Incidental Mutation 'R9708:Uhrf1'
| ID |
729923 |
| 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 |
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R9708 (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 56629357 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 735
(D735G)
|
| 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 benign
Transcript: ENSMUST00000001258
AA Change: D735G
PolyPhen 2
Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)
|
| SMART Domains |
Protein: ENSMUSP00000001258
Gene: ENSMUSG00000001228
AA Change: D735G
| 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 benign
Transcript: ENSMUST00000113035
AA Change: D727G
PolyPhen 2
Score 0.024 (Sensitivity: 0.95; Specificity: 0.81)
|
| SMART Domains |
Protein: ENSMUSP00000108658
Gene: ENSMUSG00000001228
AA Change: D727G
| 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: D727G
PolyPhen 2
Score 0.024 (Sensitivity: 0.95; Specificity: 0.81)
|
| SMART Domains |
Protein: ENSMUSP00000108661
Gene: ENSMUSG00000001228
AA Change: D727G
| 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: ENSMUST00000113039
AA Change: D735G
PolyPhen 2
Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)
|
| SMART Domains |
Protein: ENSMUSP00000108662
Gene: ENSMUSG00000001228
AA Change: D735G
| 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: 99.9%
- 3x: 99.8%
- 10x: 99.1%
- 20x: 97.6%
|
| 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: 55 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc1 |
A |
T |
16: 14,254,417 (GRCm39) |
N576I |
probably damaging |
Het |
| Acss1 |
G |
T |
2: 150,471,752 (GRCm39) |
T334K |
probably damaging |
Het |
| Alox5 |
A |
G |
6: 116,392,537 (GRCm39) |
L328P |
probably damaging |
Het |
| Armc2 |
A |
T |
10: 41,839,744 (GRCm39) |
M407K |
possibly damaging |
Het |
| Asb3 |
A |
T |
11: 31,051,075 (GRCm39) |
I471F |
probably benign |
Het |
| Asph |
G |
A |
4: 9,542,233 (GRCm39) |
R335W |
probably damaging |
Het |
| B4galnt4 |
A |
G |
7: 140,647,657 (GRCm39) |
E415G |
probably benign |
Het |
| Btn2a2 |
G |
A |
13: 23,662,907 (GRCm39) |
P348S |
possibly damaging |
Het |
| Catsper2 |
A |
G |
2: 121,237,321 (GRCm39) |
V193A |
possibly damaging |
Het |
| Ccdc112 |
G |
A |
18: 46,444,780 (GRCm39) |
A33V |
probably benign |
Het |
| Cfap221 |
T |
A |
1: 119,860,619 (GRCm39) |
Y669F |
probably damaging |
Het |
| D030056L22Rik |
T |
G |
19: 18,690,776 (GRCm39) |
L30R |
possibly damaging |
Het |
| Fanca |
C |
A |
8: 124,001,263 (GRCm39) |
G1091* |
probably null |
Het |
| Foxl1 |
A |
G |
8: 121,855,077 (GRCm39) |
D126G |
possibly damaging |
Het |
| Gba1 |
T |
C |
3: 89,112,801 (GRCm39) |
S148P |
probably damaging |
Het |
| Gem |
G |
A |
4: 11,711,154 (GRCm39) |
R115H |
possibly damaging |
Het |
| Gm4924 |
T |
G |
10: 82,214,992 (GRCm39) |
L930R |
unknown |
Het |
| Iqgap3 |
C |
A |
3: 88,016,176 (GRCm39) |
F986L |
probably damaging |
Het |
| Irx5 |
A |
T |
8: 93,087,118 (GRCm39) |
D350V |
