Mutagenetix > Incidental Mutation

Incidental Mutation 'PIT4445001:Rnf216'

555399

Institutional Source

Beutler Lab

Gene Symbol

Rnf216

Ensembl Gene

ENSMUSG00000045078

Gene Name

ring finger protein 216

Synonyms

2810055G22Rik, Ubce7ip1, F830018F18Rik, UIP83

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

PIT4445001 (G1)

Quality Score

217.009

Status

Not validated

Chromosome

Chromosomal Location

142990893-143112994 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 143086003 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Asparagine at position 407 (K407N)

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: K350N

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000052563
Gene: ENSMUSG00000045078
AA Change: K350N

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

probably damaging
Transcript: ENSMUST00000200607
AA Change: K407N

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000143705
Gene: ENSMUSG00000045078
AA Change: K407N

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: 93.5%
3x: 90.8%
10x: 84.5%
20x: 70.9%

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: 73 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca8a	T	C	11: 110,075,551 (GRCm38)	K419E	probably damaging	Het
Adam7	T	A	14: 68,509,748 (GRCm38)	K587N	possibly damaging	Het
Agl	T	C	3: 116,771,460 (GRCm38)	M382V		Het
Agpat3	A	T	10: 78,274,093 (GRCm38)	F341I	possibly damaging	Het
Ampd2	A	T	3: 108,075,012 (GRCm38)	L767Q	probably damaging	Het
Arhgap28	A	T	17: 67,896,235 (GRCm38)	D124E	possibly damaging	Het
Arhgap32	T	C	9: 32,260,856 (GRCm38)	L1644P	probably damaging	Het
Asic4	T	C	1: 75,451,127 (GRCm38)	V99A	probably benign	Het
Asns	T	A	6: 7,689,277 (GRCm38)	N75I	probably damaging	Het
Atp10a	A	G	7: 58,803,467 (GRCm38)	D798G	probably damaging	Het
Atp8a1	A	G	5: 67,622,660 (GRCm38)	V1145A		Het
BC017158	A	G	7: 128,276,534 (GRCm38)	V243A	probably benign	Het
Ccdc171	A	G	4: 83,661,747 (GRCm38)	Q577R	probably damaging	Het
Cd247	T	A	1: 165,861,036 (GRCm38)	D154E	probably damaging	Het
Ceacam1	A	T	7: 25,476,456 (GRCm38)	N104K	probably damaging	Het
Chfr	A	G	5: 110,151,677 (GRCm38)	D312G	possibly damaging	Het
Ddb1	C	A	19: 10,625,970 (GRCm38)	L881I	probably damaging	Het
Dgkh	A	T	14: 78,575,942 (GRCm38)	I1032N	possibly damaging	Het
Efcab6	A	T	15: 83,904,267 (GRCm38)	V942D	probably benign	Het
Fmo5	A	G	3: 97,651,528 (GRCm38)	T435A	probably benign	Het
Fpr1	T	C	17: 17,876,893 (GRCm38)	Q278R	probably benign	Het
Fzr1	C	T	10: 81,369,394 (GRCm38)	W256*	probably null	Het
Gabrb1	T	C	5: 72,108,782 (GRCm38)	S261P	probably damaging	Het
Galr2	G	T	11: 116,281,648 (GRCm38)	A55S	probably benign	Het
Gbp2	A	T	3: 142,637,466 (GRCm38)	K581N	probably benign	Het
Gm7682	T	G	5: 94,448,507 (GRCm38)	W468G	probably benign	Het
Gria1	A	T	11: 57,185,838 (GRCm38)	Y89F	probably damaging	Het
