Mutagenetix > Incidental Mutation

Incidental Mutation 'R4913:Uhrf1'

379756

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

042515-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R4913 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

56610405-56630486 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 56622478 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 431 (V431A)

Ref Sequence

ENSEMBL: ENSMUSP00000108662 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000001258] [ENSMUST00000113035] [ENSMUST00000113038] [ENSMUST00000113039] [ENSMUST00000142387]

AlphaFold

Q8VDF2

Predicted Effect

probably damaging
Transcript: ENSMUST00000001258
AA Change: V431A

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000001258
Gene: ENSMUSG00000001228
AA Change: V431A

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: V423A

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000108658
Gene: ENSMUSG00000001228
AA Change: V423A

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: V423A

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000108661
Gene: ENSMUSG00000001228
AA Change: V423A

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: V431A

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000108662
Gene: ENSMUSG00000001228
AA Change: V431A

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

Predicted Effect

probably benign
Transcript: ENSMUST00000142387

SMART Domains

Protein: ENSMUSP00000125830
Gene: ENSMUSG00000001228

Domain	Start	End	E-Value	Type
UBQ	1	74	9.37e-10	SMART

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 96.0%
20x: 91.3%

Validation Efficiency

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: 85 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aadacl4fm1	T	A	4: 144,255,381 (GRCm39)	M267K	possibly damaging	Het
Acsm5	T	C	7: 119,133,566 (GRCm39)	S244P	probably damaging	Het
Actr6	A	G	10: 89,550,808 (GRCm39)	F329L	probably benign	Het
Actrt3	A	G	3: 30,652,588 (GRCm39)	S169P	probably benign	Het
Agtpbp1	C	A	13: 59,647,886 (GRCm39)	G645C	probably damaging	Het
AI661453	C	T	17: 47,779,480 (GRCm39)	R1069*	probably null	Het
Akr1c6	T	C	13: 4,504,524 (GRCm39)	I303T	probably benign	Het
Arnt	A	G	3: 95,397,965 (GRCm39)	R588G	probably damaging	Het
Atf1	A	G	15: 100,149,979 (GRCm39)		probably null	Het
Casp12	T	C	9: 5,358,726 (GRCm39)	V318A	probably damaging	Het
Cblb	C	T	16: 51,986,392 (GRCm39)	P545L	possibly damaging	Het
Cc2d2a	A	T	5: 43,896,665 (GRCm39)	I1521F	probably benign	Het
Ccn2	T	C	10: 24,473,225 (GRCm39)	C255R	probably damaging	Het
Ccnb1ip1	T	A	14: 51,029,601 (GRCm39)	K154*	probably null	Het
Cd300a	A	T	11: 114,784,198 (GRCm39)	K69*	probably null	Het
Cdin1	A	G	2: 115,500,568 (GRCm39)		probably null	Het
Clec10a	A	G	11: 70,060,851 (GRCm39)	Y78C	probably damaging	Het
Cnot1	T	C	8: 96,489,695 (GRCm39)	I503V	possibly damaging	Het
Cpa2	A	G	6: 30,554,292 (GRCm39)	H304R	probably damaging	Het
Crb2	A	T	2: 37,680,257 (GRCm39)	H395L	probably benign	Het
Dnah8	T	A	17: 31,038,113 (GRCm39)	N4257K	probably damaging	Het
Dnase2a	G	A	8: 85,635,477 (GRCm39)	D25N	probably damaging	Het
Drd1	T	C	13: 54,207,186 (GRCm39)	T343A	probably benign	Het
Emid1	G	A	11: 5,082,012 (GRCm39)	T161I	probably benign	Het
Epn2	A	G	11: 61,425,402 (GRCm39)		probably null	Het
Esp36	A	T	17: 38,728,055 (GRCm39)	N75K	possibly damaging	Het
Faf1	A	G	4: 109,792,746 (GRCm39)	S573G	possibly damaging	Het
Fam149a	T	G	8: 45,806,920 (GRCm39)	S231R	probably damaging	Het
Fam78a	T	C	2: 31,959,774 (GRCm39)	E112G	probably damaging	Het
Fgf18	T	C	11: 33,084,316 (GRCm39)	D46G	probably benign	Het
