Mutagenetix > Incidental Mutation

Incidental Mutation 'R0502:Uhrf2'

47228

Institutional Source

Beutler Lab

Gene Symbol

Uhrf2

Ensembl Gene

ENSMUSG00000024817

Gene Name

ubiquitin-like, containing PHD and RING finger domains 2

Synonyms

Nirf, 2310065A22Rik, D130071B19Rik

MMRRC Submission

038697-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.717) question?

Stock #

R0502 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

30007920-30071126 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 30070176 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 775 (D775G)

Ref Sequence

ENSEMBL: ENSMUSP00000025739 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000025739]

AlphaFold

Q7TMI3

Predicted Effect

probably damaging
Transcript: ENSMUST00000025739
AA Change: D775G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000025739
Gene: ENSMUSG00000024817
AA Change: D775G

Domain	Start	End	E-Value	Type
UBQ	1	74	8.95e-7	SMART
Pfam:TTD	125	313	2.2e-66	PFAM
PHD	347	394	9.54e-11	SMART
RING	348	393	1.38e0	SMART
SRA	444	617	2.82e-77	SMART
low complexity region	644	661	N/A	INTRINSIC
RING	734	772	3.67e-3	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000123773

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000143769

Meta Mutation Damage Score

0.2994

Coding Region Coverage

1x: 99.3%
3x: 98.6%
10x: 97.0%
20x: 94.7%

Validation Efficiency

100% (63/63)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a nuclear protein which is involved in cell-cycle regulation. The encoded protein is a ubiquitin-ligase capable of ubiquinating PCNP (PEST-containing nuclear protein), and together they may play a role in tumorigenesis. The encoded protein contains an NIRF_N domain, a PHD finger, a set- and ring-associated (SRA) domain, and a RING finger domain and several of these domains have been shown to be essential for the regulation of cell proliferation. This protein may also have a role in intranuclear degradation of polyglutamine aggregates. Alternative splicing results in multiple transcript variants some of which are non-protein coding. [provided by RefSeq, Feb 2012]
PHENOTYPE: Homozygous KO causes deregulated expression of neuron-related genes, reduced DNA methylation in the brain and impaired contextual conditioning and spatial memory. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9930111J21Rik1	T	C	11: 48,838,322 (GRCm39)	H755R	possibly damaging	Het
Ano1	A	G	7: 144,150,952 (GRCm39)	L821P	probably damaging	Het
Apol10b	T	A	15: 77,476,349 (GRCm39)		probably benign	Het
Atp2c2	A	G	8: 120,461,316 (GRCm39)	E279G	probably null	Het
Ccar2	A	G	14: 70,378,431 (GRCm39)	S625P	probably benign	Het
Ccdc110	A	G	8: 46,387,761 (GRCm39)		probably benign	Het
Cep350	A	T	1: 155,776,629 (GRCm39)		probably null	Het
Chd3	A	G	11: 69,244,931 (GRCm39)	V1203A	probably damaging	Het
Col24a1	A	G	3: 145,251,071 (GRCm39)		probably benign	Het
Col6a6	A	T	9: 105,644,550 (GRCm39)	M1246K	probably benign	Het
Crot	A	G	5: 9,026,075 (GRCm39)	V304A	possibly damaging	Het
Dapk1	T	A	13: 60,878,662 (GRCm39)		probably null	Het
