Incidental Mutation 'IGL03196:Rnf216'
ID412812
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Rnf216
Ensembl Gene ENSMUSG00000045078
Gene Namering finger protein 216
Synonyms2810055G22Rik, Ubce7ip1, F830018F18Rik, UIP83
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL03196
Quality Score
Status
Chromosome5
Chromosomal Location142990893-143112994 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 143081011 bp
ZygosityHeterozygous
Amino Acid Change Arginine to Glycine at position 474 (R474G)
Ref Sequence ENSEMBL: ENSMUSP00000143705 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000053498] [ENSMUST00000197296] [ENSMUST00000200430] [ENSMUST00000200607]
Predicted Effect probably damaging
Transcript: ENSMUST00000053498
AA Change: R417G

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000052563
Gene: ENSMUSG00000045078
AA Change: R417G

DomainStartEndE-ValueType
Blast:RING 560 620 4e-6 BLAST
IBR 629 693 6.82e-5 SMART
IBR 702 769 1.79e-1 SMART
low complexity region 786 803 N/A INTRINSIC
low complexity region 842 866 N/A INTRINSIC
low complexity region 869 881 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000197217
Predicted Effect probably benign
Transcript: ENSMUST00000197296
Predicted Effect noncoding transcript
Transcript: ENSMUST00000198190
Predicted Effect probably benign
Transcript: ENSMUST00000200430
Predicted Effect probably damaging
Transcript: ENSMUST00000200607
AA Change: R474G

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000143705
Gene: ENSMUSG00000045078
AA Change: R474G

