Mutagenetix > Incidental Mutation

Incidental Mutation 'R7021:Uhrf1'

545657

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

045122-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7021 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

56610405-56630486 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 56627450 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 661 (T661A)

Ref Sequence

ENSEMBL: ENSMUSP00000108661 (fasta)

Gene Model

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

AlphaFold

Q8VDF2

Predicted Effect

probably benign
Transcript: ENSMUST00000001258
AA Change: T669A

PolyPhen 2 Score 0.021 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000001258
Gene: ENSMUSG00000001228
AA Change: T669A

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 benign
Transcript: ENSMUST00000113035
AA Change: T661A

PolyPhen 2 Score 0.036 (Sensitivity: 0.94; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000108658
Gene: ENSMUSG00000001228
AA Change: T661A

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 benign
Transcript: ENSMUST00000113038
AA Change: T661A

PolyPhen 2 Score 0.036 (Sensitivity: 0.94; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000108661
Gene: ENSMUSG00000001228
AA Change: T661A

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 benign
Transcript: ENSMUST00000113039
AA Change: T669A

PolyPhen 2 Score 0.021 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000108662
Gene: ENSMUSG00000001228
AA Change: T669A

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.2%

Validation Efficiency

99% (75/76)

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: 75 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
AAdacl4fm3	A	C	4: 144,442,062 (GRCm39)	L63R	probably damaging	Het
Abcb5	C	T	12: 118,895,660 (GRCm39)	V379I	probably benign	Het
Adamts15	T	C	9: 30,832,776 (GRCm39)	Y253C	probably damaging	Het
Ahsa1	T	C	12: 87,318,154 (GRCm39)	S37P	possibly damaging	Het
Arnt2	A	T	7: 83,993,150 (GRCm39)	L130H	probably damaging	Het
Atp8b5	T	A	4: 43,355,618 (GRCm39)	F533I	probably damaging	Het
Best1	A	G	19: 9,964,143 (GRCm39)	V439A	probably benign	Het
Bicc1	A	G	10: 70,796,978 (GRCm39)	V127A	probably damaging	Het
Brd7	T	C	8: 89,073,632 (GRCm39)	T253A	probably benign	Het
Btd	A	G	14: 31,389,788 (GRCm39)	D503G	probably benign	Het
Ccdc80	A	G	16: 44,924,804 (GRCm39)	E646G	probably damaging	Het
Ccl25	A	G	8: 4,399,641 (GRCm39)		probably benign	Het
Ccnf	C	A	17: 24,461,205 (GRCm39)	W150L	probably damaging	Het
Cdk11b	A	T	4: 155,726,024 (GRCm39)		probably benign	Het
Cfap73	T	C	5: 120,768,149 (GRCm39)	E203G	probably benign	Het
Cmya5	T	C	13: 93,230,063 (GRCm39)	E1675G	possibly damaging	Het
Copg1	T	A	6: 87,871,087 (GRCm39)	Y268N	possibly damaging	Het
Csnk2a1	T	A	2: 152,102,732 (GRCm39)	H126Q	probably damaging	Het
Ctbs	G	A	3: 146,160,703 (GRCm39)	G90D	probably damaging	Het
Ctnna2	T	C	6: 77,613,888 (GRCm39)	Y221C	probably damaging	Het
Cypt12	C	T	3: 18,002,635 (GRCm39)	R3C	unknown	Het
D630003M21Rik	A	T	2: 158,058,670 (GRCm39)	M410K	possibly damaging	Het
Dnah9	A	T	11: 65,872,057 (GRCm39)	N2724K	probably benign	Het
Dok3	T	C	13: 55,672,097 (GRCm39)	T194A	probably benign	Het
Edem3	T	G	1: 151,631,423 (GRCm39)	S36A	probably benign	Het
Eed	C	T	7: 89,629,727 (GRCm39)	E3K	possibly damaging	Het
