Incidental Mutation 'R8731:Uhrf1'
| ID |
662774 |
| 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 |
068579-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R8731 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
17 |
| Chromosomal Location |
56610405-56630486 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 56629363 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Glutamine
at position 737
(L737Q)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000001258
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000001258]
[ENSMUST00000025036]
[ENSMUST00000086835]
[ENSMUST00000113035]
[ENSMUST00000113038]
[ENSMUST00000113039]
[ENSMUST00000139679]
|
| 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 |
probably damaging
Transcript: ENSMUST00000001258
AA Change: L737Q
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000001258
Gene: ENSMUSG00000001228
AA Change: L737Q
| 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: ENSMUST00000025036
|
| SMART Domains |
Protein: ENSMUSP00000025036
Gene: ENSMUSG00000024201
| Domain | Start | End | E-Value | Type |
|---|
|
JmjN
|
14 |
56 |
5.88e-17 |
SMART |
|
low complexity region
|
61 |
68 |
N/A |
INTRINSIC |
|
JmjC
|
143 |
309 |
1.19e-59 |
SMART |
|
low complexity region
|
349 |
361 |
N/A |
INTRINSIC |
|
low complexity region
|
380 |
399 |
N/A |
INTRINSIC |
|
low complexity region
|
443 |
449 |
N/A |
INTRINSIC |
|
low complexity region
|
481 |
495 |
N/A |
INTRINSIC |
|
low complexity region
|
511 |
537 |
N/A |
INTRINSIC |
|
PHD
|
719 |
777 |
2.5e-5 |
SMART |
|
PHD
|
839 |
895 |
7.07e-5 |
SMART |
|
TUDOR
|
905 |
962 |
1.68e-9 |
SMART |
|
TUDOR
|
963 |
1019 |
7.94e-11 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000086835
|
| SMART Domains |
Protein: ENSMUSP00000084045
Gene: ENSMUSG00000024201
| Domain | Start | End | E-Value | Type |
|---|
|
JmjN
|
14 |
56 |
5.88e-17 |
SMART |
|
low complexity region
|
61 |
68 |
N/A |
INTRINSIC |
|
JmjC
|
143 |
309 |
1.19e-59 |
SMART |
|
low complexity region
|
349 |
361 |
N/A |
INTRINSIC |
|
low complexity region
|
380 |
399 |
N/A |
INTRINSIC |
|
low complexity region
|
443 |
449 |
N/A |
INTRINSIC |
|
low complexity region
|
481 |
495 |
N/A |
INTRINSIC |
|
low complexity region
|
511 |
537 |
N/A |
INTRINSIC |
|
PHD
|
712 |
770 |
2.5e-5 |
SMART |
|
PHD
|
832 |
888 |
7.07e-5 |
SMART |
|
TUDOR
|
898 |
954 |
2.31e-12 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000113035
AA Change: L729Q
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000108658
Gene: ENSMUSG00000001228
AA Change: L729Q
| 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 damaging
Transcript: ENSMUST00000113038
AA Change: L729Q
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000108661
Gene: ENSMUSG00000001228
AA Change: L729Q
| 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 damaging
Transcript: ENSMUST00000113039
AA Change: L737Q
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000108662
Gene: ENSMUSG00000001228
AA Change: L737Q
| 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: ENSMUST00000139679
|
| SMART Domains |
Protein: ENSMUSP00000118089
Gene: ENSMUSG00000024201
| Domain | Start | End | E-Value | Type |
|---|
|
JmjN
|
14 |
56 |
5.88e-17 |
SMART |
|
low complexity region
|
61 |
68 |
N/A |
INTRINSIC |
|
Pfam:JmjC
|
176 |
208 |
5.8e-13 |
PFAM |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.1%
- 20x: 95.9%
|
| Validation Efficiency |
100% (48/48) |
| 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: 45 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aadacl2 |
A |
T |
3: 59,932,367 (GRCm39) |
D294V |
probably benign |
Het |