DomainStartEndE-ValueType
Blast:RING 560 620 4e-6 BLAST
IBR 629 693 6.82e-5 SMART
IBR 702 769 1.79e-1 SMART
low complexity region 786 803 N/A INTRINSIC
low complexity region 842 866 N/A INTRINSIC
low complexity region 869 881 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 gene encodes a cytoplasmic protein which specifically colocalizes and interacts with the serine/threonine protein kinase, receptor-interacting protein (RIP). Zinc finger domains of the encoded protein are required for its interaction with RIP and for inhibition of TNF- and IL1-induced NF-kappa B activation pathways. The encoded protein may also function as an E3 ubiquitin-protein ligase which accepts ubiquitin from E2 ubiquitin-conjugating enzymes and transfers it to substrates. Several alternatively spliced transcript variants have been described for this locus but the full-length natures of only some are known. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700003E16Rik T C 6: 83,161,063 V57A probably damaging Het
2410089E03Rik A T 15: 8,201,342 K1034N probably damaging Het
Adck1 T C 12: 88,431,115 V173A probably damaging Het
Adgrv1 C A 13: 81,446,478 R4139L probably benign Het
Aqp4 T G 18: 15,393,509 D305A probably benign Het
Cadm1 T C 9: 47,799,377 S193P possibly damaging Het
Ccdc88a T C 11: 29,482,340 S377P possibly damaging Het
Clic5 C A 17: 44,242,073 H71Q possibly damaging Het
Col20a1 G A 2: 181,007,878 probably null Het
Col5a1 A G 2: 27,975,598 D759G unknown Het
Cpt1b A G 15: 89,424,395 V110A probably benign Het
Cts8 C T 13: 61,253,458 G85S probably benign Het
Cul5 T A 9: 53,625,880 M551L probably damaging Het
Eno1b T A 18: 48,047,491 D245E probably damaging Het
Fgf1 A T 18: 38,841,975 Y140* probably null Het
Flt1 A G 5: 147,615,127 probably null Het
Fndc7 A G 3: 108,883,444 Y89H probably damaging Het
Gm3127 A T 14: 4,172,510 M254L probably benign Het
Gm5849 T C 3: 90,777,782 E32G probably damaging Het
Gys1 T C 7: 45,454,817 probably benign Het
Hdgfl2 T C 17: 56,093,607 V125A probably benign Het
Hypm A G X: 9,847,110 Q27R possibly damaging Het
Igkv6-32 C T 6: 70,074,058 V105I probably benign Het
Lmo3 T C 6: 138,365,995 T140A probably benign Het
Marf1 A G 16: 14,140,259 V793A possibly damaging Het
Mep1b A C 18: 21,095,064 I575L probably benign Het
Mtmr4 T A 11: 87,600,783 I155N possibly damaging Het
Muc2 T C 7: 141,747,630 F361L probably damaging Het
Ncoa7 T A 10: 30,647,514 probably benign Het
Nme6 C T 9: 109,841,493 R71W probably damaging Het
Olfr1015 G A 2: 85,786,021 G170D possibly damaging Het
Olfr1158 A T 2: 87,990,482 I124F possibly damaging Het
Olfr504 T C 7: 108,564,854 S314G probably benign Het
Osbpl9 C T 4: 109,072,864 V357I probably damaging Het
Ppp4r3a A G 12: 101,049,654 probably benign Het
Rpp25l A G 4: 41,712,541 V78A possibly damaging Het
Sh3bp2 C A 5: 34,557,343 P245Q probably damaging Het
Slc33a1 A G 3: 63,963,730 F154S possibly damaging Het
Wasf2 T A 4: 133,194,421 S284T unknown Het
Wdtc1 T C 4: 133,295,337 E566G probably damaging Het
Zcchc14 C T 8: 121,609,138 probably benign Het
Other mutations in Rnf216
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02417:Rnf216 APN 5 143068910 missense possibly damaging 0.67
IGL02502:Rnf216 APN 5 143068867 missense probably damaging 1.00
IGL02536:Rnf216 APN 5 143080240 missense probably benign 0.04
PIT4445001:Rnf216 UTSW 5 143086003 missense probably damaging 1.00
R0270:Rnf216 UTSW 5 143080241 missense possibly damaging 0.63
R0422:Rnf216 UTSW 5 143015654 nonsense probably null
R0422:Rnf216 UTSW 5 143090370 missense probably benign 0.15
R0782:Rnf216 UTSW 5 143068892 missense possibly damaging 0.64
R1109:Rnf216 UTSW 5 143068369 missense probably damaging 1.00
R1917:Rnf216 UTSW 5 142992806 missense probably benign 0.03
R2233:Rnf216 UTSW 5 143090926 missense probably benign
R2234:Rnf216 UTSW 5 143090926 missense probably benign
R2235:Rnf216 UTSW 5 143090926 missense probably benign
R2340:Rnf216 UTSW 5 143080334 missense probably damaging 0.99
R3015:Rnf216 UTSW 5 143075725 critical splice donor site probably null
R3726:Rnf216 UTSW 5 143027946 missense probably damaging 0.96
R4231:Rnf216 UTSW 5 143093090 missense probably damaging 1.00
R4885:Rnf216 UTSW 5 143090580 nonsense probably null
R4942:Rnf216 UTSW 5 143093059 missense probably damaging 1.00
R4973:Rnf216 UTSW 5 143090316 missense probably benign
R5291:Rnf216 UTSW 5 143090212 missense probably benign
R5307:Rnf216 UTSW 5 143093002 missense probably damaging 1.00
R5328:Rnf216 UTSW 5 143092999 missense possibly damaging 0.84
R5416:Rnf216 UTSW 5 143015771 nonsense probably null
R5888:Rnf216 UTSW 5 143068314 splice site probably null
R6048:Rnf216 UTSW 5 143068904 missense probably damaging 1.00
R6451:Rnf216 UTSW 5 142992834 missense possibly damaging 0.80
R6595:Rnf216 UTSW 5 143090657 missense probably benign 0.00
R7422:Rnf216 UTSW 5 143090836 missense probably benign 0.01
R7470:Rnf216 UTSW 5 142992725 missense possibly damaging 0.88
R7504:Rnf216 UTSW 5 143075759 missense probably benign 0.27
R7507:Rnf216 UTSW 5 143089802 missense probably damaging 1.00
R7695:Rnf216 UTSW 5 143085904 missense possibly damaging 0.80
R7757:Rnf216 UTSW 5 143080236 missense probably damaging 1.00
R7768:Rnf216 UTSW 5 143098444 start codon destroyed probably null 1.00
R8056:Rnf216 UTSW 5 142992861 missense probably benign 0.02
R8081:Rnf216 UTSW 5 143027964 missense probably damaging 0.98
Z1176:Rnf216 UTSW 5 143098443 start codon destroyed probably null 0.99
Z1177:Rnf216 UTSW 5 142992807 missense probably benign
Posted On2016-08-02