Mutagenetix > Incidental Mutation

Incidental Mutation 'R1522:Rnf20'

167503

Institutional Source

Beutler Lab

Gene Symbol

Rnf20

Ensembl Gene

ENSMUSG00000028309

Gene Name

ring finger protein 20

Synonyms

4833430L21Rik

MMRRC Submission

040871-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R1522 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

49632006-49656887 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 49638197 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 103 (N103S)

Ref Sequence

ENSEMBL: ENSMUSP00000121334 (fasta)

Gene Model

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

AlphaFold

Q5DTM8

Predicted Effect

probably benign
Transcript: ENSMUST00000029989
AA Change: N103S

PolyPhen 2 Score 0.107 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000029989
Gene: ENSMUSG00000028309
AA Change: N103S

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

possibly damaging
Transcript: ENSMUST00000140341
AA Change: N103S

PolyPhen 2 Score 0.924 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000121334
Gene: ENSMUSG00000028309
AA Change: N103S

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

noncoding transcript
Transcript: ENSMUST00000149862

Predicted Effect

probably benign
Transcript: ENSMUST00000156314
AA Change: N103S

PolyPhen 2 Score 0.407 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000118293
Gene: ENSMUSG00000028309
AA Change: N103S

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: N103S

PolyPhen 2 Score 0.107 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000128546
Gene: ENSMUSG00000028309
AA Change: N103S

