Incidental Mutation 'R9681:Uhrf1'
ID 728590
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
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R9681 (G1)
Quality Score 225.009
Status Not validated
Chromosome 17
Chromosomal Location 56610405-56630486 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 56625083 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Serine at position 542 (N542S)
Ref Sequence ENSEMBL: ENSMUSP00000001258 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000001258] [ENSMUST00000113035] [ENSMUST00000113038] [ENSMUST00000113039]
AlphaFold Q8VDF2
PDB Structure Crystal structure of the SRA domain of mouse Np95 in complex with hemi-methylated CpG DNA [X-RAY DIFFRACTION]
Crystal structure of the SRA domain of mouse Np95 in complex with hemi-methylated CpG DNA [X-RAY DIFFRACTION]
Crystal structure of the SRA domain of mouse Np95 in complex with hemi-methylated CpG DNA [X-RAY DIFFRACTION]
Crystal structure of unliganded SRA domain of mouse Np95 [X-RAY DIFFRACTION]
mouse NP95 SRA domain DNA specific complex 1 [X-RAY DIFFRACTION]
Mouse NP95 SRA domain DNA specific complex 2 [X-RAY DIFFRACTION]
Mouse NP95 SRA domain non-specific DNA complex [X-RAY DIFFRACTION]
Mouse UHRF1 SRA domain bound with hemi-methylated CpG, crystal structure in space group P21 [X-RAY DIFFRACTION]
Mouse UHRF1 SRA domain bound with hemi-methylated CpG, crystal structure in space group C222(1) [X-RAY DIFFRACTION]
Mouse UHRF1 SRA domain bound with hemi-methylated CpG DNA, crystal structure in space group C222(1) at 1.4 A resolution [X-RAY DIFFRACTION]
Predicted Effect possibly damaging
Transcript: ENSMUST00000001258
AA Change: N542S

PolyPhen 2 Score 0.513 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000001258
Gene: ENSMUSG00000001228
AA Change: N542S

DomainStartEndE-ValueType
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 possibly damaging
Transcript: ENSMUST00000113035
AA Change: N534S

PolyPhen 2 Score 0.457 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000108658
Gene: ENSMUSG00000001228
AA Change: N534S

DomainStartEndE-ValueType
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 possibly damaging
Transcript: ENSMUST00000113038
AA Change: N534S

PolyPhen 2 Score 0.457 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000108661
Gene: ENSMUSG00000001228
AA Change: N534S

DomainStartEndE-ValueType
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 possibly damaging
Transcript: ENSMUST00000113039
AA Change: N542S

PolyPhen 2 Score 0.513 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000108662
Gene: ENSMUSG00000001228
AA Change: N542S