Fggy	G	A	4: 95,585,313 (GRCm39)		probably null	Het
Foxb1	T	C	9: 69,666,859 (GRCm39)	M224V	probably benign	Het
Gpr75	T	C	11: 30,841,808 (GRCm39)	C238R	possibly damaging	Het
Gsdmc3	A	G	15: 63,730,122 (GRCm39)	*481R	probably null	Het
H2az2	C	A	11: 6,383,750 (GRCm39)	A57S	probably damaging	Het
Hsd17b11	T	C	5: 104,140,748 (GRCm39)	I250V	probably benign	Het
Hus1	C	A	11: 8,946,856 (GRCm39)	L280F	probably benign	Het
Ide	A	T	19: 37,306,469 (GRCm39)	H101Q	unknown	Het
Ido1	T	C	8: 25,074,533 (GRCm39)	D279G	probably benign	Het
Inpp5b	T	C	4: 124,674,214 (GRCm39)	V307A	probably benign	Het
Ipo5	G	A	14: 121,172,498 (GRCm39)	V519I	probably damaging	Het
Krba1	T	C	6: 48,383,891 (GRCm39)	V239A	probably benign	Het
Lmod3	A	G	6: 97,224,125 (GRCm39)		probably null	Het
Macf1	T	C	4: 123,393,682 (GRCm39)	D836G	probably damaging	Het
Malt1	G	T	18: 65,609,351 (GRCm39)	C774F	probably damaging	Het
Map2k4	C	A	11: 65,600,758 (GRCm39)	D58Y	probably damaging	Het
Mc2r	T	C	18: 68,540,411 (GRCm39)	N294S	probably benign	Het
Mybpc1	A	G	10: 88,389,116 (GRCm39)		probably null	Het
Mybpc3	A	G	2: 90,956,609 (GRCm39)	E637G	possibly damaging	Het
Narf	A	G	11: 121,135,469 (GRCm39)	Q107R	probably damaging	Het
Nlrp3	G	A	11: 59,440,064 (GRCm39)	G547D	probably benign	Het
Nucb2	G	T	7: 116,123,540 (GRCm39)	G51*	probably null	Het
Or10al5	T	A	17: 38,063,315 (GRCm39)	V190D	possibly damaging	Het
Otog	C	A	7: 45,913,526 (GRCm39)	D786E	probably benign	Het
Otogl	T	C	10: 107,712,716 (GRCm39)	T543A	probably damaging	Het
Pgap6	T	C	17: 26,339,513 (GRCm39)	F584L	probably damaging	Het
Phf20l1	A	G	15: 66,476,704 (GRCm39)	N266S	probably benign	Het
Pink1	G	T	4: 138,042,866 (GRCm39)	S446*	probably null	Het
Pkp4	T	G	2: 59,135,794 (GRCm39)	H186Q	probably damaging	Het
Prl3b1	T	C	13: 27,433,460 (GRCm39)	V205A	probably damaging	Het
Prss32	T	C	17: 24,078,157 (GRCm39)	V281A	probably damaging	Het
Psd3	C	T	8: 68,573,821 (GRCm39)	C120Y	probably damaging	Het
Ptcra	A	G	17: 47,069,574 (GRCm39)	L99P	probably damaging	Het
Rab3gap2	C	T	1: 184,995,026 (GRCm39)	T855I	probably benign	Het
Rabgap1l	T	C	1: 160,066,111 (GRCm39)	E199G	probably damaging	Het
Rbm44	T	A	1: 91,083,216 (GRCm39)	C580S	probably damaging	Het
Resf1	C	G	6: 149,230,887 (GRCm39)	S1311C	probably damaging	Het
Rhoq	T	C	17: 87,302,493 (GRCm39)	V143A	probably benign	Het
Sacs	T	A	14: 61,451,246 (GRCm39)	Y4431N	probably benign	Het
Sec24b	A	T	3: 129,796,028 (GRCm39)	S367T	probably benign	Het
Sema4c	G	A	1: 36,589,266 (GRCm39)	S620F	probably benign	Het
Slc12a1	G	A	2: 125,070,670 (GRCm39)	G1054E	probably damaging	Het
Slc16a3	A	G	11: 120,848,794 (GRCm39)	R417G	probably benign	Het
Slc22a29	A	T	19: 8,195,722 (GRCm39)	S106T	probably benign	Het
Slc41a2	T	C	10: 83,149,284 (GRCm39)	T220A	probably damaging	Het
Tap1	T	C	17: 34,412,468 (GRCm39)	F474L	possibly damaging	Het
Tas2r106	G	T	6: 131,655,422 (GRCm39)	A143D	probably benign	Het
Tbx6	A	T	7: 126,383,707 (GRCm39)		probably null	Het
Tfap2a	T	A	13: 40,870,706 (GRCm39)	N402I	probably damaging	Het
Tle3	T	A	9: 61,281,275 (GRCm39)	V22E	probably damaging	Het
Trip4	T	C	9: 65,765,639 (GRCm39)	I353M	probably damaging	Het
Ubr2	C	A	17: 47,270,385 (GRCm39)		probably null	Het
Ugdh	A	G	5: 65,580,791 (GRCm39)		probably null	Het
Usp5	C	G	6: 124,799,593 (GRCm39)	K318N	possibly damaging	Het
Zfp820	T	C	17: 22,038,200 (GRCm39)	K376R	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
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'- TCAAGTGAGGTGGTACAAGC -3'
(R):5'- TGTGACAAGGGTCTAGGGTC -3'

Sequencing Primer
(F):5'- GCATCAGCCACTTCCTCC -3'
(R):5'- TCTAGGGTCATGCACCTAAGC -3'

Posted On

2016-04-15