Mutagenetix > Incidental Mutation

Incidental Mutation 'R3809:Rnf217'

275115

Institutional Source

Beutler Lab

Gene Symbol

Rnf217

Ensembl Gene

ENSMUSG00000063760

Gene Name

ring finger protein 217

Synonyms

Ibrdc1

MMRRC Submission

040766-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.137) question?

Stock #

R3809 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

31377883-31485721 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 31379804 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Phenylalanine at position 473 (I473F)

Ref Sequence

ENSEMBL: ENSMUSP00000080650 (fasta)

Gene Model

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

AlphaFold

D3YYI7

Predicted Effect

possibly damaging
Transcript: ENSMUST00000081989
AA Change: I473F

PolyPhen 2 Score 0.524 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000080650
Gene: ENSMUSG00000063760
AA Change: I473F

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

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.6%
20x: 95.9%

Validation Efficiency

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: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2700049A03Rik	G	T	12: 71,211,320 (GRCm39)	E685*	probably null	Het
2700049A03Rik	A	T	12: 71,211,321 (GRCm39)	E685V	possibly damaging	Het
3425401B19Rik	T	C	14: 32,385,650 (GRCm39)	Y105C	possibly damaging	Het
Aoc1l3	C	T	6: 48,964,928 (GRCm39)	P312L	possibly damaging	Het
Apol7e	A	T	15: 77,602,262 (GRCm39)	T287S	probably benign	Het
Arhgap12	A	T	18: 6,037,057 (GRCm39)	N561K	probably benign	Het
Armc3	G	T	2: 19,305,476 (GRCm39)	A757S	probably damaging	Het
Baz2b	A	T	2: 59,799,240 (GRCm39)	S295T	probably benign	Het
Brd4	T	A	17: 32,430,244 (GRCm39)	K686N	possibly damaging	Het
Btnl6	T	C	17: 34,727,202 (GRCm39)	T443A	probably benign	Het
Cacna1g	T	C	11: 94,306,922 (GRCm39)	T1801A	probably damaging	Het
Celsr2	G	A	3: 108,310,555 (GRCm39)	T1509I	possibly damaging	Het
Cers1	A	G	8: 70,782,660 (GRCm39)	D10G	possibly damaging	Het
Cntnap3	A	G	13: 64,929,618 (GRCm39)	V527A	probably damaging	Het
Cog1	G	T	11: 113,545,836 (GRCm39)	M370I	probably benign	Het
Col6a6	C	G	9: 105,657,891 (GRCm39)	V774L	probably damaging	Het
Csf1r	T	A	18: 61,245,836 (GRCm39)	S264R	probably benign	Het
Ctnna2	A	T	6: 76,931,740 (GRCm39)	V620D	probably damaging	Het
Eif2b4	A	G	5: 31,348,512 (GRCm39)	S88P	possibly damaging	Het
Frmd4b	G	A	6: 97,300,690 (GRCm39)	L214F	possibly damaging	Het
Fstl1	T	A	16: 37,647,113 (GRCm39)	L161Q	probably damaging	Het
Hdac1	A	G	4: 129,418,113 (GRCm39)	F94S	probably damaging	Het
Hlf	T	C	11: 90,278,929 (GRCm39)	D45G	probably benign	Het
Hps3	A	T	3: 20,072,976 (GRCm39)	M501K	probably damaging	Het
Ighv14-4	A	G	12: 114,140,174 (GRCm39)	Y79H	probably damaging	Het
Ip6k1	T	A	9: 107,923,086 (GRCm39)	V406D	probably damaging	Het
Iqcf1	T	C	9: 106,379,077 (GRCm39)	S29P	probably benign	Het
Itga11	A	G	9: 62,678,664 (GRCm39)	T944A	probably benign	Het
Kcnj12	A	G	11: 60,961,103 (GRCm39)	N467S	probably benign	Het
Klhdc3	T	A	17: 46,988,858 (GRCm39)	N111Y	possibly damaging	Het
Kmt2c	T	C	5: 25,614,136 (GRCm39)	R195G	possibly damaging	Het
Lin9	A	G	1: 180,486,676 (GRCm39)	I81V	probably null	Het
Lrp2	T	C	2: 69,331,892 (GRCm39)	D1621G	probably damaging	Het
Med15	C	T	16: 17,473,598 (GRCm39)		probably benign	Het
Neb	A	G	2: 52,146,801 (GRCm39)	I2821T	possibly damaging	Het
Or14j6	T	C	17: 38,214,464 (GRCm39)	V9A	probably benign	Het
Or2a25	A	T	6: 42,889,271 (GRCm39)	K271N	probably damaging	Het
Or4c112	G	T	2: 88,853,770 (GRCm39)	H192Q	probably benign	Het
Or56b1	A	T	7: 104,285,540 (GRCm39)	I220L	possibly damaging	Het
Or8b3b	C	T	9: 38,584,159 (GRCm39)	V207I	probably benign	Het
Paxip1	A	G	5: 27,977,027 (GRCm39)		probably benign	Het
Pfas	T	C	11: 68,880,779 (GRCm39)		probably benign	Het
Pfdn1	C	T	18: 36,584,145 (GRCm39)	G63D	probably damaging	Het
Pgghg	T	C	7: 140,525,208 (GRCm39)	F405L	probably damaging	Het
Plcd3	T	C	11: 102,992,209 (GRCm39)	M50V	probably null	Het
Plekha8	C	A	6: 54,596,334 (GRCm39)	S198R	probably benign	Het
Ppp4c	C	T	7: 126,386,499 (GRCm39)	G166D	probably damaging	Het
Rassf2	T	C	2: 131,840,180 (GRCm39)		probably null	Het
Sec16a	G	C	2: 26,331,825 (GRCm39)	N63K	possibly damaging	Het
Sik3	A	G	9: 46,130,784 (GRCm39)	D1240G	probably benign	Het
Slamf1	A	G	1: 171,625,745 (GRCm39)	D307G	probably null	Het
Slc2a3	A	G	6: 122,709,388 (GRCm39)	I337T	probably benign	Het
Tent4a	A	G	13: 69,661,115 (GRCm39)	V51A	probably damaging	Het
Tinag	C	T	9: 76,859,187 (GRCm39)	D474N	probably benign	Het
Ublcp1	A	G	11: 44,349,109 (GRCm39)	F242L	probably benign	Het
Ucp1	C	A	8: 84,017,270 (GRCm39)	A20D	probably damaging	Het
Ugt1a7c	C	T	1: 88,023,104 (GRCm39)	R88W	possibly damaging	Het
Wipf3	A	G	6: 54,458,780 (GRCm39)	D45G	probably damaging	Het
Zfp592	G	A	7: 80,674,280 (GRCm39)	A415T	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
R4533:Rnf217	UTSW	10	31,484,759 (GRCm39)	missense	possibly damaging	0.73
R4606:Rnf217	UTSW	10	31,393,472 (GRCm39)	nonsense	probably null
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'- TGTTTTAAGCAAGGCAGAGCAG -3'
(R):5'- CACAGAGACTGAAGCGCATC -3'

Sequencing Primer
(F):5'- TTTTAAGCAAGGCAGAGCAGAAACC -3'
(R):5'- TAGTAAGGGACCTGTGGCTAC -3'

Posted On

2015-04-02