Mutagenetix > Incidental Mutation

Incidental Mutation 'R0784:Rnf220'

76759

Institutional Source

Beutler Lab

Gene Symbol

Rnf220

Ensembl Gene

ENSMUSG00000028677

Gene Name

ring finger protein 220

Synonyms

5730503K05Rik, 4931406I20Rik

MMRRC Submission

038964-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.876) question?

Stock #

R0784 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

117128660-117354249 bp(-) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

C to A at 117135195 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000152367 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000030439] [ENSMUST00000094853] [ENSMUST00000102690] [ENSMUST00000221654]

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

probably benign
Transcript: ENSMUST00000102690

SMART Domains

Protein: ENSMUSP00000099751
Gene: ENSMUSG00000028677

Domain	Start	End	E-Value	Type
low complexity region	68	79	N/A	INTRINSIC
RING	193	231	1.62e-1	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000128122

SMART Domains

Protein: ENSMUSP00000114642
Gene: ENSMUSG00000028677

Domain	Start	End	E-Value	Type
low complexity region	94	105	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000151829

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000221157

Predicted Effect

probably benign
Transcript: ENSMUST00000221654

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000223371

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000223182

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.6%
3x: 98.9%
10x: 96.9%
20x: 92.1%

Validation Efficiency

97% (59/61)

Allele List at MGI

Other mutations in this stock

Total: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acin1	T	C	14: 54,890,985 (GRCm39)		probably benign	Het
Adamts2	C	T	11: 50,558,830 (GRCm39)	R182W	probably damaging	Het
Ahr	C	T	12: 35,558,141 (GRCm39)	G293D	possibly damaging	Het
Akna	G	T	4: 63,295,125 (GRCm39)	T1028K	probably benign	Het
Akp3	G	A	1: 87,055,593 (GRCm39)	G547R	unknown	Het
Aoc1l3	T	A	6: 48,964,235 (GRCm39)	M81K	possibly damaging	Het
Asic2	T	A	11: 80,784,815 (GRCm39)	M324L	possibly damaging	Het
Atf6	A	G	1: 170,537,516 (GRCm39)	F635L	probably benign	Het
Atp8b2	A	T	3: 89,864,380 (GRCm39)	V195E	probably damaging	Het
Bicd1	T	A	6: 149,414,861 (GRCm39)	C525S	probably damaging	Het
Cbfa2t3	A	G	8: 123,377,226 (GRCm39)		probably benign	Het
Cd46	G	A	1: 194,774,502 (GRCm39)	T11M	possibly damaging	Het
Cecr2	A	G	6: 120,735,110 (GRCm39)	H754R	possibly damaging	Het
Clcn3	G	T	8: 61,382,237 (GRCm39)	D450E	probably benign	Het
Cobl	T	G	11: 12,216,843 (GRCm39)		probably benign	Het
Cyba	T	A	8: 123,154,422 (GRCm39)	T34S	probably benign	Het
Dennd1a	A	G	2: 37,911,426 (GRCm39)	L187P	probably damaging	Het
Dennd4c	A	T	4: 86,763,145 (GRCm39)	Q1817L	probably benign	Het
Drosha	T	C	15: 12,867,764 (GRCm39)		probably benign	Het
Dync1li2	A	G	8: 105,169,130 (GRCm39)	S34P	probably damaging	Het
Emilin2	T	A	17: 71,582,282 (GRCm39)	D148V	possibly damaging	Het
Galnt11	A	G	5: 25,463,907 (GRCm39)	D393G	probably damaging	Het
Gm5435	T	A	12: 82,542,954 (GRCm39)		noncoding transcript	Het
Gpr176	C	T	2: 118,203,533 (GRCm39)	V46M	possibly damaging	Het
Gpr85	T	A	6: 13,836,748 (GRCm39)	H52L	probably benign	Het
Grn	T	C	11: 102,325,328 (GRCm39)	M246T	possibly damaging	Het
Hnrnpul2	T	C	19: 8,802,416 (GRCm39)	F428L	possibly damaging	Het
Hoxa13	G	C	6: 52,236,917 (GRCm39)	N278K	probably damaging	Het
Irx5	A	G	8: 93,087,118 (GRCm39)	D350G	probably benign	Het
Kat2a	C	T	11: 100,601,667 (GRCm39)	M249I	probably benign	Het
Klhl29	T	C	12: 5,131,251 (GRCm39)	Y782C	probably damaging	Het
Kmt2c	A	T	5: 25,515,893 (GRCm39)	F2650Y	probably benign	Het
Lrp2	A	G	2: 69,348,709 (GRCm39)	I754T	probably benign	Het
LTO1	A	T	7: 144,473,014 (GRCm39)	Y108F	probably benign	Het
Mpl	G	A	4: 118,303,603 (GRCm39)	P472S	possibly damaging	Het
Mtnr1b	A	G	9: 15,774,081 (GRCm39)	I326T	probably benign	Het
Myh9	A	G	15: 77,661,209 (GRCm39)		probably benign	Het
Mylk	G	C	16: 34,699,845 (GRCm39)	E403Q	possibly damaging	Het
Myo9a	A	G	9: 59,803,828 (GRCm39)		probably benign	Het
Or2z2	T	A	11: 58,346,131 (GRCm39)	I215F	possibly damaging	Het
Or4ac1-ps1	T	A	2: 88,370,511 (GRCm39)		noncoding transcript	Het
Pcsk5	T	C	19: 17,692,133 (GRCm39)	M184V	probably benign	Het
Piezo2	T	A	18: 63,216,306 (GRCm39)	D1143V	probably damaging	Het
Prr36	G	T	8: 4,263,771 (GRCm39)		probably benign	Het
Senp3	A	G	11: 69,571,274 (GRCm39)	L131P	probably damaging	Het
Shc4	A	C	2: 125,499,416 (GRCm39)	W354G	probably benign	Het
Slc6a15	A	G	10: 103,252,661 (GRCm39)		probably benign	Het
Smtnl2	T	C	11: 72,290,763 (GRCm39)	D394G	probably damaging	Het
Sry	G	T	Y: 2,662,731 (GRCm39)	Q310K	unknown	Het
St7l	A	G	3: 104,778,240 (GRCm39)	M126V	probably benign	Het
St8sia3	T	C	18: 64,404,772 (GRCm39)	W350R	probably damaging	Het
Stk35	A	T	2: 129,652,722 (GRCm39)	K408*	probably null	Het
Thsd7b	T	C	1: 129,523,096 (GRCm39)		probably benign	Het
Tmem106b	T	C	6: 13,084,252 (GRCm39)	V252A	probably damaging	Het
Trpm7	A	G	2: 126,687,992 (GRCm39)		probably null	Het
Ttf2	T	C	3: 100,870,026 (GRCm39)	D349G	probably benign	Het
Zfp386	T	A	12: 116,023,540 (GRCm39)	C419*	probably null	Het
Zfp541	A	G	7: 15,816,917 (GRCm39)		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
IGL02245:Rnf220	APN	4	117,156,734 (GRCm39)	splice site	probably benign
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
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

Predicted Primers

PCR Primer
(F):5'- CATGGTGGTCAAGGACAATAGACCC -3'
(R):5'- TGAGCAGAGACAACCTGAAGCTCC -3'

Sequencing Primer
(F):5'- CCCAAGGTTGCAGTAGGAC -3'
(R):5'- ACCAGTAATCACCTGAGTGTCTG -3'

Posted On

2013-10-16