Incidental Mutation 'R8540:Uhrf1'
| ID |
659388 |
| 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 |
068506-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R8540 (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 56612105 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Asparagine
at position 3
(I3N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000125830
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000001258]
[ENSMUST00000097303]
[ENSMUST00000113035]
[ENSMUST00000113038]
[ENSMUST00000113039]
[ENSMUST00000142387]
|
| AlphaFold |
Q8VDF2 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000001258
AA Change: I3N
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000001258
Gene: ENSMUSG00000001228
AA Change: I3N
| 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: ENSMUST00000097303
|
| SMART Domains |
Protein: ENSMUSP00000094906
Gene: ENSMUSG00000073380
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Arrestin_N
|
7 |
144 |
3.3e-21 |
PFAM |
|
Arrestin_C
|
170 |
307 |
7.47e-19 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000113035
AA Change: I3N
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000108658
Gene: ENSMUSG00000001228
AA Change: I3N
| 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: I3N
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000108661
Gene: ENSMUSG00000001228
AA Change: I3N
| 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: I3N
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000108662
Gene: ENSMUSG00000001228
AA Change: I3N
| 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 damaging
Transcript: ENSMUST00000142387
AA Change: I3N
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000125830
Gene: ENSMUSG00000001228
AA Change: I3N
| Domain | Start | End | E-Value | Type |
|---|
|
UBQ
|
1 |
74 |
9.37e-10 |
SMART |
|
| Meta Mutation Damage Score |
0.6714 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.1%
|
| Validation Efficiency |
100% (37/37) |
| 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: 39 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aebp2 |
A |
T |
6: 140,579,437 (GRCm39) |
I225L |
probably benign |
Het |
| Aebp2 |
A |
G |
6: 140,579,439 (GRCm39) |
I225M |
probably benign |
Het |
| Ap2a1 |
C |
A |
7: 44,553,750 (GRCm39) |
G566C |
probably damaging |
Het |
| Cdk15 |
T |
C |
1: 59,349,992 (GRCm39) |
V328A |
possibly damaging |
Het |
| Cyld |
G |
A |
8: 89,473,568 (GRCm39) |
G929D |
probably damaging |
Het |
| Ddx50 |
G |
A |
10: 62,476,569 (GRCm39) |
L235F |
possibly damaging |
Het |
| Dlg5 |
T |
C |
14: 24,208,767 (GRCm39) |
D813G |
probably damaging |
Het |
| Epb41l3 |
C |
T |
17: 69,593,757 (GRCm39) |
T797M |
probably damaging |
Het |
| Foxred2 |
G |
A |
15: 77,836,212 (GRCm39) |
R382W |
probably damaging |
Het |
| Gm5798 |
T |
A |
14: 41,070,674 (GRCm39) |
I28N |
possibly damaging |
Het |
| Grb14 |
C |
T |
2: 64,851,478 (GRCm39) |
V91M |
probably benign |
Het |
| Ints6 |
T |
C |
14: 62,934,353 (GRCm39) |
D718G |
probably benign |
Het |
| Man2a1 |
C |
A |
17: 64,965,982 (GRCm39) |
H307N |
probably benign |
Het |
| Mylk |
T |
C |
16: 34,750,257 (GRCm39) |
Y1199H |
possibly damaging |
Het |
| Nim1k |
T |
C |
13: 120,175,718 (GRCm39) |
S163G |
probably benign |
Het |
| Or1r1 |
A |
G |
11: 73,875,153 (GRCm39) |
F94L |
probably damaging |
Het |
| Or51f5 |
G |
C |
7: 102,424,339 (GRCm39) |
A203P |
possibly damaging |
Het |
| Or5ac16 |
A |
T |
16: 59,022,323 (GRCm39) |
H155Q |
possibly damaging |
Het |
| Or8h6 |
C |
A |
2: 86,703,776 (GRCm39) |
C97F |
probably damaging |
Het |
| Phyhip |
A |
G |
14: 70,704,594 (GRCm39) |
D271G |
probably benign |
Het |
| Pramel27 |
T |
A |
4: 143,579,496 (GRCm39) |
S360R |
probably benign |
Het |
| Pycr2 |
G |
A |
1: 180,734,178 (GRCm39) |
A187T |
possibly damaging |
Het |
| Ryr3 |
T |
A |
2: 112,630,367 (GRCm39) |
E2148V |
probably damaging |
Het |
| Septin12 |
T |
C |
16: 4,805,481 (GRCm39) |
H304R |
probably damaging |
Het |
| Sorbs1 |
G |
C |
19: 40,365,244 (GRCm39) |
R180G |
probably benign |
Het |
| Ssx2ip |
T |
C |
3: 146,124,114 (GRCm39) |
V43A |
probably benign |
Het |
| Syne2 |
A |
T |
12: 76,141,148 (GRCm39) |
N6087Y |
probably damaging |
Het |
| Tbc1d4 |
A |
T |
14: 101,845,712 (GRCm39) |
I62N |
probably damaging |
Het |
| Ttn |
C |
T |
2: 76,573,337 (GRCm39) |
G24106D |
probably damaging |
Het |
| Urgcp |
A |
C |
11: 5,667,915 (GRCm39) |
L141R |
probably damaging |
Het |
| Ush2a |
G |
A |
1: 188,274,858 (GRCm39) |
R1777H |
probably benign |
Het |
| Vamp3 |
A |
G |
4: 151,135,507 (GRCm39) |
V37A |
possibly damaging |
Het |
| Vmn1r172 |
C |
T |
7: 23,359,498 (GRCm39) |
L128F |
possibly damaging |
Het |
| Vmn1r76 |
A |
G |
7: 11,664,897 (GRCm39) |
Y71H |
probably damaging |
Het |
| Vmn2r111 |
C |
T |
17: 22,778,023 (GRCm39) |
|
probably null |
Het |
| Vmn2r111 |
T |
A |
17: 22,778,024 (GRCm39) |
N552Y |
probably damaging |
Het |
| Vmn2r81 |
A |
T |
10: 79,129,065 (GRCm39) |
N652I |
probably damaging |
Het |
| Vmn2r87 |
T |
C |
10: 130,314,762 (GRCm39) |
N275D |
possibly damaging |
Het |
| Wrn |
T |
A |
8: 33,842,154 (GRCm39) |
I47F |
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 |
|
R7875:Uhrf1
|
UTSW |
17 |
56,619,884 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
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'- GACTACAGGAGATTGATCGTGG -3'
(R):5'- AACTGACTGGCGACTTGAGG -3'
Sequencing Primer
(F):5'- GGGAGTTGCTTCCTTTGCTCAATC -3'
(R):5'- CGCGGGCCTATTGCTTG -3'
|
| Posted On |
2021-01-18 |
Incidental Mutation