Incidental Mutation 'IGL02673:Uhrf2'
ID303000
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Uhrf2
Ensembl Gene ENSMUSG00000024817
Gene Nameubiquitin-like, containing PHD and RING finger domains 2
SynonymsNirf, D130071B19Rik, 2310065A22Rik
Accession Numbers
Is this an essential gene? Probably essential (E-score: 0.799) question?
Stock #IGL02673
Quality Score
Status
Chromosome19
Chromosomal Location30030513-30093722 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 30092807 bp
ZygosityHeterozygous
Amino Acid Change Asparagine to Lysine at position 785 (N785K)
Ref Sequence ENSEMBL: ENSMUSP00000025739 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000025739]
Predicted Effect probably damaging
Transcript: ENSMUST00000025739
AA Change: N785K

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000025739
Gene: ENSMUSG00000024817
AA Change: N785K

DomainStartEndE-ValueType
UBQ 1 74 8.95e-7 SMART
Pfam:TTD 125 313 2.2e-66 PFAM
PHD 347 394 9.54e-11 SMART
RING 348 393 1.38e0 SMART
SRA 444 617 2.82e-77 SMART
low complexity region 644 661 N/A INTRINSIC
RING 734 772 3.67e-3 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000123773
Predicted Effect noncoding transcript
Transcript: ENSMUST00000143769
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 nuclear protein which is involved in cell-cycle regulation. The encoded protein is a ubiquitin-ligase capable of ubiquinating PCNP (PEST-containing nuclear protein), and together they may play a role in tumorigenesis. The encoded protein contains an NIRF_N domain, a PHD finger, a set- and ring-associated (SRA) domain, and a RING finger domain and several of these domains have been shown to be essential for the regulation of cell proliferation. This protein may also have a role in intranuclear degradation of polyglutamine aggregates. Alternative splicing results in multiple transcript variants some of which are non-protein coding. [provided by RefSeq, Feb 2012]
PHENOTYPE: Homozygous KO causes deregulated expression of neuron-related genes, reduced DNA methylation in the brain and impaired contextual conditioning and spatial memory. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9930012K11Rik T A 14: 70,157,607 T33S probably benign Het
Abca4 T C 3: 122,103,501 Y610H probably damaging Het
Agl A T 3: 116,781,599 C630S probably benign Het
Alkbh6 G T 7: 30,314,111 G202C probably damaging Het
Ascc3 A T 10: 50,660,673 M701L probably benign Het
Bpgm T A 6: 34,487,834 L162Q probably damaging Het
Ccdc144b A C 3: 36,046,699 probably benign Het
Ccdc150 A G 1: 54,328,990 T592A probably benign Het
Chpf2 G A 5: 24,591,304 R416Q probably benign Het
Col14a1 G A 15: 55,418,782 G813E unknown Het
Col18a1 C T 10: 77,059,163 G983D probably damaging Het
Col5a1 C T 2: 27,974,715 A737V unknown Het
Cyp2a22 T G 7: 26,938,100 K157Q probably benign Het
Dhx57 A G 17: 80,267,545 V668A probably damaging Het
Eps8l1 T A 7: 4,478,732 V743E probably damaging Het
Fnbp4 C T 2: 90,763,472 T557M probably benign Het
Fzd5 C T 1: 64,735,106 E499K possibly damaging Het
Il1r2 A G 1: 40,115,163 Y230C probably damaging Het
Insrr A C 3: 87,813,061 E1002A possibly damaging Het
Kdm4a C T 4: 118,168,572 D146N probably benign Het
Kidins220 G A 12: 24,994,992 V262M probably damaging Het
Kif26b C T 1: 178,821,605 P430L probably damaging Het
Mamdc4 T C 2: 25,570,054 S62G probably benign Het
Mcu C A 10: 59,467,644 V124F probably damaging Het
Mlf1 A G 3: 67,393,947 M98V probably benign Het
Mogs T C 6: 83,118,218 V672A probably damaging Het
Ntrk3 T C 7: 78,250,764 D609G probably damaging Het
Olfr351 C T 2: 36,860,176 M57I probably benign Het
Pdlim5 T A 3: 142,352,787 E65D probably damaging Het
Peg3 T C 7: 6,710,414 N603S probably damaging Het
Pkd1 A G 17: 24,571,283 Y980C probably benign Het
Rack1 A G 11: 48,800,530 T23A probably benign Het
Rad50 A T 11: 53,688,240 I497K probably benign Het
Sin3a C A 9: 57,107,441 Q649K probably damaging Het
Sirt6 A G 10: 81,625,837 F46L probably damaging Het
Slc40a1 A T 1: 45,918,416 I136N possibly damaging Het
Sspo G A 6: 48,475,860 R2834H probably damaging Het
Sspo G T 6: 48,498,775 probably null Het
Sycp2 T A 2: 178,394,211 T228S possibly damaging Het
Vmn2r58 T A 7: 41,864,658 Y187F possibly damaging Het
Vmn2r80 A G 10: 79,169,484 I318M probably benign Het
Vps13c T C 9: 67,878,098 L249P probably damaging Het
Zw10 T A 9: 49,077,593 probably null Het
Other mutations in Uhrf2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00235:Uhrf2 APN 19 30073946 missense probably benign 0.03
IGL01290:Uhrf2 APN 19 30039301 splice site probably benign
IGL01599:Uhrf2 APN 19 30092120 missense probably damaging 1.00
IGL01724:Uhrf2 APN 19 30075252 missense probably benign 0.29
IGL01861:Uhrf2 APN 19 30086404 missense probably damaging 1.00
IGL02182:Uhrf2 APN 19 30039209 missense probably benign
R0502:Uhrf2 UTSW 19 30092776 missense probably damaging 1.00
R1136:Uhrf2 UTSW 19 30056226 splice site probably benign
R1510:Uhrf2 UTSW 19 30039061 splice site probably benign
R2110:Uhrf2 UTSW 19 30056488 missense probably damaging 1.00
R3760:Uhrf2 UTSW 19 30073931 missense probably benign 0.20
R3951:Uhrf2 UTSW 19 30079861 missense probably damaging 1.00
R3967:Uhrf2 UTSW 19 30079915 missense probably damaging 1.00
R3970:Uhrf2 UTSW 19 30079915 missense probably damaging 1.00
R5129:Uhrf2 UTSW 19 30075221 missense probably benign 0.00
R5568:Uhrf2 UTSW 19 30039088 missense probably damaging 1.00
R5875:Uhrf2 UTSW 19 30089302 missense probably damaging 1.00
R7053:Uhrf2 UTSW 19 30092119 missense probably damaging 1.00
R7079:Uhrf2 UTSW 19 30082790 missense probably null 1.00
R7298:Uhrf2 UTSW 19 30088549 missense probably benign
R7382:Uhrf2 UTSW 19 30071388 missense possibly damaging 0.90
R7575:Uhrf2 UTSW 19 30071368 missense probably damaging 1.00
R7730:Uhrf2 UTSW 19 30075101 missense probably damaging 1.00
R7959:Uhrf2 UTSW 19 30086260 missense probably damaging 1.00
R8196:Uhrf2 UTSW 19 30073929 missense probably benign
RF020:Uhrf2 UTSW 19 30086391 missense probably damaging 1.00
X0020:Uhrf2 UTSW 19 30089345 critical splice donor site probably null
Z1177:Uhrf2 UTSW 19 30079861 missense probably damaging 1.00
Posted On2015-04-16