Incidental Mutation 'R2234:Rnf216'
ID 239915
Institutional Source Beutler Lab
Gene Symbol Rnf216
Ensembl Gene ENSMUSG00000045078
Gene Name ring finger protein 216
Synonyms 2810055G22Rik, F830018F18Rik, UIP83, Ubce7ip1
MMRRC Submission 040235-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R2234 (G1)
Quality Score 225
Status Not validated
Chromosome 5
Chromosomal Location 142976648-143098749 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 143076681 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Tyrosine at position 68 (H68Y)
Ref Sequence ENSEMBL: ENSMUSP00000143705 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000053498] [ENSMUST00000197296] [ENSMUST00000200607] [ENSMUST00000200430]
AlphaFold P58283
Predicted Effect probably benign
Transcript: ENSMUST00000053498
SMART Domains Protein: ENSMUSP00000052563
Gene: ENSMUSG00000045078

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: ENSMUST00000198179
Predicted Effect noncoding transcript
Transcript: ENSMUST00000198190
Predicted Effect noncoding transcript
Transcript: ENSMUST00000200002
Predicted Effect probably benign
Transcript: ENSMUST00000200607
AA Change: H68Y

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000143705
Gene: ENSMUSG00000045078
AA Change: H68Y

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 probably benign
Transcript: ENSMUST00000200430
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.7%
  • 10x: 97.6%
  • 20x: 96.1%
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: 57 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acbd6 A G 1: 155,434,454 (GRCm39) D24G probably damaging Het
Adarb1 A G 10: 77,153,183 (GRCm39) V322A probably damaging Het
Akap8l C T 17: 32,557,777 (GRCm39) G37R probably damaging Het
BC035947 A T 1: 78,474,599 (GRCm39) D644E probably damaging Het
Capzb T A 4: 138,989,334 (GRCm39) D85E possibly damaging Het
Cd81 T A 7: 142,620,056 (GRCm39) N71K probably benign Het
Cemip G T 7: 83,647,770 (GRCm39) D103E probably benign Het
Chfr A G 5: 110,318,729 (GRCm39) K580E probably damaging Het
Chrnb1 A T 11: 69,686,428 (GRCm39) I64N probably damaging Het
Clca3a1 G T 3: 144,714,829 (GRCm39) P596Q possibly damaging Het
Cpb1 A T 3: 20,329,629 (GRCm39) D32E probably benign Het
Crh A T 3: 19,748,096 (GRCm39) M182K probably damaging Het
Csta1 C T 16: 35,945,445 (GRCm39) V23I probably damaging Het
Dazap1 A G 10: 80,113,433 (GRCm39) K110E possibly damaging Het
Dhx16 T C 17: 36,198,778 (GRCm39) C737R probably damaging Het
Dync1i2 C T 2: 71,079,764 (GRCm39) Q419* probably null Het
Eml5 A C 12: 98,807,840 (GRCm39) D984E probably damaging Het
Fat3 G A 9: 15,909,567 (GRCm39) S2145F probably damaging Het
Gm12695 C T 4: 96,612,266 (GRCm39) R499Q probably damaging Het
Hid1 A G 11: 115,241,945 (GRCm39) I555T probably damaging Het
Hspa2 A G 12: 76,451,419 (GRCm39) T38A possibly damaging Het
Igf1r T A 7: 67,861,828 (GRCm39) N1129K probably damaging Het
Iglon5 T C 7: 43,130,062 (GRCm39) E34G probably damaging Het
Itprid1 A T 6: 55,874,797 (GRCm39) H249L possibly damaging Het
Kalrn C A 16: 33,996,632 (GRCm39) probably null Het
Kmt2d T C 15: 98,763,129 (GRCm39) D240G probably damaging Het
Lrrc56 T A 7: 140,778,207 (GRCm39) D66E probably damaging Het
Myot A G 18: 44,487,339 (GRCm39) D392G probably damaging Het
Nphp3 G A 9: 103,914,575 (GRCm39) R1052H probably benign Het
Obscn T C 11: 59,022,472 (GRCm39) R758G possibly damaging Het
Or2d4 C A 7: 106,543,827 (GRCm39) C127F probably damaging Het
Or4c114 A G 2: 88,904,592 (GRCm39) L281P probably damaging Het
Or6z5 T C 7: 6,477,441 (GRCm39) S111P possibly damaging Het
Or7g19 A T 9: 18,856,112 (GRCm39) H56L probably damaging Het
Or8k39 A G 2: 86,563,921 (GRCm39) F12L possibly damaging Het
Pax8 A G 2: 24,333,114 (GRCm39) I77T probably damaging Het
Paxbp1 T C 16: 90,831,822 (GRCm39) I355M probably benign Het
Pds5a A T 5: 65,811,441 (GRCm39) F331I probably damaging Het
Plec A T 15: 76,061,147 (GRCm39) I2952N probably damaging Het
Ppp1r12a A G 10: 108,034,780 (GRCm39) I108M possibly damaging Het
Rabepk A T 2: 34,685,246 (GRCm39) I58N possibly damaging Het
