Mutagenetix > Incidental Mutation

Incidental Mutation 'R8735:Rnf20'

662960

Institutional Source

Beutler Lab

Gene Symbol

Rnf20

Ensembl Gene

ENSMUSG00000028309

Gene Name

ring finger protein 20

Synonyms

4833430L21Rik

MMRRC Submission

068583-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R8735 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

49632006-49656887 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 49655964 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Serine at position 970 (I970S)

Ref Sequence

ENSEMBL: ENSMUSP00000029989 (fasta)

Gene Model

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

AlphaFold

Q5DTM8

Predicted Effect

possibly damaging
Transcript: ENSMUST00000029989
AA Change: I970S

PolyPhen 2 Score 0.948 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000029989
Gene: ENSMUSG00000028309
AA Change: I970S

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

possibly damaging
Transcript: ENSMUST00000167496
AA Change: I970S

PolyPhen 2 Score 0.948 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000128546
Gene: ENSMUSG00000028309
AA Change: I970S

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: 99.6%
20x: 98.7%

Validation Efficiency

99% (76/77)

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: 78 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310007B03Rik	C	T	1: 93,154,486 (GRCm38)		probably null	Het
6430550D23Rik	A	G	2: 156,003,811 (GRCm38)	F9S	unknown	Het
Abhd10	A	G	16: 45,737,634 (GRCm38)	F101L	probably damaging	Het
Acp2	A	G	2: 91,204,306 (GRCm38)	T93A	probably benign	Het
Adamts9	C	T	6: 92,860,067 (GRCm38)		probably benign	Het
Aknad1	T	A	3: 108,775,299 (GRCm38)		probably benign	Het
Ank3	A	T	10: 69,986,955 (GRCm38)	T485S	probably benign	Het
Caly	G	A	7: 140,072,590 (GRCm38)	R82C	probably damaging	Het
Cfhr2	A	G	1: 139,858,605 (GRCm38)	L8P	probably damaging	Het
Cpeb2	T	A	5: 43,281,432 (GRCm38)	L869*	probably null	Het
Cxxc1	A	G	18: 74,217,260 (GRCm38)	K33E	possibly damaging	Het
Cyp17a1	T	C	19: 46,671,094 (GRCm38)		probably null	Het
Cyp4a30b	G	A	4: 115,452,779 (GRCm38)	W59*	probably null	Het
Dennd4b	T	C	3: 90,277,865 (GRCm38)	V1204A	probably damaging	Het
Dpyd	T	A	3: 119,141,916 (GRCm38)	D663E	possibly damaging	Het
Esrrg	A	T	1: 188,201,008 (GRCm38)		probably benign	Het
Exoc2	A	C	13: 30,906,839 (GRCm38)	L261V	probably damaging	Het
Exosc9	T	C	3: 36,555,513 (GRCm38)	L185S	probably damaging	Het
Gcnt3	T	C	9: 70,034,446 (GRCm38)	K280R	probably benign	Het
Gm35339	T	C	15: 76,356,575 (GRCm38)	Y488H		Het
Ighv1-64	A	T	12: 115,507,597 (GRCm38)	M100K	probably benign	Het
Impdh2	G	A	9: 108,564,779 (GRCm38)		probably null	Het
Itsn2	T	A	12: 4,671,474 (GRCm38)	I1068K	probably damaging	Het
Kif5c	T	C	2: 49,694,771 (GRCm38)	C169R	probably damaging	Het
Kndc1	A	G	7: 139,910,214 (GRCm38)	S211G	probably benign	Het
Lama2	T	A	10: 27,190,534 (GRCm38)	E1117V	probably damaging	Het
Lgals4	C	T	7: 28,841,496 (GRCm38)	R282C	probably damaging	Het
Lsg1	T	A	16: 30,581,047 (GRCm38)		probably null	Het
