Mutagenetix > Incidental Mutation

Incidental Mutation 'R4770:Rnf20'

367394

Institutional Source

Beutler Lab

Gene Symbol

Rnf20

Ensembl Gene

ENSMUSG00000028309

Gene Name

ring finger protein 20

Synonyms

4833430L21Rik

MMRRC Submission

042410-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R4770 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

49632006-49656887 bp(+) (GRCm39)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

T to A at 49633412 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000128546 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000029989] [ENSMUST00000140341] [ENSMUST00000140341] [ENSMUST00000146547] [ENSMUST00000146547] [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: ENSMUST00000126675

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000132782

Predicted Effect

probably null
Transcript: ENSMUST00000140341

SMART Domains

Protein: ENSMUSP00000121334
Gene: ENSMUSG00000028309

Domain	Start	End	E-Value	Type
coiled coil region	45	85	N/A	INTRINSIC
low complexity region	164	172	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000140341

SMART Domains

Protein: ENSMUSP00000121334
Gene: ENSMUSG00000028309

Domain	Start	End	E-Value	Type
coiled coil region	45	85	N/A	INTRINSIC
low complexity region	164	172	N/A	INTRINSIC

Predicted Effect

probably null
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: 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

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

0.9495

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.0%
20x: 94.7%

Validation Efficiency

93% (89/96)