Efcab2	A	G	1: 178,308,925 (GRCm39)	I143V	probably benign	Het
Ensa	A	T	3: 95,534,359 (GRCm39)		probably null	Het
Galnt16	A	T	12: 80,626,826 (GRCm39)	E219V	probably damaging	Het
Gfra3	C	A	18: 34,823,933 (GRCm39)	R347L	probably benign	Het
Gm2042	T	A	12: 87,927,009 (GRCm39)	I442K	probably damaging	Het
Gpld1	A	T	13: 25,168,691 (GRCm39)	D735V	probably damaging	Het
Hspg2	T	C	4: 137,269,580 (GRCm39)	S2253P	possibly damaging	Het
Kit	T	C	5: 75,781,627 (GRCm39)	I352T	probably benign	Het
Klra6	A	T	6: 129,995,821 (GRCm39)	V179E	possibly damaging	Het
Lctl	T	A	9: 64,040,075 (GRCm39)		probably null	Het
Lman1	C	A	18: 66,124,714 (GRCm39)	V342L	probably benign	Het
Lrrn2	T	C	1: 132,866,522 (GRCm39)	L529P	probably damaging	Het
Mab21l2	A	G	3: 86,454,793 (GRCm39)	I69T	probably benign	Het
Mapkapk5	G	T	5: 121,665,274 (GRCm39)	A327E	probably benign	Het
Mex3b	G	T	7: 82,519,080 (GRCm39)	R465L	possibly damaging	Het
Mgat3	A	G	15: 80,096,655 (GRCm39)	N494S	probably damaging	Het
Mgat4c	A	G	10: 102,224,289 (GRCm39)	R168G	possibly damaging	Het
Mkks	A	G	2: 136,718,007 (GRCm39)		probably null	Het
Muc16	G	T	9: 18,466,215 (GRCm39)	H7368N	unknown	Het
Muc16	T	C	9: 18,462,127 (GRCm39)		probably null	Het
Nbeal1	G	A	1: 60,300,745 (GRCm39)		probably null	Het
Notch2	T	C	3: 98,042,762 (GRCm39)	S1376P	probably benign	Het
Obox5	A	G	7: 15,491,681 (GRCm39)		probably null	Het
Or10j5	T	C	1: 172,784,494 (GRCm39)	I44T	probably benign	Het
Or6c8b	A	T	10: 128,882,899 (GRCm39)	I11N	probably damaging	Het
Pbrm1	A	G	14: 30,789,773 (GRCm39)	I807V	probably damaging	Het
Pitrm1	T	A	13: 6,628,593 (GRCm39)	V962E	probably damaging	Het
Pkd2l1	T	C	19: 44,142,647 (GRCm39)	Q465R	probably damaging	Het
Pla1a	A	G	16: 38,221,244 (GRCm39)	I372T	probably damaging	Het
Prmt5	A	C	14: 54,752,845 (GRCm39)	F122C	probably damaging	Het
Prrc2b	T	A	2: 32,111,498 (GRCm39)	S1905T	probably damaging	Het
Ptprf	T	G	4: 118,081,101 (GRCm39)	K1163N	probably benign	Het
Rab3ip	A	G	10: 116,775,283 (GRCm39)	V25A	probably damaging	Het
Raf1	T	C	6: 115,597,300 (GRCm39)		probably null	Het
Rnf180	T	C	13: 105,407,429 (GRCm39)	E40G	probably benign	Het
Rpl6	T	A	5: 121,346,972 (GRCm39)	M289K	probably benign	Het
Slc25a32	A	G	15: 38,963,321 (GRCm39)	F167L	probably benign	Het
Slc30a2	G	A	4: 134,074,726 (GRCm39)	R161Q	probably damaging	Het
Slc4a4	T	A	5: 89,188,205 (GRCm39)		probably null	Het
Sppl2a	A	G	2: 126,769,663 (GRCm39)		probably null	Het
Tbr1	T	A	2: 61,637,688 (GRCm39)	D82E	probably benign	Het
Tbx10	A	T	19: 4,048,961 (GRCm39)	T291S	probably benign	Het
Tlr1	T	A	5: 65,083,056 (GRCm39)	H507L	possibly damaging	Het
Trim37	A	C	11: 87,058,335 (GRCm39)	T338P	probably benign	Het
Trpv5	T	C	6: 41,630,204 (GRCm39)	T629A	probably benign	Het
Ttc14	T	A	3: 33,857,646 (GRCm39)	I249N	probably damaging	Het
Vmn2r65	A	G	7: 84,596,587 (GRCm39)	I156T	probably benign	Het
Vwde	T	C	6: 13,186,905 (GRCm39)	N861D	probably damaging	Het
Zan	A	G	5: 137,422,213 (GRCm39)	C2802R	unknown	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
R5061:Uhrf1	UTSW	17	56,627,542 (GRCm39)	splice site	probably null
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
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'- GACCCTCATCTTCCAAGACAGG -3'
(R):5'- TGTACAGAGACATTGGAGTGCTG -3'

Sequencing Primer
(F):5'- TCATCTTCCAAGACAGGCAAAAG -3'
(R):5'- ACATTGGAGTGCTGCAGTAG -3'

Posted On

2019-05-13