Incidental Mutation 'IGL02739:Uhrf1'
ID305814
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Uhrf1
Ensembl Gene ENSMUSG00000001228
Gene Nameubiquitin-like, containing PHD and RING finger domains, 1
SynonymsICBP90, Np95
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL02739
Quality Score
Status
Chromosome17
Chromosomal Location56303321-56323486 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 56305129 bp
ZygosityHeterozygous
Amino Acid Change Lysine to Arginine at position 11 (K11R)
Ref Sequence ENSEMBL: ENSMUSP00000108662 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000001258] [ENSMUST00000097303] [ENSMUST00000113035] [ENSMUST00000113038] [ENSMUST00000113039] [ENSMUST00000142387]
Predicted Effect probably benign
Transcript: ENSMUST00000001258
AA Change: K11R

PolyPhen 2 Score 0.030 (Sensitivity: 0.95; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000001258
Gene: ENSMUSG00000001228
AA Change: K11R

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: ENSMUST00000097303
SMART Domains Protein: ENSMUSP00000094906
Gene: ENSMUSG00000073380

DomainStartEndE-ValueType
Pfam:Arrestin_N 7 144 3.3e-21 PFAM
Arrestin_C 170 307 7.47e-19 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000113035
AA Change: K11R

PolyPhen 2 Score 0.030 (Sensitivity: 0.95; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000108658
Gene: ENSMUSG00000001228
AA Change: K11R

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: K11R

PolyPhen 2 Score 0.030 (Sensitivity: 0.95; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000108661
Gene: ENSMUSG00000001228
AA Change: K11R

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: K11R

PolyPhen 2 Score 0.030 (Sensitivity: 0.95; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000108662
Gene: ENSMUSG00000001228
AA Change: K11R

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 probably benign
Transcript: ENSMUST00000142387
AA Change: K11R

PolyPhen 2 Score 0.028 (Sensitivity: 0.95; Specificity: 0.81)
SMART Domains Protein: ENSMUSP00000125830
Gene: ENSMUSG00000001228
AA Change: K11R

DomainStartEndE-ValueType
UBQ 1 74 9.37e-10 SMART
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: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aasdh A T 5: 76,878,517 C887S possibly damaging Het
Adamdec1 C A 14: 68,570,156 E352* probably null Het
Bglap2 A T 3: 88,378,012 probably null Het
Bsn A T 9: 108,112,546 H2002Q probably benign Het
Chtop T A 3: 90,502,250 Q165L possibly damaging Het
Clcn1 A T 6: 42,286,780 probably null Het
Ctsr T C 13: 61,161,844 T184A probably benign Het
Defb36 T C 2: 152,604,519 L11P unknown Het
Dock8 A G 19: 25,188,488 E1912G probably damaging Het
Dpp3 A G 19: 4,923,728 Y106H probably damaging Het
Epas1 A G 17: 86,805,282 T103A probably damaging Het
Epcam A T 17: 87,640,494 T131S probably benign Het
Fam169a A G 13: 97,094,055 probably benign Het
Gh T A 11: 106,301,733 probably benign Het
Kif20a A T 18: 34,628,943 K399* probably null Het
Lrp1b A G 2: 41,498,215 I466T probably damaging Het
Nlk A G 11: 78,574,851 V409A probably benign Het
Nomo1 A G 7: 46,044,307 probably null Het
Nr2c1 T A 10: 94,156,972 M16K probably damaging Het
Nxph2 A T 2: 23,399,900 Q88L probably benign Het
Olfr33 A G 7: 102,714,314 I33T possibly damaging Het
Pkdrej T A 15: 85,819,694 R680S probably benign Het
Pkhd1l1 A T 15: 44,540,950 N2325I probably benign Het
Pnliprp2 T C 19: 58,760,509 probably null Het
Ppp1r42 T A 1: 9,968,853 K347N probably benign Het
Prtg T C 9: 72,851,585 V407A possibly damaging Het
Psmb8 C A 17: 34,200,754 S194* probably null Het
Rnf214 T C 9: 45,869,474 I406V probably benign Het
Rreb1 C T 13: 37,893,821 S3L probably damaging Het
Sdad1 C T 5: 92,290,072 A539T probably benign Het
Sema3a A G 5: 13,451,161 Y57C probably damaging Het
Susd5 A G 9: 114,096,033 E328G possibly damaging Het
Syngr3 T C 17: 24,686,398 T175A probably damaging Het
Tcf20 T A 15: 82,856,080 Q390L probably damaging Het
Tex15 A G 8: 33,581,693 T2423A possibly damaging Het
Tlr1 T C 5: 64,927,126 N36S probably benign Het
Uchl4 C T 9: 64,235,537 T100M probably damaging Het
Vps13b T A 15: 35,879,900 D3040E probably damaging Het
Wdr62 A T 7: 30,242,460 Y640* probably null Het
Zkscan17 T G 11: 59,503,526 E83A probably damaging Het
Other mutations in Uhrf1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00560:Uhrf1 APN 17 56318125 missense probably damaging 1.00
IGL00925:Uhrf1 APN 17 56320535 missense probably benign 0.00
IGL01432:Uhrf1 APN 17 56318250 missense probably damaging 1.00
R0667:Uhrf1 UTSW 17 56310677 missense probably benign 0.01
R0685:Uhrf1 UTSW 17 56310742 missense probably damaging 0.99
R1121:Uhrf1 UTSW 17 56312917 missense probably benign
R1462:Uhrf1 UTSW 17 56318035 missense probably damaging 1.00
R1462:Uhrf1 UTSW 17 56318035 missense probably damaging 1.00
R2088:Uhrf1 UTSW 17 56318089 missense probably damaging 1.00
R2329:Uhrf1 UTSW 17 56310671 splice site probably null
R2331:Uhrf1 UTSW 17 56310671 splice site probably null
R2332:Uhrf1 UTSW 17 56310671 splice site probably null
R3624:Uhrf1 UTSW 17 56317023 missense probably damaging 1.00
R4065:Uhrf1 UTSW 17 56318020 missense probably damaging 1.00
R4882:Uhrf1 UTSW 17 56309401 missense probably damaging 1.00
R4901:Uhrf1 UTSW 17 56310834 missense probably benign 0.01
R4913:Uhrf1 UTSW 17 56315478 missense probably damaging 0.99
R5061:Uhrf1 UTSW 17 56320542 splice site probably null
R5186:Uhrf1 UTSW 17 56318340 missense probably damaging 1.00
R5711:Uhrf1 UTSW 17 56320259 missense possibly damaging 0.49
R6917:Uhrf1 UTSW 17 56309574 missense probably damaging 1.00
R7021:Uhrf1 UTSW 17 56320450 missense probably benign 0.04
R7241:Uhrf1 UTSW 17 56315193 missense probably damaging 1.00
R7692:Uhrf1 UTSW 17 56312905 missense possibly damaging 0.91
R7875:Uhrf1 UTSW 17 56312884 missense possibly damaging 0.46
R8540:Uhrf1 UTSW 17 56305105 missense probably damaging 1.00
R8731:Uhrf1 UTSW 17 56322363 missense probably damaging 1.00
Posted On2015-04-16