Mutagenetix > Incidental Mutation

Incidental Mutation 'R3715:Rnf217'

259860

Institutional Source

Beutler Lab

Gene Symbol

Rnf217

Ensembl Gene

ENSMUSG00000063760

Gene Name

ring finger protein 217

Synonyms

Ibrdc1

MMRRC Submission

040708-MU

Accession Numbers

Essential gene?

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

Stock #

R3715 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

31377883-31485721 bp(-) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

G to T at 31410728 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Stop codon at position 322 (C322*)

Ref Sequence

ENSEMBL: ENSMUSP00000080650 (fasta)

Gene Model

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

AlphaFold

D3YYI7

Predicted Effect

probably null
Transcript: ENSMUST00000081989
AA Change: C322*

SMART Domains

Protein: ENSMUSP00000080650
Gene: ENSMUSG00000063760
AA Change: C322*

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: 99.1%
3x: 98.5%
10x: 97.0%
20x: 94.2%

Validation Efficiency

98% (52/53)

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: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310079G19Rik	T	C	16: 88,424,081 (GRCm39)	M137V	probably benign	Het
9930111J21Rik1	T	C	11: 48,838,803 (GRCm39)	T595A	possibly damaging	Het
Aaas	T	C	15: 102,248,771 (GRCm39)	I236V	probably benign	Het
Abcd4	C	T	12: 84,658,533 (GRCm39)	M223I	probably benign	Het
Adamtsl1	T	A	4: 86,135,213 (GRCm39)	I246N	probably benign	Het
Ak9	A	G	10: 41,233,508 (GRCm39)	D582G	probably damaging	Het
Aqr	A	G	2: 113,949,150 (GRCm39)		probably benign	Het
Bmal2	A	G	6: 146,724,187 (GRCm39)	K360E	probably damaging	Het
Cacna2d3	T	C	14: 29,068,880 (GRCm39)	I282M	probably damaging	Het
Cers3	G	T	7: 66,435,823 (GRCm39)	A261S	probably benign	Het
Dexi	A	T	16: 10,360,553 (GRCm39)	M1K	probably null	Het
Dlat	A	G	9: 50,549,354 (GRCm39)	V510A	probably damaging	Het
Eaf1	T	C	14: 31,224,402 (GRCm39)	I173T	possibly damaging	Het
Elavl3	G	T	9: 21,929,895 (GRCm39)	D336E	probably benign	Het
Epm2a	A	G	10: 11,219,420 (GRCm39)	Y69C	probably benign	Het
Fam168a	A	G	7: 100,473,432 (GRCm39)	N107S	probably damaging	Het
Fam43b	G	C	4: 138,122,409 (GRCm39)	R304G	probably benign	Het
Fras1	T	C	5: 96,793,829 (GRCm39)		probably null	Het
Fscn3	C	T	6: 28,428,091 (GRCm39)	T26I	possibly damaging	Het
Glt8d2	C	A	10: 82,488,571 (GRCm39)	A300S	probably benign	Het
Hcn4	G	A	9: 58,751,319 (GRCm39)	R315H	unknown	Het
Lipk	A	G	19: 34,017,829 (GRCm39)	N289S	probably damaging	Het
Lyg1	G	T	1: 37,989,759 (GRCm39)	R43S	probably damaging	Het
Marchf6	A	G	15: 31,465,405 (GRCm39)	L833P	probably benign	Het
Mc4r	T	A	18: 66,992,892 (GRCm39)	N74Y	probably damaging	Het
Med17	G	A	9: 15,175,062 (GRCm39)		probably benign	Het
Mink1	G	T	11: 70,499,776 (GRCm39)	R773L	possibly damaging	Het
Myo15a	A	T	11: 60,370,057 (GRCm39)	E939V	possibly damaging	Het
Ndst4	A	T	3: 125,355,154 (GRCm39)	H354L	possibly damaging	Het
Or2t26	T	C	11: 49,039,642 (GRCm39)	L186P	probably damaging	Het
Or4c15	A	G	2: 88,759,757 (GRCm39)	W301R	probably benign	Het
Or4p22	C	A	2: 88,317,787 (GRCm39)	T237N	probably damaging	Het
Otof	T	A	5: 30,534,215 (GRCm39)	K1397*	probably null	Het
Rangap1	C	A	15: 81,594,661 (GRCm39)	E389D	probably benign	Het
Rbfox2	A	G	15: 76,983,451 (GRCm39)	I270T	probably damaging	Het
Sbk1	A	G	7: 125,889,183 (GRCm39)	T50A	probably benign	Het
Shmt1	T	C	11: 60,688,402 (GRCm39)	T248A	probably damaging	Het
Smim29	G	A	17: 27,785,043 (GRCm39)		probably benign	Het
Sox30	C	T	11: 45,875,619 (GRCm39)	T457I	probably damaging	Het
Stox2	T	A	8: 47,866,187 (GRCm39)	I52F	possibly damaging	Het
Syncrip	A	T	9: 88,361,738 (GRCm39)		probably benign	Het
Tars3	G	A	7: 65,338,700 (GRCm39)		probably null	Het
Tdrd12	T	C	7: 35,204,405 (GRCm39)	E235G	probably benign	Het
Tmem82	A	T	4: 141,344,945 (GRCm39)		probably null	Het
Tro	T	C	X: 149,437,230 (GRCm39)	T476A	probably damaging	Het
Ttn	G	A	2: 76,561,363 (GRCm39)	P27302S	probably damaging	Het
Ttn	C	T	2: 76,571,610 (GRCm39)	V26428I	probably damaging	Het
Usp53	T	C	3: 122,742,968 (GRCm39)	E656G	probably benign	Het
Vmn2r100	A	G	17: 19,752,272 (GRCm39)	R772G	probably damaging	Het
Xkr5	T	C	8: 18,984,474 (GRCm39)	E190G	probably benign	Het
Zfp236	A	G	18: 82,651,095 (GRCm39)		probably benign	Het
Zfr2	T	G	10: 81,081,913 (GRCm39)	V493G	probably benign	Het
Zp2	A	T	7: 119,741,057 (GRCm39)	S156T	possibly damaging	Het
Zswim5	A	G	4: 116,819,755 (GRCm39)	T387A	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
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
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'- CCCATGTTAAGAATCATGTGGAAC -3'
(R):5'- GCAGGTACAACTTGGCCAAG -3'

Sequencing Primer
(F):5'- TGGAACATCCACTTACCGAGGG -3'
(R):5'- TTGGCCAAGTAGAAATCAAATGCC -3'

Posted On

2015-01-23