Ibsp	T	A	5: 104,302,304 (GRCm38)	I26N	possibly damaging	Het
Igf1r	T	C	7: 68,207,463 (GRCm38)	F1058L	probably damaging	Het
Ighv1-16	A	C	12: 114,666,060 (GRCm38)	C36G	probably benign	Het
Igll1	T	C	16: 16,860,919 (GRCm38)	T176A	probably benign	Het
Ilkap	T	C	1: 91,385,345 (GRCm38)	T143A	probably benign	Het
Kdm3b	A	T	18: 34,793,115 (GRCm38)	K103*	probably null	Het
Mphosph9	A	G	5: 124,298,790 (GRCm38)	I497T	possibly damaging	Het
Mrgpra3	G	A	7: 47,590,160 (GRCm38)	T6I	possibly damaging	Het
Mrpl38	T	C	11: 116,132,558 (GRCm38)		probably null	Het
Myo3a	A	T	2: 22,542,415 (GRCm38)	E813V	possibly damaging	Het
Myo7b	G	T	18: 31,959,466 (GRCm38)	Q2093K	possibly damaging	Het
Myo7b	T	C	18: 31,962,352 (GRCm38)	K1851R	probably damaging	Het
P3h2	T	A	16: 25,984,999 (GRCm38)	D339V	probably benign	Het
Pcdhb6	C	A	18: 37,335,247 (GRCm38)	P407Q	possibly damaging	Het
Plch2	C	A	4: 155,009,026 (GRCm38)	R153L	probably damaging	Het
Plppr4	G	A	3: 117,360,308 (GRCm38)		probably benign	Het
Ppp1r3a	A	G	6: 14,717,777 (GRCm38)	F1046S	probably damaging	Het
Prkacb	A	T	3: 146,755,691 (GRCm38)	L107M	probably benign	Het
Ranbp17	A	G	11: 33,481,020 (GRCm38)		probably null	Het
Rasl11b	C	A	5: 74,197,333 (GRCm38)	P88Q	probably damaging	Het
Rcc2	A	G	4: 140,721,149 (GRCm38)	E503G	possibly damaging	Het
Scrn3	G	A	2: 73,318,329 (GRCm38)	M81I	possibly damaging	Het
Scube2	T	C	7: 109,809,180 (GRCm38)	T687A	probably benign	Het
Serpinb10	T	A	1: 107,535,998 (GRCm38)	F3L	probably benign	Het
Sgcb	C	T	5: 73,639,812 (GRCm38)	V202I	probably damaging	Het
Sgce	A	G	6: 4,689,654 (GRCm38)	V429A	possibly damaging	Het
Sh3rf2	T	C	18: 42,153,164 (GRCm38)	V574A	probably benign	Het
Sncaip	T	C	18: 52,868,944 (GRCm38)	L179S	probably damaging	Het
Sntg2	A	T	12: 30,312,572 (GRCm38)	D58E	probably damaging	Het
Taar3	T	C	10: 23,949,688 (GRCm38)	I44T	possibly damaging	Het
Tmem87b	G	A	2: 128,831,471 (GRCm38)	V227I	probably benign	Het
Tnfsf9	T	C	17: 57,105,517 (GRCm38)	L29P	possibly damaging	Het
Tnip2	T	C	5: 34,496,871 (GRCm38)	H391R	probably benign	Het
Traf5	A	G	1: 191,997,807 (GRCm38)	Y125H		Het
Ttc23	T	G	7: 67,667,213 (GRCm38)	I77M	probably damaging	Het
Ube2l3	T	C	16: 17,160,172 (GRCm38)	N43S	probably benign	Het
Vars2	A	T	17: 35,666,211 (GRCm38)	C142*	probably null	Het
Vmn2r15	A	C	5: 109,287,142 (GRCm38)	D565E	probably damaging	Het
Vmn2r56	C	T	7: 12,715,226 (GRCm38)		probably null	Het
Vmn2r79	A	T	7: 87,002,200 (GRCm38)	D269V	possibly damaging	Het
Vmn2r85	A	T	10: 130,425,703 (GRCm38)	M255K	probably benign	Het
Wfdc6a	T	A	2: 164,579,826 (GRCm38)	*137C	probably null	Het
Wipi2	T	C	5: 142,666,884 (GRCm38)	V417A	probably benign	Het
Xirp2	G	T	2: 67,509,772 (GRCm38)	V786L	possibly damaging	Het
Zdhhc13	G	A	7: 48,795,949 (GRCm38)	G26S	probably benign	Het
Zscan25	T	A	5: 145,290,612 (GRCm38)	V362D	probably damaging	Het

