Mutagenetix > Incidental Mutation

Incidental Mutation 'R5279:Rnf8'

404144

Institutional Source

Beutler Lab

Gene Symbol

Rnf8

Ensembl Gene

ENSMUSG00000090083

Gene Name

ring finger protein 8

Synonyms

3830404E21Rik, AIP37

MMRRC Submission

042839-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.957) question?

Stock #

R5279 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

29833763-29860638 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 29845680 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Glutamine at position 104 (H104Q)

Ref Sequence

ENSEMBL: ENSMUSP00000124566 (fasta)

Gene Model

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

AlphaFold

Q8VC56

Predicted Effect

probably benign
Transcript: ENSMUST00000024817
AA Change: H147Q

PolyPhen 2 Score 0.177 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000024817
Gene: ENSMUSG00000090083
AA Change: H147Q

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

possibly damaging
Transcript: ENSMUST00000130871
AA Change: H147Q

PolyPhen 2 Score 0.720 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000117838
Gene: ENSMUSG00000098374
AA Change: H147Q

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: ENSMUST00000161242

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000162417

Predicted Effect

possibly damaging
Transcript: ENSMUST00000162588
AA Change: H104Q

PolyPhen 2 Score 0.881 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000124566
Gene: ENSMUSG00000090083
AA Change: H104Q

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

possibly damaging
Transcript: ENSMUST00000173449
AA Change: H90Q

PolyPhen 2 Score 0.600 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000133424
Gene: ENSMUSG00000090083
AA Change: H90Q

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

0.1795

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.3%
20x: 95.4%

Validation Efficiency

99% (73/74)

