Mutagenetix > Incidental Mutation

Incidental Mutation 'R4799:Rnf20'

369307

Institutional Source

Beutler Lab

Gene Symbol

Rnf20

Ensembl Gene

ENSMUSG00000028309

Gene Name

ring finger protein 20

Synonyms

4833430L21Rik

MMRRC Submission

041997-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R4799 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

49632006-49656887 bp(+) (GRCm39)

Type of Mutation

critical splice acceptor site

DNA Base Change (assembly)

G to C at 49649962 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 null
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 null
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 null
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

Meta Mutation Damage Score

0.9594

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 96.4%
20x: 92.6%

Validation Efficiency

97% (122/126)

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: 119 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abhd12b	C	G	12: 70,215,838 (GRCm39)	S170C	probably damaging	Het
Acads	T	A	5: 115,251,149 (GRCm39)	T112S	probably benign	Het
Adgrl1	A	G	8: 84,662,202 (GRCm39)	H1021R	probably benign	Het
Ago3	A	T	4: 126,241,665 (GRCm39)		probably null	Het
Ap5m1	A	G	14: 49,318,527 (GRCm39)	K412E	probably benign	Het
Arid1b	C	T	17: 5,389,496 (GRCm39)	P1681S	probably damaging	Het
Atxn10	T	C	15: 85,260,909 (GRCm39)		probably null	Het
AU040320	A	G	4: 126,733,462 (GRCm39)	T661A	probably benign	Het
Bhmt1b	C	A	18: 87,774,573 (GRCm39)	A32E	probably damaging	Het
Capn7	T	C	14: 31,082,514 (GRCm39)	I455M	probably benign	Het
Capzb	A	G	4: 138,920,310 (GRCm39)		probably benign	Het
Car10	G	A	11: 93,469,492 (GRCm39)	V156I	possibly damaging	Het
Cbs	T	A	17: 31,851,826 (GRCm39)	D59V	probably damaging	Het
Ccar2	T	C	14: 70,377,003 (GRCm39)	E819G	probably damaging	Het
Cdc73	T	A	1: 143,503,613 (GRCm39)	Q346L	probably benign	Het
Cdhr4	T	C	9: 107,875,898 (GRCm39)		probably benign	Het
Cfap251	C	T	5: 123,440,835 (GRCm39)	H1131Y	probably benign	Het
Chd2	A	T	7: 73,134,184 (GRCm39)	M721K	possibly damaging	Het
Cntnap5b	G	A	1: 100,286,450 (GRCm39)	G402R	probably benign	Het
Cps1	T	C	1: 67,182,145 (GRCm39)	Y120H	probably damaging	Het
Csf2	T	C	11: 54,140,306 (GRCm39)	D44G	probably benign	Het
Cubn	T	A	2: 13,291,835 (GRCm39)	Q3330L	possibly damaging	Het
Cubn	A	G	2: 13,355,869 (GRCm39)	S1788P	probably damaging	Het
Cul9	T	C	17: 46,811,770 (GRCm39)	D2486G	possibly damaging	Het
Cyp2c40	A	T	19: 39,762,293 (GRCm39)	S451R	probably damaging	Het
Cyp51	T	A	5: 4,133,256 (GRCm39)	T461S	probably damaging	Het
Cyth1	T	C	11: 118,074,768 (GRCm39)	M164V	probably damaging	Het
D130043K22Rik	T	C	13: 25,062,023 (GRCm39)	I664T	probably damaging	Het
Ddc	T	C	11: 11,796,632 (GRCm39)		probably null	Het
Ddx21	A	T	10: 62,423,900 (GRCm39)	D589E	probably damaging	Het