Dicer1	A	T	12: 104,671,319 (GRCm39)	S984T	probably damaging	Het
Dmbt1	G	A	7: 130,699,403 (GRCm39)		probably null	Het
Dnah7b	A	T	1: 46,258,704 (GRCm39)	E1965V	probably damaging	Het
Dpp4	G	T	2: 62,195,332 (GRCm39)	N315K	probably damaging	Het
Eeig2	G	A	3: 108,900,001 (GRCm39)	R116C	probably damaging	Het
Fat4	T	A	3: 39,057,073 (GRCm39)	S4256R	probably damaging	Het
Fcho1	C	T	8: 72,165,204 (GRCm39)	A418T	probably benign	Het
Gpatch4	A	G	3: 87,962,672 (GRCm39)	D295G	probably benign	Het
Gpbar1	A	T	1: 74,318,551 (GRCm39)	I265F	probably benign	Het
Gria1	T	G	11: 57,080,542 (GRCm39)	V175G	probably damaging	Het
Hacl1	A	T	14: 31,344,941 (GRCm39)		probably benign	Het
Hnrnpc	A	G	14: 52,312,629 (GRCm39)		probably benign	Het
Hoxa13	CCG	CCGCG	6: 52,237,618 (GRCm39)		probably null	Het
Ifnar1	T	A	16: 91,298,639 (GRCm39)	C419S	probably damaging	Het
Irx4	T	A	13: 73,414,703 (GRCm39)		probably null	Het
Itga2	T	G	13: 114,982,392 (GRCm39)	N1038H	probably benign	Het
Kif16b	C	T	2: 142,554,075 (GRCm39)	D908N	probably benign	Het
Lamc1	A	G	1: 153,122,678 (GRCm39)		probably benign	Het
Lrig3	A	G	10: 125,844,605 (GRCm39)	T690A	probably damaging	Het
Lrp2	T	C	2: 69,341,361 (GRCm39)	K940E	probably damaging	Het
Macf1	A	G	4: 123,363,608 (GRCm39)	S1775P	probably damaging	Het
Mrps27	G	T	13: 99,546,303 (GRCm39)		probably benign	Het
Ncam1	A	G	9: 49,481,118 (GRCm39)		probably benign	Het
Nopchap1	A	G	10: 83,197,920 (GRCm39)	D42G	probably damaging	Het
Or2z2	T	C	11: 58,346,140 (GRCm39)	I212V	possibly damaging	Het
Or51a5	A	T	7: 102,771,643 (GRCm39)	M112K	possibly damaging	Het
Pbrm1	T	G	14: 30,786,777 (GRCm39)	D631E	probably benign	Het
Pdc	A	T	1: 150,204,165 (GRCm39)		probably benign	Het
Pkd1	T	C	17: 24,793,766 (GRCm39)	S1818P	probably damaging	Het
Ptpru	T	C	4: 131,520,954 (GRCm39)	N784S	probably benign	Het
Rab35	G	A	5: 115,783,723 (GRCm39)	R170Q	probably benign	Het
Rerg	A	T	6: 137,033,305 (GRCm39)	C123*	probably null	Het
Ros1	A	G	10: 52,070,919 (GRCm39)		probably benign	Het
Siglece	A	G	7: 43,309,355 (GRCm39)	Y68H	probably damaging	Het
Slc28a2	T	A	2: 122,288,762 (GRCm39)		probably null	Het
Slc4a11	T	C	2: 130,530,077 (GRCm39)	K234E	probably damaging	Het
Sqor	C	T	2: 122,639,970 (GRCm39)	P158S	probably benign	Het
Tcerg1	C	T	18: 42,656,021 (GRCm39)	P110S	unknown	Het
Tm6sf2	T	A	8: 70,530,591 (GRCm39)	Y224N	probably damaging	Het
Tmem39b	A	C	4: 129,580,779 (GRCm39)	Y238D	possibly damaging	Het
Ttll10	T	C	4: 156,132,005 (GRCm39)		probably benign	Het
Ubap2l	A	T	3: 89,916,520 (GRCm39)	L898Q	probably damaging	Het
Uggt1	A	T	1: 36,199,027 (GRCm39)	V1207E	probably damaging	Het
Utp25	A	T	1: 192,797,136 (GRCm39)		probably benign	Het
Vmn1r196	G	A	13: 22,477,557 (GRCm39)	M65I	probably benign	Het
Vmn1r87	T	G	7: 12,865,583 (GRCm39)	T235P	probably damaging	Het
Vmn2r96	T	A	17: 18,804,262 (GRCm39)	M504K	probably benign	Het
Zdbf2	A	T	1: 63,344,449 (GRCm39)	I943F	possibly damaging	Het
Zfp78	A	G	7: 6,376,157 (GRCm39)	D22G	probably damaging	Het
Zfp827	C	T	8: 79,905,706 (GRCm39)		probably null	Het
Zfyve9	A	T	4: 108,576,961 (GRCm39)	L40*	probably null	Het

