Incidental Mutation 'R9349:Uhrf1'
ID |
707980 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Uhrf1
|
Ensembl Gene |
ENSMUSG00000001228 |
Gene Name |
ubiquitin-like, containing PHD and RING finger domains, 1 |
Synonyms |
Np95, ICBP90 |
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R9349 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
17 |
Chromosomal Location |
56610405-56630486 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 56617737 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Alanine
at position 153
(V153A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000001258
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000001258]
[ENSMUST00000113035]
[ENSMUST00000113038]
[ENSMUST00000113039]
[ENSMUST00000142387]
|
AlphaFold |
Q8VDF2 |
PDB Structure |
Crystal structure of the SRA domain of mouse Np95 in complex with hemi-methylated CpG DNA [X-RAY DIFFRACTION]
Crystal structure of the SRA domain of mouse Np95 in complex with hemi-methylated CpG DNA [X-RAY DIFFRACTION]
Crystal structure of the SRA domain of mouse Np95 in complex with hemi-methylated CpG DNA [X-RAY DIFFRACTION]
Crystal structure of unliganded SRA domain of mouse Np95 [X-RAY DIFFRACTION]
mouse NP95 SRA domain DNA specific complex 1 [X-RAY DIFFRACTION]
Mouse NP95 SRA domain DNA specific complex 2 [X-RAY DIFFRACTION]
Mouse NP95 SRA domain non-specific DNA complex [X-RAY DIFFRACTION]
Mouse UHRF1 SRA domain bound with hemi-methylated CpG, crystal structure in space group P21 [X-RAY DIFFRACTION]
Mouse UHRF1 SRA domain bound with hemi-methylated CpG, crystal structure in space group C222(1) [X-RAY DIFFRACTION]
Mouse UHRF1 SRA domain bound with hemi-methylated CpG DNA, crystal structure in space group C222(1) at 1.4 A resolution [X-RAY DIFFRACTION]
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000001258
AA Change: V153A
PolyPhen 2
Score 0.946 (Sensitivity: 0.80; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000001258 Gene: ENSMUSG00000001228 AA Change: V153A
Domain | Start | End | E-Value | Type |
UBQ
|
1 |
74 |
9.37e-10 |
SMART |
Pfam:DUF3590
|
136 |
232 |
1.1e-42 |
PFAM |
PHD
|
322 |
369 |
6.39e-12 |
SMART |
RING
|
323 |
368 |
1.09e0 |
SMART |
low complexity region
|
381 |
398 |
N/A |
INTRINSIC |
SRA
|
419 |
590 |
8.5e-113 |
SMART |
low complexity region
|
635 |
653 |
N/A |
INTRINSIC |
RING
|
713 |
751 |
8.43e-3 |
SMART |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000113035
AA Change: V153A
PolyPhen 2
Score 0.933 (Sensitivity: 0.80; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000108658 Gene: ENSMUSG00000001228 AA Change: V153A
Domain | Start | End | E-Value | Type |
UBQ
|
1 |
74 |
9.37e-10 |
SMART |
Pfam:DUF3590
|
136 |
232 |
1.1e-42 |
PFAM |
PHD
|
314 |
361 |
6.39e-12 |
SMART |
RING
|
315 |
360 |
1.09e0 |
SMART |
low complexity region
|
373 |
390 |
N/A |
INTRINSIC |
SRA
|
411 |
582 |
8.5e-113 |
SMART |
low complexity region
|
627 |
645 |
N/A |
INTRINSIC |
RING
|
705 |
743 |
8.43e-3 |
SMART |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000113038
AA Change: V153A
PolyPhen 2
Score 0.933 (Sensitivity: 0.80; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000108661 Gene: ENSMUSG00000001228 AA Change: V153A
Domain | Start | End | E-Value | Type |
UBQ
|
1 |
74 |
9.37e-10 |
SMART |
Pfam:DUF3590
|
136 |
232 |
1.1e-42 |
PFAM |
PHD
|
314 |
361 |
6.39e-12 |
SMART |
RING
|
315 |
360 |
1.09e0 |
SMART |
low complexity region
|
373 |
390 |
N/A |
INTRINSIC |
SRA
|
411 |
582 |
8.5e-113 |
SMART |
low complexity region
|
627 |
645 |
N/A |
INTRINSIC |
RING
|
705 |
743 |
8.43e-3 |
SMART |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000113039
AA Change: V153A
PolyPhen 2
Score 0.946 (Sensitivity: 0.80; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000108662 Gene: ENSMUSG00000001228 AA Change: V153A