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: 83 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca8a	A	G	11: 109,962,341 (GRCm39)	V503A	possibly damaging	Het
Agps	T	A	2: 75,722,199 (GRCm39)	F463Y	possibly damaging	Het
Ajm1	G	A	2: 25,469,759 (GRCm39)	R51C	possibly damaging	Het
Amigo3	A	T	9: 107,930,734 (GRCm39)	L52F	probably damaging	Het
Anapc1	T	C	2: 128,527,980 (GRCm39)		probably benign	Het
Ankrd36	G	T	11: 5,540,870 (GRCm39)	C312F	possibly damaging	Het
Asic2	A	C	11: 80,862,318 (GRCm39)	D226E	probably benign	Het
Atp8b2	T	A	3: 89,864,374 (GRCm39)	Q197L	probably damaging	Het
C2cd3	A	G	7: 100,092,642 (GRCm39)	Y495C	probably damaging	Het
Ccdc51	A	G	9: 108,919,978 (GRCm39)	T125A	probably benign	Het
Ccser1	A	G	6: 61,288,485 (GRCm39)	Y216C	possibly damaging	Het
Cimap1b	A	G	15: 89,263,326 (GRCm39)	I19T	probably damaging	Het
Cntfr	A	T	4: 41,663,282 (GRCm39)	I175N	possibly damaging	Het
Cox10	G	A	11: 63,854,989 (GRCm39)	R431W	probably benign	Het
Cubn	T	C	2: 13,319,578 (GRCm39)	T2881A	possibly damaging	Het
Cyp2d9	T	A	15: 82,336,774 (GRCm39)	V41E	probably damaging	Het
Dmrtb1	C	T	4: 107,540,986 (GRCm39)	G125D	probably benign	Het
Dscaml1	C	T	9: 45,581,404 (GRCm39)	R408C	probably damaging	Het
Duox2	A	T	2: 122,115,397 (GRCm39)	S1052T	probably benign	Het
Ecm1	A	G	3: 95,645,273 (GRCm39)		probably benign	Het
Edrf1	G	T	7: 133,260,339 (GRCm39)	M83I	probably damaging	Het
Epb41l1	T	A	2: 156,371,344 (GRCm39)	M727K	probably benign	Het
Exosc9	T	C	3: 36,607,984 (GRCm39)	V64A	probably damaging	Het
Ezh2	A	T	6: 47,517,630 (GRCm39)	I564N	probably damaging	Het
Fam89b	C	A	19: 5,779,482 (GRCm39)	R25L	probably damaging	Het
Fgr	C	T	4: 132,714,602 (GRCm39)	T98M	probably damaging	Het
Fhip2b	T	A	14: 70,825,727 (GRCm39)	D351V	probably damaging	Het
Gapvd1	A	G	2: 34,581,193 (GRCm39)	S1089P	probably damaging	Het
Gbp5	A	T	3: 142,213,837 (GRCm39)	I544F	possibly damaging	Het
Gli2	C	A	1: 118,910,318 (GRCm39)		probably benign	Het
Gm9934	A	G	7: 92,702,192 (GRCm39)		noncoding transcript	Het
Greb1	A	T	12: 16,731,357 (GRCm39)	D1660E	probably benign	Het
Gtf2i	T	A	5: 134,272,414 (GRCm39)	N750I	possibly damaging	Het
H2-DMb2	G	C	17: 34,367,698 (GRCm39)	D171H	probably damaging	Het
Il11ra1	A	G	4: 41,768,187 (GRCm39)	E366G	probably damaging	Het
Itga2b	A	G	11: 102,351,582 (GRCm39)	F581S	probably damaging	Het
Itsn2	T	A	12: 4,677,892 (GRCm39)	M83K	probably damaging	Het
Kif27	G	A	13: 58,492,191 (GRCm39)	T316M	probably damaging	Het
Lad1	A	T	1: 135,753,531 (GRCm39)	Q26L	probably damaging	Het
Lrrn3	T	A	12: 41,502,442 (GRCm39)	H625L	probably benign	Het
Mast1	A	G	8: 85,655,875 (GRCm39)	V155A	probably benign	Het
Mast3	G	A	8: 71,238,864 (GRCm39)	T480M	probably damaging	Het
Mpc1	C	T	17: 8,512,377 (GRCm39)		probably benign	Het
Mycbp2	T	A	14: 103,457,380 (GRCm39)	M1606L	probably benign	Het
Myo1c	T	A	11: 75,551,139 (GRCm39)	L238*	probably null	Het
Nanog	T	G	6: 122,688,550 (GRCm39)	S44A	possibly damaging	Het
Neb	T	C	2: 52,039,165 (GRCm39)	Q6958R	probably benign	Het
Ngef	C	T	1: 87,405,283 (GRCm39)	R709H	probably damaging	Het
Nr1d1	A	G	11: 98,661,471 (GRCm39)	V265A	probably benign	Het
Nr3c2	A	G	8: 77,634,872 (GRCm39)		probably null	Het
Olfm5	A	G	7: 103,809,685 (GRCm39)	S164P	probably benign	Het
Parvb	T	C	15: 84,188,106 (GRCm39)		probably null	Het
Pde4dip	G	T	3: 97,674,400 (GRCm39)	A172D	probably damaging	Het
Phf2	A	G	13: 48,957,079 (GRCm39)	L1096P	probably damaging	Het
Pik3r6	T	A	11: 68,420,720 (GRCm39)	V155E	probably damaging	Het
Pinx1	T	G	14: 64,109,820 (GRCm39)	V124G	probably damaging	Het
Poglut1	A	G	16: 38,355,119 (GRCm39)	Y236H	probably damaging	Het
Pou4f2	T	A	8: 79,163,030 (GRCm39)	M2L	unknown	Het
Ppfia2	G	C	10: 106,597,978 (GRCm39)	L180F	probably damaging	Het
Pramel26	C	T	4: 143,538,519 (GRCm39)	E151K	probably damaging	Het
Prkaca	A	G	8: 84,717,499 (GRCm39)	N209S	probably benign	Het
Ring1	G	A	17: 34,242,361 (GRCm39)	P49S	probably damaging	Het
Rnf25	G	A	1: 74,633,099 (GRCm39)	R418C	probably damaging	Het
Ryr1	G	T	7: 28,808,707 (GRCm39)	P462Q	probably damaging	Het
Serpinb3d	A	G	1: 107,006,008 (GRCm39)	F360S	probably damaging	Het
Setd7	T	C	3: 51,428,843 (GRCm39)	E329G	probably damaging	Het
Slco2b1	C	T	7: 99,320,156 (GRCm39)		probably null	Het
Snap91	G	A	9: 86,655,654 (GRCm39)	T844I	possibly damaging	Het
Snhg5	C	T	9: 88,404,424 (GRCm39)		noncoding transcript	Het
Son	T	A	16: 91,455,756 (GRCm39)	V1501E	probably damaging	Het
Syncrip	T	A	9: 88,361,905 (GRCm39)	E70V	probably damaging	Het
Tas2r125	A	G	6: 132,886,750 (GRCm39)	D46G	probably damaging	Het
Tmem115	G	A	9: 107,412,156 (GRCm39)	R160Q	probably benign	Het
Trerf1	G	A	17: 47,630,581 (GRCm39)		noncoding transcript	Het
Tut7	A	G	13: 59,920,698 (GRCm39)		probably benign	Het
Uggt2	A	T	14: 119,266,466 (GRCm39)		probably null	Het
Ush2a	G	T	1: 188,282,076 (GRCm39)	V1864F	probably benign	Het
Xkr4	A	T	1: 3,286,714 (GRCm39)	V492D	probably damaging	Het
Zfp646	T	A	7: 127,482,649 (GRCm39)	S1609T	possibly damaging	Het
Zfp65	A	T	13: 67,856,477 (GRCm39)	H277Q	probably damaging	Het
Zfp69	A	G	4: 120,791,614 (GRCm39)	S176P	probably damaging	Het
Zfp747	C	T	7: 126,974,971 (GRCm39)	A10T	probably damaging	Het
Zfp850	T	C	7: 27,684,411 (GRCm39)		probably null	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
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

Predicted Primers

PCR Primer
(F):5'- TGTCAATCCCATTCCTCAACAG -3'
(R):5'- TAGGGTGCCTCTCAGAACAC -3'

Sequencing Primer
(F):5'- ACAGGTACTTTATATTGTGGCATGTC -3'
(R):5'- CACGGCACCTATTTTTCAGTAAGGG -3'

Posted On

2015-12-29