Incidental Mutation 'R7875:Uhrf1'
| ID |
608410 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Uhrf1
|
| Ensembl Gene |
ENSMUSG00000001228 |
| Gene Name |
ubiquitin-like, containing PHD and RING finger domains, 1 |
| Synonyms |
Np95, ICBP90 |
| MMRRC Submission |
045927-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R7875 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
17 |
| Chromosomal Location |
56610405-56630486 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 56619884 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Serine
at position 265
(N265S)
|
| 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: N265S
PolyPhen 2
Score 0.456 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000001258
Gene: ENSMUSG00000001228
AA Change: N265S
| 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 |
probably benign
Transcript: ENSMUST00000113035
AA Change: N265S
PolyPhen 2
Score 0.401 (Sensitivity: 0.89; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000108658
Gene: ENSMUSG00000001228
AA Change: N265S
| 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 |
probably benign
Transcript: ENSMUST00000113038
AA Change: N265S
PolyPhen 2
Score 0.401 (Sensitivity: 0.89; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000108661
Gene: ENSMUSG00000001228
AA Change: N265S
| 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: N265S
PolyPhen 2
Score 0.456 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000108662
Gene: ENSMUSG00000001228
AA Change: N265S
| 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: 100.0%
- 10x: 99.7%
- 20x: 99.2%
|
| 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: 57 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acap2 |
A |
T |
16: 30,958,459 (GRCm39) |
F102I |
probably damaging |
Het |
| Acp7 |
A |
T |
7: 28,314,152 (GRCm39) |
Y348N |
probably damaging |
Het |
| Adgre4 |
A |
T |
17: 56,099,016 (GRCm39) |
D174V |
probably benign |
Het |
| Ahdc1 |
A |
G |
4: 132,791,161 (GRCm39) |
T801A |
possibly damaging |
Het |
| Aldh1a7 |
A |
C |
19: 20,693,343 (GRCm39) |
V192G |
possibly damaging |
Het |
| Anp32b |
T |
G |
4: 46,451,301 (GRCm39) |
D2E |
probably benign |
Het |
| Arhgef11 |
A |
T |
3: 87,591,808 (GRCm39) |
D53V |
probably damaging |
Het |
| Arid5b |
T |
C |
10: 67,964,771 (GRCm39) |
N300S |
probably benign |
Het |
| Ascc2 |
A |
G |
11: 4,618,389 (GRCm39) |
N328S |
probably benign |
Het |
| Aspm |
A |
T |
1: 139,382,872 (GRCm39) |
Q68L |
probably benign |
Het |
| Ccng2 |
C |
G |
5: 93,421,202 (GRCm39) |
S237R |
probably benign |
Het |
| Ccser1 |
A |
T |
6: 61,288,932 (GRCm39) |
H365L |
probably benign |
Het |
| Col1a2 |
T |
A |
6: 4,518,500 (GRCm39) |
N213K |
unknown |
Het |
| Col7a1 |
T |
C |
9: 108,787,763 (GRCm39) |
V681A |
unknown |
Het |
| Cplane1 |
A |
G |
15: 8,239,446 (GRCm39) |
I1216V |
probably benign |
Het |
| Dock9 |
A |
T |
14: 121,863,396 (GRCm39) |
Y792* |
probably null |
Het |
| Fam241b |
A |
T |
10: 61,970,271 (GRCm39) |
S10R |
|
Het |
| Gab1 |
C |
T |
8: 81,515,395 (GRCm39) |
D308N |
probably damaging |
Het |
| Gdf11 |
C |
T |
10: 128,722,210 (GRCm39) |
R215H |
probably benign |
Het |
| Gpc1 |
T |
C |
1: 92,782,970 (GRCm39) |
|
probably null |
Het |
| Hnf4a |
G |
T |
2: 163,400,980 (GRCm39) |
E200* |