Domain | Start | End | E-Value | Type |
UBQ
|
1 |
74 |
9.37e-10 |
SMART |
Pfam:TTD
|
128 |
281 |
8e-61 |
PFAM |
PHD
|
322 |
369 |
6.39e-12 |
SMART |
RING
|
323 |
368 |
1.09e0 |
SMART |
low complexity region
|
381 |
398 |
N/A |
INTRINSIC |
SRA
|
419 |
590 |
8.5e-113 |
SMART |
low complexity region
|
635 |
653 |
N/A |
INTRINSIC |
RING
|
713 |
751 |
8.43e-3 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000142387
|
SMART Domains |
Protein: ENSMUSP00000125830 Gene: ENSMUSG00000001228
Domain | Start | End | E-Value | Type |
UBQ
|
1 |
74 |
9.37e-10 |
SMART |
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 98.9%
|
Validation Efficiency |
|
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of a subfamily of RING-finger type E3 ubiquitin ligases. The protein binds to specific DNA sequences, and recruits a histone deacetylase to regulate gene expression. Its expression peaks at late G1 phase and continues during G2 and M phases of the cell cycle. It plays a major role in the G1/S transition by regulating topoisomerase IIalpha and retinoblastoma gene expression, and functions in the p53-dependent DNA damage checkpoint. It is regarded as a hub protein for the integration of epigenetic information. This gene is up-regulated in various cancers, and it is therefore considered to be a therapeutic target. Multiple transcript variants encoding different isoforms have been found for this gene. A related pseudogene exists on chromosome 12. [provided by RefSeq, Feb 2014] PHENOTYPE: Mice homozygous for disruption of this marker die early in gestation showing growth retardation and various malformations. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 38 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
A230072I06Rik |
A |
G |
8: 12,329,665 (GRCm39) |
Q40R |
unknown |
Het |
A730015C16Rik |
C |
T |
4: 108,705,053 (GRCm39) |
V89I |
unknown |
Het |
Adam19 |
G |
T |
11: 46,022,570 (GRCm39) |
E508* |
probably null |
Het |
Arhgef33 |
C |
T |
17: 80,644,736 (GRCm39) |
Q22* |
probably null |
Het |
Arih2 |
C |
G |
9: 108,488,938 (GRCm39) |
R260P |
probably damaging |
Het |
Astn2 |
T |
A |
4: 66,184,492 (GRCm39) |
T202S |
unknown |
Het |
Bpifb5 |
T |
A |
2: 154,067,005 (GRCm39) |
L86Q |
possibly damaging |
Het |
Brpf3 |
G |
A |
17: 29,040,276 (GRCm39) |
S899N |
probably benign |
Het |
Ccl20 |
T |
C |
1: 83,095,586 (GRCm39) |
F49S |
|
Het |
Ctse |
A |
G |
1: 131,592,111 (GRCm39) |
T146A |
probably benign |
Het |
Dhx35 |
T |
C |
2: 158,671,444 (GRCm39) |
S292P |
possibly damaging |
Het |
Fut7 |
C |
T |
2: 25,314,993 (GRCm39) |
P84S |
possibly damaging |
Het |
Gm9736 |
A |
C |
10: 77,586,393 (GRCm39) |
S266A |
unknown |
Het |
Gsdma |
T |
A |
11: 98,566,771 (GRCm39) |
L366Q |
probably benign |
Het |
Ifna15 |
T |
A |
4: 88,476,283 (GRCm39) |
D67V |
probably benign |
Het |
Igkv2-112 |
G |
A |
6: 68,197,678 (GRCm39) |
V117I |
probably benign |
Het |
Kcnh2 |
C |
T |
5: 24,538,003 (GRCm39) |
G120E |
probably damaging |
Het |
Kcnip1 |
T |
G |
11: 33,601,548 (GRCm39) |
Y29S |
probably benign |
Het |
Lrrc37a |
T |
G |
11: 103,388,454 (GRCm39) |
M2324L |
unknown |
Het |
Mettl5 |
T |
A |
2: 69,702,113 (GRCm39) |
D185V |
possibly damaging |
Het |
Mmp1b |
T |
A |
9: 7,369,271 (GRCm39) |
M359L |
probably benign |
Het |
Ndufa5 |
G |
A |
6: 24,522,749 (GRCm39) |
T31I |
probably benign |
Het |
Ngly1 |
T |
A |
14: 16,281,801 (GRCm38) |
C352* |
probably null |
Het |
Or14c45 |
A |
G |
7: 86,176,373 (GRCm39) |
H136R |
probably benign |
Het |
Or51a39 |
A |
T |
7: 102,362,875 (GRCm39) |
C248* |
probably null |
Het |
Pcdhac1 |
C |
T |
18: 37,224,021 (GRCm39) |
A278V |
possibly damaging |
Het |
Ppp2r3c |
T |
A |
12: 55,345,268 (GRCm39) |
K73N |
probably benign |
Het |
Rasgrf1 |
T |
C |
9: 89,884,460 (GRCm39) |
