Mutagenetix > Incidental Mutation

Incidental Mutation 'R4973:Rnf216'

382371

Institutional Source

Beutler Lab

Gene Symbol

Rnf216

Ensembl Gene

ENSMUSG00000045078

Gene Name

ring finger protein 216

Synonyms

2810055G22Rik, F830018F18Rik, UIP83, Ubce7ip1

MMRRC Submission

042568-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4973 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

142976648-143098749 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 143076071 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 271 (E271G)

Ref Sequence

ENSEMBL: ENSMUSP00000143705 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000053498] [ENSMUST00000197296] [ENSMUST00000200430] [ENSMUST00000200607]

AlphaFold

P58283

Predicted Effect

probably benign
Transcript: ENSMUST00000053498
AA Change: E214G

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000052563
Gene: ENSMUSG00000045078
AA Change: E214G

Domain	Start	End	E-Value	Type
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: ENSMUST00000200430

Predicted Effect

probably benign
Transcript: ENSMUST00000200607
AA Change: E271G

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000143705
Gene: ENSMUSG00000045078
AA Change: E271G

Domain	Start	End	E-Value	Type
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

0.0898

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.8%
20x: 93.9%

Validation Efficiency

97% (115/118)

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: 112 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
6820408C15Rik	T	A	2: 152,282,808 (GRCm39)	I221K	possibly damaging	Het
Abhd16a	T	A	17: 35,321,318 (GRCm39)	S498T	probably benign	Het
Adamts18	G	A	8: 114,463,357 (GRCm39)	R830*	probably null	Het
Ankrd27	A	G	7: 35,332,417 (GRCm39)	D848G	probably benign	Het
Art3	A	G	5: 92,551,478 (GRCm39)	Y279C	probably damaging	Het
Atp2c2	A	G	8: 120,481,002 (GRCm39)	T797A	probably benign	Het
Ccdc121rt1	A	T	1: 181,338,829 (GRCm39)	V41E	possibly damaging	Het
Ccdc122	A	T	14: 77,305,381 (GRCm39)	I12F	possibly damaging	Het
Ccdc154	T	C	17: 25,389,888 (GRCm39)	L508P	probably damaging	Het
Cdk5r2	A	G	1: 74,894,831 (GRCm39)	D192G	probably damaging	Het
Cgn	C	T	3: 94,685,564 (GRCm39)	A320T	probably benign	Het
Cklf	A	G	8: 104,988,184 (GRCm39)	K106E	probably benign	Het
Clec12a	C	A	6: 129,330,628 (GRCm39)	T70K	probably benign	Het
Clock	A	G	5: 76,402,258 (GRCm39)	V134A	possibly damaging	Het
CN725425	G	A	15: 91,129,904 (GRCm39)	A256T	possibly damaging	Het
Csf1r	A	T	18: 61,262,119 (GRCm39)	I792F	probably damaging	Het
Csn1s1	T	G	5: 87,821,120 (GRCm39)	S33A	probably benign	Het
Cspp1	T	A	1: 10,196,688 (GRCm39)	N900K	probably damaging	Het
D5Ertd579e	A	G	5: 36,830,249 (GRCm39)	V25A	probably benign	Het
D630045J12Rik	C	T	6: 38,125,302 (GRCm39)	V1571M	possibly damaging	Het
Ddx5	C	A	11: 106,675,833 (GRCm39)	V286L	possibly damaging	Het
Deup1	G	A	9: 15,523,310 (GRCm39)	Q58*	probably null	Het