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

0.0710

Coding Region Coverage

1x: 99.0%
3x: 98.1%
10x: 95.8%
20x: 91.1%

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: 99 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700003E16Rik	T	C	6: 83,139,568 (GRCm39)	S498P	probably damaging	Het
3100002H09Rik	A	G	4: 124,504,487 (GRCm39)	W22R	probably damaging	Het
AA986860	A	G	1: 130,670,831 (GRCm39)	E351G	probably damaging	Het
Acsl5	T	C	19: 55,268,924 (GRCm39)	V195A	probably benign	Het
Actmap	A	G	7: 26,902,105 (GRCm39)	H244R	probably damaging	Het
Adamts10	A	G	17: 33,756,293 (GRCm39)	D312G	probably benign	Het
Adgrb1	A	G	15: 74,452,466 (GRCm39)	M211V	probably damaging	Het
Ankfy1	C	T	11: 72,646,693 (GRCm39)	R859*	probably null	Het
Atp8b1	T	A	18: 64,683,503 (GRCm39)	I742L	probably benign	Het
B3galnt2	T	A	13: 14,145,354 (GRCm39)	V89E	probably damaging	Het
Brinp3	A	C	1: 146,777,628 (GRCm39)	T692P	probably damaging	Het
C9	T	A	15: 6,516,243 (GRCm39)	F349I	probably damaging	Het
Cacna1a	T	A	8: 85,360,062 (GRCm39)	M1976K	probably benign	Het
Castor2	T	G	5: 134,154,726 (GRCm39)	S43R	probably damaging	Het
Ccdc180	T	C	4: 45,927,975 (GRCm39)	V1170A	possibly damaging	Het
Celsr1	A	G	15: 85,815,477 (GRCm39)	V1846A	probably benign	Het
Ces1f	A	T	8: 93,998,517 (GRCm39)	Y160N	possibly damaging	Het
Cfap45	A	G	1: 172,368,139 (GRCm39)	E377G	probably damaging	Het
Clca3a1	T	A	3: 144,460,932 (GRCm39)	M240L	probably benign	Het
Clnk	G	A	5: 38,952,309 (GRCm39)	T10M	probably damaging	Het
Cntrl	T	A	2: 35,045,291 (GRCm39)	I781K	possibly damaging	Het
Col11a2	G	A	17: 34,274,228 (GRCm39)	G375S	probably damaging	Het
Col6a5	T	A	9: 105,817,193 (GRCm39)	I373F	unknown	Het
Dmxl1	C	T	18: 49,985,434 (GRCm39)	A227V	probably benign	Het
Dok5	A	G	2: 170,574,052 (GRCm39)	N4D	probably benign	Het
Dpysl3	A	T	18: 43,496,622 (GRCm39)	V138D	probably damaging	Het
Efs	A	T	14: 55,157,172 (GRCm39)	Y380N	probably damaging	Het
Eme2	G	A	17: 25,111,892 (GRCm39)	S263F	probably damaging	Het
Farp2	A	G	1: 93,546,275 (GRCm39)	Q855R	possibly damaging	Het
Fcrl2	A	C	3: 87,164,014 (GRCm39)	S372A	possibly damaging	Het
Gadl1	C	T	9: 115,773,297 (GRCm39)	A113V	probably damaging	Het
Gda	T	A	19: 21,389,903 (GRCm39)	E219D	probably benign	Het
Gli1	A	T	10: 127,168,446 (GRCm39)	M469K	probably damaging	Het
Gm4847	A	T	1: 166,469,219 (GRCm39)	S148R	probably damaging	Het
Golga2	T	C	2: 32,192,216 (GRCm39)	V325A	probably benign	Het
Hpf1	A	G	8: 61,349,783 (GRCm39)	D137G	probably damaging	Het
Htr2a	C	G	14: 74,943,293 (GRCm39)	S291*	probably null	Het
Itga5	G	A	15: 103,265,209 (GRCm39)	Q233*	probably null	Het
Jazf1	C	A	6: 52,789,168 (GRCm39)	R102L	probably damaging	Het
Kif6	T	G	17: 50,021,141 (GRCm39)	L322R	probably damaging	Het
Ktn1	A	C	14: 47,904,873 (GRCm39)	K217T	probably damaging	Het
Lig4	A	T	8: 10,023,012 (GRCm39)	V256E	possibly damaging	Het
Lrp1	G	T	10: 127,403,233 (GRCm39)	D2113E	probably damaging	Het
Lrp1	A	T	10: 127,411,155 (GRCm39)	D1399E	probably benign	Het
Mmel1	A	G	4: 154,979,443 (GRCm39)	E717G	probably damaging	Het
Mndal	G	T	1: 173,699,032 (GRCm39)	P155H	possibly damaging	Het
Mycbpap	A	G	11: 94,402,449 (GRCm39)		probably null	Het
Nedd1	T	C	10: 92,555,476 (GRCm39)	E3G	probably damaging	Het
Nlgn1	A	T	3: 25,490,073 (GRCm39)	N551K	probably damaging	Het
Nup210	G	A	6: 91,046,148 (GRCm39)	P595L	possibly damaging	Het
