Mutagenetix > Incidental Mutation

Incidental Mutation 'R7470:Rnf216'

579113

Institutional Source

Beutler Lab

Gene Symbol

Rnf216

Ensembl Gene

ENSMUSG00000045078

Gene Name

ring finger protein 216

Synonyms

2810055G22Rik, F830018F18Rik, UIP83, Ubce7ip1

MMRRC Submission

045544-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7470 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

142976648-143098749 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 142978480 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 886 (D886G)

Ref Sequence

ENSEMBL: ENSMUSP00000143705 (fasta)

Gene Model

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

AlphaFold

P58283

Predicted Effect

possibly damaging
Transcript: ENSMUST00000053498
AA Change: D829G

PolyPhen 2 Score 0.811 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000052563
Gene: ENSMUSG00000045078
AA Change: D829G

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

probably benign
Transcript: ENSMUST00000197296

Predicted Effect

probably benign
Transcript: ENSMUST00000200430

Predicted Effect

possibly damaging
Transcript: ENSMUST00000200607
AA Change: D886G

PolyPhen 2 Score 0.885 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000143705
Gene: ENSMUSG00000045078
AA Change: D886G

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 98.9%

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: 84 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930563M21Rik	A	T	9: 55,898,622 (GRCm39)	V238E	possibly damaging	Het
Actn3	G	A	19: 4,917,842 (GRCm39)	S375L	possibly damaging	Het
Adgrg6	T	C	10: 14,319,810 (GRCm39)	T476A	probably benign	Het
Afm	T	A	5: 90,679,486 (GRCm39)	S327T	probably damaging	Het
Apol7e	T	A	15: 77,602,143 (GRCm39)	M247K	probably benign	Het
Aqp12	T	A	1: 92,936,385 (GRCm39)	L237Q	probably damaging	Het
Arhgef12	A	T	9: 42,951,848 (GRCm39)	S63T	probably damaging	Het
Axdnd1	T	A	1: 156,204,086 (GRCm39)	E393V		Het
Cacna1g	T	A	11: 94,352,765 (GRCm39)	D365V	possibly damaging	Het
Ccdc3	T	A	2: 5,143,115 (GRCm39)	V124E	possibly damaging	Het
Ccr7	C	T	11: 99,036,383 (GRCm39)	V180M	possibly damaging	Het
Cd47	T	A	16: 49,704,585 (GRCm39)	I119K		Het
Cenpe	A	T	3: 134,947,916 (GRCm39)	L1158F	probably damaging	Het
Cfi	A	G	3: 129,648,736 (GRCm39)	R207G	probably benign	Het
Cyp2j6	T	C	4: 96,423,708 (GRCm39)	Y220C	probably benign	Het
Ddhd2	A	G	8: 26,225,087 (GRCm39)	F577L	probably benign	Het
Dhx40	T	C	11: 86,667,528 (GRCm39)	E537G	probably damaging	Het
Disp3	A	T	4: 148,345,527 (GRCm39)	C438S	possibly damaging	Het
Dock3	A	G	9: 106,882,644 (GRCm39)	S380P	probably damaging	Het
Ehmt2	A	G	17: 35,118,372 (GRCm39)	E106G	possibly damaging	Het
Fmnl2	A	T	2: 52,932,377 (GRCm39)	I119F	probably damaging	Het
Gm11554	A	C	11: 99,695,190 (GRCm39)	S8A	unknown	Het
Grm7	A	G	6: 111,478,476 (GRCm39)	I54V		Het
Hbs1l	T	C	10: 21,234,683 (GRCm39)	F579L	possibly damaging	Het
Hgf	C	A	5: 16,823,854 (GRCm39)	Q684K	probably benign	Het
Igsf3	T	C	3: 101,358,391 (GRCm39)	Y741H	possibly damaging	Het
Il17rb	C	A	14: 29,719,990 (GRCm39)	G304W	probably damaging	Het
Ino80c	C	T	18: 24,241,895 (GRCm39)	W163*	probably null	Het
Kcnt1	A	C	2: 25,799,845 (GRCm39)	D997A	probably damaging	Het
Klf7	C	T	1: 64,081,472 (GRCm39)		probably null	Het
Lingo1	T	C	9: 56,527,908 (GRCm39)	Y233C	probably damaging	Het
Lmo7	C	A	14: 102,138,040 (GRCm39)	T914K	possibly damaging	Het
Mark1	G	T	1: 184,660,241 (GRCm39)	Y138*	probably null	Het
