Mutagenetix > Incidental Mutation

Incidental Mutation 'R2110:Uhrf2'

232509

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

040114-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.717) question?

Stock #

R2110 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

30007920-30071126 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 30033888 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 200 (Y200C)

Ref Sequence

ENSEMBL: ENSMUSP00000108171 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000025739] [ENSMUST00000112552]

AlphaFold

Q7TMI3

Predicted Effect

probably damaging
Transcript: ENSMUST00000025739
AA Change: Y214C

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000025739
Gene: ENSMUSG00000024817
AA Change: Y214C

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

probably damaging
Transcript: ENSMUST00000112552
AA Change: Y200C

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000108171
Gene: ENSMUSG00000024817
AA Change: Y200C

Domain	Start	End	E-Value	Type
Blast:UBQ	1	60	3e-32	BLAST
PDB:1WY8\|A	1	68	2e-34	PDB
SCOP:d1lm8b_	1	91	2e-8	SMART
Pfam:DUF3590	164	202	6.1e-9	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000134518

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000137368

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.0%

Validation Efficiency

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: 67 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9330161L09Rik	T	C	12: 103,373,848 (GRCm39)		probably benign	Het
Ablim1	T	C	19: 57,032,245 (GRCm39)	D638G	possibly damaging	Het
Adam1b	A	G	5: 121,638,777 (GRCm39)		probably benign	Het
Aim2	T	C	1: 173,287,279 (GRCm39)	M93T	probably benign	Het
Alpk2	T	C	18: 65,440,151 (GRCm39)	E414G	possibly damaging	Het
Ap1b1	T	C	11: 4,965,613 (GRCm39)	F51L	probably damaging	Het
Bard1	T	A	1: 71,114,550 (GRCm39)	K144*	probably null	Het
Begain	G	T	12: 108,999,843 (GRCm39)	Y514*	probably null	Het
Ccdc186	A	T	19: 56,788,574 (GRCm39)	I545N	possibly damaging	Het
Cfap251	G	A	5: 123,392,438 (GRCm39)		probably benign	Het
Cfap43	T	C	19: 47,824,197 (GRCm39)	Y58C	probably damaging	Het
Cfap54	A	T	10: 92,722,229 (GRCm39)	D2437E	unknown	Het
Chd2	A	G	7: 73,079,735 (GRCm39)	S1722P	probably benign	Het
Clec5a	C	T	6: 40,562,137 (GRCm39)	G9E	probably damaging	Het
Cog4	A	G	8: 111,585,214 (GRCm39)	Y292C	possibly damaging	Het
Col3a1	C	T	1: 45,369,305 (GRCm39)	P331S	unknown	Het
Ctsk	T	C	3: 95,413,988 (GRCm39)	I245T	probably benign	Het
Dthd1	T	C	5: 62,979,251 (GRCm39)	Y304H	probably damaging	Het
Dthd1	T	C	5: 63,000,222 (GRCm39)	S515P	probably damaging	Het
Dtx2	C	T	5: 136,059,431 (GRCm39)	S493F	probably damaging	Het
Eci2	A	G	13: 35,174,699 (GRCm39)		probably null	Het
Ecm1	C	T	3: 95,643,254 (GRCm39)	A349T	probably benign	Het
Efemp2	A	G	19: 5,525,190 (GRCm39)	E32G	probably damaging	Het
Flt4	C	A	11: 49,516,131 (GRCm39)	T78K	probably benign	Het
Foxg1	A	G	12: 49,431,708 (GRCm39)		probably benign	Het
