Mutagenetix > Incidental Mutation

Incidental Mutation 'R9599:Rnf20'

723442

Institutional Source

Beutler Lab

Gene Symbol

Rnf20

Ensembl Gene

ENSMUSG00000028309

Gene Name

ring finger protein 20

Synonyms

4833430L21Rik

MMRRC Submission

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R9599 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

49632006-49656887 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 49638751 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 191 (V191A)

Ref Sequence

ENSEMBL: ENSMUSP00000029989 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000029989] [ENSMUST00000140341] [ENSMUST00000146547] [ENSMUST00000156314] [ENSMUST00000167496]

AlphaFold

Q5DTM8

Predicted Effect

probably benign
Transcript: ENSMUST00000029989
AA Change: V191A

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)

SMART Domains

Protein: ENSMUSP00000029989
Gene: ENSMUSG00000028309
AA Change: V191A

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: 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 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 benign
Transcript: ENSMUST00000156314
AA Change: V191A

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)

SMART Domains

Protein: ENSMUSP00000118293
Gene: ENSMUSG00000028309
AA Change: V191A

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
AA Change: V191A

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)

SMART Domains

Protein: ENSMUSP00000128546
Gene: ENSMUSG00000028309
AA Change: V191A

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: 99.5%
20x: 98.4%

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: 77 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110002E22Rik	A	G	3: 137,774,267 (GRCm39)	N1152S	probably benign	Het
Abcb6	A	T	1: 75,151,372 (GRCm39)	Y518N	possibly damaging	Het
Actr2	G	A	11: 20,030,745 (GRCm39)	P168S	probably damaging	Het
Adam12	A	G	7: 133,566,454 (GRCm39)	V332A	probably damaging	Het
Adam23	T	C	1: 63,620,359 (GRCm39)	I805T	probably benign	Het
Adar	A	G	3: 89,654,516 (GRCm39)	T883A	probably benign	Het
Aldh3a1	A	G	11: 61,107,912 (GRCm39)	T319A	probably damaging	Het
Apcdd1	T	A	18: 63,083,269 (GRCm39)		probably null	Het
Arhgef18	C	A	8: 3,482,718 (GRCm39)	A141E	possibly damaging	Het
Bub3	A	G	7: 131,170,428 (GRCm39)	T317A	probably benign	Het
Ccdc102a	A	G	8: 95,639,901 (GRCm39)	L131P	probably damaging	Het
Ccdc60	C	A	5: 116,269,265 (GRCm39)	D452Y	probably damaging	Het
Ccdc66	T	C	14: 27,219,381 (GRCm39)	E125G	probably damaging	Het
Ccdc68	A	G	18: 70,093,492 (GRCm39)	E233G	probably damaging	Het
Cep192	A	G	18: 67,968,525 (GRCm39)	D973G	probably benign	Het
Cox5b	T	A	1: 36,730,759 (GRCm39)	M31K	probably benign	Het
Cse1l	A	G	2: 166,783,386 (GRCm39)	N780S	probably benign	Het
Cyfip1	T	C	7: 55,563,277 (GRCm39)		probably null	Het
Cyp1a1	C	T	9: 57,607,770 (GRCm39)	P133S	probably benign	Het
Dcp1a	A	G	14: 30,241,497 (GRCm39)	M436V	probably benign	Het
Dcst1	G	T	3: 89,265,075 (GRCm39)	Y258*	probably null	Het
Dhx30	T	C	9: 109,914,518 (GRCm39)	E993G	possibly damaging	Het
Disc1	A	T	8: 125,814,261 (GRCm39)	M42L	possibly damaging	Het
Dnah8	CGTGTCTTCAATATTTTGTTCCCTTTCCCGTAGGTGCCGTCCTTTGACTTTCCTGTGTCTTCAATATTTTGTTCCCTTTCCCGTAGGTGCCGTCCTTTGACTTTCCTGTGTCTTCAATATTTTGTTCCCTTTCCCGTAGGTGCCGTCCTT	CGTGTCTTCAATATTTTGTTCCCTTTCCCGTAGGTGCCGTCCTTTGACTTTCCTGTGTCTTCAATATTTTGTTCCCTTTCCCGTAGGTGCCGTCCTT	17: 30,979,841 (GRCm39)		probably null	Het
Entrep3	A	G	3: 89,094,099 (GRCm39)	D304G	possibly damaging	Het
Erbb2	A	T	11: 98,318,216 (GRCm39)	D484V	probably benign	Het
Fxr2	A	G	11: 69,543,469 (GRCm39)	N657D	probably benign	Het
