Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03120:Rnf20'

409956

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Rnf20

Ensembl Gene

ENSMUSG00000028309

Gene Name

ring finger protein 20

Synonyms

4833430L21Rik

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL03120

Quality Score

Status

Chromosome

Chromosomal Location

49632006-49656887 bp(+) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

T to A at 49649955 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000128546 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000029989] [ENSMUST00000156314] [ENSMUST00000167496]

AlphaFold

Q5DTM8

Predicted Effect

probably benign
Transcript: ENSMUST00000029989

SMART Domains

Protein: ENSMUSP00000029989
Gene: ENSMUSG00000028309

Domain	Start	End	E-Value	Type
coiled coil region	45	85	N/A	INTRINSIC
coiled coil region	172	200	N/A	INTRINSIC
coiled coil region	317	378	N/A	INTRINSIC
coiled coil region	429	514	N/A	INTRINSIC
coiled coil region	550	733	N/A	INTRINSIC
coiled coil region	769	805	N/A	INTRINSIC
coiled coil region	828	867	N/A	INTRINSIC
RING	920	958	2e-4	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000131962

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000138490

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000149862

Predicted Effect

probably benign
Transcript: ENSMUST00000156314

SMART Domains

Protein: ENSMUSP00000118293
Gene: ENSMUSG00000028309

Domain	Start	End	E-Value	Type
coiled coil region	45	85	N/A	INTRINSIC
low complexity region	164	172	N/A	INTRINSIC
SCOP:d1gw5a_	174	294	3e-3	SMART
coiled coil region	317	378	N/A	INTRINSIC
coiled coil region	429	514	N/A	INTRINSIC
coiled coil region	550	606	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000167496

SMART Domains

Protein: ENSMUSP00000128546
Gene: ENSMUSG00000028309

Domain	Start	End	E-Value	Type
coiled coil region	45	85	N/A	INTRINSIC
coiled coil region	172	200	N/A	INTRINSIC
coiled coil region	317	378	N/A	INTRINSIC
coiled coil region	429	514	N/A	INTRINSIC
coiled coil region	550	733	N/A	INTRINSIC
coiled coil region	769	805	N/A	INTRINSIC
coiled coil region	828	867	N/A	INTRINSIC
RING	920	958	2e-4	SMART

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene shares similarity with BRE1 of S. cerevisiae. The protein encoded by this human gene is an E3 ubiquitin ligase that regulates chromosome structure by monoubiquitinating histone H2B. This protein acts as a putative tumor suppressor and positively regulates the p53 tumor suppressor as well as numerous histone H2A and H2B genes. In contrast, this protein also suppresses the expression of several protooncogenes and growth-related genes, including many genes that are induced by epidermal growth factor. This gene selectively suppresses the expression of some genes by interfering with chromatin recruitment of transcription elongation factor SII (TFIIS). [provided by RefSeq, Feb 2012]

Allele List at MGI

Other mutations in this stock

Total: 32 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110059G10Rik	A	G	9: 122,778,118 (GRCm39)	L42P	probably benign	Het
Cacna1e	T	C	1: 154,319,627 (GRCm39)	I1420V	probably damaging	Het
Cemip2	G	A	19: 21,801,207 (GRCm39)	D775N	possibly damaging	Het
Corin	T	C	5: 72,518,032 (GRCm39)	Y263C	probably damaging	Het
Cyp4f15	A	T	17: 32,909,738 (GRCm39)	I112F	probably damaging	Het
Dach1	T	C	14: 98,065,225 (GRCm39)	E724G	probably damaging	Het
Dip2b	T	C	15: 100,101,008 (GRCm39)		probably benign	Het
Dnah2	T	A	11: 69,312,674 (GRCm39)	E4297V	probably damaging	Het
Dot1l	A	G	10: 80,622,107 (GRCm39)		probably benign	Het
Endod1	C	A	9: 14,268,331 (GRCm39)	V385F	probably damaging	Het
Etnppl	A	G	3: 130,414,341 (GRCm39)	T73A	probably damaging	Het
Frmd4b	T	A	6: 97,373,206 (GRCm39)	D104V	possibly damaging	Het
Gp5	T	C	16: 30,127,016 (GRCm39)	I553V	possibly damaging	Het
Gpc5	A	G	14: 115,607,556 (GRCm39)	E386G	possibly damaging	Het
Hbb-bs	A	G	7: 103,476,985 (GRCm39)		probably benign	Het
Klra2	T	A	6: 131,197,180 (GRCm39)	Y273F	probably benign	Het
Lrrc37	T	C	11: 103,507,801 (GRCm39)		probably benign	Het
Msto1	A	T	3: 88,818,116 (GRCm39)	V366E	probably damaging	Het
Mtcl1	A	G	17: 66,686,378 (GRCm39)	S843P	probably damaging	Het
Nhsl2	A	G	X: 101,114,939 (GRCm39)	N97S	probably benign	Het
Npm2	C	A	14: 70,890,039 (GRCm39)		probably benign	Het
Npr2	C	T	4: 43,643,133 (GRCm39)	R506C	probably damaging	Het
Olr1	T	C	6: 129,465,898 (GRCm39)	E36G	probably damaging	Het
Or56b2	A	T	7: 104,337,609 (GRCm39)	Y129F	probably benign	Het
Pcdhb19	A	G	18: 37,631,209 (GRCm39)	I335V	probably benign	Het
Pla2g6	T	C	15: 79,171,060 (GRCm39)	D772G	probably damaging	Het
Ppfibp1	C	A	6: 146,899,667 (GRCm39)	D119E	probably benign	Het
Prdm9	T	C	17: 15,765,193 (GRCm39)	N529S	probably benign	Het
Spata31h1	A	G	10: 82,120,869 (GRCm39)	V77A	possibly damaging	Het
Tmem132c	T	A	5: 127,640,448 (GRCm39)	V873E	probably benign	Het
Ttn	T	C	2: 76,757,428 (GRCm39)		probably null	Het
Vmn2r54	A	G	7: 12,349,314 (GRCm39)	I756T	probably damaging	Het

