Mutagenetix > Incidental Mutation

Incidental Mutation 'R2088:Uhrf1'

231622

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

040093-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R2088 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

56610405-56630486 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 56625089 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Methionine at position 544 (K544M)

Ref Sequence

ENSEMBL: ENSMUSP00000108662 (fasta)

Gene Model

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

AlphaFold

Q8VDF2

Predicted Effect

probably damaging
Transcript: ENSMUST00000001258
AA Change: K544M

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

SMART Domains

Protein: ENSMUSP00000001258
Gene: ENSMUSG00000001228
AA Change: K544M

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 damaging
Transcript: ENSMUST00000113035
AA Change: K536M

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

SMART Domains

Protein: ENSMUSP00000108658
Gene: ENSMUSG00000001228
AA Change: K536M

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 damaging
Transcript: ENSMUST00000113038
AA Change: K536M

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

SMART Domains

Protein: ENSMUSP00000108661
Gene: ENSMUSG00000001228
AA Change: K536M

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 damaging
Transcript: ENSMUST00000113039
AA Change: K544M

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

SMART Domains

Protein: ENSMUSP00000108662
Gene: ENSMUSG00000001228
AA Change: K544M

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: ENSMUST00000137876

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000139654

Meta Mutation Damage Score

0.3779

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.2%

Validation Efficiency

97% (66/68)