Fv1	T	C	4: 147,954,619 (GRCm39)	V395A	possibly damaging	Het
Gcfc2	C	A	6: 81,900,759 (GRCm39)	D24E	probably benign	Het
Gpha2	T	G	19: 6,277,532 (GRCm39)	V96G	probably damaging	Het
Gse1	A	G	8: 121,293,719 (GRCm39)	Y228C	probably damaging	Het
Hmgxb3	T	C	18: 61,288,458 (GRCm39)	R470G	possibly damaging	Het
Ildr1	A	G	16: 36,542,341 (GRCm39)	E247G	probably damaging	Het
Ktn1	T	A	14: 47,931,345 (GRCm39)	M646K	possibly damaging	Het
Lrrc37a	T	A	11: 103,388,648 (GRCm39)	H2259L	unknown	Het
Map1b	A	T	13: 99,567,629 (GRCm39)	H1697Q	unknown	Het
Mdn1	A	G	4: 32,700,409 (GRCm39)	E1456G	probably damaging	Het
Mta1	C	T	12: 113,095,248 (GRCm39)	T467I	probably damaging	Het
Nav1	C	T	1: 135,376,742 (GRCm39)	R1694Q	probably damaging	Het
Ncoa5	C	A	2: 164,854,838 (GRCm39)	D95Y	possibly damaging	Het
Nfatc1	A	T	18: 80,678,879 (GRCm39)	C836*	probably null	Het
Nr3c2	T	C	8: 77,635,156 (GRCm39)	S86P	possibly damaging	Het
Nup153	A	G	13: 46,837,404 (GRCm39)	S1273P	probably benign	Het
Or8g52	G	A	9: 39,631,018 (GRCm39)	R165Q	probably benign	Het
Pcsk5	C	A	19: 17,450,423 (GRCm39)	G1142C	probably damaging	Het
Pgghg	A	G	7: 140,523,453 (GRCm39)	D244G	possibly damaging	Het
Polr1has	T	C	17: 37,276,336 (GRCm39)	V306A	possibly damaging	Het
Ppargc1b	G	A	18: 61,444,321 (GRCm39)	P297S	probably benign	Het
Rad52	A	T	6: 119,897,855 (GRCm39)	Q356L	possibly damaging	Het
Rhpn1	T	A	15: 75,585,083 (GRCm39)	F507I	probably damaging	Het
Rhpn2	T	C	7: 35,076,433 (GRCm39)	M328T	probably benign	Het
Rnf19a	T	C	15: 36,254,665 (GRCm39)	I298V	possibly damaging	Het
Rwdd2a	T	C	9: 86,456,184 (GRCm39)	V120A	probably benign	Het
Scml2	G	T	X: 160,014,442 (GRCm39)	E566D	possibly damaging	Het
Serpina3a	G	A	12: 104,082,481 (GRCm39)	A85T	probably damaging	Het
Slc16a11	G	A	11: 70,106,146 (GRCm39)	G80D	probably damaging	Het
Slc5a5	A	T	8: 71,342,395 (GRCm39)		probably null	Het
Sparcl1	T	A	5: 104,236,289 (GRCm39)	Q488L	probably damaging	Het
Spg21	T	A	9: 65,391,711 (GRCm39)		probably null	Het
Spopfm2	A	G	3: 94,082,834 (GRCm39)	S326P	probably damaging	Het
Sry	T	C	Y: 2,662,901 (GRCm39)	H253R	unknown	Het
Swt1	A	G	1: 151,279,636 (GRCm39)	S391P	probably damaging	Het
Utp15	T	C	13: 98,391,493 (GRCm39)	H248R	probably damaging	Het
Utp20	A	G	10: 88,603,313 (GRCm39)		probably null	Het
Vcan	T	A	13: 89,841,422 (GRCm39)	D414V	probably damaging	Het
Vmn1r56	A	T	7: 5,199,179 (GRCm39)	M146K	probably damaging	Het
Zfp143	A	T	7: 109,685,453 (GRCm39)	K399N	probably damaging	Het
Zfp516	A	G	18: 82,975,536 (GRCm39)	D578G	probably damaging	Het
Zfp90	G	A	8: 107,152,120 (GRCm39)	C611Y	probably damaging	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
R0502:Uhrf2	UTSW	19	30,070,176 (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
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'- TGGTGGATGCCAGAGATGTC -3'
(R):5'- AGGCCCTTACTGTTGGGTAAC -3'

Sequencing Primer
(F):5'- CTAGAGCTTCTGATGGACATTCACG -3'
(R):5'- GTTGGGTAACAATCTCTAAACACGC -3'

Posted On

2014-09-18