Incidental Mutation 'R7079:Uhrf2'
| ID |
549445 |
| 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 |
045173-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.717)
|
| Stock # |
R7079 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
19 |
| Chromosomal Location |
30007920-30071126 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to G
at 30060190 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Lysine
at position 519
(N519K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000025739
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000025739]
|
| AlphaFold |
Q7TMI3 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000025739
AA Change: N519K
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000025739
Gene: ENSMUSG00000024817
AA Change: N519K
| 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: 99.8%
- 20x: 99.2%
|
| Validation Efficiency |
98% (50/51) |
| 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: 48 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2210408I21Rik |
T |
C |
13: 77,402,323 (GRCm39) |
L405S |
possibly damaging |
Het |
| 2310009B15Rik |
T |
A |
1: 138,779,865 (GRCm39) |
Q129L |
possibly damaging |
Het |
| 4921509C19Rik |
T |
G |
2: 151,315,198 (GRCm39) |
D160A |
probably damaging |
Het |
| Aspn |
A |
G |
13: 49,720,031 (GRCm39) |
Y349C |
probably damaging |
Het |
| Atp2b1 |
A |
G |
10: 98,854,595 (GRCm39) |
T1063A |
probably benign |
Het |
| BC035947 |
T |
C |
1: 78,474,552 (GRCm39) |
E660G |
probably damaging |
Het |
| Cadps2 |
A |
G |
6: 23,323,408 (GRCm39) |
L970P |
probably damaging |
Het |
| Caskin1 |
T |
C |
17: 24,717,858 (GRCm39) |
I215T |
probably benign |
Het |
| Cort |
C |
G |
4: 149,211,848 (GRCm39) |
G85R |
probably benign |
Het |
| Cyp1a2 |
T |
C |
9: 57,589,161 (GRCm39) |
I218V |
probably benign |
Het |
| Egfem1 |
T |
A |
3: 29,207,731 (GRCm39) |
H140Q |
probably benign |
Het |
| Elapor2 |
A |
G |
5: 9,449,253 (GRCm39) |
Y127C |
probably damaging |
Het |
| Fbln5 |
G |
A |
12: 101,723,667 (GRCm39) |
P345S |
probably damaging |
Het |
| Fbxw21 |
A |
G |
9: 108,974,578 (GRCm39) |
I314T |
probably benign |
Het |
| Gfpt2 |
G |
A |
11: 49,728,578 (GRCm39) |
V679I |
possibly damaging |
Het |
| Gm10837 |
C |
G |
14: 122,728,142 (GRCm39) |
A6G |
unknown |
Het |
| Grm1 |
T |
C |
10: 10,955,702 (GRCm39) |
D194G |
probably damaging |
Het |
| Hectd1 |
G |
A |
12: 51,834,638 (GRCm39) |
T875M |
possibly damaging |
Het |
| Hey2 |
T |
A |
10: 30,710,382 (GRCm39) |
I124F |
probably benign |
Het |
| Hhat |
T |
C |
1: 192,235,354 (GRCm39) |
H434R |
possibly damaging |
Het |
| Itpripl2 |
A |
G |
7: 118,090,092 (GRCm39) |
F156L |
possibly damaging |
Het |
| Kctd11 |
A |
G |
11: 69,770,847 (GRCm39) |
Y64H |
probably damaging |
Het |
| Lmln |
T |
C |
16: 32,887,661 (GRCm39) |
L97P |
probably benign |
Het |
| Lrrc30 |
T |
C |
17: 67,939,016 (GRCm39) |
D188G |
possibly damaging |
Het |
| Mmd |
T |
A |
11: 90,158,325 (GRCm39) |
|
probably null |
Het |
| Nav3 |
G |
A |
10: 109,603,153 (GRCm39) |
S1132L |
probably benign |
Het |
| Or1l4 |
C |
A |
2: 37,092,185 (GRCm39) |
H311N |
probably benign |
Het |
| Or4c101 |
C |
A |
2: 88,389,853 (GRCm39) |
N2K |
probably damaging |
Het |
| Or52ab7 |
C |
T |
7: 102,978,391 (GRCm39) |
R233C |
probably benign |
Het |
| Pcdh15 |
A |
G |
10: 74,152,957 (GRCm39) |
T421A |
probably benign |
Het |
| Pfkm |
G |
A |
15: 97,992,963 (GRCm39) |
R7H |
probably benign |
Het |
| Psme2b |
A |
G |
11: 48,836,443 (GRCm39) |
F168S |
probably damaging |
Het |
| Ptk2 |
G |
A |
15: 73,093,658 (GRCm39) |
P854S |
possibly damaging |
Het |
| Ptpn13 |
T |
C |
5: 103,649,752 (GRCm39) |
V385A |
probably benign |
Het |
| Reep5 |
G |
A |
18: 34,480,176 (GRCm39) |
T189I |
probably damaging |
Het |
| Sacm1l |
T |
A |
9: 123,399,062 (GRCm39) |
Y272N |
probably damaging |
Het |
| Slc26a6 |
T |
A |
9: 108,735,147 (GRCm39) |
H348Q |
probably damaging |
Het |
| Son |
CATGGACTCCCAGATGTTAGCAACCAGCAGTATGGACTCCCAGATGTTAGCAACCAGCAGTATGGACTCCCAGATGTTAGCAACCAG |
CATGGACTCCCAGATGTTAGCAACCAGCAGTATGGACTCCCAGATGTTAGCAACCAG |
16: 91,453,729 (GRCm39) |
|
probably benign |
Het |
| Spata31f1a |
T |
C |
4: 42,851,718 (GRCm39) |
E146G |
probably benign |
Het |
| Stkld1 |
A |
G |
2: 26,839,359 (GRCm39) |
I342V |
probably benign |
Het |
| Trim23 |
A |
T |
13: 104,323,801 (GRCm39) |
|
probably null |
Het |
| Trmt13 |
T |
C |
3: 116,376,480 (GRCm39) |
T304A |
probably benign |
Het |
| Tyw3 |
G |
C |
3: 154,299,426 (GRCm39) |
S94R |
probably benign |
Het |
| Ubqln3 |
A |
T |
7: 103,790,578 (GRCm39) |
I504K |
probably benign |
Het |
| Wdr93 |
T |
C |
7: 79,399,040 (GRCm39) |
M58T |
probably damaging |
Het |
| Wwc2 |
G |
A |
8: 48,300,580 (GRCm39) |
T961M |
unknown |
Het |
| Zfp35 |
C |
T |
18: 24,136,357 (GRCm39) |
H234Y |
possibly damaging |
Het |
| Zscan21 |
C |
T |
5: 138,124,728 (GRCm39) |
P215S |
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 |
|
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 |
|
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'- GCACACTTGGTCATGTTTTGC -3'
(R):5'- GGGGATTATGCTACTTAAACGTG -3'
Sequencing Primer
(F):5'- GCTTTATTTTGGCAAATTCTCTGAG -3'
(R):5'- GGATTATGCTACTTAAACGTGAACAG -3'
|
| Posted On |
2019-05-15 |
Incidental Mutation