Mutagenetix > Incidental Mutation

Incidental Mutation 'R4606:Rnf217'

346029

Institutional Source

Beutler Lab

Gene Symbol

Rnf217

Ensembl Gene

ENSMUSG00000063760

Gene Name

ring finger protein 217

Synonyms

Ibrdc1

MMRRC Submission

041817-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.134) question?

Stock #

R4606 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

31377883-31485721 bp(-) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

T to A at 31393472 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Stop codon at position 370 (K370*)

Ref Sequence

ENSEMBL: ENSMUSP00000080650 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000081989]

AlphaFold

D3YYI7

Predicted Effect

probably null
Transcript: ENSMUST00000081989
AA Change: K370*

SMART Domains

Protein: ENSMUSP00000080650
Gene: ENSMUSG00000063760
AA Change: K370*

Domain	Start	End	E-Value	Type
low complexity region	9	23	N/A	INTRINSIC
low complexity region	39	59	N/A	INTRINSIC
low complexity region	97	121	N/A	INTRINSIC
low complexity region	147	191	N/A	INTRINSIC
RING	236	280	2.01e-1	SMART
IBR	301	369	2.66e-16	SMART
IBR	376	447	3.19e-1	SMART
RING	396	425	4.87e0	SMART
transmembrane domain	479	501	N/A	INTRINSIC

Meta Mutation Damage Score

0.9755

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.2%
20x: 95.0%

Validation Efficiency

96% (69/72)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This protein encoded by this gene is a member of the RING1-IBR-RING24 (RBR) ubiquitin protein ligase family, and it belongs to a subfamily of these proteins that contain a transmembrane domain. This protein can interact with the HAX1 anti-apoptotic protein via its C-terminal RING finger motif, which suggests a role in apoptosis signaling. It is thought that deregulation of this gene can be a mechanism in leukemogenesis. Mutations in the region encoding the protein GXXXG motif, which appears to be necessary for protein self-association, have been found in human cancers. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Apr 2016]

