Mutagenetix > Incidental Mutation

Incidental Mutation 'R4942:Rnf216'

383182

Institutional Source

Beutler Lab

Gene Symbol

Rnf216

Ensembl Gene

ENSMUSG00000045078

Gene Name

ring finger protein 216

Synonyms

2810055G22Rik, F830018F18Rik, UIP83, Ubce7ip1

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4942 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

142976648-143098749 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 143078814 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Arginine at position 45 (M45R)

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: M45R

PolyPhen 2 Score 0.915 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000052563
Gene: ENSMUSG00000045078
AA Change: M45R

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 damaging
Transcript: ENSMUST00000197296
AA Change: M45R

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

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: M45R

PolyPhen 2 Score 0.915 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000143705
Gene: ENSMUSG00000045078
AA Change: M45R

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: 99.0%
3x: 98.2%
10x: 96.0%
20x: 91.6%

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: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
5730522E02Rik	A	G	11: 25,720,472 (GRCm39)		probably null	Het
Adamts7	T	C	9: 90,045,364 (GRCm39)	S23P	probably benign	Het
Adamtsl1	T	A	4: 86,259,451 (GRCm39)	C824*	probably null	Het
Adgre1	A	G	17: 57,713,903 (GRCm39)	Y196C	probably damaging	Het
Arap1	A	G	7: 101,051,009 (GRCm39)	D542G	possibly damaging	Het
B3gat1	A	G	9: 26,666,894 (GRCm39)	D42G	probably benign	Het
Birc6	G	A	17: 74,930,045 (GRCm39)	A2412T	probably damaging	Het
Bnip5	T	C	17: 29,122,232 (GRCm39)	R420G	probably benign	Het
Bsn	A	G	9: 107,983,678 (GRCm39)	Y3459H	unknown	Het
Cacnb1	T	C	11: 97,893,809 (GRCm39)	Y571C	probably damaging	Het
Cdk2ap2	G	A	19: 4,147,508 (GRCm39)		probably null	Het
Cep57	A	G	9: 13,724,723 (GRCm39)	S265P	probably damaging	Het
Clca3a1	A	G	3: 144,710,524 (GRCm39)	I893T	probably benign	Het
Clca3a2	T	A	3: 144,512,263 (GRCm39)	E491V	probably damaging	Het
Cldn10	G	A	14: 119,025,725 (GRCm39)	G53S	possibly damaging	Het
Cobl	A	T	11: 12,204,185 (GRCm39)	I832N	probably damaging	Het
Col9a2	T	C	4: 120,910,316 (GRCm39)	V487A	possibly damaging	Het
Cse1l	C	T	2: 166,771,714 (GRCm39)	T325I	probably damaging	Het
Dlx6	A	G	6: 6,863,468 (GRCm39)	Q30R	probably benign	Het
Dnah8	T	C	17: 30,948,116 (GRCm39)	V1902A	probably benign	Het
Dusp8	A	G	7: 141,635,965 (GRCm39)	F542L	possibly damaging	Het
Emid1	T	G	11: 5,079,430 (GRCm39)	M323L	probably benign	Het
Ercc5	A	G	1: 44,215,125 (GRCm39)	D886G	probably benign	Het
Fam184b	T	C	5: 45,730,649 (GRCm39)	E461G	probably damaging	Het
Fbn1	C	A	2: 125,225,536 (GRCm39)	C572F	possibly damaging	Het
Gigyf1	G	T	5: 137,523,952 (GRCm39)	V1041L	possibly damaging	Het
