Mutagenetix > Incidental Mutation

Incidental Mutation 'R7064:Rnf20'

548435

Institutional Source

Beutler Lab

Gene Symbol

Rnf20

Ensembl Gene

ENSMUSG00000028309

Gene Name

ring finger protein 20

Synonyms

4833430L21Rik

MMRRC Submission

045160-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7064 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

49632006-49656887 bp(+) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

C to T at 49644580 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Stop codon at position 282 (R282*)

Ref Sequence

ENSEMBL: ENSMUSP00000128546 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000029989] [ENSMUST00000146547] [ENSMUST00000156314] [ENSMUST00000167496]

AlphaFold

Q5DTM8

Predicted Effect

probably null
Transcript: ENSMUST00000029989
AA Change: R282*

SMART Domains

Protein: ENSMUSP00000029989
Gene: ENSMUSG00000028309
AA Change: R282*

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

probably benign
Transcript: ENSMUST00000146547

SMART Domains

Protein: ENSMUSP00000120668
Gene: ENSMUSG00000028309

Domain	Start	End	E-Value	Type
coiled coil region	45	85	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000156314
AA Change: R282*

SMART Domains

Protein: ENSMUSP00000118293
Gene: ENSMUSG00000028309
AA Change: R282*

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 null
Transcript: ENSMUST00000167496
AA Change: R282*

