Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02245:Rnf220'

286174

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Rnf220

Ensembl Gene

ENSMUSG00000028677

Gene Name

ring finger protein 220

Synonyms

5730503K05Rik, 4931406I20Rik

Accession Numbers

Essential gene?

Probably essential (E-score: 0.896) question?

Stock #

IGL02245

Quality Score

Status

Chromosome

Chromosomal Location

117128660-117354249 bp(-) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

C to T at 117156734 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000092449 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000030439] [ENSMUST00000094853]

AlphaFold

Q6PDX6

Predicted Effect

probably benign
Transcript: ENSMUST00000030439

SMART Domains

Protein: ENSMUSP00000030439
Gene: ENSMUSG00000028677

Domain	Start	End	E-Value	Type
Pfam:RNF220	217	339	3.5e-38	PFAM
Pfam:RNF220	325	444	4.9e-51	PFAM
RING	514	552	1.62e-1	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000094853

SMART Domains

Protein: ENSMUSP00000092449
Gene: ENSMUSG00000028677

Domain	Start	End	E-Value	Type
low complexity region	176	187	N/A	INTRINSIC
RING	301	339	1.62e-1	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000137607

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000139618

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000150148

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
3425401B19Rik	T	C	14: 32,381,772 (GRCm39)	I1398V	probably benign	Het
Abca5	G	A	11: 110,188,995 (GRCm39)	Q821*	probably null	Het
Bcl9	A	T	3: 97,116,009 (GRCm39)	L895Q	probably damaging	Het
Cpne7	A	G	8: 123,844,357 (GRCm39)	D41G	probably damaging	Het
Daxx	A	G	17: 34,131,351 (GRCm39)		probably benign	Het
Dbx2	A	G	15: 95,522,628 (GRCm39)	Y360H	probably damaging	Het
Dpy19l2	T	C	9: 24,607,321 (GRCm39)	T47A	probably benign	Het
Ephb3	T	C	16: 21,040,174 (GRCm39)	V512A	probably benign	Het
Exoc2	T	C	13: 31,090,842 (GRCm39)	D254G	probably benign	Het
Gtpbp1	G	T	15: 79,575,127 (GRCm39)	R7L	probably benign	Het
Gucy2c	A	T	6: 136,706,201 (GRCm39)	I500N	probably benign	Het
H2ac6	A	T	13: 23,867,783 (GRCm39)	Y40N	probably damaging	Het
H2ac6	G	T	13: 23,867,784 (GRCm39)	N39K	possibly damaging	Het
Hormad2	T	C	11: 4,358,580 (GRCm39)		probably benign	Het
Impg2	A	G	16: 56,089,445 (GRCm39)	Q1130R	probably damaging	Het
Itga4	T	A	2: 79,150,903 (GRCm39)	D836E	probably benign	Het
Loxhd1	A	T	18: 77,427,797 (GRCm39)	T456S	possibly damaging	Het
Lyst	G	A	13: 13,835,541 (GRCm39)	C1741Y	probably benign	Het
Map1b	T	C	13: 99,568,036 (GRCm39)	T1562A	unknown	Het
Mre11a	C	T	9: 14,726,572 (GRCm39)		probably benign	Het
Myh1	A	C	11: 67,102,313 (GRCm39)	E868A	possibly damaging	Het
Nlrp4e	T	G	7: 23,020,300 (GRCm39)	S262R	probably damaging	Het
Nlrp9a	C	T	7: 26,257,318 (GRCm39)	T223I	probably benign	Het
Nosip	A	G	7: 44,723,466 (GRCm39)	D44G	probably benign	Het
Nr6a1	C	T	2: 38,630,565 (GRCm39)	M217I	probably benign	Het
Numa1	A	G	7: 101,649,601 (GRCm39)	T1111A	probably benign	Het
Or6c6c	T	A	10: 129,541,608 (GRCm39)	I287N	probably damaging	Het
Pms1	A	G	1: 53,246,519 (GRCm39)	L340P	probably damaging	Het
Prmt7	T	C	8: 106,963,937 (GRCm39)	V277A	probably benign	Het
Pxmp4	T	C	2: 154,429,870 (GRCm39)	Y173C	probably damaging	Het
Rbm11	G	T	16: 75,389,896 (GRCm39)	V21L	possibly damaging	Het
Rims1	A	G	1: 22,416,712 (GRCm39)	S1123P	probably damaging	Het
Rnf41	T	G	10: 128,273,196 (GRCm39)	*123G	probably null	Het
Samhd1	C	T	2: 156,952,475 (GRCm39)	D426N	possibly damaging	Het
Scn10a	A	G	9: 119,501,218 (GRCm39)	W189R	probably damaging	Het
Slco1a6	A	G	6: 142,055,150 (GRCm39)	F265L	probably damaging	Het
Spag16	A	G	1: 69,897,661 (GRCm39)	D137G	probably benign	Het
Srsf12	G	A	4: 33,209,103 (GRCm39)		probably benign	Het
Suclg2	A	G	6: 95,572,722 (GRCm39)	I81T	possibly damaging	Het
Tmc1	C	T	19: 20,776,556 (GRCm39)	R601H	probably damaging	Het
Trim33	T	C	3: 103,254,086 (GRCm39)		probably null	Het
Vit	A	G	17: 78,932,480 (GRCm39)	D529G	probably damaging	Het
Wbp1l	C	T	19: 46,643,057 (GRCm39)	H353Y	possibly damaging	Het
Wdr70	A	T	15: 8,075,965 (GRCm39)	V170D	possibly damaging	Het
Ythdc2	T	A	18: 44,995,751 (GRCm39)	I947N	possibly damaging	Het
Zfp280b	T	C	10: 75,875,197 (GRCm39)	S359P	probably benign	Het
Zfp936	T	C	7: 42,836,722 (GRCm39)		probably null	Het
Zscan4d	T	A	7: 10,896,716 (GRCm39)	Y218F	probably benign	Het

