Incidental Mutation 'R2329:Uhrf1'
ID |
245819 |
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 |
040320-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R2329 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
17 |
Chromosomal Location |
56610405-56630486 bp(+) (GRCm39) |
Type of Mutation |
splice site |
DNA Base Change (assembly) |
C to A
at 56617671 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000125830
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000001258]
[ENSMUST00000113035]
[ENSMUST00000113038]
[ENSMUST00000113039]
[ENSMUST00000142387]
|
AlphaFold |
Q8VDF2 |
Predicted Effect |
probably null
Transcript: ENSMUST00000001258
|
SMART Domains |
Protein: ENSMUSP00000001258 Gene: ENSMUSG00000001228
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 null
Transcript: ENSMUST00000113035
|
SMART Domains |
Protein: ENSMUSP00000108658 Gene: ENSMUSG00000001228
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 null
Transcript: ENSMUST00000113038
|
SMART Domains |
Protein: ENSMUSP00000108661 Gene: ENSMUSG00000001228
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 null
Transcript: ENSMUST00000113039
|
SMART Domains |
Protein: ENSMUSP00000108662 Gene: ENSMUSG00000001228
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 |
noncoding transcript
Transcript: ENSMUST00000137876
|
Predicted Effect |
probably null
Transcript: ENSMUST00000142387
|
SMART Domains |
Protein: ENSMUSP00000125830 Gene: ENSMUSG00000001228
Domain | Start | End | E-Value | Type |
UBQ
|
1 |
74 |
9.37e-10 |
SMART |
|
Meta Mutation Damage Score |
0.9755 |
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 94.8%
|
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: 37 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2210408I21Rik |
A |
C |
13: 77,451,444 (GRCm39) |
S843R |
probably benign |
Het |
Adamts15 |
G |
T |
9: 30,813,781 (GRCm39) |
R795S |
probably damaging |
Het |
Adora2a |
T |
A |
10: 75,162,017 (GRCm39) |
V52E |
probably damaging |
Het |
Amph |
T |
A |
13: 19,323,520 (GRCm39) |
L594Q |
probably benign |
Het |
Batf3 |
A |
T |
1: 190,840,646 (GRCm39) |
|
probably null |
Het |
Ccdc146 |
C |
T |
5: 21,513,610 (GRCm39) |
|
probably null |
Het |
Crygs |
C |
T |
16: 22,624,301 (GRCm39) |
G102D |
possibly damaging |
Het |
Csn3 |
A |
G |
5: 88,077,862 (GRCm39) |
T123A |
possibly damaging |
Het |
Cspg4 |
A |
G |
9: 56,795,834 (GRCm39) |
T1190A |
probably benign |
Het |
Dab2 |
C |
A |
15: 6,459,044 (GRCm39) |
Q298K |
possibly damaging |
Het |
Dpp6 |
T |
C |
5: 27,656,286 (GRCm39) |
|
probably null |
Het |
Efcab6 |
C |
T |
15: 83,834,249 (GRCm39) |
R453Q |
possibly damaging |
Het |
Ern2 |
C |
T |
7: 121,772,710 (GRCm39) |
M610I |
possibly damaging |
Het |
Fnip1 |
A |
G |
11: 54,356,933 (GRCm39) |
D38G |
probably damaging |
Het |
Fosb |
T |
C |
7: 19,041,110 (GRCm39) |
T128A |
probably benign |
Het |
Gad2 |
G |
A |
2: 22,558,301 (GRCm39) |
V340M |
probably damaging |
Het |
Gm19684 |
T |
A |
17: 36,439,345 (GRCm39) |
|
probably benign |
Het |
Gstk1 |
T |
A |
6: 42,223,848 (GRCm39) |
D86E |
possibly damaging |
Het |
Hus1 |
A |
G |
11: 8,957,492 (GRCm39) |
|
probably null |
Het |
Kbtbd8 |
T |
C |
6: 95,103,761 (GRCm39) |
I547T |
probably benign |
Het |
Mrpl38 |
T |
A |
11: 116,022,845 (GRCm39) |
H373L |
possibly damaging |
Het |
Nostrin |
A |
T |
2: 68,991,438 (GRCm39) |
T144S |
probably damaging |
Het |
Prl8a6 |
T |
C |
13: 27,621,050 (GRCm39) |
H60R |
probably benign |
Het |
Ros1 |
A |
G |
10: 52,038,983 (GRCm39) |
I329T |
probably damaging |
Het |
Scd2 |
T |
A |
19: 44,286,492 (GRCm39) |
Y107* |
probably null |
Het |
Setx |
GTGGCT |
GT |
2: 29,044,073 (GRCm39) |
1814 |
probably null |
Het |
Slc34a3 |
T |
C |
2: 25,119,422 (GRCm39) |
T483A |
possibly damaging |
Het |
Slc35c1 |
A |
T |
2: 92,289,040 (GRCm39) |
Y155* |
probably null |
Het |
Susd1 |
T |
C |
4: 59,379,715 (GRCm39) |
D304G |
possibly damaging |
Het |
Taf5 |
C |
T |
19: 47,063,563 (GRCm39) |
S371L |
probably benign |
Het |
Tenm4 |
A |
G |
7: 96,545,069 (GRCm39) |
T2362A |
probably benign |
Het |
Tsg101 |
A |
T |
7: 46,540,868 (GRCm39) |
D158E |
probably damaging |
Het |
Ttn |
G |
A |
2: 76,599,786 (GRCm39) |
P19102S |
probably damaging |
Het |
Ttn |
A |
G |
2: 76,608,412 (GRCm39) |
V17837A |
probably damaging |
Het |
Ulk4 |
C |
T |
9: 121,101,953 (GRCm39) |
E42K |
probably damaging |
Het |
Vmn1r184 |
A |
T |
7: 25,966,387 (GRCm39) |
L44F |
probably damaging |
Het |
Zfp932 |
A |
T |
5: 110,157,406 (GRCm39) |
H368L |
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 |
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 |
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'- TGTACAGAATAGTCCAGTCTCATCC -3'
(R):5'- AGGACTGATGGCACTCACTC -3'
Sequencing Primer
(F):5'- CATCCAGTGTCCATAGTGCTGAG -3'
(R):5'- GATGGCACTCACTCATCATACTTGAC -3'
|
Posted On |
2014-10-30 |