V975A |
probably damaging |
Het |
Rps27rt |
C |
T |
9: 114,811,673 (GRCm39) |
V35M |
probably benign |
Het |
Slc22a8 |
A |
G |
19: 8,571,469 (GRCm39) |
N67D |
probably benign |
Het |
Slc39a6 |
C |
A |
18: 24,718,493 (GRCm39) |
M521I |
probably benign |
Het |
Snx31 |
C |
T |
15: 36,555,430 (GRCm39) |
S39N |
probably damaging |
Het |
Speer1b |
C |
T |
5: 11,823,221 (GRCm39) |
T130I |
possibly damaging |
Het |
Sv2a |
T |
C |
3: 96,096,795 (GRCm39) |
|
probably null |
Het |
Thg1l |
G |
A |
11: 45,846,273 (GRCm39) |
A7V |
probably benign |
Het |
Ttc39c |
C |
T |
18: 12,822,932 (GRCm39) |
Q147* |
probably null |
Het |
Ube2u |
A |
G |
4: 100,407,194 (GRCm39) |
N352D |
unknown |
Het |
Wdfy4 |
A |
G |
14: 32,875,996 (GRCm39) |
S143P |
|
Het |
|
Other mutations in Uhrf1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00560:Uhrf1
|
APN |
17 |
56,625,125 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL00925:Uhrf1
|
APN |
17 |
56,627,535 (GRCm39) |
missense |
probably benign |
0.00 |
IGL01432:Uhrf1
|
APN |
17 |
56,625,250 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02739:Uhrf1
|
APN |
17 |
56,612,129 (GRCm39) |
missense |
probably benign |
0.03 |
R0667:Uhrf1
|
UTSW |
17 |
56,617,677 (GRCm39) |
missense |
probably benign |
0.01 |
R0685:Uhrf1
|
UTSW |
17 |
56,617,742 (GRCm39) |
missense |
probably damaging |
0.99 |
R1121:Uhrf1
|
UTSW |
17 |
56,619,917 (GRCm39) |
missense |
probably benign |
|
R1462:Uhrf1
|
UTSW |
17 |
56,625,035 (GRCm39) |
missense |
probably damaging |
1.00 |
R1462:Uhrf1
|
UTSW |
17 |
56,625,035 (GRCm39) |
missense |
probably damaging |
1.00 |
R2088:Uhrf1
|
UTSW |
17 |
56,625,089 (GRCm39) |
missense |
probably damaging |
1.00 |
R2329:Uhrf1
|
UTSW |
17 |
56,617,671 (GRCm39) |
splice site |
probably null |
|
R2331:Uhrf1
|
UTSW |
17 |
56,617,671 (GRCm39) |
splice site |
probably null |
|
R2332:Uhrf1
|
UTSW |
17 |
56,617,671 (GRCm39) |
splice site |
probably null |
|
R3624:Uhrf1
|
UTSW |
17 |
56,624,023 (GRCm39) |
missense |
probably damaging |
1.00 |
R4065:Uhrf1
|
UTSW |
17 |
56,625,020 (GRCm39) |
missense |
probably damaging |
1.00 |
R4882:Uhrf1
|
UTSW |
17 |
56,616,401 (GRCm39) |
missense |
probably damaging |
1.00 |
R4901:Uhrf1
|
UTSW |
17 |
56,617,834 (GRCm39) |
missense |
probably benign |
0.01 |
R4913:Uhrf1
|
UTSW |
17 |
56,622,478 (GRCm39) |
missense |
probably damaging |
0.99 |
R5061:Uhrf1
|
UTSW |
17 |
56,627,542 (GRCm39) |
splice site |
probably null |
|
R5186:Uhrf1
|
UTSW |
17 |
56,625,340 (GRCm39) |
missense |
probably damaging |
1.00 |
R5711:Uhrf1
|
UTSW |
17 |
56,627,259 (GRCm39) |
missense |
possibly damaging |
0.49 |
R6917:Uhrf1
|
UTSW |
17 |
56,616,574 (GRCm39) |
missense |
probably damaging |
1.00 |
R7021:Uhrf1
|
UTSW |
17 |
56,627,450 (GRCm39) |
missense |
probably benign |
0.04 |
R7241:Uhrf1
|
UTSW |
17 |
56,622,193 (GRCm39) |
missense |
probably damaging |
1.00 |
R7692:Uhrf1
|
UTSW |
17 |
56,619,905 (GRCm39) |
missense |
possibly damaging |
0.91 |
R7875:Uhrf1
|
UTSW |
17 |
56,619,884 (GRCm39) |
missense |
possibly damaging |
0.46 |
R8540:Uhrf1
|
UTSW |
17 |
56,612,105 (GRCm39) |
missense |
probably damaging |
1.00 |
R8731:Uhrf1
|
UTSW |
17 |
56,629,363 (GRCm39) |
missense |
probably damaging |
1.00 |
R8897:Uhrf1
|
UTSW |
17 |
56,617,817 (GRCm39) |
missense |
probably damaging |
1.00 |
R9681:Uhrf1
|
UTSW |
17 |
56,625,083 (GRCm39) |
missense |
possibly damaging |
0.51 |
R9708:Uhrf1
|
UTSW |
17 |
56,629,357 (GRCm39) |
missense |
probably benign |
0.01 |
R9723:Uhrf1
|
UTSW |
17 |
56,625,061 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Predicted Primers |
PCR Primer
(F):5'- TAGTGCTGAGCTTTGCTGCC -3'
(R):5'- CCTTTGTCTAAACAGGGCAATG -3'
Sequencing Primer
(F):5'- AGCTTTGCTGCCAGGTAGGAC -3'
(R):5'- TTTGTCTAAACAGGGCAATGAGGATG -3'
|
Posted On |
2022-04-18 |