Scap T C 9: 110,210,661 (GRCm39) C998R probably damaging Het
Scgb1b27 T C 7: 33,721,249 (GRCm39) Y46H probably damaging Het
Sf3a2 G T 10: 80,638,663 (GRCm39) A95S probably benign Het
Smg7 A T 1: 152,744,064 (GRCm39) Y40N probably damaging Het
Ssc5d A G 7: 4,946,849 (GRCm39) T1068A probably benign Het
Stambp A G 6: 83,528,960 (GRCm39) S362P probably damaging Het
Tbx18 G T 9: 87,606,403 (GRCm39) S247R probably damaging Het
Tenm3 T C 8: 48,729,204 (GRCm39) I1601V probably benign Het
Thap4 G T 1: 93,652,934 (GRCm39) Q441K probably benign Het
Tmprss11c G T 5: 86,429,945 (GRCm39) T40K probably benign Het
Tnk1 C T 11: 69,746,017 (GRCm39) probably null Het
Trim65 G T 11: 116,021,503 (GRCm39) T110K possibly damaging Het
Uck1 T C 2: 32,148,315 (GRCm39) D167G probably damaging Het
Vmn2r124 A T 17: 18,269,927 (GRCm39) H61L possibly damaging Het
Xpnpep1 T G 19: 53,001,892 (GRCm39) D118A probably damaging Het
Xylt2 C T 11: 94,560,822 (GRCm39) V239M possibly damaging Het
Other mutations in Rnf216
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02417:Rnf216 APN 5 143,054,665 (GRCm39) missense possibly damaging 0.67
IGL02502:Rnf216 APN 5 143,054,622 (GRCm39) missense probably damaging 1.00
IGL02536:Rnf216 APN 5 143,065,995 (GRCm39) missense probably benign 0.04
IGL03196:Rnf216 APN 5 143,066,766 (GRCm39) missense probably damaging 1.00
PIT4445001:Rnf216 UTSW 5 143,071,758 (GRCm39) missense probably damaging 1.00
R0270:Rnf216 UTSW 5 143,065,996 (GRCm39) missense possibly damaging 0.63
R0422:Rnf216 UTSW 5 143,076,125 (GRCm39) missense probably benign 0.15
R0422:Rnf216 UTSW 5 143,001,409 (GRCm39) nonsense probably null
R0782:Rnf216 UTSW 5 143,054,647 (GRCm39) missense possibly damaging 0.64
R1109:Rnf216 UTSW 5 143,054,124 (GRCm39) missense probably damaging 1.00
R1917:Rnf216 UTSW 5 142,978,561 (GRCm39) missense probably benign 0.03
R2233:Rnf216 UTSW 5 143,076,681 (GRCm39) missense probably benign
R2235:Rnf216 UTSW 5 143,076,681 (GRCm39) missense probably benign
R2340:Rnf216 UTSW 5 143,066,089 (GRCm39) missense probably damaging 0.99
R3015:Rnf216 UTSW 5 143,061,480 (GRCm39) critical splice donor site probably null
R3726:Rnf216 UTSW 5 143,013,701 (GRCm39) missense probably damaging 0.96
R4231:Rnf216 UTSW 5 143,078,845 (GRCm39) missense probably damaging 1.00
R4885:Rnf216 UTSW 5 143,076,335 (GRCm39) nonsense probably null
R4942:Rnf216 UTSW 5 143,078,814 (GRCm39) missense probably damaging 1.00
R4973:Rnf216 UTSW 5 143,076,071 (GRCm39) missense probably benign
R5291:Rnf216 UTSW 5 143,075,967 (GRCm39) missense probably benign
R5307:Rnf216 UTSW 5 143,078,757 (GRCm39) missense probably damaging 1.00
R5328:Rnf216 UTSW 5 143,078,754 (GRCm39) missense possibly damaging 0.84
R5416:Rnf216 UTSW 5 143,001,526 (GRCm39) nonsense probably null
R5888:Rnf216 UTSW 5 143,054,069 (GRCm39) splice site probably null
R6048:Rnf216 UTSW 5 143,054,659 (GRCm39) missense probably damaging 1.00
R6451:Rnf216 UTSW 5 142,978,589 (GRCm39) missense possibly damaging 0.80
R6595:Rnf216 UTSW 5 143,076,412 (GRCm39) missense probably benign 0.00
R7422:Rnf216 UTSW 5 143,076,591 (GRCm39) missense probably benign 0.01
R7470:Rnf216 UTSW 5 142,978,480 (GRCm39) missense possibly damaging 0.88
R7504:Rnf216 UTSW 5 143,061,514 (GRCm39) missense probably benign 0.27
R7507:Rnf216 UTSW 5 143,075,557 (GRCm39) missense probably damaging 1.00
R7695:Rnf216 UTSW 5 143,071,659 (GRCm39) missense possibly damaging 0.80
R7757:Rnf216 UTSW 5 143,065,991 (GRCm39) missense probably damaging 1.00
R7768:Rnf216 UTSW 5 143,084,199 (GRCm39) start codon destroyed probably null 1.00
R8056:Rnf216 UTSW 5 142,978,616 (GRCm39) missense probably benign 0.02
R8081:Rnf216 UTSW 5 143,013,719 (GRCm39) missense probably damaging 0.98
R8985:Rnf216 UTSW 5 143,076,180 (GRCm39) missense probably benign 0.16
Z1176:Rnf216 UTSW 5 143,084,198 (GRCm39) start codon destroyed probably null 0.99
Z1177:Rnf216 UTSW 5 142,978,562 (GRCm39) missense probably benign
Predicted Primers PCR Primer
(F):5'- TCAGAATCATCCTGTGCCCC -3'
(R):5'- ACATGTGGAAATCTTAGGAGGTTG -3'

Sequencing Primer
(F):5'- TCATCCTGTGCCCCAGAAC -3'
(R):5'- GCAGGCATTGATACAGGA -3'
Posted On 2014-10-15