Incidental Mutation 'R3967:Uhrf2'
ID |
312417 |
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 |
040838-MU
|
Accession Numbers |
|
Essential gene? |
Possibly essential
(E-score: 0.717)
|
Stock # |
R3967 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
19 |
Chromosomal Location |
30007920-30071126 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 30057315 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Alanine
at position 491
(V491A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000025739
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000025739]
|
AlphaFold |
Q7TMI3 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000025739
AA Change: V491A
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000025739 Gene: ENSMUSG00000024817 AA Change: V491A
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 |
noncoding transcript
Transcript: ENSMUST00000129420
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000137368
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000150532
|
Meta Mutation Damage Score |
0.7727 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.1%
- 20x: 94.2%
|
Validation Efficiency |
100% (44/44) |
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: 41 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700018B08Rik |
G |
T |
8: 122,266,719 (GRCm39) |
Q56K |
possibly damaging |
Het |
Adam18 |
C |
A |
8: 25,119,726 (GRCm39) |
V518L |
probably benign |
Het |
Akap6 |
A |
T |
12: 53,188,236 (GRCm39) |
K1883N |
probably damaging |
Het |
Arhgef12 |
C |
A |
9: 42,916,847 (GRCm39) |
R432L |
probably damaging |
Het |
Armcx6 |
G |
T |
X: 133,650,505 (GRCm39) |
H109N |
possibly damaging |
Het |
Ctnnd2 |
C |
A |
15: 30,647,075 (GRCm39) |
A257E |
possibly damaging |
Het |
Depdc5 |
T |
A |
5: 33,101,459 (GRCm39) |
C322* |
probably null |
Het |
Enpp7 |
T |
C |
11: 118,881,827 (GRCm39) |
I324T |
probably damaging |
Het |
Gm14401 |
T |
C |
2: 176,778,789 (GRCm39) |
Y292H |
possibly damaging |
Het |
Gm6871 |
A |
T |
7: 41,196,148 (GRCm39) |
H196Q |
probably damaging |
Het |
Gm9964 |
T |
C |
11: 79,187,202 (GRCm39) |
T82A |
unknown |
Het |
Gria2 |
T |
A |
3: 80,618,084 (GRCm39) |
Q317L |
possibly damaging |
Het |
Grtp1 |
G |
A |
8: 13,239,705 (GRCm39) |
T134I |
probably benign |
Het |
Itpkb |
A |
T |
1: 180,155,363 (GRCm39) |
|
probably benign |
Het |
Kbtbd12 |
A |
G |
6: 88,595,488 (GRCm39) |
V114A |
probably benign |
Het |
Lama3 |
A |
T |
18: 12,713,398 (GRCm39) |
K3230M |
probably damaging |
Het |
Ly75 |
T |
C |
2: 60,158,217 (GRCm39) |
I1023V |
possibly damaging |
Het |
Myof |
C |
T |
19: 37,889,711 (GRCm39) |
V1287M |
probably damaging |
Het |
Myof |
T |
G |
19: 38,011,058 (GRCm39) |
D60A |
possibly damaging |
Het |
Narf |
A |
T |
11: 121,129,247 (GRCm39) |
E10D |
possibly damaging |
Het |
Nlrx1 |
A |
T |
9: 44,166,722 (GRCm39) |
|
probably benign |
Het |
Or10a3m |
A |
G |
7: 108,313,060 (GRCm39) |
M155V |
probably benign |
Het |
Or8b54 |
A |
G |
9: 38,686,664 (GRCm39) |
T38A |
probably benign |
Het |
Pabpc5 |
A |
G |
X: 118,838,321 (GRCm39) |
E212G |
probably benign |
Het |
Pidd1 |
A |
G |
7: 141,018,995 (GRCm39) |
F829L |
possibly damaging |
Het |
Pik3r2 |
G |
A |
8: 71,223,065 (GRCm39) |
R452C |
probably benign |
Het |
Pkn2 |
A |
G |
3: 142,515,438 (GRCm39) |
C658R |
probably damaging |
Het |
Psd |
C |
T |
19: 46,312,845 (GRCm39) |
R175H |
probably benign |
Het |
Rab39 |
G |
A |
9: 53,597,932 (GRCm39) |
A111V |
possibly damaging |
Het |
Rb1cc1 |
T |
A |
1: 6,318,494 (GRCm39) |
|
probably benign |
Het |
Rnf39 |
C |
A |
17: 37,254,035 (GRCm39) |
T19K |
probably damaging |
Het |
Slc16a3 |
C |
T |
11: 120,846,251 (GRCm39) |
T60M |
possibly damaging |
Het |
Slc26a4 |
G |
T |
12: 31,578,686 (GRCm39) |
H656N |
probably damaging |
Het |
Slc27a1 |
A |
G |
8: 72,032,431 (GRCm39) |
E184G |
probably damaging |
Het |
Smc6 |
T |
C |
12: 11,348,327 (GRCm39) |
V742A |
probably benign |
Het |
Thoc1 |
T |
A |
18: 9,968,787 (GRCm39) |
V186D |
probably damaging |
Het |
Uri1 |
A |
G |
7: 37,664,927 (GRCm39) |
V253A |
possibly damaging |
Het |
Vmn2r83 |
T |
A |
10: 79,327,154 (GRCm39) |
N587K |
probably benign |
Het |
Vmn2r88 |
A |
T |
14: 51,650,647 (GRCm39) |
Y120F |
probably benign |
Het |
Wwox |
G |
A |
8: 115,215,673 (GRCm39) |
A149T |
probably damaging |
Het |
Zfp536 |
T |
C |
7: 37,173,255 (GRCm39) |
*282W |
probably null |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- GCATATTGTAAGTGACTCCATTGG -3'
(R):5'- GTGGACTGCAGCTTTATCCATATC -3'
Sequencing Primer
(F):5'- TGTAAGTGACTCCATTGGTACTC -3'
(R):5'- TACTGTGAAACTACAAAAATAGGCC -3'
|
Posted On |
2015-04-29 |