Dnhd1	T	G	7: 105,362,840 (GRCm39)	L3801V	probably benign	Het
Dph2	T	A	4: 117,748,527 (GRCm39)	D82V	probably damaging	Het
Ercc6	A	G	14: 32,296,859 (GRCm39)	D1283G	probably damaging	Het
Evi5l	G	T	8: 4,255,406 (GRCm39)	V477L	probably benign	Het
Fam91a1	A	G	15: 58,303,059 (GRCm39)	T323A	probably benign	Het
Fanca	G	A	8: 124,035,261 (GRCm39)	T228M	probably damaging	Het
Fat4	T	G	3: 39,037,195 (GRCm39)	S3616A	probably benign	Het
Fbxo16	G	T	14: 65,558,746 (GRCm39)	A302S	probably benign	Het
Fkbp5	T	C	17: 28,647,343 (GRCm39)	E164G	probably damaging	Het
Fpr-rs3	T	C	17: 20,844,211 (GRCm39)	Y310C	possibly damaging	Het
Fsip2	T	C	2: 82,815,169 (GRCm39)	I3634T	probably benign	Het
Gm6327	T	C	16: 12,578,845 (GRCm39)		noncoding transcript	Het
Gnl3	A	T	14: 30,735,462 (GRCm39)	N411K	possibly damaging	Het
Golga1	A	T	2: 38,929,118 (GRCm39)	D308E	probably damaging	Het
Gpbar1	TACCAC	TAC	1: 74,318,704 (GRCm39)		probably benign	Het
Gsap	A	T	5: 21,459,037 (GRCm39)	T501S	probably benign	Het
Helq	A	G	5: 100,940,737 (GRCm39)		probably benign	Het
Hmcn2	A	G	2: 31,234,108 (GRCm39)	H291R	probably benign	Het
Htt	A	T	5: 34,970,367 (GRCm39)	D505V	probably damaging	Het
Ildr1	C	T	16: 36,528,660 (GRCm39)	T35I	probably benign	Het
Iqgap2	A	G	13: 95,794,305 (GRCm39)		probably null	Het
Kansl1	C	T	11: 104,315,147 (GRCm39)	R297H	probably damaging	Het
Kat2b-ps	T	C	5: 93,539,644 (GRCm39)		noncoding transcript	Het
Kbtbd2	A	G	6: 56,758,943 (GRCm39)	F60S	probably benign	Het
Kcnt2	A	T	1: 140,537,388 (GRCm39)	S1116C	probably damaging	Het
Krt9	C	T	11: 100,079,538 (GRCm39)	G618E	unknown	Het
Lsm5	A	T	6: 56,680,309 (GRCm39)	D44E	probably damaging	Het
Mdn1	A	G	4: 32,734,418 (GRCm39)	D3275G	probably benign	Het
Mindy2	A	T	9: 70,512,453 (GRCm39)	V599E	possibly damaging	Het
Nelfa	A	G	5: 34,059,162 (GRCm39)	V231A	probably benign	Het
Nepro	T	C	16: 44,555,156 (GRCm39)	Y411H	probably benign	Het
Nes	T	A	3: 87,882,983 (GRCm39)	L414Q	probably damaging	Het
Neurl2	T	A	2: 164,675,122 (GRCm39)		probably null	Het
Nkx1-1	G	T	5: 33,588,410 (GRCm39)	Q293K	possibly damaging	Het
Nphp3	C	T	9: 103,909,198 (GRCm39)	H803Y	probably benign	Het
Obscn	A	G	11: 59,023,292 (GRCm39)	V695A	probably damaging	Het
Or10v5	A	G	19: 11,806,300 (GRCm39)	L30P	probably benign	Het
Or12d15	G	A	17: 37,693,910 (GRCm39)	A151T	probably damaging	Het
Or2f1	T	C	6: 42,721,621 (GRCm39)	S217P	probably damaging	Het
Or2t48	T	C	11: 58,419,903 (GRCm39)	E303G	probably benign	Het
Or4c106	T	C	2: 88,682,516 (GRCm39)	V74A	possibly damaging	Het
Or4f17-ps1	T	A	2: 111,357,969 (GRCm39)	F103L	probably damaging	Het
Or4p7	T	A	2: 88,221,674 (GRCm39)	L28I	probably benign	Het
Or7g35	A	G	9: 19,496,504 (GRCm39)	T224A	probably benign	Het
Or8d2b	A	G	9: 38,789,400 (GRCm39)	*309W	probably null	Het
Orai3	T	A	7: 127,373,348 (GRCm39)	L283Q	probably damaging	Het
Pcdhb13	A	T	18: 37,576,237 (GRCm39)	D205V	probably benign	Het
Pdlim5	G	A	3: 142,017,740 (GRCm39)		probably benign	Het
Pdzd2	A	G	15: 12,375,734 (GRCm39)	V1467A	probably damaging	Het