Or2ag15	A	G	7: 106,340,212 (GRCm39)	C310R	probably benign	Het
Or2g25	A	T	17: 37,970,661 (GRCm39)	C188S	probably damaging	Het
Or4k52	A	T	2: 111,610,693 (GRCm39)		probably null	Het
Or5ac17	T	G	16: 59,036,347 (GRCm39)	T210P	probably damaging	Het
Or5p56	A	G	7: 107,589,740 (GRCm39)	H56R	probably benign	Het
Pank3	G	A	11: 35,672,508 (GRCm39)	V304M	probably benign	Het
Phf3	G	A	1: 30,844,729 (GRCm39)	T1410I	probably benign	Het
Ppm1k	A	G	6: 57,502,142 (GRCm39)	I7T	possibly damaging	Het
Ppp1r12c	T	C	7: 4,500,424 (GRCm39)	D73G	probably damaging	Het
Prelid2	T	G	18: 42,014,332 (GRCm39)	M165L	probably benign	Het
Prkd3	A	C	17: 79,260,125 (GRCm39)	L826R	probably damaging	Het
Ptchd4	A	T	17: 42,814,433 (GRCm39)	N778I	probably damaging	Het
Ptprm	T	C	17: 67,000,866 (GRCm39)	D1063G	possibly damaging	Het
Rab27a	C	A	9: 72,982,764 (GRCm39)	T23N	probably damaging	Het
Rasgrf2	A	T	13: 92,044,205 (GRCm39)	F949L	probably benign	Het
Rbm33	A	G	5: 28,542,002 (GRCm39)	N68D	probably damaging	Het
Rgl1	A	T	1: 152,462,284 (GRCm39)	L109Q	probably damaging	Het
Sbno1	G	A	5: 124,530,675 (GRCm39)	L875F	probably damaging	Het
Scube1	T	A	15: 83,512,277 (GRCm39)		probably null	Het
Selenbp1	G	A	3: 94,844,669 (GRCm39)	V109M	probably damaging	Het
Serpina3c	T	A	12: 104,117,805 (GRCm39)	I178F	probably damaging	Het
Shisa8	C	T	15: 82,092,702 (GRCm39)	G63D	probably damaging	Het
Snx14	T	C	9: 88,284,277 (GRCm39)	R464G	possibly damaging	Het
Snx25	A	T	8: 46,577,119 (GRCm39)	M1K	probably null	Het
Sorcs3	C	A	19: 48,694,448 (GRCm39)	T574K	possibly damaging	Het
Syne2	A	G	12: 76,150,557 (GRCm39)	E6528G	probably damaging	Het
Syt5	T	C	7: 4,543,245 (GRCm39)	E338G	probably damaging	Het
Tbk1	T	C	10: 121,387,223 (GRCm39)	K691E	probably benign	Het
Tenm3	G	A	8: 48,848,611 (GRCm39)	T11I	probably damaging	Het
Thrb	A	G	14: 18,002,597 (GRCm38)	H87R	probably damaging	Het
Tlr4	T	A	4: 66,757,933 (GRCm39)	M242K	possibly damaging	Het
Tm4sf19	T	C	16: 32,224,820 (GRCm39)	M56T	possibly damaging	Het
Tmem212	T	A	3: 27,940,620 (GRCm39)	R66*	probably null	Het
Tmem39b	G	T	4: 129,578,275 (GRCm39)	D315E	probably benign	Het
Tnxb	T	C	17: 34,937,612 (GRCm39)	F3834L	probably damaging	Het
Trim36	A	T	18: 46,319,250 (GRCm39)	L225*	probably null	Het
Trim42	A	T	9: 97,247,732 (GRCm39)	H321Q	probably damaging	Het
Trio	G	T	15: 27,732,726 (GRCm39)	Q3052K	probably benign	Het
Trpm3	T	C	19: 22,955,698 (GRCm39)	I1091T	probably benign	Het
Tst	T	C	15: 78,284,143 (GRCm39)	E228G	possibly damaging	Het
Ttn	T	C	2: 76,702,060 (GRCm39)		probably benign	Het
Uap1	A	C	1: 169,978,510 (GRCm39)		probably null	Het
Ush2a	T	C	1: 188,530,011 (GRCm39)	S3267P	possibly damaging	Het
Usp5	T	C	6: 124,802,129 (GRCm39)	T38A	probably benign	Het
Uvssa	A	T	5: 33,545,152 (GRCm39)	Q84L	probably damaging	Het
Vmn1r159	T	G	7: 22,542,693 (GRCm39)	H113P	probably damaging	Het
Vps13d	A	T	4: 144,824,742 (GRCm39)		probably null	Het
Zfp182	T	A	X: 20,897,799 (GRCm39)	I166L	probably benign	Het
Zfp811	A	T	17: 33,016,622 (GRCm39)	Y472N	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
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
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'- GCCATTGAAGATGAGCTTCGGGAAC -3'
(R):5'- ACCCAGGTAACTAAGGCAGTGACAG -3'

Sequencing Primer
(F):5'- TGAGCTTCGGGAACACATTG -3'
(R):5'- AGGCAGTGACAGACTTCCTTG -3'

Posted On

2014-04-13