Incidental Mutation 'R7730:Uhrf2'
ID |
595799 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Uhrf2
|
Ensembl Gene |
ENSMUSG00000024817 |
Gene Name |
ubiquitin-like, containing PHD and RING finger domains 2 |
Synonyms |
Nirf, 2310065A22Rik, D130071B19Rik |
MMRRC Submission |
045786-MU
|
Accession Numbers |
|
Essential gene? |
Possibly essential
(E-score: 0.717)
|
Stock # |
R7730 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
19 |
Chromosomal Location |
30007920-30071126 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 30052501 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Cysteine to Serine
at position 332
(C332S)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000025739
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000025739]
|
AlphaFold |
Q7TMI3 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000025739
AA Change: C332S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000025739 Gene: ENSMUSG00000024817 AA Change: C332S
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 |
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.0%
|
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: 54 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
9930111J21Rik1 |
T |
A |
11: 48,838,703 (GRCm39) |
H628L |
probably benign |
Het |
Adam6a |
T |
A |
12: 113,507,660 (GRCm39) |
V11E |
possibly damaging |
Het |
Amotl1 |
T |
G |
9: 14,467,059 (GRCm39) |
K660T |
possibly damaging |
Het |
Ap4m1 |
T |
C |
5: 138,171,077 (GRCm39) |
I59T |
probably damaging |
Het |
Brd3 |
T |
C |
2: 27,346,967 (GRCm39) |
Y389C |
probably damaging |
Het |
C1ra |
G |
A |
6: 124,494,684 (GRCm39) |
E316K |
probably benign |
Het |
Card11 |
C |
A |
5: 140,871,751 (GRCm39) |
R650L |
probably damaging |
Het |
Cercam |
G |
A |
2: 29,762,574 (GRCm39) |
|
probably null |
Het |
Cnst |
T |
C |
1: 179,452,650 (GRCm39) |
C673R |
probably damaging |
Het |
Dld |
G |
T |
12: 31,390,864 (GRCm39) |
T194K |
probably benign |
Het |
Dnah12 |
T |
A |
14: 26,507,890 (GRCm39) |
W1714R |
probably damaging |
Het |
Dsg1a |
T |
G |
18: 20,464,768 (GRCm39) |
V421G |
possibly damaging |
Het |
Fer1l4 |
G |
T |
2: 155,890,854 (GRCm39) |
P188Q |
probably benign |
Het |
Gpr158 |
T |
C |
2: 21,831,158 (GRCm39) |
S753P |
probably damaging |
Het |
Hdc |
A |
T |
2: 126,436,002 (GRCm39) |
M623K |
possibly damaging |
Het |
Herc1 |
CAACCCTGGTAAC |
CAAC |
9: 66,400,472 (GRCm39) |
|
probably benign |
Het |
Igf2r |
A |
T |
17: 12,954,878 (GRCm39) |
F203I |
probably damaging |
Het |
Jag2 |
A |
T |
12: 112,885,661 (GRCm39) |
I145N |
probably damaging |
Het |
Kcnt2 |
T |
A |
1: 140,446,686 (GRCm39) |
F694I |
probably benign |
Het |
Lpl |
A |
T |
8: 69,340,100 (GRCm39) |
R32* |
probably null |
Het |
Mcpt4 |
T |
A |
14: 56,297,428 (GRCm39) |
I243L |
probably benign |
Het |
Mtf1 |
C |
A |