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: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ankk1	T	C	9: 49,333,265 (GRCm39)		probably benign	Het
Ano5	T	A	7: 51,237,454 (GRCm39)	N759K	possibly damaging	Het
Arhgef10	A	G	8: 15,033,898 (GRCm39)	T1072A	possibly damaging	Het
BC107364	T	C	3: 96,341,745 (GRCm39)	T93A	unknown	Het
Canx	C	T	11: 50,201,217 (GRCm39)	E97K	possibly damaging	Het
Casp8ap2	T	C	4: 32,631,126 (GRCm39)	L62P	probably damaging	Het
Cbfa2t3	C	T	8: 123,364,725 (GRCm39)		probably benign	Het
Cmklr2	A	T	1: 63,222,811 (GRCm39)		probably null	Het
Cmya5	A	T	13: 93,229,320 (GRCm39)	S1923T	probably damaging	Het
Cntnap1	T	A	11: 101,073,373 (GRCm39)	I618N	probably damaging	Het
Cox17	C	G	16: 38,167,542 (GRCm39)	P27R	probably damaging	Het
Ctnna3	A	G	10: 64,708,986 (GRCm39)	E675G	probably damaging	Het
Cul9	A	G	17: 46,837,575 (GRCm39)	L990P	probably damaging	Het
Dab1	C	T	4: 104,588,948 (GRCm39)	A524V	probably benign	Het
Eif2d	T	C	1: 131,092,464 (GRCm39)	V374A	probably damaging	Het
Fhdc1	T	C	3: 84,382,033 (GRCm39)		probably benign	Het
Fryl	T	A	5: 73,222,804 (GRCm39)	I1926F	probably benign	Het
Galnt4	A	G	10: 98,945,046 (GRCm39)	D257G	probably damaging	Het
Gatm	A	G	2: 122,428,629 (GRCm39)	V344A	probably benign	Het
Gli1	T	G	10: 127,167,369 (GRCm39)	Y628S	probably damaging	Het
Gsdmc3	A	C	15: 63,732,063 (GRCm39)		probably null	Het
Hap1	T	C	11: 100,246,828 (GRCm39)	T26A	probably benign	Het
Helz2	C	T	2: 180,876,895 (GRCm39)	G1200S	probably benign	Het
Insyn1	T	C	9: 58,406,288 (GRCm39)	F66S	probably damaging	Het
Iqgap2	C	T	13: 96,028,171 (GRCm39)		probably null	Het
Itga3	T	A	11: 94,943,320 (GRCm39)	I895F	probably benign	Het
Klhl33	A	T	14: 51,130,230 (GRCm39)	C421*	probably null	Het
Klra2	T	C	6: 131,219,789 (GRCm39)	T131A	probably damaging	Het
Krt14	T	C	11: 100,094,949 (GRCm39)	E426G	possibly damaging	Het
Limd2	A	G	11: 106,049,568 (GRCm39)	F107L	probably damaging	Het
Lipo4	A	T	19: 33,477,469 (GRCm39)	N318K	possibly damaging	Het
Mab21l2	T	G	3: 86,454,316 (GRCm39)	D228A	probably damaging	Het
Moxd2	G	A	6: 40,861,901 (GRCm39)	H224Y	probably damaging	Het
Mpp4	T	C	1: 59,162,624 (GRCm39)	Y521C	possibly damaging	Het
Msto1	C	T	3: 88,818,297 (GRCm39)	A317T	probably damaging	Het
Mtmr4	T	C	11: 87,501,793 (GRCm39)	S559P	probably damaging	Het
Muc4	T	A	16: 32,576,783 (GRCm39)	H2094Q	unknown	Het
Ndufa11	C	A	17: 57,024,922 (GRCm39)	T28K	probably damaging	Het
Or2b4	A	G	17: 38,116,686 (GRCm39)	T217A	probably benign	Het
Or4f4b	G	T	2: 111,314,623 (GRCm39)	A283S	probably damaging	Het
Orai2	C	A	5: 136,179,610 (GRCm39)	R155L	probably damaging	Het
Pde4c	A	G	8: 71,202,005 (GRCm39)	D582G	possibly damaging	Het
Pde4dip	T	C	3: 97,661,749 (GRCm39)	E609G	probably null	Het
Prune2	A	G	19: 17,097,109 (GRCm39)	D871G	possibly damaging	Het
Rbpms2	T	A	9: 65,538,121 (GRCm39)	L4Q	probably damaging	Het
Rhbg	T	C	3: 88,154,765 (GRCm39)	Y213C	probably damaging	Het
Rplp0	T	A	5: 115,700,562 (GRCm39)	N243K	possibly damaging	Het
Rtp4	A	T	16: 23,431,963 (GRCm39)	H165L	possibly damaging	Het
Ryr2	C	A	13: 11,677,115 (GRCm39)	M3245I	probably benign	Het
Sh2b2	T	A	5: 136,260,968 (GRCm39)	M83L	possibly damaging	Het
Simc1	T	C	13: 54,689,347 (GRCm39)	I284T	probably damaging	Het
Skp2	C	A	15: 9,113,786 (GRCm39)	G376C	probably damaging	Het
Slc46a1	T	C	11: 78,359,471 (GRCm39)	S368P	possibly damaging	Het
St6galnac1	A	G	11: 116,659,933 (GRCm39)	S127P	probably benign	Het
Tatdn3	A	G	1: 190,785,073 (GRCm39)	I192T	possibly damaging	Het
Tmem25	C	A	9: 44,707,383 (GRCm39)	V239F	possibly damaging	Het
Tprkb	A	C	6: 85,909,922 (GRCm39)		probably benign	Het
Trappc10	A	G	10: 78,032,168 (GRCm39)	V1040A	probably benign	Het
Txnrd1	G	A	10: 82,719,744 (GRCm39)		probably benign	Het
Unc80	T	A	1: 66,629,386 (GRCm39)	H1294Q	possibly damaging	Het
Uspl1	T	A	5: 149,146,560 (GRCm39)	I437K	probably damaging	Het
Vmn1r232	A	T	17: 21,133,999 (GRCm39)	N200K	possibly damaging	Het
Vmn2r19	A	T	6: 123,312,795 (GRCm39)	I622F	probably damaging	Het
Znfx1	A	G	2: 166,897,730 (GRCm39)	F398S	probably damaging	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
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
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'- TGGTGTCCAGTTGATATCTCCATG -3'
(R):5'- TCTCGTCGAAGGAGATAACGC -3'

Sequencing Primer
(F):5'- TGATATCTCCATGAATCTATGTGCC -3'
(R):5'- GAGGAAGCCAGATTTCCCTCTC -3'

Posted On

2014-09-18