| Abcc8 |
T |
G |
7: 45,803,986 (GRCm39) |
Y396S |
probably damaging |
Het |
| Ace |
T |
A |
11: 105,861,426 (GRCm39) |
F192I |
possibly damaging |
Het |
| Apeh |
A |
G |
9: 107,964,422 (GRCm39) |
S494P |
probably benign |
Het |
| Bod1 |
A |
G |
11: 31,619,242 (GRCm39) |
|
probably null |
Het |
| Cap2 |
T |
C |
13: 46,800,006 (GRCm39) |
M404T |
probably benign |
Het |
| Cc2d2a |
A |
T |
5: 43,892,788 (GRCm39) |
D1450V |
probably damaging |
Het |
| Cdk5rap2 |
A |
T |
4: 70,163,747 (GRCm39) |
|
probably benign |
Het |
| Clip1 |
A |
C |
5: 123,752,756 (GRCm39) |
S342A |
|
Het |
| Cox10 |
A |
G |
11: 63,855,045 (GRCm39) |
F412S |
probably damaging |
Het |
| Cracr2a |
T |
G |
6: 127,602,890 (GRCm39) |
|
probably null |
Het |
| Dcaf7 |
T |
A |
11: 105,945,548 (GRCm39) |
M299K |
possibly damaging |
Het |
| Dffb |
T |
C |
4: 154,059,101 (GRCm39) |
T59A |
possibly damaging |
Het |
| Dgkd |
A |
G |
1: 87,844,535 (GRCm39) |
M234V |
possibly damaging |
Het |
| Disp1 |
A |
T |
1: 182,869,072 (GRCm39) |
V1116E |
possibly damaging |
Het |
| Dpysl3 |
C |
T |
18: 43,571,157 (GRCm39) |
C39Y |
probably damaging |
Het |
| Dync1h1 |
T |
A |
12: 110,607,018 (GRCm39) |
V2565D |
possibly damaging |
Het |
| Fam227b |
A |
T |
2: 125,968,898 (GRCm39) |
Y59N |
possibly damaging |
Het |
| Gm21680 |
A |
T |
5: 26,173,230 (GRCm39) |
V210D |
probably damaging |
Het |
| Gm57858 |
A |
T |
3: 36,089,434 (GRCm39) |
N163K |
probably benign |
Het |
| Gnas |
T |
C |
2: 174,126,699 (GRCm39) |
V78A |
probably benign |
Het |
| Gpr179 |
T |
C |
11: 97,234,555 (GRCm39) |
T509A |
probably damaging |
Het |
| Igfn1 |
A |
G |
1: 135,925,574 (GRCm39) |
M60T |
probably benign |
Het |
| Llgl2 |
A |
G |
11: 115,742,016 (GRCm39) |
Q686R |
probably benign |
Het |
| Myl10 |
G |
C |
5: 136,726,825 (GRCm39) |
V70L |
probably benign |
Het |
| Mylk3 |
T |
G |
8: 86,085,634 (GRCm39) |
E300A |
probably benign |
Het |
| Myo1b |
A |
C |
1: 51,799,570 (GRCm39) |
|
probably benign |
Het |
| Myo9b |
T |
C |
8: 71,806,486 (GRCm39) |
|
probably null |
Het |
| Nalcn |
T |
C |
14: 123,837,266 (GRCm39) |
I33V |
probably benign |
Het |
| Nsl1 |
A |
G |
1: 190,814,609 (GRCm39) |
Y270C |
probably damaging |
Het |
| Or5af1 |
C |
T |
11: 58,722,268 (GRCm39) |
A96V |
probably benign |
Het |
| Otulin |
A |
G |
15: 27,608,928 (GRCm39) |
M205T |
probably benign |
Het |
| Plch1 |
A |
T |
3: 63,605,059 (GRCm39) |
V1615E |
probably benign |
Het |
| Rab9 |
C |
T |
X: 165,240,754 (GRCm39) |
D186N |
probably benign |
Het |
| Repin1 |
G |
T |
6: 48,574,279 (GRCm39) |
E403* |
probably null |
Het |
| Scn3a |
A |
T |
2: 65,298,507 (GRCm39) |
Y1397* |
probably null |
Het |
| Scrib |
A |
T |
15: 75,935,488 (GRCm39) |
H549Q |
probably benign |
Het |
| Slc36a4 |
A |
G |
9: 15,631,048 (GRCm39) |
I56V |
possibly damaging |
Het |
| Spata7 |
T |
A |
12: 98,624,541 (GRCm39) |
S148T |
probably damaging |
Het |
| Stk31 |
T |
A |
6: 49,415,435 (GRCm39) |
L590Q |
probably benign |
Het |
| Tanc1 |
T |
C |
2: 59,673,596 (GRCm39) |
V1567A |
probably benign |
Het |
| Tspan33 |
T |
C |
6: 29,717,310 (GRCm39) |
F237S |
probably damaging |
Het |
| Vmn2r2 |
A |
G |
3: 64,024,404 (GRCm39) |
F726L |
probably benign |
Het |
| Vmn2r65 |
A |
T |
7: 84,589,447 (GRCm39) |
L823* |
probably null |
Het |
| Vps11 |
T |
C |
9: 44,265,756 (GRCm39) |
N508D |
probably benign |
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 |
|
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'- TTACTGCGATGGGAGCATGG -3'
(R):5'- GAAGTTGGAACCATGAGCCCTC -3'
Sequencing Primer
(F):5'- AGCATGGCTTGGAACCAC -3'
(R):5'- AACCATGAGCCCTCTGCCTG -3'
|
| Posted On |
2021-03-08 |
Incidental Mutation