Incidental Mutation 'R1462:Uhrf1'
ID 186353
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 039516-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R1462 (G1)
Quality Score 225
Status Validated
Chromosome 17
Chromosomal Location 56610405-56630486 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 56625035 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Alanine to Valine at position 526 (A526V)
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: A526V

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000001258
Gene: ENSMUSG00000001228
AA Change: A526V

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 probably damaging
Transcript: ENSMUST00000113035
AA Change: A518V

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000108658
Gene: ENSMUSG00000001228
AA Change: A518V

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 probably damaging
Transcript: ENSMUST00000113038
AA Change: A518V

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000108661
Gene: ENSMUSG00000001228
AA Change: A518V

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 probably damaging
Transcript: ENSMUST00000113039
AA Change: A526V

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000108662
Gene: ENSMUSG00000001228
AA Change: A526V

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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000137876
Predicted Effect noncoding transcript
Transcript: ENSMUST00000139654
Meta Mutation Damage Score 0.1468 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.3%
  • 10x: 96.0%
  • 20x: 92.0%
Validation Efficiency 99% (83/84)
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: 83 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930433I11Rik C A 7: 40,642,370 (GRCm39) S104* probably null Het
A430093F15Rik A T 19: 10,762,845 (GRCm39) probably benign Het
Abca13 T A 11: 9,433,924 (GRCm39) probably benign Het
Abca9 T C 11: 110,051,342 (GRCm39) D118G probably benign Het
Adamts16 A G 13: 70,984,253 (GRCm39) F137L probably benign Het
Adamts3 T C 5: 90,009,208 (GRCm39) I152V probably benign Het
Adcy4 T A 14: 56,015,765 (GRCm39) E441D possibly damaging Het
Adgra1 T A 7: 139,455,745 (GRCm39) Y458N probably damaging Het
Atpaf1 C T 4: 115,642,150 (GRCm39) probably benign Het
Bhlhe22 C G 3: 18,109,946 (GRCm39) S332C probably damaging Het
Card19 T A 13: 49,358,760 (GRCm39) Q71L probably benign Het
Ccdc12 T C 9: 110,485,662 (GRCm39) L11P probably damaging Het
Cdadc1 A G 14: 59,813,307 (GRCm39) Y367H probably damaging Het
Cdc5l G T 17: 45,719,288 (GRCm39) Q542K possibly damaging Het
Ceacam23 T G 7: 17,649,516 (GRCm39) noncoding transcript Het
Cep170 T C 1: 176,584,211 (GRCm39) K723E possibly damaging Het
Cep70 A G 9: 99,145,773 (GRCm39) I147V probably benign Het
Cfap58 A T 19: 47,950,869 (GRCm39) H410L probably damaging Het
Chat T C 14: 32,142,735 (GRCm39) K418R probably damaging Het
Cic T G 7: 24,971,032 (GRCm39) D254E probably damaging Het
Ckap4 T C 10: 84,363,431 (GRCm39) E544G probably damaging Het
Crnkl1 C T 2: 145,763,739 (GRCm39) A500T probably damaging Het
Cyp2c38 T C 19: 39,380,632 (GRCm39) N418D probably damaging Het
Daam1 A T 12: 71,990,916 (GRCm39) I177L unknown Het
Dnah1 T C 14: 30,990,738 (GRCm39) probably benign Het
Ercc5 A G 1: 44,219,784 (GRCm39) T1019A probably damaging Het
F13b T A 1: 139,435,374 (GRCm39) V173E probably damaging Het
Fam135b A G 15: 71,493,845 (GRCm39) probably benign Het
Fam20a A C 11: 109,568,143 (GRCm39) F316V probably damaging Het