Other mutations in Uhrf2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00235:Uhrf2	APN	19	30,051,346 (GRCm39)	missense	probably benign	0.03
IGL01290:Uhrf2	APN	19	30,016,701 (GRCm39)	splice site	probably benign
IGL01599:Uhrf2	APN	19	30,069,520 (GRCm39)	missense	probably damaging	1.00
IGL01724:Uhrf2	APN	19	30,052,652 (GRCm39)	missense	probably benign	0.29
IGL01861:Uhrf2	APN	19	30,063,804 (GRCm39)	missense	probably damaging	1.00
IGL02182:Uhrf2	APN	19	30,016,609 (GRCm39)	missense	probably benign
IGL02673:Uhrf2	APN	19	30,070,207 (GRCm39)	missense	probably damaging	1.00
R1136:Uhrf2	UTSW	19	30,033,626 (GRCm39)	splice site	probably benign
R1510:Uhrf2	UTSW	19	30,016,461 (GRCm39)	splice site	probably benign
R2110:Uhrf2	UTSW	19	30,033,888 (GRCm39)	missense	probably damaging	1.00
R3760:Uhrf2	UTSW	19	30,051,331 (GRCm39)	missense	probably benign	0.20
R3951:Uhrf2	UTSW	19	30,057,261 (GRCm39)	missense	probably damaging	1.00
R3967:Uhrf2	UTSW	19	30,057,315 (GRCm39)	missense	probably damaging	1.00
R3970:Uhrf2	UTSW	19	30,057,315 (GRCm39)	missense	probably damaging	1.00
R5129:Uhrf2	UTSW	19	30,052,621 (GRCm39)	missense	probably benign	0.00
R5568:Uhrf2	UTSW	19	30,016,488 (GRCm39)	missense	probably damaging	1.00
R5875:Uhrf2	UTSW	19	30,066,702 (GRCm39)	missense	probably damaging	1.00
R7053:Uhrf2	UTSW	19	30,069,519 (GRCm39)	missense	probably damaging	1.00
R7079:Uhrf2	UTSW	19	30,060,190 (GRCm39)	missense	probably null	1.00
R7298:Uhrf2	UTSW	19	30,065,949 (GRCm39)	missense	probably benign
R7382:Uhrf2	UTSW	19	30,048,788 (GRCm39)	missense	possibly damaging	0.90
R7575:Uhrf2	UTSW	19	30,048,768 (GRCm39)	missense	probably damaging	1.00
R7730:Uhrf2	UTSW	19	30,052,501 (GRCm39)	missense	probably damaging	1.00
R7959:Uhrf2	UTSW	19	30,063,660 (GRCm39)	missense	probably damaging	1.00
R8196:Uhrf2	UTSW	19	30,051,329 (GRCm39)	missense	probably benign
R9028:Uhrf2	UTSW	19	30,066,744 (GRCm39)	critical splice donor site	probably null
R9052:Uhrf2	UTSW	19	30,070,236 (GRCm39)	missense	probably damaging	1.00
R9290:Uhrf2	UTSW	19	30,055,416 (GRCm39)	missense	probably damaging	1.00
R9430:Uhrf2	UTSW	19	30,016,659 (GRCm39)	missense	probably benign	0.00
R9697:Uhrf2	UTSW	19	30,063,780 (GRCm39)	missense	probably damaging	0.99
R9712:Uhrf2	UTSW	19	30,033,881 (GRCm39)	missense	possibly damaging	0.75
RF020:Uhrf2	UTSW	19	30,063,791 (GRCm39)	missense	probably damaging	1.00
X0020:Uhrf2	UTSW	19	30,066,745 (GRCm39)	critical splice donor site	probably null
Z1177:Uhrf2	UTSW	19	30,057,261 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GCTGCACTGCAAACTGAAACACTTG -3'
(R):5'- AAGACATGGTCCAGCTCTGCTTTAC -3'

Sequencing Primer
(F):5'- CATTTAGTAAAAGGTCGGGATGCTC -3'
(R):5'- ACCCCTCCCACTCATTGTAAG -3'

Posted On

2013-06-12