Mutagenetix > Incidental Mutation

Incidental Mutation 'R5061:Uhrf1'

386651

Institutional Source

Beutler Lab

Gene Symbol

Uhrf1

Ensembl Gene

ENSMUSG00000001228

Gene Name

ubiquitin-like, containing PHD and RING finger domains, 1

Synonyms

Np95, ICBP90

MMRRC Submission

042651-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R5061 (G1)

Quality Score

156

Status

Validated

Chromosome

Chromosomal Location

56610405-56630486 bp(+) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

G to T at 56627542 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000108662 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000001258] [ENSMUST00000113035] [ENSMUST00000113038] [ENSMUST00000113039]

AlphaFold

Q8VDF2

Predicted Effect

probably null
Transcript: ENSMUST00000001258

SMART Domains

Protein: ENSMUSP00000001258
Gene: ENSMUSG00000001228

Domain	Start	End	E-Value	Type
UBQ	1	74	9.37e-10	SMART
Pfam:DUF3590	136	232	1.1e-42	PFAM
PHD	322	369	6.39e-12	SMART
RING	323	368	1.09e0	SMART
low complexity region	381	398	N/A	INTRINSIC
SRA	419	590	8.5e-113	SMART
low complexity region	635	653	N/A	INTRINSIC
RING	713	751	8.43e-3	SMART

Predicted Effect

probably null
Transcript: ENSMUST00000113035

SMART Domains

Protein: ENSMUSP00000108658
Gene: ENSMUSG00000001228

Domain	Start	End	E-Value	Type
UBQ	1	74	9.37e-10	SMART
Pfam:DUF3590	136	232	1.1e-42	PFAM
PHD	314	361	6.39e-12	SMART
RING	315	360	1.09e0	SMART
low complexity region	373	390	N/A	INTRINSIC
SRA	411	582	8.5e-113	SMART
low complexity region	627	645	N/A	INTRINSIC
RING	705	743	8.43e-3	SMART

Predicted Effect

probably null
Transcript: ENSMUST00000113038

SMART Domains

Protein: ENSMUSP00000108661
Gene: ENSMUSG00000001228

Domain	Start	End	E-Value	Type
UBQ	1	74	9.37e-10	SMART
Pfam:DUF3590	136	232	1.1e-42	PFAM
PHD	314	361	6.39e-12	SMART
RING	315	360	1.09e0	SMART
low complexity region	373	390	N/A	INTRINSIC
SRA	411	582	8.5e-113	SMART
low complexity region	627	645	N/A	INTRINSIC
RING	705	743	8.43e-3	SMART

Predicted Effect

probably null
Transcript: ENSMUST00000113039

SMART Domains

Protein: ENSMUSP00000108662
Gene: ENSMUSG00000001228

Domain	Start	End	E-Value	Type
UBQ	1	74	9.37e-10	SMART
Pfam:TTD	128	281	8e-61	PFAM
PHD	322	369	6.39e-12	SMART
RING	323	368	1.09e0	SMART
low complexity region	381	398	N/A	INTRINSIC
SRA	419	590	8.5e-113	SMART
low complexity region	635	653	N/A	INTRINSIC
RING	713	751	8.43e-3	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000139654