Msh3	A	G	13: 92,274,866 (GRCm38)	S608P	possibly damaging	Het
Mslnl	T	A	17: 25,745,088 (GRCm38)	F464I	probably benign	Het
Mycbp2	T	A	14: 103,223,150 (GRCm38)	K1493N	probably damaging	Het
Myo15	A	T	11: 60,510,853 (GRCm38)		probably null	Het
Myo1b	A	T	1: 51,755,737 (GRCm38)	F1065I	probably benign	Het
Nf1	A	G	11: 79,454,310 (GRCm38)		probably benign	Het
Nup153	C	A	13: 46,727,551 (GRCm38)		probably benign	Het
Olfr1291-ps1	T	A	2: 111,500,152 (GRCm38)	I300K	probably damaging	Het
Olfr1447	A	G	19: 12,900,910 (GRCm38)	V290A	possibly damaging	Het
Osbpl7	A	G	11: 97,052,368 (GRCm38)	T149A	probably benign	Het
Parp1	A	G	1: 180,569,125 (GRCm38)	D31G	probably benign	Het
Pcdha6	T	A	18: 36,968,150 (GRCm38)	V132E	possibly damaging	Het
Pcdhb8	T	A	18: 37,356,922 (GRCm38)	L551Q	possibly damaging	Het
Pcsk9	T	A	4: 106,454,611 (GRCm38)	T190S	probably damaging	Het
Pdgfrb	A	T	18: 61,063,977 (GRCm38)	T162S	probably benign	Het
Pi4ka	C	T	16: 17,318,370 (GRCm38)	R908Q		Het
Pnpla8	A	G	12: 44,283,439 (GRCm38)	E258G	probably benign	Het
Prrc2c	A	T	1: 162,709,558 (GRCm38)	S643T	unknown	Het
Robo2	A	T	16: 73,958,359 (GRCm38)	V758D	probably damaging	Het
Robo4	G	A	9: 37,408,281 (GRCm38)	S609N	possibly damaging	Het
Rrbp1	G	A	2: 143,989,000 (GRCm38)	Q416*	probably null	Het
Rsf1	GCG	GCGACGGCGACG	7: 97,579,907 (GRCm38)		probably benign	Het
Ryr2	C	A	13: 11,686,947 (GRCm38)	E2941D	probably damaging	Het
Scd2	G	T	19: 44,301,304 (GRCm38)	C246F	probably benign	Het
Sh3rf1	G	A	8: 61,372,653 (GRCm38)	V561I	probably benign	Het
Slc4a4	T	A	5: 89,132,442 (GRCm38)	D366E	probably damaging	Het
Slfn14	T	G	11: 83,283,889 (GRCm38)	Q92P	probably damaging	Het
Slfn4	A	T	11: 83,186,944 (GRCm38)	Y186F	probably damaging	Het
Smpd4	T	C	16: 17,635,546 (GRCm38)	L309P	possibly damaging	Het
Smyd3	G	T	1: 179,092,917 (GRCm38)	N217K	probably benign	Het
Spen	T	C	4: 141,469,818 (GRCm38)	T3547A	probably benign	Het
Suclg1	A	T	6: 73,276,746 (GRCm38)	I126F	unknown	Het
Tenm4	C	T	7: 96,905,941 (GRCm38)	P2618S	probably benign	Het
Tmprss15	A	T	16: 79,001,814 (GRCm38)	I660N	possibly damaging	Het
Trf	A	T	9: 103,210,524 (GRCm38)	V677D	probably damaging	Het
Trim36	T	C	18: 46,169,385 (GRCm38)	N532S	probably benign	Het
Trim37	T	C	11: 87,147,059 (GRCm38)		probably null	Het
Ttn	T	C	2: 76,740,110 (GRCm38)	N26813S	probably benign	Het
Vmn1r199	T	A	13: 22,383,367 (GRCm38)	V277D	probably damaging	Het
Wdfy3	T	C	5: 101,930,085 (GRCm38)	D873G	probably benign	Het
Wdr27	T	C	17: 14,883,667 (GRCm38)	T726A	probably damaging	Het
Wdtc1	A	T	4: 133,304,200 (GRCm38)	C236*	probably null	Het
Wnk4	A	C	11: 101,276,266 (GRCm38)	S1083R	unknown	Het
Wwc1	A	T	11: 35,883,407 (GRCm38)	I342N	probably damaging	Het
Zbtb40	A	G	4: 136,998,646 (GRCm38)	L534P	probably damaging	Het
Zfp62	T	C	11: 49,217,400 (GRCm38)	C773R	probably damaging	Het
Zfp709	T	A	8: 71,889,183 (GRCm38)	I152N	probably benign	Het
Zfp738	T	C	13: 67,671,431 (GRCm38)	Y147C	probably damaging	Het
Zscan18	A	C	7: 12,769,698 (GRCm38)	S645A	probably benign	Het
Zw10	A	G	9: 49,077,561 (GRCm38)	Y709C	probably damaging	Het

