 C T 2: 25,433,956 probably benign Het
Bloc1s2-ps C T 2: 52,619,902 A50V probably benign Het
Col4a3 A G 1: 82,669,720 D455G unknown Het
Col4a3 A G 1: 82,670,255 I496V unknown Het
Coro1c A T 5: 113,849,614 M222K probably benign Het
Dnah5 T A 15: 28,410,003 probably null Het
Emc4 C A 2: 112,367,526 probably benign Het
Fam160a1 A G 3: 85,665,501 probably benign Het
Fcer2a T C 8: 3,688,842 D32G possibly damaging Het
Garnl3 T C 2: 33,006,816 K559E probably damaging Het
Gckr T C 5: 31,309,037 L452P probably damaging Het
Gm13119 A G 4: 144,363,625 I412V probably benign Het
Gm4841 A G 18: 60,270,052 V323A probably damaging Het
Gm6902 T A 7: 23,273,662 I147L probably benign Het
Gpr75 T C 11: 30,891,755 V220A probably benign Het
Hdac6 A G X: 7,946,998 S42P probably benign Het
Hdhd2 A G 18: 76,956,911 N128S probably damaging Het
Hsd3b2 G T 3: 98,711,679 R317S probably damaging Het
Il23r T A 6: 67,423,925 I474F probably damaging Het
Itga5 T C 15: 103,346,675 Y954C probably benign Het
Itgam T C 7: 128,080,273 F196L possibly damaging Het
Mapkbp1 T C 2: 120,021,858 V957A possibly damaging Het
Mblac2 T C 13: 81,750,006 M167T probably damaging Het
Mterf4 C T 1: 93,305,090 R13H possibly damaging Het
Npffr1 T G 10: 61,614,208 V87G probably damaging Het
Olfr186 G A 16: 59,027,829 P26L probably benign Het
Olfr813 A G 10: 129,856,628 I37V probably benign Het
Phldb2 A G 16: 45,825,060 L386P probably damaging Het
Ppp1r13b A G 12: 111,833,219 I708T probably benign Het
Ramp2 T A 11: 101,247,627 Y85N probably benign Het
Rock1 T G 18: 10,080,502 D1014A probably benign Het
Scyl3 T A 1: 163,934,769 C101* probably null Het
Sema6b G T 17: 56,132,761 L27I possibly damaging Het
Slc10a5 A G 3: 10,335,309 V97A probably benign Het
Strc C A 2: 121,365,060 R1636L probably benign Het
Tm9sf1 T A 14: 55,642,767 T58S probably damaging Het
Tmem106c T C 15: 97,966,944 Y85H probably damaging Het
Uhrf1bp1l T C 10: 89,791,378 L435P probably benign Het
Vmn2r9 A G 5: 108,842,945 probably null Het
Vps13a A G 19: 16,651,417 probably null Het
Zfp976 A T 7: 42,613,909 L168* probably null Het
Other mutations in Rnf217
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00837:Rnf217 APN 10 31503774 missense probably damaging 0.99
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
R7751:Rnf217 UTSW 10 31517419 missense probably damaging 1.00
R9668:Rnf217 UTSW 10 31608406 missense probably damaging 1.00
Posted On 2013-06-21