Mutagenetix > Incidental Mutations

Incidental Mutation 'R0553:Rnf8'

45303

Institutional Source

Beutler Lab

Gene Symbol

Rnf8

Ensembl Gene

ENSMUSG00000090083

Gene Name

ring finger protein 8

Synonyms

AIP37, 3830404E21Rik

MMRRC Submission

038745-MU

Accession Numbers

Is this an essential gene?

Probably essential (E-score: 0.957) question?

Stock #

R0553 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

29614790-29641664 bp(+) (GRCm38)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

T to C at 29621639 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000133424 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000024817] [ENSMUST00000024817] [ENSMUST00000130871] [ENSMUST00000162588] [ENSMUST00000172485] [ENSMUST00000173449] [ENSMUST00000173449]

AlphaFold

Q8VC56

Predicted Effect

probably null
Transcript: ENSMUST00000024817

SMART Domains

Protein: ENSMUSP00000024817
Gene: ENSMUSG00000090083

Domain	Start	End	E-Value	Type
FHA	37	92	5.55e-8	SMART
low complexity region	116	130	N/A	INTRINSIC
low complexity region	299	317	N/A	INTRINSIC
RING	406	443	3.64e-7	SMART

Predicted Effect

probably null
Transcript: ENSMUST00000024817

SMART Domains

Protein: ENSMUSP00000024817
Gene: ENSMUSG00000090083

Domain	Start	End	E-Value	Type
FHA	37	92	5.55e-8	SMART
low complexity region	116	130	N/A	INTRINSIC
low complexity region	299	317	N/A	INTRINSIC
RING	406	443	3.64e-7	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000130871

SMART Domains

Protein: ENSMUSP00000117838
Gene: ENSMUSG00000098374

Domain	Start	End	E-Value	Type
FHA	37	92	5.55e-8	SMART
low complexity region	116	130	N/A	INTRINSIC
low complexity region	299	317	N/A	INTRINSIC
RING	406	443	3.64e-7	SMART
G_patch	524	570	1.93e-10	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000150388

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000161952

Predicted Effect

probably benign
Transcript: ENSMUST00000162588

SMART Domains

Protein: ENSMUSP00000124566
Gene: ENSMUSG00000090083

Domain	Start	End	E-Value	Type
PDB:2PIE\|A	11	103	2e-21	PDB
SCOP:d1g6ga_	38	85	1e-5	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000172485

SMART Domains

Protein: ENSMUSP00000134697
Gene: ENSMUSG00000090083

Domain	Start	End	E-Value	Type
Pfam:FHA	38	86	1.2e-6	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000173449

SMART Domains

Protein: ENSMUSP00000133424
Gene: ENSMUSG00000090083

Domain	Start	End	E-Value	Type
Pfam:FHA	1	52	2.5e-13	PFAM
low complexity region	59	73	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000173449

SMART Domains

Protein: ENSMUSP00000133424
Gene: ENSMUSG00000090083

Domain	Start	End	E-Value	Type
Pfam:FHA	1	52	2.5e-13	PFAM
low complexity region	59	73	N/A	INTRINSIC

