Incidental Mutation 'R3726:Rnf216'
ID 270785
Institutional Source Beutler Lab
Gene Symbol Rnf216
Ensembl Gene ENSMUSG00000045078
Gene Name ring finger protein 216
Synonyms 2810055G22Rik, F830018F18Rik, UIP83, Ubce7ip1
MMRRC Submission 040717-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R3726 (G1)
Quality Score 225
Status Validated
Chromosome 5
Chromosomal Location 142976648-143098749 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 143013701 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Asparagine at position 708 (I708N)
Ref Sequence ENSEMBL: ENSMUSP00000143705 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000053498] [ENSMUST00000197296] [ENSMUST00000200430] [ENSMUST00000200607]
AlphaFold P58283
Predicted Effect probably damaging
Transcript: ENSMUST00000053498
AA Change: I651N

PolyPhen 2 Score 0.960 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000052563
Gene: ENSMUSG00000045078
AA Change: I651N

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: ENSMUST00000197296
Predicted Effect probably benign
Transcript: ENSMUST00000200430
Predicted Effect probably damaging
Transcript: ENSMUST00000200607
AA Change: I708N

PolyPhen 2 Score 0.960 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000143705
Gene: ENSMUSG00000045078
AA Change: I708N

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
Meta Mutation Damage Score 0.1414 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.5%
  • 10x: 97.2%
  • 20x: 94.9%
Validation Efficiency 100% (49/49)
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: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930402K13Rik AGAGGAG AGAG X: 8,971,342 (GRCm39) probably benign Het
Caap1 A T 4: 94,389,380 (GRCm39) V318D probably damaging Het
Camsap3 T C 8: 3,653,785 (GRCm39) L485P probably damaging Het
Ccsap T C 8: 124,586,100 (GRCm39) E17G possibly damaging Het
Cdk5rap2 C A 4: 70,153,674 (GRCm39) K1716N possibly damaging Het
Coq3 T C 4: 21,892,941 (GRCm39) probably benign Het
Daam2 T A 17: 49,776,766 (GRCm39) D773V probably damaging Het
F11 A G 8: 45,701,675 (GRCm39) S353P probably damaging Het
Fam209 T C 2: 172,315,915 (GRCm39) S97P probably benign Het
Fam50b G A 13: 34,930,869 (GRCm39) R115H probably damaging Het
Fbxo31 A G 8: 122,305,248 (GRCm39) F83L probably damaging Het
Fsip2 G T 2: 82,819,311 (GRCm39) A5015S possibly damaging Het
Galnt13 A G 2: 54,988,669 (GRCm39) H497R probably damaging Het
Ggnbp2 A G 11: 84,744,920 (GRCm39) C201R possibly damaging Het
Gm8730 T C 8: 103,591,664 (GRCm39) noncoding transcript Het
Gsr A G 8: 34,161,565 (GRCm39) K124R probably benign Het
Hdgf T C 3: 87,821,804 (GRCm39) S140P probably benign Het
Iqcg C T 16: 32,849,411 (GRCm39) E292K probably damaging Het
Lamb1 C T 12: 31,371,074 (GRCm39) A1375V probably null Het
Lct T C 1: 128,231,963 (GRCm39) M629V probably damaging Het
Lonp1 A G 17: 56,925,310 (GRCm39) probably benign Het
Mrc2 G A 11: 105,239,257 (GRCm39) probably null Het
Or6c212 A T 10: 129,558,984 (GRCm39) V143D probably damaging Het
Pcdhb9 T C 18: 37,534,654 (GRCm39) L216P possibly damaging Het
Ppp3cb A G 14: 20,581,010 (GRCm39) probably null Het
Ptprm G A 17: 67,263,855 (GRCm39) P464L possibly damaging Het
Rars2 A G 4: 34,645,787 (GRCm39) T235A probably benign Het
Rimkla A T 4: 119,334,986 (GRCm39) probably null Het
Six5 T A 7: 18,830,855 (GRCm39) V494E possibly damaging Het
Slc43a2 A G 11: 75,433,980 (GRCm39) probably benign Het
Slmap C A 14: 26,148,397 (GRCm39) R671S probably damaging Het
Smarcal1 T C 1: 72,665,755 (GRCm39) F751S possibly damaging Het
Sptan1 G A 2: 29,908,431 (GRCm39) D1711N possibly damaging Het
Sptssa T C 12: 54,703,180 (GRCm39) E30G probably damaging Het
Taf1c A G 8: 120,329,809 (GRCm39) F111L probably damaging Het
Thbs1 A G 2: 117,945,191 (GRCm39) I255V probably benign Het
Tmem19 A G 10: 115,195,675 (GRCm39) probably benign Het
Tmem59l A G 8: 70,939,951 (GRCm39) L6S unknown Het
Tmod1 T C 4: 46,097,026 (GRCm39) V273A probably benign Het
Trpm8 A T 1: 88,255,918 (GRCm39) Y191F probably benign Het
Ube4a T C 9: 44,844,621 (GRCm39) I934V probably damaging Het
Vpreb3 G A 10: 75,779,125 (GRCm39) probably null Het
Vwf G T 6: 125,654,911 (GRCm39) probably benign Het
Wdr53 T C 16: 32,075,538 (GRCm39) C248R probably benign Het
Zfp217 A G 2: 169,961,130 (GRCm39) V399A probably damaging Het
Zfp980 G A 4: 145,428,653 (GRCm39) G461S probably benign 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
R2234: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
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'- GCAACATCAGTGCTATAAGACCTG -3'
(R):5'- TGCTCGTTGGGACATTTCAC -3'

Sequencing Primer
(F):5'- CATCAGTGCTATAAGACCTGTTACC -3'
(R):5'- GGGACATTTCACAGGCATTG -3'
Posted On 2015-03-18