Incidental Mutation 'IGL02182:Uhrf2'
| ID |
283283 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Uhrf2
|
| Ensembl Gene |
ENSMUSG00000024817 |
| Gene Name |
ubiquitin-like, containing PHD and RING finger domains 2 |
| Synonyms |
Nirf, 2310065A22Rik, D130071B19Rik |
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.717)
|
| Stock # |
IGL02182
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
19 |
| Chromosomal Location |
30007920-30071126 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 30016609 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 86
(V86A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000108171
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000025739]
[ENSMUST00000112552]
|
| AlphaFold |
Q7TMI3 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000025739
AA Change: V100A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000025739
Gene: ENSMUSG00000024817
AA Change: V100A
| Domain | Start | End | E-Value | Type |
|---|
|
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 |
probably benign
Transcript: ENSMUST00000112552
AA Change: V86A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000108171
Gene: ENSMUSG00000024817
AA Change: V86A
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:UBQ
|
1 |
60 |
3e-32 |
BLAST |
|
PDB:1WY8|A
|
1 |
68 |
2e-34 |
PDB |
|
SCOP:d1lm8b_
|
1 |
91 |
2e-8 |
SMART |
|
Pfam:DUF3590
|
164 |
202 |
6.1e-9 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000134518
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000137368
|
| 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: 32 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam34 |
T |
A |
8: 44,104,790 (GRCm39) |
N285I |
probably benign |
Het |
| Adprh |
T |
C |
16: 38,267,838 (GRCm39) |
H149R |
probably benign |
Het |
| Ahctf1 |
A |
G |
1: 179,580,643 (GRCm39) |
V1853A |
probably benign |
Het |
| Ank1 |
T |
C |
8: 23,603,868 (GRCm39) |
V905A |
possibly damaging |
Het |
| Atp10b |
T |
G |
11: 43,139,774 (GRCm39) |
L1234R |
probably damaging |
Het |
| Bco1 |
G |
A |
8: 117,859,805 (GRCm39) |
A503T |
probably damaging |
Het |
| Clxn |
T |
A |
16: 14,738,659 (GRCm39) |
D163E |
probably damaging |
Het |
| Cpz |
T |
A |
5: 35,675,066 (GRCm39) |
Y61F |
probably damaging |
Het |
| Dnah8 |
T |
A |
17: 31,013,737 (GRCm39) |
M3826K |
possibly damaging |
Het |
| Dtd2 |
A |
G |
12: 52,046,492 (GRCm39) |
S116P |
probably benign |
Het |
| Eml5 |
T |
C |
12: 98,768,581 (GRCm39) |
D1498G |
probably damaging |
Het |
| Fat4 |
T |
C |
3: 38,944,695 (GRCm39) |
V1196A |
probably damaging |
Het |
| Gm15557 |
T |
C |
2: 155,783,737 (GRCm39) |
D405G |
probably damaging |
Het |
| Lpp |
C |
T |
16: 24,580,895 (GRCm39) |
R204W |
probably damaging |
Het |
| Mfsd11 |
T |
A |
11: 116,764,740 (GRCm39) |
V388E |
possibly damaging |
Het |
| Ms4a20 |
A |
T |
19: 11,074,436 (GRCm39) |
|
probably benign |
Het |
| Or10a3m |
A |
G |
7: 108,313,075 (GRCm39) |
T160A |
probably benign |
Het |
| Or52b4 |
A |
G |
7: 102,184,775 (GRCm39) |
I274V |
probably benign |
Het |
| Pik3cg |
A |
T |
12: 32,255,272 (GRCm39) |
D238E |
possibly damaging |
Het |
| Plcb3 |
T |
C |
19: 6,946,988 (GRCm39) |
H9R |
probably benign |
Het |
| Ppp3cc |
A |
C |
14: 70,462,473 (GRCm39) |
V388G |
probably benign |
Het |
| Ranbp2 |
T |
A |
10: 58,321,582 (GRCm39) |
C2626* |
probably null |
Het |
| Resp18 |
T |
C |
1: 75,250,615 (GRCm39) |
T155A |
probably benign |
Het |
| Ror2 |
C |
T |
13: 53,264,764 (GRCm39) |
S764N |
probably damaging |
Het |
| Scarb2 |
C |
T |
5: 92,601,913 (GRCm39) |
S327N |
probably damaging |
Het |
| Secisbp2l |
T |
A |
2: 125,589,497 (GRCm39) |
