Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01599:Uhrf2'

92022

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Uhrf2

Ensembl Gene

ENSMUSG00000024817

Gene Name

ubiquitin-like, containing PHD and RING finger domains 2

Synonyms

Nirf, 2310065A22Rik, D130071B19Rik

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.717) question?

Stock #

IGL01599

Quality Score

Status

Chromosome

Chromosomal Location

30007920-30071126 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 30069520 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Phenylalanine at position 749 (C749F)

Ref Sequence

ENSEMBL: ENSMUSP00000025739 (fasta)

Gene Model

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

AlphaFold

Q7TMI3

Predicted Effect

probably damaging
Transcript: ENSMUST00000025739
AA Change: C749F

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

SMART Domains

Protein: ENSMUSP00000025739
Gene: ENSMUSG00000024817
AA Change: C749F

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: ENSMUST00000127244

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000143769

Coding Region Coverage

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: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ackr3	T	C	1: 90,141,856 (GRCm39)	V105A	probably benign	Het
Acr	T	C	15: 89,452,617 (GRCm39)	V18A	probably benign	Het
Adgra2	G	A	8: 27,608,761 (GRCm39)	A540T	possibly damaging	Het
Aldh16a1	A	G	7: 44,791,517 (GRCm39)	F753L	probably damaging	Het
Ankfy1	T	A	11: 72,629,191 (GRCm39)	Y338N	probably benign	Het
Aox3	C	T	1: 58,208,953 (GRCm39)	R829C	probably damaging	Het
Arhgef11	T	C	3: 87,644,353 (GRCm39)	S1535P	probably benign	Het
C4b	A	G	17: 34,961,993 (GRCm39)		probably benign	Het
Ccdc157	A	G	11: 4,098,781 (GRCm39)	C242R	probably damaging	Het
Cep135	T	A	5: 76,741,194 (GRCm39)	M90K	possibly damaging	Het
Cfap36	A	T	11: 29,194,057 (GRCm39)		probably null	Het
Chl1	A	G	6: 103,685,445 (GRCm39)	T829A	probably benign	Het
Copb2	T	C	9: 98,463,203 (GRCm39)	S473P	probably damaging	Het
Cpb1	C	T	3: 20,306,118 (GRCm39)		probably null	Het
Cpsf1	A	G	15: 76,480,741 (GRCm39)	L1295P	probably damaging	Het
Dmp1	C	T	5: 104,360,328 (GRCm39)	Q335*	probably null	Het
Dyrk1a	T	A	16: 94,492,743 (GRCm39)	S621T	possibly damaging	Het
Exoc5	T	A	14: 49,272,421 (GRCm39)	Q331L	probably benign	Het
Fmnl1	G	A	11: 103,077,482 (GRCm39)	V287M	probably damaging	Het
Fras1	T	C	5: 96,857,750 (GRCm39)	S2015P	possibly damaging	Het
Gm7052	T	C	17: 22,258,985 (GRCm39)		probably benign	Het
Gprc5c	A	G	11: 114,755,078 (GRCm39)	I252V	probably benign	Het
Ints3	C	T	3: 90,301,629 (GRCm39)		probably null	Het
L1td1	A	G	4: 98,625,581 (GRCm39)	D592G	probably damaging	Het
Lamb3	A	G	1: 193,025,720 (GRCm39)	M1137V	probably benign	Het
Leng8	C	A	7: 4,148,481 (GRCm39)	A751E	probably benign	Het
Lfng	T	C	5: 140,598,290 (GRCm39)	V204A	probably damaging	Het
Lsm14b	A	G	2: 179,674,396 (GRCm39)	D233G	probably damaging	Het
Map4	C	T	9: 109,863,836 (GRCm39)	P354S	probably benign	Het
Mapt	G	A	11: 104,185,741 (GRCm39)	V53M	probably damaging	Het
Mier1	T	G	4: 103,012,738 (GRCm39)	S377A	possibly damaging	Het
Neurog1	T	C	13: 56,399,660 (GRCm39)	D29G	probably damaging	Het
Npr3	G	A	15: 11,895,875 (GRCm39)	A257V	probably damaging	Het
Nup188	T	C	2: 30,217,537 (GRCm39)	V824A	possibly damaging	Het
Olfm4	T	C	14: 80,258,750 (GRCm39)	S333P	probably damaging	Het
Or7g30	T	G	9: 19,353,111 (GRCm39)	F301V	probably benign	Het
Or9a4	A	C	6: 40,549,186 (GRCm39)	I289L	probably damaging	Het
Pbxip1	C	A	3: 89,350,897 (GRCm39)		probably benign	Het
Pde9a	G	T	17: 31,633,124 (GRCm39)	C38F	probably damaging	Het
Plb1	A	T	5: 32,499,888 (GRCm39)		probably benign	Het
Plcz1	T	C	6: 139,947,982 (GRCm39)		probably benign	Het
Plxnb1	T	C	9: 108,939,672 (GRCm39)	V1447A	probably damaging	Het
Pnldc1	A	T	17: 13,125,415 (GRCm39)	M73K	probably benign	Het
Psg20	C	T	7: 18,414,963 (GRCm39)	V311M	possibly damaging	Het
Psmd2	G	T	16: 20,478,155 (GRCm39)		probably null	Het
Rabgap1	T	C	2: 37,446,281 (GRCm39)	V859A	probably damaging	Het
Rad51b	T	A	12: 79,374,002 (GRCm39)	S194T	probably benign	Het
Rb1cc1	C	T	1: 6,318,995 (GRCm39)	Q788*	probably null	Het
Ror2	C	T	13: 53,265,653 (GRCm39)	G468R	probably damaging	Het
Slamf7	A	G	1: 171,468,754 (GRCm39)	I46T	possibly damaging	Het
Stab2	A	G	10: 86,758,759 (GRCm39)	S1060P	probably damaging	Het
Syndig1	T	A	2: 149,845,203 (GRCm39)	V242E	probably damaging	Het
Tgfbr3	G	A	5: 107,266,317 (GRCm39)	T801M	probably damaging	Het
Tmem132c	T	C	5: 127,436,616 (GRCm39)		probably benign	Het
Trav21-dv12	T	C	14: 54,114,188 (GRCm39)	Y103H	probably damaging	Het
Tut4	T	C	4: 108,370,596 (GRCm39)	S871P	possibly damaging	Het
Ubr3	T	C	2: 69,768,522 (GRCm39)	V443A	probably damaging	Het
Ulk2	G	T	11: 61,682,262 (GRCm39)	S751*	probably null	Het
Wrn	G	A	8: 33,731,039 (GRCm39)	P1098S	possibly damaging	Het
Xrcc5	T	C	1: 72,385,508 (GRCm39)	V533A	possibly damaging	Het
Zc3h13	T	C	14: 75,547,163 (GRCm39)	S223P	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
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
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

Posted On

2013-12-09