Incidental Mutation 'IGL00925:Uhrf1'
ID |
29272 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Uhrf1
|
Ensembl Gene |
ENSMUSG00000001228 |
Gene Name |
ubiquitin-like, containing PHD and RING finger domains, 1 |
Synonyms |
Np95, ICBP90 |
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
IGL00925
|
Quality Score |
|
Status
|
|
Chromosome |
17 |
Chromosomal Location |
56610405-56630486 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 56627535 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glycine
at position 697
(D697G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000108662
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000001258]
[ENSMUST00000113035]
[ENSMUST00000113038]
[ENSMUST00000113039]
|
AlphaFold |
Q8VDF2 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000001258
AA Change: D697G
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000001258 Gene: ENSMUSG00000001228 AA Change: D697G
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: ENSMUST00000113035
AA Change: D689G
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000108658 Gene: ENSMUSG00000001228 AA Change: D689G
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: D689G
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000108661 Gene: ENSMUSG00000001228 AA Change: D689G
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: D697G
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000108662 Gene: ENSMUSG00000001228 AA Change: D697G
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: ENSMUST00000139654
|
Coding Region Coverage |
|
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: 26 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aoc1l2 |
T |
A |
6: 48,907,974 (GRCm39) |
Y325N |
probably damaging |
Het |
Atoh8 |
A |
G |
6: 72,211,553 (GRCm39) |
V199A |
probably benign |
Het |
Celf2 |
A |
T |
2: 6,726,388 (GRCm39) |
D6E |
probably benign |
Het |
Cep170 |
T |
C |
1: 176,621,090 (GRCm39) |
D29G |
probably damaging |
Het |
Cpb2 |
T |
C |
14: 75,498,190 (GRCm39) |
Y118H |
possibly damaging |
Het |
Esf1 |
A |
G |
2: 140,009,737 (GRCm39) |
S200P |
probably benign |
Het |
Glmn |
A |
T |
5: 107,705,193 (GRCm39) |
N474K |
probably damaging |
Het |
Maea |
T |
C |
5: 33,529,645 (GRCm39) |
V377A |
probably benign |
Het |
Npepps |
A |
G |
11: 97,171,109 (GRCm39) |
V59A |
probably damaging |
Het |
Ocrl |
A |
G |
X: 47,035,974 (GRCm39) |
E565G |
probably benign |
Het |
Or5al7 |
T |
C |
2: 85,993,264 (GRCm39) |
T10A |
probably benign |
Het |
Pclo |
T |
C |
5: 14,816,755 (GRCm39) |
S4544P |
unknown |
Het |
Per3 |
T |
C |
4: 151,098,055 (GRCm39) |
Y693C |
probably benign |
Het |
Prkacb |
G |
T |
3: 146,453,797 (GRCm39) |
P167H |
probably benign |
Het |
Ptprt |
A |
G |
2: 161,498,083 (GRCm39) |
S837P |
possibly damaging |
Het |
Sema7a |
G |
T |
9: 57,863,121 (GRCm39) |
C264F |
probably damaging |
Het |
Slitrk4 |
G |
T |
X: 63,315,657 (GRCm39) |
P337T |
probably damaging |
Het |
Tango6 |
T |
G |
8: 107,422,077 (GRCm39) |
|
probably benign |
Het |
Tecta |
T |
C |
9: 42,286,331 (GRCm39) |
D775G |
probably benign |
Het |
Tmem45a2 |
T |
A |
16: 56,865,618 (GRCm39) |
N189Y |
probably damaging |
Het |
Ttc8 |
A |
G |
12: 98,942,277 (GRCm39) |
N364S |
probably damaging |
Het |
Vmn1r185 |
G |
A |
7: 26,310,615 (GRCm39) |
L297F |
probably benign |
Het |
Vmn2r11 |
T |
C |
5: 109,194,885 (GRCm39) |
T814A |
probably benign |
Het |
Wdr36 |
A |
G |
18: 32,978,684 (GRCm39) |
T198A |
possibly damaging |
Het |
Zfhx2 |
G |
A |
14: 55,310,518 (GRCm39) |
P676L |
probably benign |
Het |
Zfp451 |
A |
G |
1: 33,815,342 (GRCm39) |
|
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 |
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 |
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 |
|
Posted On |
2013-04-17 |