Other mutations in Rnf216

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02417:Rnf216	APN	5	143,068,910 (GRCm38)	missense	possibly damaging	0.67
IGL02502:Rnf216	APN	5	143,068,867 (GRCm38)	missense	probably damaging	1.00
IGL02536:Rnf216	APN	5	143,080,240 (GRCm38)	missense	probably benign	0.04
IGL03196:Rnf216	APN	5	143,081,011 (GRCm38)	missense	probably damaging	1.00
R0270:Rnf216	UTSW	5	143,080,241 (GRCm38)	missense	possibly damaging	0.63
R0422:Rnf216	UTSW	5	143,090,370 (GRCm38)	missense	probably benign	0.15
R0422:Rnf216	UTSW	5	143,015,654 (GRCm38)	nonsense	probably null
R0782:Rnf216	UTSW	5	143,068,892 (GRCm38)	missense	possibly damaging	0.64
R1109:Rnf216	UTSW	5	143,068,369 (GRCm38)	missense	probably damaging	1.00
R1917:Rnf216	UTSW	5	142,992,806 (GRCm38)	missense	probably benign	0.03
R2233:Rnf216	UTSW	5	143,090,926 (GRCm38)	missense	probably benign
R2234:Rnf216	UTSW	5	143,090,926 (GRCm38)	missense	probably benign
R2235:Rnf216	UTSW	5	143,090,926 (GRCm38)	missense	probably benign
R2340:Rnf216	UTSW	5	143,080,334 (GRCm38)	missense	probably damaging	0.99
R3015:Rnf216	UTSW	5	143,075,725 (GRCm38)	critical splice donor site	probably null
R3726:Rnf216	UTSW	5	143,027,946 (GRCm38)	missense	probably damaging	0.96
R4231:Rnf216	UTSW	5	143,093,090 (GRCm38)	missense	probably damaging	1.00
R4885:Rnf216	UTSW	5	143,090,580 (GRCm38)	nonsense	probably null
R4942:Rnf216	UTSW	5	143,093,059 (GRCm38)	missense	probably damaging	1.00
R4973:Rnf216	UTSW	5	143,090,316 (GRCm38)	missense	probably benign
R5291:Rnf216	UTSW	5	143,090,212 (GRCm38)	missense	probably benign
R5307:Rnf216	UTSW	5	143,093,002 (GRCm38)	missense	probably damaging	1.00
R5328:Rnf216	UTSW	5	143,092,999 (GRCm38)	missense	possibly damaging	0.84
R5416:Rnf216	UTSW	5	143,015,771 (GRCm38)	nonsense	probably null
R5888:Rnf216	UTSW	5	143,068,314 (GRCm38)	splice site	probably null
R6048:Rnf216	UTSW	5	143,068,904 (GRCm38)	missense	probably damaging	1.00
R6451:Rnf216	UTSW	5	142,992,834 (GRCm38)	missense	possibly damaging	0.80
R6595:Rnf216	UTSW	5	143,090,657 (GRCm38)	missense	probably benign	0.00
R7422:Rnf216	UTSW	5	143,090,836 (GRCm38)	missense	probably benign	0.01
R7470:Rnf216	UTSW	5	142,992,725 (GRCm38)	missense	possibly damaging	0.88
R7504:Rnf216	UTSW	5	143,075,759 (GRCm38)	missense	probably benign	0.27
R7507:Rnf216	UTSW	5	143,089,802 (GRCm38)	missense	probably damaging	1.00
R7695:Rnf216	UTSW	5	143,085,904 (GRCm38)	missense	possibly damaging	0.80
R7757:Rnf216	UTSW	5	143,080,236 (GRCm38)	missense	probably damaging	1.00
R7768:Rnf216	UTSW	5	143,098,444 (GRCm38)	start codon destroyed	probably null	1.00
R8056:Rnf216	UTSW	5	142,992,861 (GRCm38)	missense	probably benign	0.02
R8081:Rnf216	UTSW	5	143,027,964 (GRCm38)	missense	probably damaging	0.98
R8985:Rnf216	UTSW	5	143,090,425 (GRCm38)	missense	probably benign	0.16
Z1176:Rnf216	UTSW	5	143,098,443 (GRCm38)	start codon destroyed	probably null	0.99
Z1177:Rnf216	UTSW	5	142,992,807 (GRCm38)	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- TCAGGAGATTCAAGAAATGACCC -3'
(R):5'- GATAGCCTGGGAATCCCTGAAG -3'

Sequencing Primer
(F):5'- GATTCAAGAAATGACCCCAAAAGG -3'
(R):5'- AATCCCTGAAGCTGGGTTAC -3'

Posted On

2019-06-07