Incidental Mutation 'IGL00925:Uhrf1'
ID 29272
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Uhrf1
Ensembl Gene ENSMUSG00000001228
Gene Name ubiquitin-like, containing PHD and RING finger domains, 1
Synonyms Np95, ICBP90
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL00925
Quality Score
Status
Chromosome 17
Chromosomal Location 56610405-56630486 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 56627535 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 697 (D697G)
Ref Sequence ENSEMBL: ENSMUSP00000108662 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000001258] [ENSMUST00000113035] [ENSMUST00000113038] [ENSMUST00000113039]
AlphaFold Q8VDF2
Predicted Effect probably benign
Transcript: ENSMUST00000001258
AA Change: D697G

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000001258
Gene: ENSMUSG00000001228
AA Change: D697G

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 benign
Transcript: ENSMUST00000113035
AA Change: D689G

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000108658
Gene: ENSMUSG00000001228
AA Change: D689G

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 benign
Transcript: ENSMUST00000113038
AA Change: D689G

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000108661
Gene: ENSMUSG00000001228
AA Change: D689G

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 benign
Transcript: ENSMUST00000113039
AA Change: D697G

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000108662
Gene: ENSMUSG00000001228
AA Change: D697G

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: ENSMUST00000139654
Coding Region Coverage
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: 26 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aoc1l2 T A 6: 48,907,974 (GRCm39) Y325N probably damaging Het
Atoh8 A G 6: 72,211,553 (GRCm39) V199A probably benign Het
Celf2 A T 2: 6,726,388 (GRCm39) D6E probably benign Het
Cep170 T C 1: 176,621,090 (GRCm39) D29G probably damaging Het
Cpb2 T C 14: 75,498,190 (GRCm39) Y118H possibly damaging Het
Esf1 A G 2: 140,009,737 (GRCm39) S200P probably benign Het
Glmn A T 5: 107,705,193 (GRCm39) N474K probably damaging Het
Maea T C 5: 33,529,645 (GRCm39) V377A probably benign Het
Npepps A G 11: 97,171,109 (GRCm39) V59A probably damaging Het
Ocrl A G X: 47,035,974 (GRCm39) E565G probably benign Het
Or5al7 T C 2: 85,993,264 (GRCm39) T10A probably benign Het
Pclo T C 5: 14,816,755 (GRCm39) S4544P unknown Het
Per3 T C 4: 151,098,055 (GRCm39) Y693C probably benign Het
Prkacb G T 3: 146,453,797 (GRCm39) P167H probably benign Het
Ptprt A G 2: 161,498,083 (GRCm39) S837P possibly damaging Het
Sema7a G T 9: 57,863,121 (GRCm39) C264F probably damaging Het
Slitrk4 G T X: 63,315,657 (GRCm39) P337T probably damaging Het
Tango6 T G 8: 107,422,077 (GRCm39) probably benign Het
Tecta T C 9: 42,286,331 (GRCm39) D775G probably benign Het
Tmem45a2 T A 16: 56,865,618 (GRCm39) N189Y probably damaging Het
Ttc8 A G 12: 98,942,277 (GRCm39) N364S probably damaging Het
Vmn1r185 G A 7: 26,310,615 (GRCm39) L297F probably benign Het
Vmn2r11 T C 5: 109,194,885 (GRCm39) T814A probably benign Het
Wdr36 A G 18: 32,978,684 (GRCm39) T198A possibly damaging Het
Zfhx2 G A 14: 55,310,518 (GRCm39) P676L probably benign Het
Zfp451 A G 1: 33,815,342 (GRCm39) probably benign Het
Other mutations in Uhrf1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00560:Uhrf1 APN 17 56,625,125 (GRCm39) missense probably damaging 1.00
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
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
Posted On 2013-04-17