Other mutations in Rnf20

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00467:Rnf20	APN	4	49,655,480 (GRCm39)	nonsense	probably null
IGL01319:Rnf20	APN	4	49,649,326 (GRCm39)	missense	probably damaging	0.99
IGL01666:Rnf20	APN	4	49,654,486 (GRCm39)	nonsense	probably null
IGL01975:Rnf20	APN	4	49,654,473 (GRCm39)	missense	probably benign	0.00
IGL02130:Rnf20	APN	4	49,644,481 (GRCm39)	splice site	probably benign
IGL02179:Rnf20	APN	4	49,638,712 (GRCm39)	missense	probably benign	0.04
IGL03096:Rnf20	APN	4	49,638,615 (GRCm39)	splice site	probably benign
IGL03208:Rnf20	APN	4	49,645,706 (GRCm39)	splice site	probably benign
IGL03257:Rnf20	APN	4	49,645,687 (GRCm39)	missense	probably benign	0.19
IGL03349:Rnf20	APN	4	49,655,936 (GRCm39)	missense	probably damaging	1.00
R0372:Rnf20	UTSW	4	49,650,176 (GRCm39)	missense	possibly damaging	0.53
R0486:Rnf20	UTSW	4	49,645,907 (GRCm39)	missense	possibly damaging	0.57
R0791:Rnf20	UTSW	4	49,638,197 (GRCm39)	missense	possibly damaging	0.92
R0927:Rnf20	UTSW	4	49,642,176 (GRCm39)	missense	probably damaging	1.00
R1256:Rnf20	UTSW	4	49,638,230 (GRCm39)	missense	probably benign	0.33
R1272:Rnf20	UTSW	4	49,651,496 (GRCm39)	missense	probably damaging	0.99
R1460:Rnf20	UTSW	4	49,645,873 (GRCm39)	splice site	probably benign
R1522:Rnf20	UTSW	4	49,638,197 (GRCm39)	missense	possibly damaging	0.92
R1698:Rnf20	UTSW	4	49,651,498 (GRCm39)	nonsense	probably null
R1848:Rnf20	UTSW	4	49,644,628 (GRCm39)	missense	probably damaging	1.00
R2214:Rnf20	UTSW	4	49,648,344 (GRCm39)	missense	possibly damaging	0.77
R2497:Rnf20	UTSW	4	49,652,676 (GRCm39)	splice site	probably null
R2915:Rnf20	UTSW	4	49,638,769 (GRCm39)	missense	probably benign	0.13
R4726:Rnf20	UTSW	4	49,654,579 (GRCm39)	nonsense	probably null
R4770:Rnf20	UTSW	4	49,633,412 (GRCm39)	critical splice donor site	probably null
R4799:Rnf20	UTSW	4	49,649,962 (GRCm39)	critical splice acceptor site	probably null
R4960:Rnf20	UTSW	4	49,638,029 (GRCm39)	missense	probably damaging	0.99
R5022:Rnf20	UTSW	4	49,642,016 (GRCm39)	intron	probably benign
R5146:Rnf20	UTSW	4	49,651,456 (GRCm39)	missense	probably benign	0.21
R5379:Rnf20	UTSW	4	49,652,639 (GRCm39)	missense	possibly damaging	0.47
R5423:Rnf20	UTSW	4	49,644,620 (GRCm39)	missense	probably damaging	0.99
R6297:Rnf20	UTSW	4	49,642,132 (GRCm39)	missense	probably damaging	1.00
R6608:Rnf20	UTSW	4	49,650,051 (GRCm39)	missense	probably benign	0.05
R7064:Rnf20	UTSW	4	49,644,580 (GRCm39)	nonsense	probably null
R7776:Rnf20	UTSW	4	49,644,592 (GRCm39)	nonsense	probably null
R8735:Rnf20	UTSW	4	49,655,964 (GRCm39)	missense	possibly damaging	0.95
R8995:Rnf20	UTSW	4	49,648,437 (GRCm39)	missense	possibly damaging	0.94
R9599:Rnf20	UTSW	4	49,638,751 (GRCm39)	missense	probably benign	0.00
R9661:Rnf20	UTSW	4	49,654,556 (GRCm39)	missense	probably damaging	0.99
Z1177:Rnf20	UTSW	4	49,645,655 (GRCm39)	missense	probably damaging	0.98

Posted On

2016-08-02