Incidental Mutation 'IGL02739:Uhrf1'
ID |
305814 |
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 # |
IGL02739
|
Quality Score |
|
Status
|
|
Chromosome |
17 |
Chromosomal Location |
56610405-56630486 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 56612129 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Lysine to Arginine
at position 11
(K11R)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000108662
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000001258]
[ENSMUST00000097303]
[ENSMUST00000113035]
[ENSMUST00000113038]
[ENSMUST00000113039]
[ENSMUST00000142387]
|
AlphaFold |
Q8VDF2 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000001258
AA Change: K11R
PolyPhen 2
Score 0.030 (Sensitivity: 0.95; Specificity: 0.82)
|
SMART Domains |
Protein: ENSMUSP00000001258 Gene: ENSMUSG00000001228 AA Change: K11R
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 benign
Transcript: ENSMUST00000113035
AA Change: K11R
PolyPhen 2
Score 0.030 (Sensitivity: 0.95; Specificity: 0.82)
|
SMART Domains |
Protein: ENSMUSP00000108658 Gene: ENSMUSG00000001228 AA Change: K11R
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: K11R
PolyPhen 2
Score 0.030 (Sensitivity: 0.95; Specificity: 0.82)
|
SMART Domains |
Protein: ENSMUSP00000108661 Gene: ENSMUSG00000001228 AA Change: K11R
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: K11R
PolyPhen 2
Score 0.030 (Sensitivity: 0.95; Specificity: 0.82)
|
SMART Domains |
Protein: ENSMUSP00000108662 Gene: ENSMUSG00000001228 AA Change: K11R
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: ENSMUST00000142387
AA Change: K11R
PolyPhen 2
Score 0.028 (Sensitivity: 0.95; Specificity: 0.81)
|
SMART Domains |
Protein: ENSMUSP00000125830 Gene: ENSMUSG00000001228 AA Change: K11R
Domain | Start | End | E-Value | Type |
UBQ
|
1 |
74 |
9.37e-10 |
SMART |
|
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: 40 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aasdh |
A |
T |
5: 77,026,364 (GRCm39) |
C887S |
possibly damaging |
Het |
Adamdec1 |
C |
A |
14: 68,807,605 (GRCm39) |
E352* |
probably null |
Het |
Bglap2 |
A |
T |
3: 88,285,319 (GRCm39) |
|
probably null |
Het |
Bsn |
A |
T |
9: 107,989,745 (GRCm39) |
H2002Q |
probably benign |
Het |
Chtop |
T |
A |
3: 90,409,557 (GRCm39) |
Q165L |
possibly damaging |
Het |
Clcn1 |
A |
T |
6: 42,263,714 (GRCm39) |
|
probably null |
Het |
Ctsr |
T |
C |
13: 61,309,658 (GRCm39) |
T184A |
probably benign |
Het |
Defb36 |
T |
C |
2: 152,446,439 (GRCm39) |
L11P |
unknown |
Het |
Dock8 |
A |
G |
19: 25,165,852 (GRCm39) |
E1912G |
probably damaging |
Het |
Dpp3 |
A |
G |
19: 4,973,756 (GRCm39) |
Y106H |
probably damaging |
Het |
Epas1 |
A |
G |
17: 87,112,710 (GRCm39) |
T103A |
probably damaging |
Het |
Epcam |
A |
T |
17: 87,947,922 (GRCm39) |
T131S |
probably benign |
Het |
Fam169a |
A |
G |
13: 97,230,563 (GRCm39) |
|
probably benign |
Het |
Gh |
T |
A |
11: 106,192,559 (GRCm39) |
|
probably benign |
Het |
Kif20a |
A |
T |
18: 34,761,996 (GRCm39) |
K399* |
probably null |
Het |
Lrp1b |
A |
G |
2: 41,388,227 (GRCm39) |
I466T |
probably damaging |
Het |
Nlk |
A |
G |
11: 78,465,677 (GRCm39) |
V409A |
probably benign |
Het |
Nomo1 |
A |
G |
7: 45,693,731 (GRCm39) |
|
probably null |
Het |
Nr2c1 |
T |
A |
10: 93,992,834 (GRCm39) |
M16K |
probably damaging |
Het |
Nxph2 |
A |
T |
2: 23,289,912 (GRCm39) |
Q88L |
probably benign |
Het |
Or51a39 |
A |
G |
7: 102,363,521 (GRCm39) |
I33T |
possibly damaging |
Het |
Pkdrej |
T |
A |
15: 85,703,895 (GRCm39) |
R680S |
probably benign |
Het |
Pkhd1l1 |
A |
T |
15: 44,404,346 (GRCm39) |
N2325I |
probably benign |
Het |
Pnliprp2 |
T |
C |
19: 58,748,941 (GRCm39) |
|
probably null |
Het |
Ppp1r42 |
T |
A |
1: 10,039,078 (GRCm39) |
K347N |
probably benign |
Het |
Prtg |
T |
C |
9: 72,758,867 (GRCm39) |
V407A |
possibly damaging |
Het |
Psmb8 |
C |
A |
17: 34,419,728 (GRCm39) |
S194* |
probably null |
Het |
Rnf214 |
T |
C |
9: 45,780,772 (GRCm39) |
I406V |
probably benign |
Het |
Rreb1 |
C |
T |
13: 38,077,797 (GRCm39) |
S3L |
probably damaging |
Het |
Sdad1 |
C |
T |
5: 92,437,931 (GRCm39) |
A539T |
probably benign |
Het |
Sema3a |
A |
G |
5: 13,501,128 (GRCm39) |
Y57C |
probably damaging |
Het |
Susd5 |
A |
G |
9: 113,925,101 (GRCm39) |
E328G |
possibly damaging |
Het |
Syngr3 |
T |
C |
17: 24,905,372 (GRCm39) |
T175A |
probably damaging |
Het |
Tcf20 |
T |
A |
15: 82,740,281 (GRCm39) |
Q390L |
probably damaging |
Het |
Tex15 |
A |
G |
8: 34,071,721 (GRCm39) |
T2423A |
possibly damaging |
Het |
Tlr1 |
T |
C |
5: 65,084,469 (GRCm39) |
N36S |
probably benign |
Het |
Uchl4 |
C |
T |
9: 64,142,819 (GRCm39) |
T100M |
probably damaging |
Het |
Vps13b |
T |
A |
15: 35,880,046 (GRCm39) |
D3040E |
probably damaging |
Het |
Wdr62 |
A |
T |
7: 29,941,885 (GRCm39) |
Y640* |
probably null |
Het |
Zkscan17 |
T |
G |
11: 59,394,352 (GRCm39) |
E83A |
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 |
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 |
2015-04-16 |