Incidental Mutation 'R7053:Uhrf2'
ID |
547747 |
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 |
045150-MU
|
Accession Numbers |
|
Essential gene? |
Possibly essential
(E-score: 0.717)
|
Stock # |
R7053 (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 30069519 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Cysteine to Serine
at position 749
(C749S)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000025739
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000025739]
|
AlphaFold |
Q7TMI3 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000025739
AA Change: C749S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000025739 Gene: ENSMUSG00000024817 AA Change: C749S
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: 100.0%
- 10x: 99.7%
- 20x: 99.1%
|
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 |
Adam26a |
A |
T |
8: 44,021,836 (GRCm39) |
C551* |
probably null |
Het |
Aldh1l1 |
C |
A |
6: 90,540,420 (GRCm39) |
T235K |
possibly damaging |
Het |
Atp6v0a2 |
A |
G |
5: 124,783,923 (GRCm39) |
E257G |
probably damaging |
Het |
AW146154 |
A |
G |
7: 41,131,988 (GRCm39) |
|
probably null |
Het |
BC048507 |
T |
C |
13: 68,011,772 (GRCm39) |
Y50H |
probably benign |
Het |
Brip1 |
T |
C |
11: 86,083,791 (GRCm39) |
N77D |
possibly damaging |
Het |
Ccdc13 |
T |
C |
9: 121,662,904 (GRCm39) |
E37G |
probably damaging |
Het |
Ccn6 |
A |
G |
10: 39,034,297 (GRCm39) |
Y102H |
probably damaging |
Het |
Col27a1 |
T |
A |
4: 63,251,404 (GRCm39) |
|
probably benign |
Het |
Corin |
T |
A |
5: 72,458,870 (GRCm39) |
I960L |
probably benign |
Het |
Csnk2b |
A |
G |
17: 35,335,422 (GRCm39) |
|
probably benign |
Het |
Cyp2d26 |
T |
C |
15: 82,676,801 (GRCm39) |
S182G |
probably benign |
Het |
Dennd1a |
A |
G |
2: 37,851,666 (GRCm39) |
L74P |
probably damaging |
Het |
Dip2c |
A |
G |
13: 9,660,740 (GRCm39) |
D838G |
probably damaging |
Het |
Dkkl1 |
G |
T |
7: 44,857,022 (GRCm39) |
Q182K |
probably damaging |
Het |
Dnai2 |
T |
C |
11: 114,629,521 (GRCm39) |
S183P |
probably damaging |
Het |
Dnhd1 |
T |
C |
7: 105,344,161 (GRCm39) |
L1835P |
probably damaging |
Het |
Espl1 |
T |
C |
15: 102,225,328 (GRCm39) |
|
probably null |
Het |
Fam174a |
C |
T |
1: 95,252,953 (GRCm39) |
A185V |
probably damaging |
Het |
Fhip1b |
C |
T |
7: 105,033,779 (GRCm39) |
G479D |
probably damaging |
Het |
Gm40460 |
CACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAG |
CACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAG |
7: 141,794,554 (GRCm39) |
|
probably benign |
Het |
Grid2 |
G |
T |
6: 64,677,402 (GRCm39) |
A74S |
unknown |
Het |
Gsdma3 |
T |
A |
11: 98,520,621 (GRCm39) |
M84K |
possibly damaging |
Het |
Hlcs |
A |
T |
16: 94,068,874 (GRCm39) |
S262R |
possibly damaging |
Het |
Lrp1 |
A |
G |
10: 127,376,963 (GRCm39) |
C4205R |
probably damaging |
Het |
Mdc1 |
C |
T |
17: 36,157,218 (GRCm39) |
A181V |
probably benign |
Het |
Mdga2 |
T |
A |
12: 66,736,158 (GRCm39) |
I357F |
probably benign |
Het |
Mfn1 |
A |
G |
3: 32,586,114 (GRCm39) |
I21V |
probably benign |
Het |
Mgat4b |
C |
T |
11: 50,124,367 (GRCm39) |
T409M |
probably damaging |
Het |
Mgat4d |
G |
T |
8: 84,098,261 (GRCm39) |
K341N |
probably damaging |
Het |
Mpo |
A |
T |
11: 87,694,336 (GRCm39) |
N109Y |
probably damaging |
Het |
Mvp |
T |
C |
7: 126,586,776 (GRCm39) |
Q785R |
possibly damaging |
Het |
Nim1k |
A |
G |
13: 120,189,145 (GRCm39) |
V88A |
probably damaging |
Het |
Oasl2 |
A |
T |
5: 115,049,291 (GRCm39) |
I464L |
possibly damaging |
Het |
Or5m11b |
G |
T |
2: 85,806,358 (GRCm39) |
C257F |
possibly damaging |
Het |
Pkd1l2 |
A |
G |
8: 117,740,681 (GRCm39) |
F2139L |
probably damaging |
Het |
Pop1 |
T |
G |
15: 34,530,421 (GRCm39) |
S940A |
probably benign |
Het |
Ppp1r9a |
T |
A |
6: 4,905,670 (GRCm39) |
M75K |
probably damaging |
Het |
Prdm15 |
G |
A |
16: 97,595,742 (GRCm39) |
Q1029* |
probably null |
Het |
Rffl |
T |
C |
11: 82,703,497 (GRCm39) |
K142R |
probably null |
Het |
Rhou |
A |
G |
8: 124,380,934 (GRCm39) |
|
probably benign |
Het |
Rp1l1 |
A |
T |
14: 64,268,958 (GRCm39) |
T1515S |
possibly damaging |
Het |
Serpina1b |
T |
A |
12: 103,698,688 (GRCm39) |
S54C |
possibly damaging |
Het |
Slc30a2 |
G |
A |
4: 134,074,726 (GRCm39) |
R161Q |
probably damaging |
Het |
Taok3 |
T |
A |
5: 117,390,627 (GRCm39) |
D529E |
probably benign |
Het |
Tmem18 |
T |
A |
12: 30,634,506 (GRCm39) |
M1K |
probably null |
Het |
Tmem269 |
T |
A |
4: 119,066,464 (GRCm39) |
H198L |
probably damaging |
Het |
Tnrc18 |
A |
G |
5: 142,772,984 (GRCm39) |
V432A |
unknown |
Het |
Ttc6 |
A |
T |
12: 57,707,318 (GRCm39) |
T742S |
probably benign |
Het |
Unc13c |
G |
A |
9: 73,839,579 (GRCm39) |
T424I |
probably damaging |
Het |
Vmn2r111 |
T |
C |
17: 22,778,032 (GRCm39) |
N549S |
possibly damaging |
Het |
Vmn2r61 |
A |
C |
7: 41,916,557 (GRCm39) |
D390A |
probably damaging |
Het |
Xpo7 |
A |
G |
14: 70,922,298 (GRCm39) |
|
probably null |
Het |
Zfp948 |
T |
A |
17: 21,805,121 (GRCm39) |
L37* |
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 |
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 |
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'- TACAATGAGCTGGATCCTTCC -3'
(R):5'- CACTGTGGCTATCTCACCAC -3'
Sequencing Primer
(F):5'- TACAATGAGCTGGATCCTTCCTTGTG -3'
(R):5'- TCACCACCGAGATGTAATTAAAAAG -3'
|
Posted On |
2019-05-13 |