Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02366:Rnf220'

290733

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: 0.876) question?

Stock #

IGL02366

Quality Score

Status

Chromosome

Chromosomal Location

117128660-117354249 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 117346980 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 144 (N144S)

Ref Sequence

ENSEMBL: ENSMUSP00000030439 (fasta)

Gene Model

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

AlphaFold

Q6PDX6

Predicted Effect

probably benign
Transcript: ENSMUST00000030439
AA Change: N144S

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000030439
Gene: ENSMUSG00000028677
AA Change: N144S

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

noncoding transcript
Transcript: ENSMUST00000123222

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000138435

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
6030458C11Rik	T	A	15: 12,810,859 (GRCm39)	H339L	probably benign	Het
Abcc1	T	C	16: 14,285,843 (GRCm39)		probably benign	Het
Ankrd55	T	C	13: 112,454,994 (GRCm39)	Y3H	probably damaging	Het
Armcx4	A	C	X: 133,592,261 (GRCm39)	K723T	possibly damaging	Het
Brinp3	T	A	1: 146,577,481 (GRCm39)	V172D	possibly damaging	Het
Cemip	C	T	7: 83,592,849 (GRCm39)	R1226Q	probably benign	Het
Cntn5	A	T	9: 9,984,060 (GRCm39)		probably benign	Het
Cyld	T	C	8: 89,456,381 (GRCm39)	V474A	probably damaging	Het
Dhx40	T	C	11: 86,667,528 (GRCm39)	E537G	probably damaging	Het
Efhc1	A	G	1: 21,030,486 (GRCm39)	N140D	probably damaging	Het
Eif6	A	G	2: 155,668,092 (GRCm39)	V49A	probably benign	Het
Epha4	G	T	1: 77,403,348 (GRCm39)	Y386*	probably null	Het
Ggnbp2	T	C	11: 84,732,427 (GRCm39)	K222R	probably damaging	Het
Gm5117	T	C	8: 32,227,887 (GRCm39)		noncoding transcript	Het
Gm5852	A	T	3: 93,634,568 (GRCm39)		noncoding transcript	Het
Hadha	A	G	5: 30,340,048 (GRCm39)	V243A	probably benign	Het
Hal	A	G	10: 93,339,390 (GRCm39)	N493S	probably damaging	Het
Insrr	A	G	3: 87,717,216 (GRCm39)	T731A	possibly damaging	Het
Irs4	A	T	X: 140,506,900 (GRCm39)	L432H	probably damaging	Het
Kdm4a	T	G	4: 118,017,703 (GRCm39)		probably null	Het
Lhx4	T	C	1: 155,580,934 (GRCm39)	D197G	possibly damaging	Het
Mllt10	T	A	2: 18,069,898 (GRCm39)	M18K	probably damaging	Het
Nars1	T	C	18: 64,636,599 (GRCm39)	T422A	possibly damaging	Het
Ncf2	A	G	1: 152,710,824 (GRCm39)	D445G	probably benign	Het
Ndor1	C	A	2: 25,137,993 (GRCm39)	G544V	possibly damaging	Het
Notch3	C	A	17: 32,363,179 (GRCm39)	R1268L	probably benign	Het
Or51ac3	A	T	7: 103,213,622 (GRCm39)	V288D	probably damaging	Het
Or5b117	T	C	19: 13,431,491 (GRCm39)	Y130C	probably damaging	Het
Or6c202	A	T	10: 128,996,494 (GRCm39)	Y120N	probably damaging	Het
Or8g2	T	C	9: 39,821,288 (GRCm39)	L63P	probably damaging	Het
Osgep	T	C	14: 51,157,407 (GRCm39)	D72G	probably damaging	Het
Pank4	C	T	4: 155,054,085 (GRCm39)	T88I	probably benign	Het
Pcgf6	T	C	19: 47,038,894 (GRCm39)	E122G	possibly damaging	Het
Ppp1r21	A	G	17: 88,855,090 (GRCm39)	H123R	probably damaging	Het
Prex1	A	C	2: 166,422,347 (GRCm39)	L28R	probably damaging	Het
Rbl1	A	T	2: 157,016,813 (GRCm39)	N595K	probably benign	Het
Rnf148	T	C	6: 23,654,058 (GRCm39)	I313V	probably benign	Het
Sbno2	G	A	10: 79,900,036 (GRCm39)	T577I	probably damaging	Het
Sez6	T	C	11: 77,867,708 (GRCm39)	I875T	probably damaging	Het
Slco1a5	A	T	6: 142,195,941 (GRCm39)	V354D	possibly damaging	Het
Slit2	A	T	5: 48,461,410 (GRCm39)	T1486S	possibly damaging	Het
Snd1	T	C	6: 28,707,149 (GRCm39)		probably benign	Het
Sval3	T	C	6: 41,946,659 (GRCm39)		probably benign	Het
Tmem94	T	C	11: 115,688,258 (GRCm39)	L1239P	probably damaging	Het
Trpm6	T	C	19: 18,755,874 (GRCm39)		probably benign	Het
Ttc9	A	C	12: 81,678,384 (GRCm39)	D69A	possibly damaging	Het
Ttn	A	T	2: 76,593,580 (GRCm39)	L20687M	probably benign	Het
Zfp748	T	A	13: 67,693,546 (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
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