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: 69 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca17	C	A	17: 24,508,388 (GRCm39)	G1049V	probably damaging	Het
Afdn	G	A	17: 14,109,214 (GRCm39)	R1579H	probably damaging	Het
Ankrd28	T	A	14: 31,456,963 (GRCm39)	N386Y	probably damaging	Het
Atf7ip	T	A	6: 136,580,377 (GRCm39)	Y1100*	probably null	Het
Atp9b	T	A	18: 80,956,073 (GRCm39)	E3V	probably damaging	Het
AW554918	T	G	18: 25,308,488 (GRCm39)	D60E	possibly damaging	Het
Baz2b	G	T	2: 59,762,496 (GRCm39)	Q927K	probably damaging	Het
Birc6	A	G	17: 74,957,042 (GRCm39)	R3659G	probably damaging	Het
C8a	T	G	4: 104,703,185 (GRCm39)	N291H	probably damaging	Het
Calcoco1	G	A	15: 102,619,420 (GRCm39)	L390F	probably damaging	Het
Carmil3	A	G	14: 55,739,028 (GRCm39)	D894G	probably damaging	Het
Cdc20	A	G	4: 118,290,711 (GRCm39)	Y430H	probably damaging	Het
Cdc6	A	T	11: 98,803,088 (GRCm39)	I316F	probably damaging	Het
Ceacam23	T	A	7: 17,607,214 (GRCm39)		noncoding transcript	Het
Cenpu	T	A	8: 47,031,945 (GRCm39)		probably null	Het
Csmd2	T	A	4: 128,350,707 (GRCm39)	V1592D	probably benign	Het
Csmd3	G	T	15: 48,655,340 (GRCm39)		probably null	Het
Dnah7c	T	C	1: 46,558,429 (GRCm39)	F512L	probably benign	Het
Fam136a	T	A	6: 86,343,686 (GRCm39)	L61Q	probably damaging	Het
Fpgs	A	C	2: 32,582,779 (GRCm39)		probably benign	Het
Fzd4	G	A	7: 89,056,881 (GRCm39)	M309I	probably benign	Het
Gad2	A	G	2: 22,563,969 (GRCm39)	T391A	probably benign	Het
Gm11563	A	T	11: 99,549,539 (GRCm39)	S72T	unknown	Het
Gon4l	A	G	3: 88,794,944 (GRCm39)	I716V	probably benign	Het
Itga9	T	C	9: 118,457,273 (GRCm39)	V128A	probably damaging	Het
Kat6a	CGCAGCAGCAGCAGCAGCA	CGCAGCAGCAGCA	8: 23,429,664 (GRCm39)		probably benign	Het
Lrrc9	T	A	12: 72,542,368 (GRCm39)	D1063E	possibly damaging	Het
Lyst	T	A	13: 13,823,387 (GRCm39)	L1453*	probably null	Het
Mcm3ap	T	C	10: 76,343,373 (GRCm39)	V1755A	probably damaging	Het
Mrc1	T	C	2: 14,314,869 (GRCm39)	S985P	probably damaging	Het
Mst1	A	C	9: 107,959,414 (GRCm39)	K233N	probably damaging	Het
Nr2c2ap	G	A	8: 70,584,653 (GRCm39)	D42N	probably damaging	Het
Ntn1	A	G	11: 68,276,538 (GRCm39)	S137P	probably benign	Het
Pard3	T	C	8: 128,186,867 (GRCm39)		probably null	Het
Pcdh15	T	A	10: 74,430,015 (GRCm39)	D1210E	probably damaging	Het
Pcdhga5	T	C	18: 37,827,774 (GRCm39)	L74P	probably benign	Het
Pcsk5	T	C	19: 17,573,022 (GRCm39)		probably null	Het
Pdia3	T	C	2: 121,244,484 (GRCm39)		probably benign	Het
Pikfyve	A	T	1: 65,235,858 (GRCm39)	R177*	probably null	Het
Pklr	A	G	3: 89,050,566 (GRCm39)	E409G	probably damaging	Het
Plod2	T	C	9: 92,463,376 (GRCm39)	Y154H	probably damaging	Het
Psmc3	T	A	2: 90,884,667 (GRCm39)	D6E	probably benign	Het
Ptpru	T	A	4: 131,547,334 (GRCm39)	N205I	possibly damaging	Het
Rbm6	T	C	9: 107,655,213 (GRCm39)	E1006G	probably benign	Het
Rgl2	T	C	17: 34,154,922 (GRCm39)	V642A	probably benign	Het
Robo4	CGG	CG	9: 37,322,786 (GRCm39)		probably null	Het
Rpa1	T	C	11: 75,204,170 (GRCm39)	N269S	probably damaging	Het
Sdk2	A	G	11: 113,757,857 (GRCm39)	M519T	probably benign	Het
Snx30	A	G	4: 59,885,070 (GRCm39)	S237G	probably benign	Het
Spx	A	G	6: 142,359,766 (GRCm39)	N36S	probably damaging	Het
Stard7	T	C	2: 127,137,416 (GRCm39)	Y289H	probably damaging	Het
Sugp2	T	C	8: 70,709,757 (GRCm39)		probably benign	Het
Susd4	C	T	1: 182,715,043 (GRCm39)	T288I	probably damaging	Het
Tceanc2	T	A	4: 107,034,826 (GRCm39)		probably null	Het
Tm4sf4	T	G	3: 57,341,159 (GRCm39)	V97G	probably benign	Het
Tmtc1	C	T	6: 148,256,629 (GRCm39)		probably benign	Het
Trappc11	C	T	8: 47,958,339 (GRCm39)		probably benign	Het
Triobp	G	T	15: 78,878,591 (GRCm39)	V398F	possibly damaging	Het
Ttll9	T	A	2: 152,804,464 (GRCm39)	S2T	possibly damaging	Het
Ttn	T	C	2: 76,731,320 (GRCm39)		probably benign	Het
Tyw3	A	G	3: 154,300,108 (GRCm39)	C80R	probably damaging	Het
Usp24	T	C	4: 106,242,621 (GRCm39)	V1177A	possibly damaging	Het
Vmn1r65	A	G	7: 6,011,754 (GRCm39)	V160A	probably damaging	Het
Vmn2r104	T	A	17: 20,262,146 (GRCm39)	H328L	probably benign	Het
Vmn2r65	A	C	7: 84,589,849 (GRCm39)	I689S	probably damaging	Het
Wrn	A	G	8: 33,731,129 (GRCm39)	Y1068H	probably damaging	Het
Xpo4	C	A	14: 57,850,866 (GRCm39)	S346I	probably benign	Het
Zc3h3	T	A	15: 75,711,439 (GRCm39)	T341S	probably benign	Het
Zxdc	T	C	6: 90,347,419 (GRCm39)	M260T	possibly damaging	Het

Other mutations in Rnf8

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R0553:Rnf8	UTSW	17	29,840,613 (GRCm39)	critical splice donor site	probably null
R1523:Rnf8	UTSW	17	29,845,946 (GRCm39)	missense	probably damaging	0.99
R1713:Rnf8	UTSW	17	29,853,735 (GRCm39)	missense	probably damaging	1.00
R1893:Rnf8	UTSW	17	29,840,524 (GRCm39)	missense	probably damaging	0.98
R4194:Rnf8	UTSW	17	29,850,642 (GRCm39)	unclassified	probably benign
R4985:Rnf8	UTSW	17	29,845,834 (GRCm39)	missense	possibly damaging	0.85
R5155:Rnf8	UTSW	17	29,845,604 (GRCm39)	missense	probably damaging	1.00
R6789:Rnf8	UTSW	17	29,854,843 (GRCm39)	missense	probably damaging	1.00
R7623:Rnf8	UTSW	17	29,847,980 (GRCm39)	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- TTTCCCCAGAGTCTGAATGGTG -3'
(R):5'- TTCAGAGAAGTCAGCCCAGG -3'

Sequencing Primer
(F):5'- TGTTTGGCTGAACAGAGAACGTC -3'
(R):5'- GAAGTCAGCCCAGGACACAAG -3'

Posted On

2016-07-22