Gbx2	T	C	1: 89,856,635 (GRCm39)	T252A	probably damaging	Het
Gdap2	A	T	3: 100,078,264 (GRCm39)	N76I	probably damaging	Het
Gm20939	A	G	17: 95,184,666 (GRCm39)	Y438C	probably damaging	Het
Gsdma2	A	G	11: 98,540,459 (GRCm39)	E126G	possibly damaging	Het
Gsg1	T	G	6: 135,217,098 (GRCm39)	H246P	probably damaging	Het
Hjurp	TCTGGGAGGGCTTGCTCCGGGGGCAGTGTGTCCTGTTCTTGTGCAGCCCCTGCT	TCT	1: 88,194,000 (GRCm39)		probably benign	Het
Ighv1-62-1	T	C	12: 115,350,601 (GRCm39)	Q22R	possibly damaging	Het
Kcng3	A	T	17: 83,895,211 (GRCm39)	F418L	probably benign	Het
Lin54	C	A	5: 100,598,546 (GRCm39)	R593L	probably damaging	Het
Lrp1	T	A	10: 127,410,246 (GRCm39)	N1500I	probably damaging	Het
Lvrn	A	C	18: 46,999,494 (GRCm39)	S287R	probably benign	Het
Mab21l4	T	C	1: 93,087,568 (GRCm39)	E95G	possibly damaging	Het
Madd	G	A	2: 91,006,026 (GRCm39)	P390S	probably damaging	Het
Mapk8ip3	C	A	17: 25,118,124 (GRCm39)	R1281L	probably damaging	Het
Masp1	T	A	16: 23,271,698 (GRCm39)	T618S	probably benign	Het
Mgat5	A	G	1: 127,248,445 (GRCm39)	T116A	probably benign	Het
Mmp1a	TG	TGG	9: 7,465,083 (GRCm38)		probably null	Het
Mrpl39	A	G	16: 84,527,359 (GRCm39)	F176S	probably damaging	Het
Myt1l	T	C	12: 29,943,441 (GRCm39)	I953T	unknown	Het
Nedd4l	A	G	18: 65,343,400 (GRCm39)	H820R	probably damaging	Het
Nxpe3	A	T	16: 55,664,855 (GRCm39)	V455D	probably damaging	Het
Olfm4	T	C	14: 80,243,747 (GRCm39)	F105S	probably damaging	Het
Or10ak8	C	T	4: 118,773,851 (GRCm39)	R271Q	probably benign	Het
Patz1	A	G	11: 3,240,720 (GRCm39)	N36S	probably benign	Het
Peg3	T	A	7: 6,714,723 (GRCm39)	K166N	probably damaging	Het
Pes1	T	A	11: 3,926,118 (GRCm39)	D302E	probably benign	Het
Pierce1	TCTCTGGGGCAGGCTTAGCCTTGGGCTCCCCCGGCTCCGGCTCCTCTGGGGCAGGCTTAGCCTTGGGCTCCCCCGGCTCCGGCTCCTCTGGGGCGGGCTTAGCCTTGGGCTCCCCCGGCTCCGGCTCCTC	TCTCTGGGGCAGGCTTAGCCTTGGGCTCCCCCGGCTCCGGCTCCTCTGGGGCGGGCTTAGCCTTGGGCTCCCCCGGCTCCGGCTCCTC	2: 28,356,122 (GRCm39)		probably benign	Het
Plekhh3	G	A	11: 101,054,972 (GRCm39)	T627M	unknown	Het
Plxnd1	C	T	6: 115,940,274 (GRCm39)	R1370Q	possibly damaging	Het
Scn8a	A	T	15: 100,911,172 (GRCm39)	K864M	probably damaging	Het
Sema3c	T	C	5: 17,919,452 (GRCm39)		probably null	Het
Slc24a4	C	T	12: 102,097,779 (GRCm39)	T30I	probably benign	Het
Slc27a2	A	G	2: 126,420,904 (GRCm39)	D465G	probably damaging	Het
Snrnp48	T	C	13: 38,393,920 (GRCm39)	M75T	probably benign	Het
Srgap2	A	G	1: 131,272,164 (GRCm39)	S41P		Het
St3gal5	A	G	6: 72,130,580 (GRCm39)	T391A	probably benign	Het
Stkld1	T	C	2: 26,843,297 (GRCm39)	L628P	possibly damaging	Het
Tbc1d1	T	A	5: 64,502,701 (GRCm39)	M1074K	probably benign	Het
Tent2	G	T	13: 93,322,821 (GRCm39)	Q43K	probably benign	Het
Tpsb2	T	A	17: 25,586,077 (GRCm39)	Y98*	probably null	Het
Trav6d-3	G	A	14: 52,964,144 (GRCm39)	D36N	probably benign	Het
Trim16	A	G	11: 62,731,644 (GRCm39)	Y505C	probably damaging	Het
Ttpal	A	G	2: 163,457,458 (GRCm39)	D310G	probably benign	Het
Ubox5	A	G	2: 130,441,835 (GRCm39)	I284T	probably damaging	Het
Vmn2r45	T	A	7: 8,478,457 (GRCm39)		probably null	Het
Vmn2r67	T	C	7: 84,804,941 (GRCm39)	D57G	probably damaging	Het
Wdfy4	T	C	14: 32,855,428 (GRCm39)	T729A		Het
Wdr81	A	T	11: 75,344,349 (GRCm39)	M306K	probably benign	Het
Zfp62	A	G	11: 49,106,542 (GRCm39)	D211G	probably damaging	Het
Zfyve16	T	C	13: 92,636,763 (GRCm39)	K1316E	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
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
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
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'- AAGTTGAACTTTGCTTTGAGGC -3'
(R):5'- GGTGCTGGAATAGAAGCCACAC -3'

Sequencing Primer
(F):5'- TGAGGGAAAATTTGCTATTTCCAG -3'
(R):5'- TGGAATAGAAGCCACACACCTAG -3'

Posted On

2022-08-09