Incidental Mutation 'IGL00235:Uhrf2'
| ID |
2051 |
| 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 # |
IGL00235
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
19 |
| Chromosomal Location |
30007920-30071126 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 30051346 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Leucine
at position 307
(F307L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000025739
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000025739]
|
| AlphaFold |
Q7TMI3 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000025739
AA Change: F307L
PolyPhen 2
Score 0.032 (Sensitivity: 0.95; Specificity: 0.82)
|
| SMART Domains |
Protein: ENSMUSP00000025739
Gene: ENSMUSG00000024817
AA Change: F307L
| 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
|
| 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: 39 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adcy5 |
G |
A |
16: 35,073,583 (GRCm39) |
E454K |
possibly damaging |
Het |
| Agl |
T |
C |
3: 116,565,132 (GRCm39) |
H1039R |
probably benign |
Het |
| Akap3 |
T |
C |
6: 126,842,694 (GRCm39) |
F438L |
probably benign |
Het |
| Casp1 |
A |
T |
9: 5,299,872 (GRCm39) |
|
probably benign |
Het |
| Cnih2 |
G |
T |
19: 5,148,301 (GRCm39) |
|
probably benign |
Het |
| Dchs1 |
G |
A |
7: 105,407,950 (GRCm39) |
R1961C |
probably damaging |
Het |
| Defb21 |
G |
A |
2: 152,416,712 (GRCm39) |
V63I |
probably benign |
Het |
| Elovl6 |
T |
A |
3: 129,422,025 (GRCm39) |
N105K |
probably benign |
Het |
| Fam83e |
A |
T |
7: 45,376,493 (GRCm39) |
E402V |
probably benign |
Het |
| Fat4 |
T |
A |
3: 39,036,398 (GRCm39) |
I3350N |
probably damaging |
Het |
| Gmpr2 |
C |
A |
14: 55,913,171 (GRCm39) |
F149L |
probably damaging |
Het |
| Gucy1b2 |
C |
A |
14: 62,643,694 (GRCm39) |
V636F |
probably damaging |
Het |
| Hapln1 |
A |
C |
13: 89,756,261 (GRCm39) |
Y355S |
probably benign |
Het |
| Hoxb13 |
G |
T |
11: 96,085,468 (GRCm39) |
C67F |
possibly damaging |
Het |
| Hspa12b |
T |
A |
2: 130,976,040 (GRCm39) |
I14N |
probably damaging |
Het |
| Ighe |
C |
A |
12: 113,235,135 (GRCm39) |
V342L |
unknown |
Het |
| Ighv1-49 |
A |
T |
12: 115,019,076 (GRCm39) |
S21T |
possibly damaging |
Het |
| Klhl17 |
A |
G |
4: 156,318,319 (GRCm39) |
I101T |
possibly damaging |
Het |
| Lrrd1 |
T |
G |
5: 3,900,573 (GRCm39) |
L293V |
possibly damaging |
Het |
| Lyrm4 |
T |
A |
13: 36,276,865 (GRCm39) |
K44M |
probably damaging |
Het |
| Med15 |
G |
T |
16: 17,498,590 (GRCm39) |
P101T |
probably damaging |
Het |
| Mgat4c |
A |
T |
10: 102,224,581 (GRCm39) |
H265L |
probably damaging |
Het |
| Mme |
T |
A |
3: 63,247,465 (GRCm39) |
I250N |
possibly damaging |
Het |
| Mxra8 |
C |
A |
4: 155,927,020 (GRCm39) |
T318N |
probably benign |
Het |
| Nlrp9b |
G |
A |
7: 19,757,203 (GRCm39) |
V147I |
probably benign |
Het |
| Npepl1 |
G |
T |
2: 173,962,341 (GRCm39) |
V336L |
probably damaging |
Het |
| Or1e23 |
G |
A |
11: 73,407,236 (GRCm39) |
S263L |
possibly damaging |
Het |
| Pank2 |
T |
C |
2: 131,116,089 (GRCm39) |
I169T |
possibly damaging |
Het |
| Pgap6 |
T |
C |
17: 26,336,493 (GRCm39) |
S204P |
probably damaging |
Het |
| Pkhd1l1 |
A |
T |
15: 44,419,415 (GRCm39) |
H2960L |
probably damaging |
Het |
| Pnpla8 |
A |
G |
12: 44,329,852 (GRCm39) |
R135G |
probably benign |
Het |
| Prdm8 |
T |
G |
5: 98,331,202 (GRCm39) |
V18G |
probably damaging |
Het |
| Rhox7b |
G |
T |
X: 36,978,539 (GRCm39) |
P231T |
probably damaging |
Het |
| Rnf121 |
A |
T |
7: 101,714,322 (GRCm39) |
|
probably benign |
Het |
| Skap1 |
T |
C |
11: 96,380,736 (GRCm39) |
F45S |
probably damaging |
Het |
| Slc4a5 |
T |
A |
6: 83,262,881 (GRCm39) |
L791Q |
probably damaging |
Het |
| Ssh1 |
T |
C |
5: 114,080,637 (GRCm39) |
D931G |
probably damaging |
Het |
| Txndc16 |
T |
C |
14: 45,399,807 (GRCm39) |
Y382C |
probably damaging |
Het |
| Zfhx2 |
C |
A |
14: 55,300,714 (GRCm39) |
A2346S |
probably benign |
Het |
|
| Other mutations in Uhrf2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
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 |
|
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 |
2011-12-09 |
Incidental Mutation