probably null |
Het |
| Ints2 |
T |
C |
11: 86,103,888 (GRCm39) |
T1086A |
probably damaging |
Het |
| Kbtbd7 |
A |
G |
14: 79,664,806 (GRCm39) |
T213A |
probably benign |
Het |
| Kcnt2 |
A |
G |
1: 140,501,385 (GRCm39) |
D917G |
probably damaging |
Het |
| Kdm5a |
C |
A |
6: 120,375,979 (GRCm39) |
Y578* |
probably null |
Het |
| Lrrtm4 |
A |
T |
6: 79,999,343 (GRCm39) |
T252S |
possibly damaging |
Het |
| Mamdc4 |
C |
T |
2: 25,458,677 (GRCm39) |
W305* |
probably null |
Het |
| Mzb1 |
A |
G |
18: 35,780,913 (GRCm39) |
I125T |
possibly damaging |
Het |
| Nfrkb |
A |
G |
9: 31,321,450 (GRCm39) |
T716A |
possibly damaging |
Het |
| Or2ad1 |
T |
A |
13: 21,327,093 (GRCm39) |
I45F |
probably damaging |
Het |
| Or4f6 |
A |
G |
2: 111,839,192 (GRCm39) |
V113A |
probably benign |
Het |
| Or52r1b |
A |
G |
7: 102,691,060 (GRCm39) |
M120V |
probably damaging |
Het |
| Or8k16 |
G |
A |
2: 85,519,838 (GRCm39) |
E22K |
probably benign |
Het |
| Plcxd2 |
G |
A |
16: 45,830,065 (GRCm39) |
A52V |
possibly damaging |
Het |
| Poteg |
C |
T |
8: 27,939,942 (GRCm39) |
P95L |
probably benign |
Het |
| Prdm9 |
A |
T |
17: 15,773,804 (GRCm39) |
Y322* |
probably null |
Het |
| Rab11fip2 |
G |
C |
19: 59,925,655 (GRCm39) |
I187M |
possibly damaging |
Het |
| Ranbp2 |
G |
T |
10: 58,314,277 (GRCm39) |
E1666* |
probably null |
Het |
| Rin3 |
T |
C |
12: 102,335,735 (GRCm39) |
S549P |
probably damaging |
Het |
| Scn10a |
C |
T |
9: 119,464,508 (GRCm39) |
|
probably null |
Het |
| Scn3a |
A |
G |
2: 65,327,826 (GRCm39) |
F888S |
probably damaging |
Het |
| Sik3 |
T |
A |
9: 46,034,528 (GRCm39) |
I96N |
probably damaging |
Het |
| Slc12a7 |
T |
A |
13: 73,936,723 (GRCm39) |
C128S |
possibly damaging |
Het |
| Spata31h1 |
T |
C |
10: 82,123,456 (GRCm39) |
S3185G |
possibly damaging |
Het |
| Syde2 |
A |
G |
3: 145,726,020 (GRCm39) |
E1304G |
probably damaging |
Het |
| Tagln |
T |
C |
9: 45,841,680 (GRCm39) |
I199V |
probably damaging |
Het |
| Tars3 |
T |
A |
7: 65,327,899 (GRCm39) |
V536E |
probably benign |
Het |
| Tas2r140 |
A |
G |
6: 40,469,097 (GRCm39) |
K309R |
probably damaging |
Het |
| Thra |
A |
T |
11: 98,659,257 (GRCm39) |
D462V |
probably damaging |
Het |
| Topaz1 |
A |
G |
9: 122,578,652 (GRCm39) |
T521A |
possibly damaging |
Het |
| Upk3b |
A |
T |
5: 136,069,057 (GRCm39) |
Y142F |
probably benign |
Het |
| Vmn1r219 |
T |
C |
13: 23,347,363 (GRCm39) |
V184A |
possibly damaging |
Het |
| Vmn1r58 |
T |
C |
7: 5,413,753 (GRCm39) |
D159G |
probably damaging |
Het |
| Vnn3 |
C |
A |
10: 23,743,146 (GRCm39) |
A452D |
possibly damaging |
Het |
| Wscd1 |
T |
A |
11: 71,679,560 (GRCm39) |
Y478N |
probably damaging |
Het |
| Xrcc5 |
C |
T |
1: 72,369,090 (GRCm39) |
R315C |
probably damaging |
Het |
| Zkscan5 |
A |
C |
5: 145,157,676 (GRCm39) |
H726P |
probably damaging |
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 |
|
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 |
|
R9349:Uhrf1
|
UTSW |
17 |
56,617,737 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
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'- CTTGCCAGATGTAGGCAGAAATTG -3'
(R):5'- CATCATCCTTGCAGAACCGG -3'
Sequencing Primer
(F):5'- TGTAGGCAGAAATTGAGGCTAGAC -3'
(R):5'- CTTGCAGAACCGGCAGGATG -3'
|
| Posted On |
2019-12-20 |
Incidental Mutation