Mcm3ap	C	A	10: 76,344,231 (GRCm39)	T1791K	probably damaging	Het
Mcts2	T	C	2: 152,529,582 (GRCm39)	I131T	probably benign	Het
Mipep	A	G	14: 61,040,344 (GRCm39)	D288G	probably benign	Het
Ms4a8a	T	A	19: 11,053,714 (GRCm39)	N131Y	possibly damaging	Het
Nalcn	T	C	14: 123,809,456 (GRCm39)	E232G	probably benign	Het
Nat10	C	T	2: 103,565,226 (GRCm39)	A452T	probably benign	Het
Nfatc2	G	A	2: 168,365,227 (GRCm39)	Q596*	probably null	Het
Nudt13	G	T	14: 20,359,791 (GRCm39)	G173W	probably damaging	Het
Or10n1	C	A	9: 39,524,998 (GRCm39)	T45K	probably benign	Het
Or1e16	T	A	11: 73,286,714 (GRCm39)	I45F	probably damaging	Het
Or5l14	A	T	2: 87,792,793 (GRCm39)	C148S	possibly damaging	Het
Or8b4	T	A	9: 37,830,592 (GRCm39)	I213N	probably damaging	Het
Otud4	T	C	8: 80,399,989 (GRCm39)	V901A	probably benign	Het
Pah	G	A	10: 87,399,286 (GRCm39)	R155Q	probably damaging	Het
Pkd1l3	A	G	8: 110,365,008 (GRCm39)	H1130R	probably benign	Het
Pnliprp1	A	G	19: 58,720,457 (GRCm39)	N111S	possibly damaging	Het
Ppp1r21	T	C	17: 88,869,649 (GRCm39)	Y401H	probably damaging	Het
Prr14	A	G	7: 127,074,997 (GRCm39)	K466R	probably null	Het
Ralgapa2	A	G	2: 146,266,587 (GRCm39)	L663P	probably damaging	Het
Reg3d	A	T	6: 78,353,071 (GRCm39)	C171S	possibly damaging	Het
Reln	G	T	5: 22,147,739 (GRCm39)	L2404I	probably damaging	Het
Rnasel	A	C	1: 153,629,777 (GRCm39)	I98L	probably benign	Het
Rp1l1	A	G	14: 64,266,015 (GRCm39)	R534G	probably benign	Het
Selenon	A	C	4: 134,267,061 (GRCm39)	S514A	probably benign	Het
Sema3d	T	A	5: 12,558,152 (GRCm39)	I228N	probably damaging	Het
Serpinb9g	T	A	13: 33,670,617 (GRCm39)	I35N	probably damaging	Het
Siglec1	A	C	2: 130,917,744 (GRCm39)	H1044Q	probably benign	Het
Skint5	T	A	4: 113,614,128 (GRCm39)	I693F	unknown	Het
Skint5	G	T	4: 113,743,000 (GRCm39)	L370M	unknown	Het
Slc12a1	G	A	2: 125,059,815 (GRCm39)	W905*	probably null	Het
Slc26a9	G	C	1: 131,691,781 (GRCm39)	V675L	probably benign	Het
Slc5a7	A	T	17: 54,583,990 (GRCm39)	Y433*	probably null	Het
Slc7a4	A	G	16: 17,392,977 (GRCm39)	I274T	probably benign	Het
Slmap	A	G	14: 26,148,575 (GRCm39)	V612A	probably benign	Het
Spen	T	C	4: 141,206,605 (GRCm39)	D674G	unknown	Het
Ssh1	T	C	5: 114,080,488 (GRCm39)	T981A	possibly damaging	Het
Sycp2l	T	C	13: 41,316,580 (GRCm39)	S180P	probably benign	Het
Tdrd7	C	A	4: 45,990,144 (GRCm39)	S181R	probably benign	Het
Thada	T	C	17: 84,533,469 (GRCm39)	N1661D	probably benign	Het
Tsga13	C	A	6: 30,876,981 (GRCm39)	D179Y	possibly damaging	Het
Ttf2	T	G	3: 100,870,478 (GRCm39)	Q198H	possibly damaging	Het
Ugt2b37	T	G	5: 87,401,971 (GRCm39)	Y220S	probably benign	Het
Unc79	C	T	12: 103,061,235 (GRCm39)	T1145I	probably damaging	Het
Unc80	T	A	1: 66,661,621 (GRCm39)	M1682K	probably benign	Het
Vcp	A	G	4: 42,982,891 (GRCm39)	S652P	probably damaging	Het
Vmn2r-ps158	T	A	7: 42,697,310 (GRCm39)	M789K	probably damaging	Het
Wrnip1	T	A	13: 33,000,310 (GRCm39)	L439*	probably null	Het
Zfhx2	A	G	14: 55,304,207 (GRCm39)	I1259T	possibly damaging	Het
Zfp369	A	T	13: 65,439,960 (GRCm39)	T215S	probably benign	Het
Zfp64	A	T	2: 168,767,731 (GRCm39)	V627E	probably damaging	Het
Zfp873	T	C	10: 81,895,773 (GRCm39)	I168T	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
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
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'- TCCACTTTCGAGAGGGAATGG -3'
(R):5'- ACACCTTCAAACGCATCGGG -3'

Sequencing Primer
(F):5'- GAATGGAGGCCTTCACCCCTAC -3'
(R):5'- CCAGCTGAGAAGGTGCAGC -3'

Posted On

2019-10-07