Flrt2 T C 12: 95,746,112 (GRCm39) V150A probably damaging Het
Fnta A C 8: 26,489,599 (GRCm39) probably null Het
Ghsr A G 3: 27,426,025 (GRCm39) D27G probably benign Het
Glis3 G T 19: 28,239,918 (GRCm39) probably benign Het
Gtpbp1 A G 15: 79,592,086 (GRCm39) N96D probably damaging Het
H1f7 A T 15: 98,154,454 (GRCm39) W232R unknown Het
Hycc1 A G 5: 24,190,730 (GRCm39) probably benign Het
Ibtk A T 9: 85,606,198 (GRCm39) I443N probably damaging Het
Ifi207 T C 1: 173,552,513 (GRCm39) H968R probably damaging Het
Ifit2 A G 19: 34,550,586 (GRCm39) D42G probably null Het
Il17rc A T 6: 113,455,950 (GRCm39) D265V probably damaging Het
Ints10 G A 8: 69,260,296 (GRCm39) probably benign Het
Itfg2 T C 6: 128,401,691 (GRCm39) D29G probably damaging Het
Itprid1 A G 6: 55,952,649 (GRCm39) H864R probably damaging Het
Kcng3 A T 17: 83,938,492 (GRCm39) C186S probably damaging Het
Lrrc1 A G 9: 77,349,547 (GRCm39) F295L probably benign Het
Mrps28 T A 3: 8,965,184 (GRCm39) H85L possibly damaging Het
Mtpn T A 6: 35,499,693 (GRCm39) K37M possibly damaging Het
Mug1 C T 6: 121,859,588 (GRCm39) H1196Y probably benign Het
Mup4 T C 4: 59,960,084 (GRCm39) H60R possibly damaging Het
Musk A G 4: 58,286,204 (GRCm39) probably benign Het
Mybl2 T C 2: 162,914,628 (GRCm39) S249P probably benign Het
Naip6 A G 13: 100,436,748 (GRCm39) Y592H possibly damaging Het
Nrp1 A G 8: 129,229,279 (GRCm39) N919S probably benign Het
Nudt9 C T 5: 104,212,904 (GRCm39) Q326* probably null Het
Or5w13 A T 2: 87,523,720 (GRCm39) C169S probably damaging Het
Or6c76b A G 10: 129,693,100 (GRCm39) T238A probably damaging Het
Or7g17 T A 9: 18,768,407 (GRCm39) M162K probably benign Het
Or9k7 T A 10: 130,046,592 (GRCm39) I136F probably benign Het
Pcsk4 T C 10: 80,161,815 (GRCm39) E142G probably damaging Het
Pde3a C A 6: 141,405,560 (GRCm39) P471T probably benign Het
Pign A T 1: 105,512,727 (GRCm39) V652E possibly damaging Het
Prkcb T A 7: 122,181,672 (GRCm39) M420K probably damaging Het
Prr14 T A 7: 127,073,160 (GRCm39) probably null Het
Rchy1 T A 5: 92,105,741 (GRCm39) Q69L probably damaging Het
Sccpdh A C 1: 179,509,125 (GRCm39) probably benign Het
Sec23ip T G 7: 128,367,862 (GRCm39) S625A probably benign Het
Smpdl3b A G 4: 132,473,925 (GRCm39) S47P probably damaging Het
Speer4a3 T A 5: 26,156,623 (GRCm39) I119F possibly damaging Het
Stil G A 4: 114,881,161 (GRCm39) M568I probably benign Het
Syt3 T A 7: 44,045,434 (GRCm39) V558E probably damaging Het
Sytl3 A G 17: 6,973,430 (GRCm39) probably benign Het
Szt2 A G 4: 118,231,164 (GRCm39) V2533A unknown Het
Tenm4 A G 7: 96,353,360 (GRCm39) Y384C probably damaging Het
Tfam T C 10: 71,071,380 (GRCm39) E94G probably damaging Het
Tmbim7 A G 5: 3,714,304 (GRCm39) T14A probably damaging Het
Tmtc2 A T 10: 105,409,566 (GRCm39) Y15* probably null Het
Vmn2r67 T C 7: 84,805,046 (GRCm39) D22G probably benign Het
Vmn2r96 A G 17: 18,817,660 (GRCm39) I412M possibly damaging Het
Vmn2r-ps69 T A 7: 84,959,560 (GRCm39) noncoding transcript Het
Wdr17 A T 8: 55,123,363 (GRCm39) I479K probably damaging Het
Wt1 T C 2: 104,997,176 (GRCm39) V371A probably damaging Het
Zfp536 G T 7: 37,178,735 (GRCm39) S226Y probably damaging Het
Zfp827 T C 8: 79,803,108 (GRCm39) V560A probably benign 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
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
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'- ATGGGTAACACTTCCATTCCGCC -3'
(R):5'- TCGTCGAAGGAGATAACGCCACAC -3'

Sequencing Primer
(F):5'- ctaaccactgagcaacccc -3'
(R):5'- TTCACCACCTGTGGAAAGG -3'
Posted On 2014-05-09