Meta Mutation Damage Score

0.9755

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.8%
20x: 93.7%

Validation Efficiency

100% (71/71)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of a subfamily of RING-finger type E3 ubiquitin ligases. The protein binds to specific DNA sequences, and recruits a histone deacetylase to regulate gene expression. Its expression peaks at late G1 phase and continues during G2 and M phases of the cell cycle. It plays a major role in the G1/S transition by regulating topoisomerase IIalpha and retinoblastoma gene expression, and functions in the p53-dependent DNA damage checkpoint. It is regarded as a hub protein for the integration of epigenetic information. This gene is up-regulated in various cancers, and it is therefore considered to be a therapeutic target. Multiple transcript variants encoding different isoforms have been found for this gene. A related pseudogene exists on chromosome 12. [provided by RefSeq, Feb 2014]
PHENOTYPE: Mice homozygous for disruption of this marker die early in gestation showing growth retardation and various malformations. [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
1700009N14Rik	A	G	4: 39,450,953 (GRCm39)	H53R	probably benign	Het
Abcg1	A	G	17: 31,311,366 (GRCm39)	K124E	probably damaging	Het
Acot4	G	T	12: 84,085,475 (GRCm39)	R64L	probably benign	Het
Adam22	G	C	5: 8,230,238 (GRCm39)		probably benign	Het
Add2	G	A	6: 86,064,029 (GRCm39)		probably null	Het
Adgrb3	G	A	1: 25,107,209 (GRCm39)		probably benign	Het
Akap8l	T	G	17: 32,551,868 (GRCm39)	K441T	probably damaging	Het
Aspn	T	A	13: 49,720,080 (GRCm39)	S365R	probably damaging	Het
Atxn1	T	G	13: 45,710,569 (GRCm39)	K788Q	probably damaging	Het
Atxn2l	G	T	7: 126,099,375 (GRCm39)	H135N	probably damaging	Het
Borcs8	T	G	8: 70,593,008 (GRCm39)		probably null	Het
Col5a1	G	A	2: 27,842,390 (GRCm39)	D422N	unknown	Het
Cstad	A	T	2: 30,498,275 (GRCm39)	T37S	unknown	Het
Dgkq	A	T	5: 108,801,989 (GRCm39)	D455E	probably benign	Het
Dop1a	T	C	9: 86,385,161 (GRCm39)		probably benign	Het
Ebf3	T	C	7: 136,915,288 (GRCm39)	I84V	possibly damaging	Het
Ehmt2	C	T	17: 35,118,067 (GRCm39)	R40*	probably null	Het
Eif3e	A	T	15: 43,115,657 (GRCm39)	W370R	probably damaging	Het
Eya3	T	A	4: 132,431,689 (GRCm39)	D323E	probably damaging	Het
F5	T	C	1: 164,021,749 (GRCm39)	L1408P	probably benign	Het
Fam110d	T	C	4: 133,979,041 (GRCm39)	T146A	probably benign	Het
Gfod1	C	T	13: 43,353,992 (GRCm39)	G328S	probably benign	Het
Gja1	T	A	10: 56,263,752 (GRCm39)	L37Q	probably damaging	Het
Gm10650	T	A	3: 127,833,666 (GRCm39)		noncoding transcript	Het
Gm14226	T	A	2: 154,867,106 (GRCm39)	H354Q	probably benign	Het
Gm15056	T	C	8: 21,390,758 (GRCm39)	T60A	probably benign	Het
Hsd11b1	A	T	1: 192,924,553 (GRCm39)	N6K	probably benign	Het
Ighv1-36	T	C	12: 114,843,742 (GRCm39)	I39M	probably benign	Het
Igkv4-80	A	C	6: 68,993,649 (GRCm39)	S81A	probably benign	Het
Kdm7a	G	A	6: 39,128,386 (GRCm39)	P482S	possibly damaging	Het
Lama5	C	A	2: 179,840,579 (GRCm39)	E607*	probably null	Het
Lao1	T	A	4: 118,824,673 (GRCm39)	S252T	probably benign	Het
Lrp12	A	G	15: 39,741,650 (GRCm39)	F355S	probably damaging	Het
Mlycd	T	C	8: 120,137,043 (GRCm39)	F421S	probably damaging	Het
Nectin3	T	C	16: 46,268,812 (GRCm39)	E530G	probably benign	Het
Nifk	T	C	1: 118,260,669 (GRCm39)	*270R	probably null	Het
Ocln	T	C	13: 100,676,106 (GRCm39)	Y129C	probably damaging	Het
Or10ag60	C	T	2: 87,438,176 (GRCm39)	T148I	probably benign	Het
Or4f54	T	A	2: 111,122,832 (GRCm39)	L73H	probably damaging	Het
Or52l1	T	A	7: 104,829,864 (GRCm39)	I219F	possibly damaging	Het
Or5b117	A	T	19: 13,431,349 (GRCm39)	C177*	probably null	Het
Otx1	C	A	11: 21,947,037 (GRCm39)	A91S	probably damaging	Het
Pcdhb22	G	T	18: 37,652,179 (GRCm39)	G216C	probably damaging	Het
Ppcs	T	C	4: 119,276,412 (GRCm39)	K58E	probably damaging	Het
Prss38	T	C	11: 59,265,196 (GRCm39)	T123A	probably damaging	Het
Rap1gap	T	A	4: 137,447,744 (GRCm39)		probably null	Het
Rbm18	A	G	2: 36,017,217 (GRCm39)	F54L	possibly damaging	Het
Rwdd3	G	A	3: 120,953,432 (GRCm39)		probably benign	Het
Ryr2	T	C	13: 11,650,422 (GRCm39)	K138E	possibly damaging	Het
Sec24a	T	C	11: 51,604,359 (GRCm39)		probably null	Het
Serpinb10	A	G	1: 107,468,701 (GRCm39)	T115A	probably benign	Het
Slco1a8	T	A	6: 141,954,414 (GRCm39)	M20L	probably benign	Het
Slx4ip	T	G	2: 136,885,930 (GRCm39)	F83L	probably damaging	Het
St3gal1	A	T	15: 66,980,078 (GRCm39)	S274T	probably benign	Het
Stab1	A	C	14: 30,885,056 (GRCm39)	C121W	probably damaging	Het
Stab2	A	G	10: 86,743,249 (GRCm39)	L1149P	probably damaging	Het
Svil	T	G	18: 5,048,954 (GRCm39)	I77R	probably benign	Het
Tbk1	T	G	10: 121,412,241 (GRCm39)	E47A	possibly damaging	Het
Tert	C	T	13: 73,782,397 (GRCm39)	T557I	probably damaging	Het
Tfap2c	A	G	2: 172,393,947 (GRCm39)	D252G	probably damaging	Het
Tll1	C	A	8: 64,506,983 (GRCm39)	C586F	probably damaging	Het
Tln2	T	G	9: 67,261,750 (GRCm39)	N663T	probably benign	Het
Tmem245	T	A	4: 56,946,945 (GRCm39)	Y156F	possibly damaging	Het
Unc79	T	A	12: 103,134,700 (GRCm39)	M2417K	possibly damaging	Het
Ush2a	T	C	1: 188,689,471 (GRCm39)	V5011A	probably benign	Het
Virma	T	C	4: 11,494,840 (GRCm39)	V47A	possibly damaging	Het
Vmn2r53	A	C	7: 12,315,741 (GRCm39)	S693A	probably benign	Het
Vps54	G	A	11: 21,269,881 (GRCm39)		probably benign	Het
Znfx1	T	C	2: 166,907,318 (GRCm39)		probably benign	Het