Dgkb	C	T	12: 38,164,567 (GRCm39)	R113C	possibly damaging	Het
Dglucy	A	T	12: 100,816,602 (GRCm39)	M415L	probably benign	Het
Efnb2	A	T	8: 8,673,104 (GRCm39)		probably null	Het
Elp4	T	A	2: 105,639,612 (GRCm39)	Q189L	probably damaging	Het
Enpp2	T	C	15: 54,773,490 (GRCm39)	N77S	probably damaging	Het
Eps15	G	A	4: 109,223,727 (GRCm39)		probably benign	Het
F2rl1	G	A	13: 95,650,477 (GRCm39)	S135F	possibly damaging	Het
Fam133b	T	C	5: 3,607,815 (GRCm39)	M65T	probably damaging	Het
Fanca	A	G	8: 124,014,941 (GRCm39)	V689A	probably damaging	Het
Fbh1	C	T	2: 11,760,558 (GRCm39)	C79Y	probably damaging	Het
Fbxw7	C	T	3: 84,811,168 (GRCm39)	Q98*	probably null	Het
Flrt3	T	C	2: 140,502,086 (GRCm39)	N514S	probably damaging	Het
Foxj3	A	T	4: 119,478,857 (GRCm39)	S438C	unknown	Het
Gcm2	T	C	13: 41,256,970 (GRCm39)	K260E	possibly damaging	Het
Gm12863	C	T	4: 118,811,685 (GRCm39)		noncoding transcript	Het
Gpnmb	G	T	6: 49,022,417 (GRCm39)		probably null	Het
Gsap	C	A	5: 21,455,941 (GRCm39)	N379K	probably benign	Het
Hsd3b1	T	A	3: 98,760,181 (GRCm39)	Y270F	probably benign	Het
Ift70a2	T	A	2: 75,807,729 (GRCm39)	Y261F	probably benign	Het
Il22	C	A	10: 118,041,058 (GRCm39)	R55S	probably damaging	Het
Kcnd3	C	T	3: 105,566,082 (GRCm39)	A421V	probably damaging	Het
Klhdc3	T	C	17: 46,988,226 (GRCm39)	R180G	possibly damaging	Het
Lmbrd1	G	A	1: 24,784,056 (GRCm39)		probably null	Het
Lrrcc1	C	T	3: 14,601,156 (GRCm39)	R63*	probably null	Het
Lyar	A	G	5: 38,382,123 (GRCm39)	D35G	probably damaging	Het
Mbd4	C	T	6: 115,822,283 (GRCm39)	R442Q	probably benign	Het
Mib2	G	T	4: 155,744,229 (GRCm39)	S144R	probably benign	Het
Mms22l	A	T	4: 24,580,052 (GRCm39)		probably null	Het
Mtmr3	G	A	11: 4,437,764 (GRCm39)	H897Y	probably benign	Het
Muc5b	T	A	7: 141,401,453 (GRCm39)	C566*	probably null	Het
Nap1l4	A	T	7: 143,088,200 (GRCm39)		probably null	Het
Ncor2	A	T	5: 125,114,124 (GRCm39)		probably null	Het
Ndufa7	T	C	17: 34,057,187 (GRCm39)		probably benign	Het
Ndufs1	C	A	1: 63,200,108 (GRCm39)	G268V	probably damaging	Het
Nfs1	A	G	2: 155,976,369 (GRCm39)	V175A	possibly damaging	Het
Obsl1	C	A	1: 75,466,145 (GRCm39)	A1528S	possibly damaging	Het
Or2z8	A	G	8: 72,811,938 (GRCm39)	N138S	probably benign	Het
Or4a79	C	T	2: 89,551,706 (GRCm39)	V250I	probably benign	Het
Or52z1	A	T	7: 103,436,688 (GRCm39)	F265L	possibly damaging	Het
Or7a42	T	G	10: 78,791,931 (GRCm39)	D297E	probably null	Het
Or8k39	C	T	2: 86,563,018 (GRCm39)		probably null	Het
Pcdhb8	A	G	18: 37,488,706 (GRCm39)	D128G	probably damaging	Het
Pkp4	A	T	2: 59,172,449 (GRCm39)	I522F	probably damaging	Het
Plod3	G	A	5: 137,019,654 (GRCm39)	A398T	probably benign	Het
Pou4f3	A	G	18: 42,529,052 (GRCm39)	M332V	possibly damaging	Het
Prox1	A	G	1: 189,885,669 (GRCm39)	F593L	probably damaging	Het
Prrc2a	G	A	17: 35,369,018 (GRCm39)	P2006L	probably damaging	Het
Prss50	A	G	9: 110,692,864 (GRCm39)	D328G	probably damaging	Het
