Incidental Mutation 'R2332:Uhrf1'
| ID |
246490 |
| 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 |
040322-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R2332 (G1)
|
| Quality Score |
225 |
|
Status
|
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: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 94.8%
|
| Validation Efficiency |
98% (47/48) |
| 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: 41 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Apc |
T |
C |
18: 34,450,112 (GRCm39) |
I2302T |
possibly damaging |
Het |
| Apoa4 |
G |
A |
9: 46,153,653 (GRCm39) |
V85I |
probably benign |
Het |
| Banf1 |
C |
T |
19: 5,415,058 (GRCm39) |
W84* |
probably null |
Het |
| Cdk13 |
A |
G |
13: 17,893,280 (GRCm39) |
L627P |
probably damaging |
Het |
| Cep250 |
A |
G |
2: 155,832,527 (GRCm39) |
E1483G |
probably damaging |
Het |
| Crygs |
C |
T |
16: 22,624,301 (GRCm39) |
G102D |
possibly damaging |
Het |
| Ddx60 |
A |
G |
8: 62,490,125 (GRCm39) |
E1698G |
probably benign |
Het |
| Depdc1a |
C |
A |
3: 159,229,503 (GRCm39) |
Q612K |
probably damaging |
Het |
| Dnaja2 |
G |
A |
8: 86,266,765 (GRCm39) |
R321C |
probably damaging |
Het |
| Fam186b |
T |
A |
15: 99,178,309 (GRCm39) |
E339V |
probably benign |
Het |
| Fga |
T |
C |
3: 82,938,704 (GRCm39) |
F360L |
probably damaging |
Het |
| Fut9 |
C |
T |
4: 25,619,823 (GRCm39) |
W330* |
probably null |
Het |
| Ghr |
T |
C |
15: 3,349,891 (GRCm39) |
N429S |
probably benign |
Het |
| Gm5444 |
A |
T |
13: 4,883,624 (GRCm39) |
|
noncoding transcript |
Het |
| Hjurp |
G |
C |
1: 88,204,937 (GRCm39) |
|
probably benign |
Het |
| Hoxa5 |
T |
C |
6: 52,179,659 (GRCm39) |
I239V |
probably damaging |
Het |
| Hps6 |
T |
C |
19: 45,992,930 (GRCm39) |
V289A |
possibly damaging |
Het |
| Iqcb1 |
A |
G |
16: 36,663,801 (GRCm39) |
N190D |
possibly damaging |
Het |
| Map3k13 |
G |
A |
16: 21,717,427 (GRCm39) |
|
probably null |
Het |
| Or10ag53 |
T |
C |
2: 87,083,217 (GRCm39) |
V312A |
possibly damaging |
Het |
| Or52d13 |
A |
G |
7: 103,110,293 (GRCm39) |
Y41H |
probably damaging |
Het |
| Pacsin1 |
A |
G |
17: 27,923,885 (GRCm39) |
E93G |
possibly damaging |
Het |
| Pds5a |
A |
G |
5: 65,784,422 (GRCm39) |
|
probably null |
Het |
| Ppp1r9b |
A |
T |
11: 94,887,435 (GRCm39) |
E482D |
probably damaging |
Het |
| Rhobtb3 |
A |
G |
13: 76,058,971 (GRCm39) |
S276P |
probably benign |
Het |
| Rimbp2 |
A |
G |
5: 128,866,705 (GRCm39) |
V538A |
probably benign |
Het |
| Rmdn3 |
A |
T |
2: 118,984,008 (GRCm39) |
|
probably benign |
Het |
| Setx |
GTGGCT |
GT |
2: 29,044,073 (GRCm39) |
1814 |
probably null |
Het |
| Sh3rf1 |
C |
T |
8: 61,679,321 (GRCm39) |
P121L |
probably benign |
Het |
| Slc4a11 |
A |
T |
2: 130,526,379 (GRCm39) |
V855D |
probably benign |
Het |
| Speer4f1 |
C |
A |
5: 17,684,522 (GRCm39) |
N183K |
probably damaging |
Het |
| Sstr4 |
A |
T |
2: 148,238,330 (GRCm39) |
N314Y |
probably damaging |
Het |
| Synj2 |
A |
G |
17: 6,074,069 (GRCm39) |
K288E |
probably damaging |
Het |
| Trhde |
T |
A |
10: 114,428,070 (GRCm39) |
N409Y |
probably damaging |
Het |
| Ttn |
A |
T |
2: 76,611,483 (GRCm39) |
W15604R |
probably damaging |
Het |
| Ugdh |
C |
T |
5: 65,584,827 (GRCm39) |
V32I |
possibly damaging |
Het |
| Vps13d |
G |
T |
4: 144,875,256 (GRCm39) |
D1750E |
probably benign |
Het |
| Wdfy3 |
A |
G |
5: 102,036,189 (GRCm39) |
|
probably benign |
Het |
| Wnt4 |
C |
A |
4: 137,023,831 (GRCm39) |
T266K |
probably benign |
Het |
| Wtap |
C |
T |
17: 13,186,425 (GRCm39) |
R374Q |
possibly damaging |
Het |
| Zfp322a |
A |
T |
13: 23,541,494 (GRCm39) |
C83S |
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 |
|
|
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'- AGAGCAGAGGTCTCTTGCAG -3'
(R):5'- GGCACTCACTCATCATACTTGAC -3'
Sequencing Primer
(F):5'- CATCCAGTGTCCATAGTGCTGAG -3'
(R):5'- CACTCATCATACTTGACATGGTAC -3'
|
| Posted On |
2014-10-30 |
Incidental Mutation