probably benign |
Het |
| Kng2 |
G |
T |
16: 22,815,801 (GRCm39) |
P365Q |
probably damaging |
Het |
| Lrp4 |
A |
T |
2: 91,342,076 (GRCm39) |
E1896D |
probably benign |
Het |
| Lrrk2 |
C |
A |
15: 91,634,482 (GRCm39) |
Y1415* |
probably null |
Het |
| Map2k7 |
C |
A |
8: 4,295,806 (GRCm39) |
H429N |
probably benign |
Het |
| Mogat1 |
T |
A |
1: 78,488,633 (GRCm39) |
L12Q |
probably damaging |
Het |
| Mov10 |
C |
T |
3: 104,704,613 (GRCm39) |
R766H |
probably benign |
Het |
| Mthfr |
G |
T |
4: 148,128,978 (GRCm39) |
E225* |
probably null |
Het |
| Mtmr11 |
T |
C |
3: 96,076,403 (GRCm39) |
F453L |
possibly damaging |
Het |
| Naip2 |
T |
C |
13: 100,298,087 (GRCm39) |
N650D |
probably damaging |
Het |
| Nek3 |
C |
T |
8: 22,618,742 (GRCm39) |
G497R |
unknown |
Het |
| Nol4 |
G |
T |
18: 22,828,053 (GRCm39) |
A337E |
probably damaging |
Het |
| Nrxn2 |
A |
G |
19: 6,581,882 (GRCm39) |
T1606A |
probably benign |
Het |
| Odad2 |
G |
T |
18: 7,288,633 (GRCm39) |
T78K |
probably benign |
Het |
| Or2ab1 |
G |
A |
11: 58,488,927 (GRCm39) |
R229H |
probably benign |
Het |
| Or4a71 |
T |
C |
2: 89,358,214 (GRCm39) |
N180S |
probably benign |
Het |
| Or5b124 |
G |
A |
19: 13,610,760 (GRCm39) |
C95Y |
probably damaging |
Het |
| Or5p6 |
T |
C |
7: 107,631,259 (GRCm39) |
Y97C |
probably benign |
Het |
| Paox |
C |
T |
7: 139,712,359 (GRCm39) |
R197* |
probably null |
Het |
| Pcdha8 |
A |
G |
18: 37,125,548 (GRCm39) |
D10G |
probably benign |
Het |
| Pde6h |
T |
G |
6: 136,936,359 (GRCm39) |
F34C |
probably damaging |
Het |
| Phkb |
T |
G |
8: 86,783,119 (GRCm39) |
S972A |
probably benign |
Het |
| Pik3c2g |
T |
A |
6: 139,606,865 (GRCm39) |
M304K |
probably benign |
Het |
| Rnf144b |
A |
G |
13: 47,397,912 (GRCm39) |
I281V |
probably damaging |
Het |
| Robo2 |
C |
T |
16: 73,770,197 (GRCm39) |
G509E |
possibly damaging |
Het |
| Sap30l |
A |
G |
11: 57,696,936 (GRCm39) |
R89G |
probably damaging |
Het |
| Scrn2 |
C |
T |
11: 96,922,928 (GRCm39) |
R124W |
probably damaging |
Het |
| Shcbp1l |
A |
T |
1: 153,328,011 (GRCm39) |
N574I |
probably damaging |
Het |
| Slfn8 |
T |
C |
11: 82,894,267 (GRCm39) |
I791V |
probably benign |
Het |
| Stard13 |
C |
T |
5: 150,986,961 (GRCm39) |
S183N |
possibly damaging |
Het |
| Tent5a |
A |
G |
9: 85,207,267 (GRCm39) |
M177T |
possibly damaging |
Het |
| Tpbg |
A |
G |
9: 85,726,574 (GRCm39) |
N181S |
probably benign |
Het |
| Tsc22d1 |
T |
A |
14: 76,654,664 (GRCm39) |
V381D |
possibly damaging |
Het |
| Vmn2r13 |
T |
A |
5: 109,322,007 (GRCm39) |
D230V |
probably benign |
Het |
| Vwf |
T |
A |
6: 125,634,053 (GRCm39) |
V2116E |
|
Het |
| Zfp616 |
G |
A |
11: 73,976,283 (GRCm39) |
G851S |
probably damaging |
Het |
| Zranb1 |
G |
T |
7: 132,584,600 (GRCm39) |
E623* |
probably null |
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 |
|
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 |
|
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 |
2022-10-06 |
Incidental Mutation