Other mutations in Rnf20

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00467:Rnf20	APN	4	49,655,480 (GRCm38)	nonsense	probably null
IGL01319:Rnf20	APN	4	49,649,326 (GRCm38)	missense	probably damaging	0.99
IGL01666:Rnf20	APN	4	49,654,486 (GRCm38)	nonsense	probably null
IGL01975:Rnf20	APN	4	49,654,473 (GRCm38)	missense	probably benign	0.00
IGL02130:Rnf20	APN	4	49,644,481 (GRCm38)	splice site	probably benign
IGL02179:Rnf20	APN	4	49,638,712 (GRCm38)	missense	probably benign	0.04
IGL03096:Rnf20	APN	4	49,638,615 (GRCm38)	splice site	probably benign
IGL03120:Rnf20	APN	4	49,649,955 (GRCm38)	splice site	probably benign
IGL03208:Rnf20	APN	4	49,645,706 (GRCm38)	splice site	probably benign
IGL03257:Rnf20	APN	4	49,645,687 (GRCm38)	missense	probably benign	0.19
IGL03349:Rnf20	APN	4	49,655,936 (GRCm38)	missense	probably damaging	1.00
R0372:Rnf20	UTSW	4	49,650,176 (GRCm38)	missense	possibly damaging	0.53
R0486:Rnf20	UTSW	4	49,645,907 (GRCm38)	missense	possibly damaging	0.57
R0791:Rnf20	UTSW	4	49,638,197 (GRCm38)	missense	possibly damaging	0.92
R0927:Rnf20	UTSW	4	49,642,176 (GRCm38)	missense	probably damaging	1.00
R1256:Rnf20	UTSW	4	49,638,230 (GRCm38)	missense	probably benign	0.33
R1272:Rnf20	UTSW	4	49,651,496 (GRCm38)	missense	probably damaging	0.99
R1460:Rnf20	UTSW	4	49,645,873 (GRCm38)	splice site	probably benign
R1522:Rnf20	UTSW	4	49,638,197 (GRCm38)	missense	possibly damaging	0.92
R1698:Rnf20	UTSW	4	49,651,498 (GRCm38)	nonsense	probably null
R1848:Rnf20	UTSW	4	49,644,628 (GRCm38)	missense	probably damaging	1.00
R2214:Rnf20	UTSW	4	49,648,344 (GRCm38)	missense	possibly damaging	0.77
R2497:Rnf20	UTSW	4	49,652,676 (GRCm38)	splice site	probably null
R2915:Rnf20	UTSW	4	49,638,769 (GRCm38)	missense	probably benign	0.13
R4726:Rnf20	UTSW	4	49,654,579 (GRCm38)	nonsense	probably null
R4770:Rnf20	UTSW	4	49,633,412 (GRCm38)	critical splice donor site	probably null
R4799:Rnf20	UTSW	4	49,649,962 (GRCm38)	critical splice acceptor site	probably null
R4960:Rnf20	UTSW	4	49,638,029 (GRCm38)	missense	probably damaging	0.99
R5022:Rnf20	UTSW	4	49,642,016 (GRCm38)	intron	probably benign
R5146:Rnf20	UTSW	4	49,651,456 (GRCm38)	missense	probably benign	0.21
R5379:Rnf20	UTSW	4	49,652,639 (GRCm38)	missense	possibly damaging	0.47
R5423:Rnf20	UTSW	4	49,644,620 (GRCm38)	missense	probably damaging	0.99
R6297:Rnf20	UTSW	4	49,642,132 (GRCm38)	missense	probably damaging	1.00
R6608:Rnf20	UTSW	4	49,650,051 (GRCm38)	missense	probably benign	0.05
R7064:Rnf20	UTSW	4	49,644,580 (GRCm38)	nonsense	probably null
R7776:Rnf20	UTSW	4	49,644,592 (GRCm38)	nonsense	probably null
R8995:Rnf20	UTSW	4	49,648,437 (GRCm38)	missense	possibly damaging	0.94
R9599:Rnf20	UTSW	4	49,638,751 (GRCm38)	missense	probably benign	0.00
R9661:Rnf20	UTSW	4	49,654,556 (GRCm38)	missense	probably damaging	0.99
Z1177:Rnf20	UTSW	4	49,645,655 (GRCm38)	missense	probably damaging	0.98

Predicted Primers

PCR Primer
(F):5'- AGAGCACCACAGTTGCCTTG -3'
(R):5'- GGGAAGACAAACGCTAGTAATTTC -3'

Sequencing Primer
(F):5'- GGTTTATTTATAGTTCCTCAGGCAC -3'
(R):5'- TCTAGTTCATTCTAAGTCCCAAGAC -3'

Posted On

2021-03-08