Incidental Mutation 'R4231:Rnf216'
ID 320842
Institutional Source Beutler Lab
Gene Symbol Rnf216
Ensembl Gene ENSMUSG00000045078
Gene Name ring finger protein 216
Synonyms 2810055G22Rik, F830018F18Rik, UIP83, Ubce7ip1
MMRRC Submission 041050-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R4231 (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 143078845 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Threonine at position 35 (S35T)
Ref Sequence ENSEMBL: ENSMUSP00000143242 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000053498] [ENSMUST00000197296] [ENSMUST00000200430] [ENSMUST00000200607]
AlphaFold P58283
Predicted Effect possibly damaging
Transcript: ENSMUST00000053498
AA Change: S35T

PolyPhen 2 Score 0.831 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000052563
Gene: ENSMUSG00000045078
AA Change: S35T

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 damaging
Transcript: ENSMUST00000197296
AA Change: S35T

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000198179
Predicted Effect noncoding transcript
Transcript: ENSMUST00000198190
Predicted Effect noncoding transcript
Transcript: ENSMUST00000200002
Predicted Effect probably benign
Transcript: ENSMUST00000200430
Predicted Effect possibly damaging
Transcript: ENSMUST00000200607
AA Change: S35T

PolyPhen 2 Score 0.831 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000143705
Gene: ENSMUSG00000045078
AA Change: S35T