Other mutations in Rnf220

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00940:Rnf220	APN	4	117,164,872 (GRCm39)	missense	probably benign	0.02
IGL01345:Rnf220	APN	4	117,130,467 (GRCm39)	nonsense	probably null
IGL02097:Rnf220	APN	4	117,130,524 (GRCm39)	missense	probably benign	0.00
IGL02366:Rnf220	APN	4	117,346,980 (GRCm39)	missense	probably benign
IGL02725:Rnf220	APN	4	117,129,576 (GRCm39)	splice site	probably benign
IGL02801:Rnf220	APN	4	117,130,448 (GRCm39)	missense	probably damaging	1.00
IGL02963:Rnf220	APN	4	117,347,389 (GRCm39)	missense	probably damaging	0.97
BB007:Rnf220	UTSW	4	117,164,787 (GRCm39)	missense	probably damaging	0.99
BB017:Rnf220	UTSW	4	117,164,787 (GRCm39)	missense	probably damaging	0.99
PIT4131001:Rnf220	UTSW	4	117,134,566 (GRCm39)	critical splice donor site	probably null
R0041:Rnf220	UTSW	4	117,130,481 (GRCm39)	missense	probably damaging	1.00
R0784:Rnf220	UTSW	4	117,135,195 (GRCm39)	splice site	probably benign
R1107:Rnf220	UTSW	4	117,142,587 (GRCm39)	missense	probably damaging	1.00
R1122:Rnf220	UTSW	4	117,135,277 (GRCm39)	missense	probably benign	0.01
R1231:Rnf220	UTSW	4	117,347,081 (GRCm39)	missense	probably damaging	0.98
R1708:Rnf220	UTSW	4	117,347,083 (GRCm39)	missense	probably benign	0.00
R1794:Rnf220	UTSW	4	117,164,765 (GRCm39)	missense	probably benign
R4488:Rnf220	UTSW	4	117,347,011 (GRCm39)	missense	probably damaging	1.00
R4710:Rnf220	UTSW	4	117,146,411 (GRCm39)	unclassified	probably benign
R4790:Rnf220	UTSW	4	117,146,252 (GRCm39)	missense	probably benign	0.45
R4923:Rnf220	UTSW	4	117,346,797 (GRCm39)	missense	possibly damaging	0.71
R5173:Rnf220	UTSW	4	117,146,471 (GRCm39)	start gained	probably benign
R5334:Rnf220	UTSW	4	117,129,548 (GRCm39)	missense	probably damaging	1.00
R5505:Rnf220	UTSW	4	117,153,288 (GRCm39)	intron	probably benign
R5849:Rnf220	UTSW	4	117,134,809 (GRCm39)	missense	possibly damaging	0.92
R7075:Rnf220	UTSW	4	117,143,079 (GRCm39)	missense	probably benign	0.28
R7349:Rnf220	UTSW	4	117,135,015 (GRCm39)	missense	probably damaging	0.99
R7478:Rnf220	UTSW	4	117,153,333 (GRCm39)	missense	possibly damaging	0.94
R7541:Rnf220	UTSW	4	117,347,127 (GRCm39)	missense	probably damaging	1.00
R7930:Rnf220	UTSW	4	117,164,787 (GRCm39)	missense	probably damaging	0.99
R8030:Rnf220	UTSW	4	117,135,025 (GRCm39)	missense	probably damaging	1.00
R8202:Rnf220	UTSW	4	117,347,070 (GRCm39)	missense	probably damaging	1.00
R8701:Rnf220	UTSW	4	117,347,190 (GRCm39)	missense	probably damaging	0.99
R9268:Rnf220	UTSW	4	117,346,833 (GRCm39)	missense	probably benign	0.09
R9452:Rnf220	UTSW	4	117,153,339 (GRCm39)	missense	probably benign	0.08

Posted On

2015-04-16