Pgm3	A	G	9: 86,444,732 (GRCm39)	S268P	probably benign	Het
Piezo2	A	T	18: 63,207,751 (GRCm39)	I1420N	probably damaging	Het
Pigp	C	A	16: 94,160,006 (GRCm39)	G134V	probably benign	Het
Pik3c2g	T	C	6: 139,789,657 (GRCm39)	Y385H	possibly damaging	Het
Pnliprp2	G	A	19: 58,754,750 (GRCm39)	E265K	probably benign	Het
Psmd13	T	A	7: 140,466,766 (GRCm39)	Y117*	probably null	Het
Ptprq	C	T	10: 107,522,416 (GRCm39)	V546I	probably damaging	Het
Pum1	T	G	4: 130,396,448 (GRCm39)	S68A	probably benign	Het
Rnf167	T	A	11: 70,540,701 (GRCm39)		probably benign	Het
Rnf213	T	C	11: 119,318,983 (GRCm39)	V1148A	possibly damaging	Het
Ros1	A	T	10: 52,031,087 (GRCm39)	I506N	probably damaging	Het
Rpl37	G	A	15: 5,147,128 (GRCm39)	R56Q	possibly damaging	Het
Rpl41	A	C	10: 128,384,576 (GRCm39)		probably benign	Het
Rttn	A	T	18: 89,060,292 (GRCm39)	H998L	probably damaging	Het
Sacs	G	T	14: 61,450,571 (GRCm39)	A4206S	probably damaging	Het
Slc22a14	CTTTCCTGAA	C	9: 119,003,101 (GRCm39)		probably benign	Het
Slc36a3	T	C	11: 55,037,630 (GRCm39)		probably benign	Het
Slc39a3	A	T	10: 80,866,796 (GRCm39)	W317R	probably damaging	Het
Snd1	C	A	6: 28,884,250 (GRCm39)	Y766*	probably null	Het
Snrpd1	T	C	18: 10,626,835 (GRCm39)	V34A	probably benign	Het
Spire2	T	A	8: 124,083,583 (GRCm39)	I189N	probably damaging	Het
Stard6	A	C	18: 70,631,631 (GRCm39)	D74A	possibly damaging	Het
Sufu	C	T	19: 46,463,991 (GRCm39)	T401I	possibly damaging	Het
Taar7b	T	A	10: 23,876,243 (GRCm39)	F136Y	probably benign	Het
Taf6	G	A	5: 138,181,465 (GRCm39)	Q156*	probably null	Het
Tcp11l2	A	G	10: 84,427,027 (GRCm39)	I164V	probably damaging	Het
Tead4	T	C	6: 128,247,950 (GRCm39)	D29G	probably damaging	Het
Tns4	G	T	11: 98,966,039 (GRCm39)	P448Q	probably damaging	Het
Trappc9	G	T	15: 72,808,905 (GRCm39)	N540K	probably damaging	Het
Trbv28	C	T	6: 41,248,788 (GRCm39)	S106F	probably damaging	Het
Usp16	T	A	16: 87,277,802 (GRCm39)	M684K	probably damaging	Het
Usp45	A	T	4: 21,815,372 (GRCm39)	T362S	probably damaging	Het
Vcan	A	T	13: 89,836,961 (GRCm39)	M2861K	probably benign	Het
Vps8	T	C	16: 21,278,536 (GRCm39)	S267P	probably damaging	Het
Wdfy3	C	T	5: 102,090,985 (GRCm39)	D532N	probably benign	Het
Zbtb34	T	A	2: 33,301,626 (GRCm39)	Q305L	probably benign	Het
Zfp267	C	T	3: 36,218,285 (GRCm39)	R102C	possibly damaging	Het
Zfp352	T	A	4: 90,112,376 (GRCm39)	V172E	probably benign	Het
Zfp454	T	C	11: 50,764,950 (GRCm39)	N161D	probably benign	Het
Zfp804b	A	T	5: 6,821,198 (GRCm39)	S622T	probably damaging	Het
Zswim4	G	T	8: 84,938,852 (GRCm39)	A1010D	probably benign	Het

Other mutations in Rnf216

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH 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
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
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'- ACGTACCGTTTCTTTCACTAACAGTG -3'
(R):5'- TGCCTCAGTAGATGACCAGC -3'

Sequencing Primer
(F):5'- ACAGTGGAATGAGGTCTTGATCTACC -3'
(R):5'- CCTCAGTAGATGACCAGCTAATTGG -3'

Posted On

2016-04-27