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 0.0757 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 95.2%
Validation Efficiency 99% (75/76)
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: 66 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930567H17Rik C T X: 69,438,135 (GRCm39) A53T probably benign Het
Ajuba T C 14: 54,806,983 (GRCm39) R490G probably damaging Het
Akap6 A T 12: 53,187,821 (GRCm39) D1745V probably damaging Het
Aldh5a1 C T 13: 25,095,636 (GRCm39) G494R probably damaging Het
Ankar T C 1: 72,697,701 (GRCm39) D1034G probably benign Het
Aox3 T A 1: 58,154,044 (GRCm39) N23K probably benign Het
Arhgef18 T C 8: 3,500,317 (GRCm39) I541T possibly damaging Het
Atg14 T C 14: 47,788,802 (GRCm39) K184E probably benign Het
Bltp1 C T 3: 36,974,385 (GRCm39) T663I probably benign Het
Cacnb2 A G 2: 14,986,251 (GRCm39) K343E probably damaging Het
Casp8 T C 1: 58,883,929 (GRCm39) V432A probably damaging Het
Cd93 A T 2: 148,284,880 (GRCm39) H155Q probably benign Het
Cox6b2 T C 7: 4,755,834 (GRCm39) M1V probably null Het
Crat T C 2: 30,303,023 (GRCm39) E88G possibly damaging Het
Ddx1 C T 12: 13,273,858 (GRCm39) V590I possibly damaging Het
Dip2a G A 10: 76,155,304 (GRCm39) P94S probably damaging Het
Dtx3 A G 10: 127,029,058 (GRCm39) I60T possibly damaging Het
Filip1l T C 16: 57,327,131 (GRCm39) S54P probably benign Het
Gm12887 A T 4: 121,479,299 (GRCm39) M1K probably null Het
Gm26678 T C 3: 54,540,504 (GRCm39) noncoding transcript Het
Impg1 A G 9: 80,252,611 (GRCm39) L523P probably damaging Het
Insyn2b A T 11: 34,353,143 (GRCm39) E395V probably benign Het
Ip6k2 G A 9: 108,682,847 (GRCm39) R319Q probably benign Het
Irak2 A G 6: 113,667,817 (GRCm39) E466G probably damaging Het
Irgm2 C T 11: 58,110,304 (GRCm39) probably benign Het
Jak3 T A 8: 72,138,189 (GRCm39) V880D probably damaging Het
Jmy G T 13: 93,635,433 (GRCm39) P128T probably benign Het
Kif20a A G 18: 34,765,091 (GRCm39) N775S probably benign Het
Kremen1 G A 11: 5,193,881 (GRCm39) Q50* probably null Het
Lrrc71 A G 3: 87,648,298 (GRCm39) I438T probably benign Het
Map3k1 T C 13: 111,905,028 (GRCm39) T374A probably benign Het
Med12l T G 3: 59,164,644 (GRCm39) probably null Het
Mrps30 T C 13: 118,523,376 (GRCm39) D132G probably damaging Het
Mta1 T C 12: 113,099,447 (GRCm39) M603T possibly damaging Het
Myo5a A G 9: 75,097,279 (GRCm39) N1319S possibly damaging Het
Nalcn T A 14: 123,837,325 (GRCm39) Q13L probably benign Het
Nbas A G 12: 13,443,344 (GRCm39) N1133S probably damaging Het
Nsun2 A G 13: 69,767,660 (GRCm39) N205D probably damaging Het
Nxpe4 A T 9: 48,310,137 (GRCm39) T467S probably damaging Het
Or13a20 T C 7: 140,232,653 (GRCm39) Y254H probably damaging Het
Or4f17-ps1 C T 2: 111,358,546 (GRCm39) R314C probably damaging Het
Or7g30 T A 9: 19,352,886 (GRCm39) L226I probably damaging Het
Pam A G 1: 97,811,849 (GRCm39) probably null Het
Pcdh7 G A 5: 57,876,631 (GRCm39) G62D possibly damaging Het
Plxna2 C T 1: 194,326,762 (GRCm39) T232I probably damaging Het
Prkar1b A G 5: 139,094,376 (GRCm39) S71P probably benign Het
Ptprq A T 10: 107,522,144 (GRCm39) Y602* probably null Het
Rfx4 A T 10: 84,650,558 (GRCm39) M84L probably benign Het
Rfx7 A T 9: 72,526,672 (GRCm39) E1287D possibly damaging Het
Rin2 C T 2: 145,702,366 (GRCm39) T354I probably benign Het
Rps6kc1 A G 1: 190,541,097 (GRCm39) V402A probably damaging Het
Rufy4 T C 1: 74,186,822 (GRCm39) C537R probably damaging Het
Sart3 A G 5: 113,909,479 (GRCm39) M73T probably benign Het
Scn10a G T 9: 119,460,610 (GRCm39) T1088K probably damaging Het
Senp2 T C 16: 21,830,304 (GRCm39) probably null Het
Setd7 T C 3: 51,450,151 (GRCm39) N92D probably benign Het
Sipa1 A T 19: 5,704,117 (GRCm39) L735Q probably damaging Het
Skint11 C A 4: 114,101,856 (GRCm39) Q99K probably benign Het
Slitrk6 A T 14: 110,988,820 (GRCm39) S296T probably benign Het
Spc24 T C 9: 21,667,498 (GRCm39) probably null Het
Tex15 T C 8: 34,062,165 (GRCm39) S806P probably damaging Het
Tgm3 A T 2: 129,886,509 (GRCm39) K577* probably null Het
Wscd2 A G 5: 113,699,045 (GRCm39) D200G probably benign Het
Xpo6 T C 7: 125,773,354 (GRCm39) T24A possibly damaging Het
Zfhx2 A G 14: 55,310,991 (GRCm39) C568R possibly damaging Het
Zfp599 T A 9: 22,161,041 (GRCm39) K375* probably null 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
R3726:Rnf216 UTSW 5 143,013,701 (GRCm39) missense probably damaging 0.96
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'- GACCACATAGAGCGTTAAAGC -3'
(R):5'- AGAATCTCAGGCATGCACCC -3'

Sequencing Primer
(F):5'- CGTTAAAGCTAAAACACAAGAGGC -3'
(R):5'- TTCTCCCACCTAACATAAAGAGTTG -3'
Posted On 2015-06-12