Psmd6	C	T	14: 14,120,126 (GRCm38)	S71N	probably benign	Het
Ptprd	A	G	4: 76,009,769 (GRCm39)	I764T	probably benign	Het
Ptprr	C	T	10: 115,884,123 (GRCm39)	A60V	probably benign	Het
Raet1e	T	A	10: 22,057,199 (GRCm39)	D174E	probably damaging	Het
Rbfox2	T	C	15: 76,976,018 (GRCm39)	I308M	probably benign	Het
Rpap2	A	T	5: 107,768,113 (GRCm39)	H317L	probably benign	Het
Rsph6a	T	A	7: 18,799,783 (GRCm39)	Y471*	probably null	Het
Sdhb	A	G	4: 140,704,777 (GRCm39)	H246R	possibly damaging	Het
Sh3bp5	C	A	14: 31,099,452 (GRCm39)	R265L	probably benign	Het
Sin3b	A	C	8: 73,452,271 (GRCm39)	I126L	probably benign	Het
Skint2	G	A	4: 112,509,305 (GRCm39)	A363T	probably benign	Het
Slc22a30	A	G	19: 8,321,768 (GRCm39)	I432T	probably benign	Het
Slc2a2	G	A	3: 28,771,681 (GRCm39)		probably null	Het
Slco1a5	T	C	6: 142,194,533 (GRCm39)	Y370C	possibly damaging	Het
Sltm	A	G	9: 70,496,339 (GRCm39)	H958R	probably damaging	Het
Smpdl3a	C	T	10: 57,684,111 (GRCm39)	H290Y	probably damaging	Het
Snrnp40	A	G	4: 130,256,549 (GRCm39)	I91M	probably damaging	Het
Spag9	T	A	11: 93,939,343 (GRCm39)	F91I	probably damaging	Het
Spag9	A	T	11: 93,939,342 (GRCm39)	K90N	possibly damaging	Het
Stox1	A	C	10: 62,501,516 (GRCm39)	I348S	probably damaging	Het
Sult1e1	A	G	5: 87,738,027 (GRCm39)	V18A	possibly damaging	Het
Syne2	A	G	12: 75,945,941 (GRCm39)	M338V	probably benign	Het
Tbc1d23	T	A	16: 57,012,991 (GRCm39)	Q327L	probably benign	Het
Terf2	G	T	8: 107,803,307 (GRCm39)	H425Q	probably benign	Het
Timd2	A	T	11: 46,568,094 (GRCm39)	Y233*	probably null	Het
Tmem39a	A	G	16: 38,411,524 (GRCm39)		probably benign	Het
Trappc10	T	C	10: 78,037,424 (GRCm39)	D793G	possibly damaging	Het
Ugt1a10	TAAAAAAAAA	TAAAAAAA	1: 88,143,650 (GRCm39)		probably benign	Het
Unc93a	T	C	17: 13,339,782 (GRCm39)		probably null	Het
Utrn	T	C	10: 12,625,813 (GRCm39)	T123A	probably damaging	Het
Vmn1r171	T	C	7: 23,332,369 (GRCm39)	I198T	probably benign	Het
Vmn1r213	T	A	13: 23,196,016 (GRCm39)	S200T	probably damaging	Het
Vmn2r108	T	A	17: 20,682,891 (GRCm39)	D771V	probably damaging	Het
Wls	C	T	3: 159,603,082 (GRCm39)	T165I	probably benign	Het
Zc3h13	G	A	14: 75,576,863 (GRCm39)	C1657Y	probably damaging	Het
Zdhhc5	T	C	2: 84,523,775 (GRCm39)	K224E	probably damaging	Het
Zfp54	T	A	17: 21,654,402 (GRCm39)	Y299N	probably damaging	Het
Zfp820	A	T	17: 22,037,966 (GRCm39)	L454Q	probably benign	Het
Zfp960	T	A	17: 17,308,698 (GRCm39)	F471I	probably damaging	Het
Zswim5	A	G	4: 116,830,169 (GRCm39)	I515V	probably benign	Het
Zzef1	G	T	11: 72,750,449 (GRCm39)	S919I	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
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

Predicted Primers

PCR Primer
(F):5'- GATGCGGCATCTCATTAGCAG -3'
(R):5'- AAGTTCAATCTTCAGCTGCTTG -3'

Sequencing Primer
(F):5'- GCATCTCATTAGCAGCCTCCAG -3'
(R):5'- TCAGCTGCTTGATAATTTCTGC -3'

Posted On

2016-02-04