DomainStartEndE-ValueType
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: 99.9%
  • 10x: 99.7%
  • 20x: 99.1%
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: 70 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
0610030E20Rik A G 6: 72,324,450 (GRCm39) D20G probably damaging Het
Acbd3 T A 1: 180,566,082 (GRCm39) Y258* probably null Het
Adamts1 T A 16: 85,599,498 (GRCm39) H34L Het
Ankmy1 G T 1: 92,813,882 (GRCm39) N432K possibly damaging Het
Ano1 A G 7: 144,143,893 (GRCm39) M966T possibly damaging Het
Ark2n A T 18: 77,722,989 (GRCm39) V349D possibly damaging Het
C2cd3 A G 7: 100,023,662 (GRCm39) T83A probably benign Het
Cdk1 T A 10: 69,178,449 (GRCm39) D137V possibly damaging Het
Cfap299 T A 5: 98,477,214 (GRCm39) M1K probably null Het
Chia1 A G 3: 106,037,996 (GRCm39) Y326C probably damaging Het
Ciz1 A G 2: 32,260,974 (GRCm39) D295G possibly damaging Het
Clrn1 C T 3: 58,792,251 (GRCm39) V71I probably benign Het
Cr1l T C 1: 194,800,149 (GRCm39) D175G probably damaging Het
Crem A T 18: 3,268,067 (GRCm39) V87E probably damaging Het
Cyp2b19 T A 7: 26,466,328 (GRCm39) L377Q probably benign Het
Ddx42 T A 11: 106,125,679 (GRCm39) V243D probably damaging Het
Dnah14 T C 1: 181,562,414 (GRCm39) V2658A possibly damaging Het
Dnah3 T G 7: 119,677,611 (GRCm39) M437L probably benign Het
Flrt2 T A 12: 95,745,425 (GRCm39) probably benign Het
Gm10142 T A 10: 77,551,880 (GRCm39) C80* probably null Het
Gpr158 A G 2: 21,831,315 (GRCm39) E805G probably damaging Het
Grwd1 T C 7: 45,479,473 (GRCm39) E134G probably benign Het
Hdac11 T A 6: 91,150,068 (GRCm39) V289D probably benign Het
Hsdl1 T C 8: 120,293,081 (GRCm39) E118G possibly damaging Het
Igdcc4 T A 9: 65,041,858 (GRCm39) L1095Q possibly damaging Het
Ildr1 T A 16: 36,528,749 (GRCm39) C65S probably damaging Het
Itgal T C 7: 126,929,422 (GRCm39) F1113S probably damaging Het
Itsn2 G T 12: 4,683,499 (GRCm39) V341F unknown Het
Jak1 G A 4: 101,019,085 (GRCm39) R723C probably damaging Het
Limch1 A G 5: 67,126,422 (GRCm39) T8A probably damaging Het
Limd1 T A 9: 123,345,903 (GRCm39) C561S possibly damaging Het
Map3k19 A G 1: 127,750,097 (GRCm39) F1085L possibly damaging Het
Mcm7 A T 5: 138,164,220 (GRCm39) Y600* probably null Het
Mecom A T 3: 30,033,803 (GRCm39) D300E probably benign Het
Mfap4 T A 11: 61,376,925 (GRCm39) Y51* probably null Het
Mug1 T A 6: 121,833,254 (GRCm39) N286K probably benign Het
Myl2 A T 5: 122,240,783 (GRCm39) R40* probably null Het
Nom1 A G 5: 29,642,623 (GRCm39) S375G probably damaging Het
Nrcam C A 12: 44,598,133 (GRCm39) P368Q probably null Het
Oca2 G C 7: 55,943,623 (GRCm39) Q265H probably null Het
Or52a20 T A 7: 103,366,475 (GRCm39) F225I probably damaging Het
Or52n2c T C 7: 104,574,075 (GRCm39) T299A probably damaging Het
Or5k8 T A 16: 58,644,176 (GRCm39) N299Y possibly damaging Het
Or6c88 A T 10: 129,406,664 (GRCm39) T47S probably damaging Het
Or7a41 G A 10: 78,871,577 (GRCm39) D316N probably benign Het
Palmd T C 3: 116,717,120 (GRCm39) E459G probably benign Het
Pde1a G T 2: 79,695,465 (GRCm39) A494D probably benign Het
Pds5a T C 5: 65,808,587 (GRCm39) Y428C probably damaging Het
Pgm2 T C 5: 64,254,391 (GRCm39) F59L probably benign Het
Plekhm1 A G 11: 103,258,950 (GRCm39) V980A possibly damaging Het
Polb T C 8: 23,118,346 (GRCm39) D318G possibly damaging Het
Rasgef1c T A 11: 49,861,040 (GRCm39) M335K probably damaging Het
Rasgrp4 T C 7: 28,849,687 (GRCm39) S651P probably benign Het
Robo3 A C 9: 37,334,558 (GRCm39) I624S possibly damaging Het
Robo3 T A 9: 37,339,087 (GRCm39) H290L probably benign Het
Rps6kl1 T C 12: 85,183,599 (GRCm39) H482R probably damaging Het
Slc26a9 A T 1: 131,681,691 (GRCm39) E168V probably benign Het
Slc3a2 T C 19: 8,691,226 (GRCm39) probably benign Het
Slc4a4 A T 5: 89,102,723 (GRCm39) K54* probably null Het
Slitrk6 A G 14: 110,988,258 (GRCm39) L483P probably damaging Het
Svep1 T A 4: 58,084,959 (GRCm39) N1793I probably damaging Het
Ttn T C 2: 76,612,723 (GRCm39) I17119V possibly damaging Het
Tulp4 T C 17: 6,274,500 (GRCm39) L617P possibly damaging Het
Vmn1r151 T A 7: 22,198,368 (GRCm39) T246S probably damaging Het
Vmn1r57 T A 7: 5,224,069 (GRCm39) V198E probably damaging Het
Vmn2r99 A T 17: 19,598,889 (GRCm39) Q191L probably damaging Het
Vrk3 C T 7: 44,403,356 (GRCm39) T39M possibly damaging Het
Zc3h3 C A 15: 75,681,470 (GRCm39) R537L probably damaging Het
Zfp64 A T 2: 168,793,680 (GRCm39) V22E probably damaging Het
Zwint T C 10: 72,493,112 (GRCm39) L218P probably damaging Het
Other mutations in Uhrf1
AlleleSourceChrCoordTypePredicted EffectPPH 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
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
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'- CTGGCCTATGCTAGGGATCTTG -3'
(R):5'- GGAAGCCAGATTTCCCTCTC -3'

Sequencing Primer
(F):5'- GTTTTGGTGTCCAGTTGATATCTCC -3'
(R):5'- TGGCCAGTACTTCACCACCTG -3'
Posted On 2022-10-06