4: 124,732,412 (GRCm39) |
A490E |
possibly damaging |
Het |
Mycbp2 |
A |
T |
14: 103,360,791 (GRCm39) |
M4497K |
probably damaging |
Het |
Myog |
T |
C |
1: 134,218,914 (GRCm39) |
|
probably null |
Het |
Nav2 |
T |
C |
7: 49,222,145 (GRCm39) |
S1757P |
probably damaging |
Het |
Or7g18 |
T |
G |
9: 18,786,709 (GRCm39) |
F26V |
probably benign |
Het |
Osmr |
T |
A |
15: 6,853,963 (GRCm39) |
I583F |
probably damaging |
Het |
Phf19 |
T |
A |
2: 34,785,816 (GRCm39) |
E551V |
probably damaging |
Het |
Plxnb2 |
A |
G |
15: 89,046,533 (GRCm39) |
M870T |
probably benign |
Het |
Psat1 |
A |
G |
19: 15,895,720 (GRCm39) |
F83L |
probably damaging |
Het |
Reep1 |
T |
A |
6: 71,757,725 (GRCm39) |
V108D |
possibly damaging |
Het |
Rorc |
A |
G |
3: 94,300,421 (GRCm39) |
T455A |
probably benign |
Het |
Serinc5 |
T |
G |
13: 92,821,698 (GRCm39) |
I169S |
probably damaging |
Het |
Serpinb6c |
T |
C |
13: 34,083,292 (GRCm39) |
M41V |
probably damaging |
Het |
Sgsm3 |
A |
T |
15: 80,892,927 (GRCm39) |
N335Y |
probably damaging |
Het |
Slamf7 |
C |
T |
1: 171,468,589 (GRCm39) |
R101H |
possibly damaging |
Het |
Slc17a4 |
A |
T |
13: 24,084,503 (GRCm39) |
L427* |
probably null |
Het |
Slc35a5 |
T |
C |
16: 44,964,246 (GRCm39) |
Q329R |
probably damaging |
Het |
Slc45a1 |
C |
T |
4: 150,715,397 (GRCm39) |
C656Y |
probably damaging |
Het |
Srsf6 |
T |
C |
2: 162,773,643 (GRCm39) |
I18T |
probably damaging |
Het |
Syn3 |
T |
G |
10: 86,284,773 (GRCm39) |
H109P |
probably benign |
Het |
Synj2 |
T |
C |
17: 6,066,562 (GRCm39) |
V580A |
probably benign |
Het |
Tbc1d9b |
T |
C |
11: 50,026,742 (GRCm39) |
V70A |
possibly damaging |
Het |
Tc2n |
A |
G |
12: 101,617,406 (GRCm39) |
Y402H |
probably damaging |
Het |
Tmbim4 |
T |
C |
10: 120,059,767 (GRCm39) |
C164R |
possibly damaging |
Het |
Tnfrsf11b |
T |
A |
15: 54,117,470 (GRCm39) |
R262* |
probably null |
Het |
Tnip1 |
T |
C |
11: 54,828,805 (GRCm39) |
K121E |
probably benign |
Het |
Tut1 |
T |
C |
19: 8,941,740 (GRCm39) |
|
probably null |
Het |
Vmn2r101 |
A |
G |
17: 19,831,950 (GRCm39) |
I649V |
possibly damaging |
Het |
Vwa8 |
A |
G |
14: 79,232,589 (GRCm39) |
T644A |
probably benign |
Het |
Zfhx2 |
T |
C |
14: 55,304,357 (GRCm39) |
H1209R |
possibly damaging |
Het |
Zfp384 |
A |
G |
6: 125,008,635 (GRCm39) |
I306V |
probably benign |
Het |
Zfp964 |
A |
G |
8: 70,116,360 (GRCm39) |
E320G |
possibly damaging |
Het |
Zmym2 |
A |
T |
14: 57,193,638 (GRCm39) |
Y1151F |
possibly damaging |
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 |
IGL02182:Uhrf2
|
APN |
19 |
30,016,609 (GRCm39) |
missense |
probably benign |
|
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- GGTGCTTATTAAACCTCACCCTG -3'
(R):5'- AATACCAGTATTCCTCTTCCGG -3'
Sequencing Primer
(F):5'- gagctagagagatagctca -3'
(R):5'- AGTATTCCTCTTCCGGGACTTTG -3'
|
Posted On |
2019-11-12 |