Meta Mutation Damage Score

0.9503

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.6%
20x: 93.1%

Validation Efficiency

100% (42/42)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene contains a RING finger motif and an FHA domain. This protein has been shown to interact with several class II ubiquitin-conjugating enzymes (E2), including UBE2E1/UBCH6, UBE2E2, and UBE2E3, and may act as an ubiquitin ligase (E3) in the ubiquitination of certain nuclear proteins. This protein is also known to play a role in the DNA damage response and depletion of this protein causes cell growth inhibition and cell cycle arrest. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2012]
PHENOTYPE: Homozygous null mice are runted and display premature death, immune organ hypocellularity, reduced male fertility, impaired spermatogenesis, increased sensitivity to gamma-irradiation, increased chromosome breakage and tumor incidence, and a gene dose-dependent defect in class switch recombination. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 42 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
3632451O06Rik	T	C	14: 49,682,686	I729V	probably damaging	Het
9530002B09Rik	A	T	4: 122,702,335	M120L	unknown	Het
Adamts13	T	A	2: 26,991,334	C774*	probably null	Het
Amh	A	G	10: 80,806,176		probably benign	Het
Ccdc173	C	A	2: 69,789,441	R8L	probably damaging	Het
Cd40	G	A	2: 165,070,741	R204Q	probably benign	Het
Clhc1	A	C	11: 29,561,366		probably benign	Het
Fbxl17	G	A	17: 63,356,851	R67C	probably damaging	Het
Flg2	A	T	3: 93,203,584	H973L	unknown	Het
Fut2	T	A	7: 45,651,274	I25F	probably damaging	Het
Galnt7	T	C	8: 57,552,430		probably benign	Het
Gm438	T	A	4: 144,777,415	I389L	possibly damaging	Het
Gm7534	T	C	4: 134,202,518	T159A	possibly damaging	Het
Gm8909	G	T	17: 36,168,057	P100Q	probably damaging	Het
Gmppb	A	T	9: 108,049,797	M56L	probably benign	Het
Grm3	C	A	5: 9,570,048	A399S	probably benign	Het
Hey2	G	A	10: 30,840,489		probably benign	Het
Ift172	A	G	5: 31,275,842		probably benign	Het
Kcnh5	C	A	12: 75,137,673	C92F	probably benign	Het
Kdm1a	T	C	4: 136,555,298	D229G	probably damaging	Het
Klf11	C	G	12: 24,655,090	P164R	probably benign	Het
Klhl41	G	A	2: 69,670,210	R5Q	probably benign	Het
Krtcap3	T	C	5: 31,251,803	V6A	probably benign	Het
Ltbr	A	C	6: 125,313,388		probably null	Het
Mmp17	T	G	5: 129,598,670	S298A	probably benign	Het
Nacc2	T	A	2: 26,089,590	E278V	possibly damaging	Het
Olfr175-ps1	A	T	16: 58,824,155	Y185N	probably damaging	Het
Olfr875	T	A	9: 37,773,331	I224N	probably benign	Het
Otop2	C	T	11: 115,329,462	A376V	probably damaging	Het
Pdia2	T	C	17: 26,196,243	E504G	probably damaging	Het
Pdzph1	C	T	17: 58,922,727	V979M	probably damaging	Het
Pou5f1	A	G	17: 35,509,477	K86R	possibly damaging	Het
Ptprq	A	G	10: 107,710,627	F269L	probably benign	Het
Rb1	A	T	14: 73,211,712	C659*	probably null	Het
Rras	T	G	7: 45,020,556	I137M	probably benign	Het
Slc38a9	A	T	13: 112,714,198	H372L	probably damaging	Het
Spata9	T	C	13: 75,977,779		probably null	Het
Tas2r115	T	C	6: 132,737,959	T10A	probably benign	Het
Ttn	T	C	2: 76,798,893	E12621G	probably damaging	Het
Unc80	A	T	1: 66,506,669	I460F	probably damaging	Het
Wdr17	C	T	8: 54,693,096	A90T	possibly damaging	Het
Zbtb24	C	T	10: 41,451,997	A293V	possibly damaging	Het

Other mutations in Rnf8

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R1523:Rnf8	UTSW	17	29626972	missense	probably damaging	0.99
R1713:Rnf8	UTSW	17	29634761	missense	probably damaging	1.00
R1893:Rnf8	UTSW	17	29621550	missense	probably damaging	0.98
R4194:Rnf8	UTSW	17	29631668	unclassified	probably benign
R4985:Rnf8	UTSW	17	29626860	missense	possibly damaging	0.85
R5155:Rnf8	UTSW	17	29626630	missense	probably damaging	1.00
R5279:Rnf8	UTSW	17	29626706	missense	possibly damaging	0.88
R6789:Rnf8	UTSW	17	29635869	missense	probably damaging	1.00
R7623:Rnf8	UTSW	17	29629006	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- CCTGCAAAGAACCTCCCCTGTTAG -3'
(R):5'- GTGTCCTACCAAACCAGTGACTGTAAG -3'

Sequencing Primer
(F):5'- GCATAGTGACGGATTGTGTCTTAAC -3'
(R):5'- tctcccaactgcctgaaac -3'

Posted On

2013-06-11