Other mutations in Uhrf1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00560:Uhrf1	APN	17	56,625,125 (GRCm39)	missense	probably damaging	1.00
IGL00925:Uhrf1	APN	17	56,627,535 (GRCm39)	missense	probably benign	0.00
IGL01432:Uhrf1	APN	17	56,625,250 (GRCm39)	missense	probably damaging	1.00
IGL02739:Uhrf1	APN	17	56,612,129 (GRCm39)	missense	probably benign	0.03
R0667:Uhrf1	UTSW	17	56,617,677 (GRCm39)	missense	probably benign	0.01
R0685:Uhrf1	UTSW	17	56,617,742 (GRCm39)	missense	probably damaging	0.99
R1121:Uhrf1	UTSW	17	56,619,917 (GRCm39)	missense	probably benign
R1462:Uhrf1	UTSW	17	56,625,035 (GRCm39)	missense	probably damaging	1.00
R1462:Uhrf1	UTSW	17	56,625,035 (GRCm39)	missense	probably damaging	1.00
R2088:Uhrf1	UTSW	17	56,625,089 (GRCm39)	missense	probably damaging	1.00
R2329:Uhrf1	UTSW	17	56,617,671 (GRCm39)	splice site	probably null
R2331:Uhrf1	UTSW	17	56,617,671 (GRCm39)	splice site	probably null
R2332:Uhrf1	UTSW	17	56,617,671 (GRCm39)	splice site	probably null
R3624:Uhrf1	UTSW	17	56,624,023 (GRCm39)	missense	probably damaging	1.00
R4065:Uhrf1	UTSW	17	56,625,020 (GRCm39)	missense	probably damaging	1.00
R4882:Uhrf1	UTSW	17	56,616,401 (GRCm39)	missense	probably damaging	1.00
R4901:Uhrf1	UTSW	17	56,617,834 (GRCm39)	missense	probably benign	0.01
R4913:Uhrf1	UTSW	17	56,622,478 (GRCm39)	missense	probably damaging	0.99
R5186:Uhrf1	UTSW	17	56,625,340 (GRCm39)	missense	probably damaging	1.00
R5711:Uhrf1	UTSW	17	56,627,259 (GRCm39)	missense	possibly damaging	0.49
R6917:Uhrf1	UTSW	17	56,616,574 (GRCm39)	missense	probably damaging	1.00
R7021:Uhrf1	UTSW	17	56,627,450 (GRCm39)	missense	probably benign	0.04
R7241:Uhrf1	UTSW	17	56,622,193 (GRCm39)	missense	probably damaging	1.00
R7692:Uhrf1	UTSW	17	56,619,905 (GRCm39)	missense	possibly damaging	0.91
R7875:Uhrf1	UTSW	17	56,619,884 (GRCm39)	missense	possibly damaging	0.46
R8540:Uhrf1	UTSW	17	56,612,105 (GRCm39)	missense	probably damaging	1.00
R8731:Uhrf1	UTSW	17	56,629,363 (GRCm39)	missense	probably damaging	1.00
R8897:Uhrf1	UTSW	17	56,617,817 (GRCm39)	missense	probably damaging	1.00
R9349:Uhrf1	UTSW	17	56,617,737 (GRCm39)	missense	possibly damaging	0.95
R9681:Uhrf1	UTSW	17	56,625,083 (GRCm39)	missense	possibly damaging	0.51
R9708:Uhrf1	UTSW	17	56,629,357 (GRCm39)	missense	probably benign	0.01
R9723:Uhrf1	UTSW	17	56,625,061 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GTACATCCCCATGTCTGACG -3'
(R):5'- AAAGCTACAGGGTCCCACTC -3'

Sequencing Primer
(F):5'- ATGTCTGACGTGCTCCCCAG -3'
(R):5'- TCCTTGGAGTCAGAGCCACTG -3'

Posted On

2016-06-06