Allele List at MGI

Other mutations in this stock

Total: 67 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700011L22Rik	A	T	8: 79,937,374 (GRCm39)	W178R	probably benign	Het
Abcb5	T	C	12: 118,896,345 (GRCm39)		probably null	Het
Akr1b1	C	A	6: 34,283,599 (GRCm39)		probably benign	Het
Arid1a	A	G	4: 133,414,634 (GRCm39)	F1199S	unknown	Het
Atp4b	A	G	8: 13,439,998 (GRCm39)	F116S	probably damaging	Het
Atp6v1b1	T	C	6: 83,729,443 (GRCm39)	S127P	probably damaging	Het
Blk	C	T	14: 63,611,652 (GRCm39)	V428I	probably benign	Het
Ccser1	T	C	6: 61,288,568 (GRCm39)	S244P	probably damaging	Het
Ceacam1	T	A	7: 25,173,951 (GRCm39)	I235F	probably damaging	Het
Cyp2g1	T	A	7: 26,513,579 (GRCm39)	Y173N	possibly damaging	Het
Ddr2	T	A	1: 169,829,421 (GRCm39)	I278F	probably benign	Het
Degs1	T	C	1: 182,104,388 (GRCm39)	D299G	probably damaging	Het
Dip2b	G	A	15: 100,113,210 (GRCm39)	V1542I	possibly damaging	Het
Dmxl1	T	A	18: 50,095,248 (GRCm39)	S2942R	probably damaging	Het
Dpf1	T	A	7: 29,016,015 (GRCm39)		probably benign	Het
Ephb6	A	G	6: 41,593,508 (GRCm39)	Y518C	probably benign	Het
Eps15l1	A	T	8: 73,127,760 (GRCm39)	F606I	possibly damaging	Het
Extl1	A	G	4: 134,098,690 (GRCm39)	S114P	probably damaging	Het
Extl1	A	C	4: 134,098,691 (GRCm39)	D113E	probably benign	Het
Fat1	T	C	8: 45,403,720 (GRCm39)	V157A	possibly damaging	Het
Fcho1	A	T	8: 72,165,124 (GRCm39)	D444E	probably benign	Het
Fgd3	T	A	13: 49,450,036 (GRCm39)	D71V	probably damaging	Het
Fgd5	T	A	6: 91,965,190 (GRCm39)	D316E	possibly damaging	Het
Gys2	A	T	6: 142,400,210 (GRCm39)	F334I	possibly damaging	Het
Ik	G	T	18: 36,886,608 (GRCm39)	R360L	possibly damaging	Het
Kazn	A	C	4: 141,845,599 (GRCm39)		probably null	Het
Kmt2d	A	T	15: 98,737,597 (GRCm39)		probably benign	Het
Krr1	T	C	10: 111,811,582 (GRCm39)		probably benign	Het
Krt87	C	T	15: 101,384,930 (GRCm39)	E389K	probably benign	Het
Lrrc4c	T	C	2: 97,460,658 (GRCm39)	V428A	probably benign	Het
Lvrn	C	A	18: 46,997,832 (GRCm39)	T260K	possibly damaging	Het
Mcc	C	T	18: 44,601,488 (GRCm39)	E614K	probably damaging	Het
Msrb3	A	T	10: 120,685,902 (GRCm39)	V81D	probably damaging	Het
Muc19	C	T	15: 91,832,268 (GRCm39)		noncoding transcript	Het
Myadm	T	A	7: 3,345,916 (GRCm39)	L226*	probably null	Het
Myof	C	T	19: 37,955,547 (GRCm39)	V526M	probably damaging	Het
Nckap5l	A	G	15: 99,327,204 (GRCm39)		probably benign	Het
Or1r1	A	G	11: 73,874,718 (GRCm39)	S239P	probably damaging	Het
Or4b1	G	T	2: 89,979,160 (GRCm39)		probably benign	Het
Or4c35	C	A	2: 89,808,350 (GRCm39)	A76D	possibly damaging	Het
Or9g10	T	A	2: 85,584,284 (GRCm39)		probably benign	Het
Pars2	T	C	4: 106,511,247 (GRCm39)	V307A	probably benign	Het
Pcdhb1	T	G	18: 37,398,581 (GRCm39)	Y177*	probably null	Het
Pcdhb4	T	A	18: 37,441,705 (GRCm39)	D338E	probably damaging	Het
Pik3r2	G	A	8: 71,224,780 (GRCm39)	R199*	probably null	Het
Pla2g4f	C	T	2: 120,144,467 (GRCm39)	R24Q	probably benign	Het
Pnma2	T	C	14: 67,153,681 (GRCm39)	I35T	probably benign	Het
Podn	C	A	4: 107,875,064 (GRCm39)	A568S	probably benign	Het
Pou3f1	A	T	4: 124,552,629 (GRCm39)	E377V	probably damaging	Het
Ppfia1	T	C	7: 144,038,929 (GRCm39)	D494G	probably damaging	Het
Pramel34	A	T	5: 93,784,461 (GRCm39)	D137E	probably damaging	Het
Ptpn9	A	T	9: 56,929,495 (GRCm39)	T71S	possibly damaging	Het
Ptprz1	C	T	6: 23,001,486 (GRCm39)	P1192L	possibly damaging	Het
Rnd2	C	T	11: 101,359,825 (GRCm39)	L57F	probably damaging	Het
Rpap2	G	A	5: 107,749,661 (GRCm39)	V62I	possibly damaging	Het
Scaper	A	T	9: 55,563,187 (GRCm39)		probably null	Het
Sos2	T	C	12: 69,661,380 (GRCm39)		probably benign	Het
Sptbn5	C	T	2: 119,897,927 (GRCm39)		probably null	Het
Sumo1	A	G	1: 59,683,668 (GRCm39)		probably benign	Het
Syne2	C	A	12: 76,036,027 (GRCm39)	N3771K	probably damaging	Het
Tbx18	T	C	9: 87,612,822 (GRCm39)	I26V	possibly damaging	Het
Trpm3	T	A	19: 22,955,988 (GRCm39)	M1140K	probably benign	Het
Usp29	G	A	7: 6,966,356 (GRCm39)		probably null	Het
Wdr7	C	T	18: 63,913,016 (GRCm39)	Q946*	probably null	Het
Ythdf1	T	C	2: 180,553,975 (GRCm39)	D46G	probably damaging	Het
Zfp217	T	C	2: 169,961,670 (GRCm39)	N219S	possibly damaging	Het
Zkscan3	A	G	13: 21,577,953 (GRCm39)	I256T	probably benign	Het

Other mutations in Rnf217

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00837:Rnf217	APN	10	31,379,770 (GRCm39)	missense	probably damaging	0.99
IGL01102:Rnf217	APN	10	31,484,499 (GRCm39)	missense	probably damaging	0.97
IGL02160:Rnf217	APN	10	31,381,767 (GRCm39)	critical splice donor site	probably null
R0582:Rnf217	UTSW	10	31,484,763 (GRCm39)	missense	possibly damaging	0.88
R0825:Rnf217	UTSW	10	31,393,453 (GRCm39)	missense	probably damaging	1.00
R1606:Rnf217	UTSW	10	31,410,807 (GRCm39)	missense	possibly damaging	0.93
R3715:Rnf217	UTSW	10	31,410,728 (GRCm39)	nonsense	probably null
R3809:Rnf217	UTSW	10	31,379,804 (GRCm39)	missense	possibly damaging	0.52
R4533:Rnf217	UTSW	10	31,484,759 (GRCm39)	missense	possibly damaging	0.73
R4937:Rnf217	UTSW	10	31,393,520 (GRCm39)	missense	probably benign
R6683:Rnf217	UTSW	10	31,410,822 (GRCm39)	missense	possibly damaging	0.92
R6940:Rnf217	UTSW	10	31,381,973 (GRCm39)	splice site	probably null
R7751:Rnf217	UTSW	10	31,393,415 (GRCm39)	missense	probably damaging	1.00
R9668:Rnf217	UTSW	10	31,484,402 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TGCTACATGTCCATGCCGTG -3'
(R):5'- AGCAGAGTATTCCTATTTTACTGGG -3'

Sequencing Primer
(F):5'- ACATGTCCATGCCGTGAATACTG -3'
(R):5'- AAGCAATGCTCCTCTGTGG -3'

Posted On

2015-09-25