SMART Domains

Protein: ENSMUSP00000128546
Gene: ENSMUSG00000028309
AA Change: R282*

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

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.9%

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: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aadat	T	C	8: 60,984,746 (GRCm39)	I263T	probably damaging	Het
Adamtsl1	C	T	4: 86,260,278 (GRCm39)	P830S	possibly damaging	Het
Adrb1	T	C	19: 56,711,456 (GRCm39)	F218S	probably damaging	Het
Ahnak2	T	C	12: 112,746,919 (GRCm39)		probably benign	Het
Arsj	T	A	3: 126,231,986 (GRCm39)	V244E	probably damaging	Het
Atm	T	C	9: 53,419,181 (GRCm39)	E757G	probably benign	Het
AU040320	A	G	4: 126,685,865 (GRCm39)	D147G	probably benign	Het
Btnl10	A	T	11: 58,810,134 (GRCm39)	M92L	possibly damaging	Het
Chd6	T	C	2: 160,791,983 (GRCm39)	D2458G	probably damaging	Het
Cntn3	T	C	6: 102,250,772 (GRCm39)	I259V	probably damaging	Het
Ctns	A	G	11: 73,077,218 (GRCm39)	V250A	probably benign	Het
Cxxc1	T	A	18: 74,353,678 (GRCm39)		probably null	Het
Cyp2a4	A	T	7: 26,011,732 (GRCm39)	M318L	probably benign	Het
Dchs1	A	G	7: 105,412,392 (GRCm39)	L1302P	probably damaging	Het
Decr1	C	A	4: 15,945,392 (GRCm39)			Het
Dmbx1	T	C	4: 115,775,465 (GRCm39)	N272D	probably damaging	Het
Dsel	C	A	1: 111,790,577 (GRCm39)		probably benign	Het
Dspp	A	C	5: 104,324,804 (GRCm39)	D389A	possibly damaging	Het
Ero1a	T	C	14: 45,544,049 (GRCm39)	T52A	probably damaging	Het
Fam186a	T	C	15: 99,839,557 (GRCm39)	E2229G	unknown	Het
Gabrd	C	T	4: 155,472,803 (GRCm39)	V127M	probably damaging	Het
Gpc2	A	T	5: 138,277,172 (GRCm39)	F85Y	probably damaging	Het
Gucy2g	A	G	19: 55,198,764 (GRCm39)	L793S	probably benign	Het
Irag1	C	G	7: 110,495,061 (GRCm39)	E455Q	probably damaging	Het
Itpr3	G	C	17: 27,308,269 (GRCm39)	G298R	probably damaging	Het
Kalrn	A	T	16: 34,038,261 (GRCm39)	C1024S	probably damaging	Het
Krt40	T	C	11: 99,430,954 (GRCm39)	Y185C	probably benign	Het
Lmo7	G	A	14: 102,121,615 (GRCm39)	D227N	probably damaging	Het
Mmrn1	T	A	6: 60,965,524 (GRCm39)	L1184*	probably null	Het
Or10s1	T	A	9: 39,986,109 (GRCm39)	Y173N	probably damaging	Het
Or14j2	T	A	17: 37,885,634 (GRCm39)	R227W	probably damaging	Het
Or4c15	T	A	2: 88,759,853 (GRCm39)	M269L	probably benign	Het
Parp9	T	G	16: 35,774,042 (GRCm39)	V338G	probably benign	Het
Pcdh15	G	A	10: 74,466,446 (GRCm39)	E888K	possibly damaging	Het
Pcdh9	C	T	14: 94,123,585 (GRCm39)	E862K	probably damaging	Het
Prkdc	A	G	16: 15,608,317 (GRCm39)	T3040A	probably benign	Het
Qser1	T	C	2: 104,617,464 (GRCm39)	E1026G	probably damaging	Het
Rpgrip1l	T	A	8: 91,990,148 (GRCm39)	K765*	probably null	Het
Rprd2	G	A	3: 95,672,328 (GRCm39)	T1025M	probably damaging	Het
Scn4a	A	G	11: 106,212,983 (GRCm39)	Y1341H	possibly damaging	Het
Scn5a	C	G	9: 119,318,977 (GRCm39)	D1554H	probably damaging	Het
Septin14	T	C	5: 129,774,870 (GRCm39)	I102V	probably benign	Het
Septin4	A	G	11: 87,481,193 (GRCm39)	T378A	probably benign	Het
Siglec1	C	T	2: 130,925,834 (GRCm39)	G291R	probably benign	Het
Sik2	A	G	9: 50,818,720 (GRCm39)	V418A	probably damaging	Het
Slc9a5	A	G	8: 106,076,078 (GRCm39)	T24A	possibly damaging	Het
Spata31d1b	T	C	13: 59,863,955 (GRCm39)	S368P	probably benign	Het
Stip1	T	C	19: 7,012,925 (GRCm39)	D53G	probably benign	Het
Stk36	T	C	1: 74,649,979 (GRCm39)	W245R	probably damaging	Het
Stk39	A	T	2: 68,189,156 (GRCm39)		probably null	Het
Tacr2	T	C	10: 62,097,276 (GRCm39)	M252T	probably damaging	Het
Tasor	C	T	14: 27,194,288 (GRCm39)	P1163S	probably benign	Het
Terb1	A	T	8: 105,215,186 (GRCm39)	N263K	probably benign	Het
Tgm5	T	C	2: 120,883,995 (GRCm39)	M333V	probably benign	Het
Tmem45a	T	C	16: 56,642,767 (GRCm39)	M135V	probably benign	Het
Trmt13	T	A	3: 116,376,346 (GRCm39)	K348N	probably damaging	Het
Trmt2a	A	T	16: 18,070,868 (GRCm39)	M534L	probably damaging	Het
Ttll13	G	A	7: 79,906,778 (GRCm39)	R513K	probably null	Het
Vmn1r228	T	A	17: 20,997,285 (GRCm39)	I78L	probably benign	Het
Washc3	T	C	10: 88,081,635 (GRCm39)	V173A	possibly damaging	Het
Zc2hc1b	A	T	10: 13,047,049 (GRCm39)	C21S	probably damaging	Het
Zfp944	T	A	17: 22,558,560 (GRCm39)	H229L	probably damaging	Het
Zfp985	T	A	4: 147,667,573 (GRCm39)	I147N	probably benign	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
IGL03120:Rnf20	APN	4	49,649,955 (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
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

Predicted Primers

PCR Primer
(F):5'- CCTGTAGCAGTCTAAGAACTTTTC -3'
(R):5'- GGGATCTAATACCCTCTTCTGGCC -3'

Sequencing Primer
(F):5'- TGTGAGCAAGGACTAATTTTATGG -3'
(R):5'- TCTTCTGGCCTCCACAGG -3'

Posted On

2019-05-13