I684F |
probably damaging |
Het |
| Slc39a6 |
T |
C |
18: 24,734,347 (GRCm39) |
D114G |
probably damaging |
Het |
| Smap1 |
T |
A |
1: 23,898,180 (GRCm39) |
E85D |
probably damaging |
Het |
| Tas2r121 |
T |
A |
6: 132,677,133 (GRCm39) |
I280F |
probably damaging |
Het |
| Vip |
A |
T |
10: 5,593,561 (GRCm39) |
Y91F |
probably benign |
Het |
| Zfp318 |
C |
T |
17: 46,707,736 (GRCm39) |
R265* |
probably null |
Het |
| Zfp618 |
G |
A |
4: 63,013,798 (GRCm39) |
|
probably benign |
Het |
|
| Other mutations in Uhrf2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00235:Uhrf2
|
APN |
19 |
30,051,346 (GRCm39) |
missense |
probably benign |
0.03 |
|
IGL01290:Uhrf2
|
APN |
19 |
30,016,701 (GRCm39) |
splice site |
probably benign |
|
|
IGL01599:Uhrf2
|
APN |
19 |
30,069,520 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01724:Uhrf2
|
APN |
19 |
30,052,652 (GRCm39) |
missense |
probably benign |
0.29 |
|
IGL01861:Uhrf2
|
APN |
19 |
30,063,804 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02673:Uhrf2
|
APN |
19 |
30,070,207 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0502:Uhrf2
|
UTSW |
19 |
30,070,176 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1136:Uhrf2
|
UTSW |
19 |
30,033,626 (GRCm39) |
splice site |
probably benign |
|
|
R1510:Uhrf2
|
UTSW |
19 |
30,016,461 (GRCm39) |
splice site |
probably benign |
|
|
R2110:Uhrf2
|
UTSW |
19 |
30,033,888 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3760:Uhrf2
|
UTSW |
19 |
30,051,331 (GRCm39) |
missense |
probably benign |
0.20 |
|
R3951:Uhrf2
|
UTSW |
19 |
30,057,261 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3967:Uhrf2
|
UTSW |
19 |
30,057,315 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3970:Uhrf2
|
UTSW |
19 |
30,057,315 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5129:Uhrf2
|
UTSW |
19 |
30,052,621 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5568:Uhrf2
|
UTSW |
19 |
30,016,488 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5875:Uhrf2
|
UTSW |
19 |
30,066,702 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7053:Uhrf2
|
UTSW |
19 |
30,069,519 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7079:Uhrf2
|
UTSW |
19 |
30,060,190 (GRCm39) |
missense |
probably null |
1.00 |
|
R7298:Uhrf2
|
UTSW |
19 |
30,065,949 (GRCm39) |
missense |
probably benign |
|
|
R7382:Uhrf2
|
UTSW |
19 |
30,048,788 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R7575:Uhrf2
|
UTSW |
19 |
30,048,768 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7730:Uhrf2
|
UTSW |
19 |
30,052,501 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7959:Uhrf2
|
UTSW |
19 |
30,063,660 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8196:Uhrf2
|
UTSW |
19 |
30,051,329 (GRCm39) |
missense |
probably benign |
|
|
R9028:Uhrf2
|
UTSW |
19 |
30,066,744 (GRCm39) |
critical splice donor site |
probably null |
|
|
R9052:Uhrf2
|
UTSW |
19 |
30,070,236 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9290:Uhrf2
|
UTSW |
19 |
30,055,416 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9430:Uhrf2
|
UTSW |
19 |
30,016,659 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9697:Uhrf2
|
UTSW |
19 |
30,063,780 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9712:Uhrf2
|
UTSW |
19 |
30,033,881 (GRCm39) |
missense |
possibly damaging |
0.75 |
|
RF020:Uhrf2
|
UTSW |
19 |
30,063,791 (GRCm39) |
missense |
probably damaging |
1.00 |
|
X0020:Uhrf2
|
UTSW |
19 |
30,066,745 (GRCm39) |
critical splice donor site |
probably null |
|
|
Z1177:Uhrf2
|
UTSW |
19 |
30,057,261 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2015-04-16 |
Incidental Mutation