Mutagenetix > Incidental Mutation

Incidental Mutation 'R7776:Rnf20'

598878

Institutional Source

Beutler Lab

Gene Symbol

Rnf20

Ensembl Gene

ENSMUSG00000028309

Gene Name

ring finger protein 20

Synonyms

4833430L21Rik

MMRRC Submission

045832-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7776 (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 49644592 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Stop codon at position 286 (Q286*)

Ref Sequence

ENSEMBL: ENSMUSP00000029989 (fasta)

Gene Model

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

AlphaFold

Q5DTM8

Predicted Effect

probably null
Transcript: ENSMUST00000029989
AA Change: Q286*

SMART Domains

Protein: ENSMUSP00000029989
Gene: ENSMUSG00000028309
AA Change: Q286*

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: Q286*

SMART Domains

Protein: ENSMUSP00000118293
Gene: ENSMUSG00000028309
AA Change: Q286*

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: Q286*

SMART Domains

Protein: ENSMUSP00000128546
Gene: ENSMUSG00000028309
AA Change: Q286*

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: 100.0%
10x: 99.7%
20x: 99.0%

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: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca14	T	C	7: 119,832,214 (GRCm39)		probably null	Het
Abca3	T	A	17: 24,605,250 (GRCm39)	V716D	possibly damaging	Het
Adprhl1	C	T	8: 13,298,682 (GRCm39)	V83I	probably damaging	Het
Alkbh1	A	G	12: 87,478,215 (GRCm39)	V232A	probably damaging	Het
Arhgef10l	T	A	4: 140,302,642 (GRCm39)	I271F	probably damaging	Het
Aspm	T	A	1: 139,407,584 (GRCm39)	M2157K	possibly damaging	Het
Capn13	G	A	17: 73,629,049 (GRCm39)	S586L	probably benign	Het
Cd3g	A	T	9: 44,885,459 (GRCm39)		probably null	Het
Cfap54	A	T	10: 92,704,603 (GRCm39)	Y2826N	unknown	Het
Cmas	T	C	6: 142,710,283 (GRCm39)	V134A	probably damaging	Het
Cnp	A	G	11: 100,469,814 (GRCm39)	H250R	probably damaging	Het
Dact1	G	A	12: 71,364,688 (GRCm39)	A453T	probably benign	Het
Dcaf6	T	A	1: 165,179,623 (GRCm39)	R506*	probably null	Het
Dph1	A	G	11: 75,081,272 (GRCm39)	V5A	probably benign	Het
Entpd3	A	G	9: 120,387,568 (GRCm39)	Y255C	probably damaging	Het
Etl4	A	T	2: 20,811,957 (GRCm39)	T1715S	probably damaging	Het
Exd2	T	A	12: 80,539,334 (GRCm39)	H466Q	probably damaging	Het
Fbln2	A	G	6: 91,246,181 (GRCm39)	N1056S	probably damaging	Het
Fcrl5	A	T	3: 87,351,502 (GRCm39)	Q250L	possibly damaging	Het
Fignl2	A	G	15: 100,951,301 (GRCm39)	V327A	unknown	Het
Gm10226	T	A	17: 21,910,866 (GRCm39)	C34S	possibly damaging	Het
H2bc6	A	T	13: 23,769,938 (GRCm39)	M1K	probably null	Het
Kdm6b	A	G	11: 69,296,960 (GRCm39)	S436P	possibly damaging	Het
Lmnb2	G	T	10: 80,753,991 (GRCm39)	A21E	possibly damaging	Het
Mcf2l	A	T	8: 12,930,127 (GRCm39)	E49V	probably benign	Het
Muc2	A	G	7: 141,290,942 (GRCm39)	E76G		Het
Naa60	T	C	16: 3,718,573 (GRCm39)	I135T	probably benign	Het
Neb	T	C	2: 52,097,713 (GRCm39)	Y4924C	possibly damaging	Het
Nlrp10	T	A	7: 108,524,656 (GRCm39)	I275F	probably damaging	Het
Nr3c2	T	C	8: 77,636,174 (GRCm39)	V425A	possibly damaging	Het
Nucb2	T	A	7: 116,128,248 (GRCm39)	D286E	probably damaging	Het
Nynrin	G	A	14: 56,103,420 (GRCm39)	G755S	probably damaging	Het
Or5d41	T	C	2: 88,054,429 (GRCm39)	T316A	probably damaging	Het
Padi2	T	A	4: 140,651,656 (GRCm39)	D135E	probably benign	Het
Pcdha6	T	A	18: 37,103,034 (GRCm39)	S742R	probably benign	Het
Pcdhgb5	T	A	18: 37,866,007 (GRCm39)	S601T	probably damaging	Het
Pira13	T	C	7: 3,826,246 (GRCm39)	N249S	unknown	Het
Polr1b	C	A	2: 128,967,464 (GRCm39)	F952L	probably damaging	Het
Prr15l	T	C	11: 96,825,390 (GRCm39)	W7R	possibly damaging	Het
Ptpn23	G	A	9: 110,215,368 (GRCm39)	H1431Y	possibly damaging	Het
Rptor	T	C	11: 119,783,453 (GRCm39)	I1149T	probably benign	Het
Sfrp2	A	G	3: 83,674,086 (GRCm39)	I80V	probably benign	Het
Slc38a2	T	C	15: 96,588,033 (GRCm39)	D497G	probably benign	Het
Slc43a1	T	A	2: 84,671,197 (GRCm39)	M44K	probably damaging	Het
Stil	T	A	4: 114,890,035 (GRCm39)	V841E	possibly damaging	Het
Stip1	T	A	19: 6,999,141 (GRCm39)	H479L	probably benign	Het
Supt6	A	G	11: 78,100,355 (GRCm39)	Y1486H	probably damaging	Het
Taf6	T	C	5: 138,180,282 (GRCm39)	D324G	probably damaging	Het
Tgif1	T	A	17: 71,158,452 (GRCm39)		probably benign	Het
Tmprss11f	T	C	5: 86,681,605 (GRCm39)	E216G	probably benign	Het
Tmprss7	C	A	16: 45,488,014 (GRCm39)	A472S	probably benign	Het
Trpm1	T	A	7: 63,897,939 (GRCm39)	F1191I	probably benign	Het
Tspan12	T	A	6: 21,836,442 (GRCm39)	N40I	probably damaging	Het
Ttll3	AAGTA	AAGTACAGTA	6: 113,376,120 (GRCm39)		probably null	Het
Unc13c	A	T	9: 73,602,232 (GRCm39)	I1338N	probably damaging	Het
Vegfc	T	A	8: 54,530,835 (GRCm39)	S8T	unknown	Het
Vmn1r59	T	A	7: 5,457,634 (GRCm39)	Q42L	probably damaging	Het
Vmn2r-ps117	A	T	17: 19,043,934 (GRCm39)	I337F	probably damaging	Het
Xylb	G	A	9: 119,209,766 (GRCm39)		probably null	Het
Zfp551	T	A	7: 12,152,569 (GRCm39)	I55F	probably damaging	Het
Zfp972	T	C	2: 177,563,532 (GRCm39)	N27S	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
R7064:Rnf20	UTSW	4	49,644,580 (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'- TGGAATTTGGAATGCTTGACTCAGTC -3'
(R):5'- AAACACTTGCTGCTCTTGC -3'

Sequencing Primer
(F):5'- GAATGCTTGACTCAGTCCTTTTG -3'
(R):5'- CTGTAGCTCCAGGGGATCTAATAC -3'

Posted On

2019-11-26