Grin3b	A	G	10: 79,811,556 (GRCm39)	H714R	probably damaging	Het
Heatr1	A	G	13: 12,428,391 (GRCm39)		probably null	Het
Klk14	G	A	7: 43,341,501 (GRCm39)	C51Y	probably damaging	Het
Llgl1	C	T	11: 60,600,394 (GRCm39)	P581L	probably benign	Het
Lypd6b	C	A	2: 49,836,132 (GRCm39)	H104Q	probably benign	Het
Man1a	A	T	10: 53,809,586 (GRCm39)		probably null	Het
Megf6	A	T	4: 154,338,277 (GRCm39)	D449V	probably damaging	Het
Mtor	T	C	4: 148,556,599 (GRCm39)	V1003A	probably benign	Het
Ncan	C	A	8: 70,552,944 (GRCm39)	W1096L	probably damaging	Het
Ndor1	C	T	2: 25,138,133 (GRCm39)		probably null	Het
Ndufaf1	T	C	2: 119,490,547 (GRCm39)	E171G	possibly damaging	Het
Nell1	T	C	7: 49,770,397 (GRCm39)	V152A	possibly damaging	Het
Nherf4	C	A	9: 44,159,915 (GRCm39)	G402*	probably null	Het
Nt5dc1	A	T	10: 34,198,673 (GRCm39)	V255E	probably damaging	Het
Or2a20	T	A	6: 43,193,928 (GRCm39)	F27Y	probably damaging	Het
Or2y1b	A	T	11: 49,208,375 (GRCm39)	M1L	probably null	Het
Or52h7	A	G	7: 104,214,212 (GRCm39)	I261M	probably benign	Het
Or52z14	G	A	7: 103,253,401 (GRCm39)	R180H	probably benign	Het
Otud7a	T	C	7: 63,407,171 (GRCm39)	I50T	probably damaging	Het
P2ry13	G	A	3: 59,116,983 (GRCm39)	T265I	probably benign	Het
Pde4d	A	G	13: 108,996,733 (GRCm39)	S12G	probably benign	Het
Pigk	C	A	3: 152,450,154 (GRCm39)	N219K	probably damaging	Het
Plcg1	T	A	2: 160,595,509 (GRCm39)		probably null	Het
Psd2	A	T	18: 36,111,717 (GRCm39)	D114V	probably damaging	Het
Ptch1	A	T	13: 63,672,884 (GRCm39)	I770N	probably benign	Het
Ptprq	A	T	10: 107,524,290 (GRCm39)	M481K	probably benign	Het
Rpsa	T	A	9: 119,960,129 (GRCm39)	W231R	probably benign	Het
Ryr1	G	T	7: 28,768,998 (GRCm39)	T2797N	probably damaging	Het
Ryr3	A	T	2: 112,666,602 (GRCm39)	M1468K	probably damaging	Het
Slc6a7	A	G	18: 61,137,589 (GRCm39)	Y244H	probably damaging	Het
Slco6c1	T	A	1: 97,009,049 (GRCm39)	D462V	probably damaging	Het
Spata31d1b	A	T	13: 59,864,917 (GRCm39)	E688D	possibly damaging	Het
Srpra	G	A	9: 35,126,766 (GRCm39)	R508H	probably benign	Het
Tnrc18	A	T	5: 142,773,737 (GRCm39)	I181N	unknown	Het
Tnrc6a	T	C	7: 122,791,836 (GRCm39)	F1785L	probably damaging	Het
Trio	A	T	15: 27,752,811 (GRCm39)	D2174E	probably benign	Het
Ttn	C	T	2: 76,623,600 (GRCm39)	V15326I	probably damaging	Het
Ubap2	T	A	4: 41,245,461 (GRCm39)		probably benign	Het
Vmn2r113	C	T	17: 23,177,321 (GRCm39)	P702S	probably damaging	Het
Vmn2r66	A	T	7: 84,656,980 (GRCm39)	W142R	probably damaging	Het
Vmn2r73	A	G	7: 85,519,582 (GRCm39)	Y459H	probably damaging	Het
Wsb2	C	T	5: 117,515,550 (GRCm39)	T385M	probably damaging	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
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'- AGTTCTGTTATAGTGAGGCACATC -3'
(R):5'- CTGCTTGAGTCTGTGTGCAC -3'

Sequencing Primer
(F):5'- GTGAGGCACATCATATATAATACAGC -3'
(R):5'- GTGCACTTAAGGTGGTAAGTTAAC -3'

Posted On

2016-04-27