Incidental Mutation 'R3624:Uhrf1'
| ID |
269356 |
| 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 |
040678-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R3624 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
17 |
| Chromosomal Location |
56610405-56630486 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 56624023 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Isoleucine
at position 482
(T482I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000108662
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000001258]
[ENSMUST00000113035]
[ENSMUST00000113038]
[ENSMUST00000113039]
|
| AlphaFold |
Q8VDF2 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000001258
AA Change: T482I
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000001258
Gene: ENSMUSG00000001228
AA Change: T482I
| 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 damaging
Transcript: ENSMUST00000113035
AA Change: T474I
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000108658
Gene: ENSMUSG00000001228
AA Change: T474I
| 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: T474I
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000108661
Gene: ENSMUSG00000001228
AA Change: T474I
| 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: T482I
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000108662
Gene: ENSMUSG00000001228
AA Change: T482I
| 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 |
noncoding transcript
Transcript: ENSMUST00000139654
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.1%
|
| 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: 57 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adcy1 |
A |
G |
11: 7,080,348 (GRCm39) |
T364A |
probably benign |
Het |
| Adcy2 |
T |
C |
13: 68,790,650 (GRCm39) |
T905A |
probably damaging |
Het |
| Akap9 |
C |
A |
5: 4,026,235 (GRCm39) |
Q1297K |
possibly damaging |
Het |
| Ankrd53 |
A |
G |
6: 83,740,244 (GRCm39) |
E104G |
possibly damaging |
Het |
| Anks1 |
T |
C |
17: 28,205,262 (GRCm39) |
F274L |
probably damaging |
Het |
| Btaf1 |
A |
G |
19: 36,958,486 (GRCm39) |
T668A |
probably benign |
Het |
| Coch |
A |
G |
12: 51,649,609 (GRCm39) |
I307V |
probably benign |
Het |
| Colec11 |
T |
C |
12: 28,644,907 (GRCm39) |
M196V |
probably benign |
Het |
| Cyp2c54 |
A |
G |
19: 40,058,688 (GRCm39) |
I248T |
probably benign |
Het |
| D17H6S53E |
A |
G |
17: 35,346,512 (GRCm39) |
E141G |
probably benign |
Het |
| Dffb |
T |
C |
4: 154,049,976 (GRCm39) |
T296A |
probably damaging |
Het |
| Dock8 |
A |
G |
19: 25,057,241 (GRCm39) |
Q216R |
probably benign |
Het |
| Elp1 |
C |
T |
4: 56,798,708 (GRCm39) |
V85M |
possibly damaging |
Het |
| Emilin3 |
T |
C |
2: 160,750,177 (GRCm39) |
D477G |
possibly damaging |
Het |
| Esp4 |
A |
G |
17: 40,913,484 (GRCm39) |
K117R |
unknown |
Het |
| Fam186b |
A |
G |
15: 99,178,396 (GRCm39) |
L310S |
probably benign |
Het |
| Fpr-rs4 |
CAGGAA |
CA |
17: 18,242,596 (GRCm39) |
|
probably null |
Het |
| H2-T3 |
T |
C |
17: 36,500,957 (GRCm39) |
T20A |
possibly damaging |
Het |
| Htr1d |
T |
C |
4: 136,170,815 (GRCm39) |
I348T |
probably damaging |
Het |
| Hyal4 |
A |
T |
6: 24,765,737 (GRCm39) |
S364C |
probably damaging |
Het |
| Igkv1-133 |
A |
T |
6: 67,701,944 (GRCm39) |
Q16L |
probably benign |
Het |
| Irs2 |
C |
T |
8: 11,057,643 (GRCm39) |
G263D |
probably damaging |
Het |
| Itih3 |
A |
G |
14: 30,636,700 (GRCm39) |
Y38H |
probably damaging |
Het |
| Kif21a |
A |
G |
15: 90,849,798 (GRCm39) |
V35A |
probably damaging |
Het |
| Klhl14 |
A |
T |
18: 21,690,953 (GRCm39) |
V499D |
probably damaging |
Het |
| Kmt2d |
T |
C |
15: 98,740,783 (GRCm39) |
|
probably benign |
Het |
| Loxl4 |
A |
G |
19: 42,596,015 (GRCm39) |
V146A |
probably benign |
Het |
| Met |
A |
T |
6: 17,549,085 (GRCm39) |
D979V |
probably damaging |
Het |
| Mga |
A |
G |
2: 119,772,245 (GRCm39) |
T1702A |
probably damaging |
Het |
| Midn |
A |
G |
10: 79,986,144 (GRCm39) |
D78G |
probably benign |
Het |
| Mlh3 |
C |
T |
12: 85,315,169 (GRCm39) |
C339Y |
probably damaging |
Het |
| Mog |
T |
C |
17: 37,323,338 (GRCm39) |
H200R |
possibly damaging |
Het |
| Nadk2 |
T |
A |
15: 9,084,303 (GRCm39) |
W139R |
probably damaging |
Het |
| Nsd3 |
A |
G |
8: 26,152,835 (GRCm39) |
T392A |
probably damaging |
Het |
| Pbld2 |
T |
C |
10: 62,897,470 (GRCm39) |
L57P |
probably damaging |
Het |
| Racgap1 |
T |
A |
15: 99,540,772 (GRCm39) |
N26I |
probably damaging |
Het |
| Rsf1 |
ATGGCG |
ATGGCGACGGTGGCG |
7: 97,229,111 (GRCm39) |
|
probably benign |
Het |
| Rspry1 |
A |
G |
8: 95,376,405 (GRCm39) |
D309G |
probably damaging |
Het |
| Sgcz |
T |
C |
8: 38,420,201 (GRCm39) |
E17G |
probably damaging |
Het |
| Slc16a10 |
A |
G |
10: 40,017,890 (GRCm39) |
V48A |
probably benign |
Het |
| Smad1 |
A |
G |
8: 80,066,327 (GRCm39) |
V450A |
probably benign |
Het |
| Smad9 |
C |
T |
3: 54,696,705 (GRCm39) |
R257W |
probably damaging |
Het |
| Snrpb |
C |
A |
2: 130,017,299 (GRCm39) |
R73L |
probably null |
Het |
| Spag11a |
A |
G |
8: 19,209,417 (GRCm39) |
D69G |
probably benign |
Het |
| Sptbn1 |
T |
C |
11: 30,090,593 (GRCm39) |
H559R |
probably damaging |
Het |
| Strn3 |
T |
C |
12: 51,707,999 (GRCm39) |
Y132C |
possibly damaging |
Het |
| Tasor2 |
T |
C |
13: 3,645,556 (GRCm39) |
T98A |
probably benign |
Het |
| Tgm6 |
T |
A |
2: 129,993,681 (GRCm39) |
V640E |
possibly damaging |
Het |
| Trim54 |
G |
A |
5: 31,294,320 (GRCm39) |
V319M |
possibly damaging |
Het |
| Trpm1 |
A |
G |
7: 63,894,601 (GRCm39) |
Y951C |
probably damaging |
Het |
| Ube3a |
T |
A |
7: 58,921,860 (GRCm39) |
N77K |
probably damaging |
Het |
| Veph1 |
C |
T |
3: 66,122,858 (GRCm39) |
V224I |
probably benign |
Het |
| Vmn1r30 |
A |
T |
6: 58,412,437 (GRCm39) |
F132I |
probably benign |
Het |
| Vmn1r88 |
A |
C |
7: 12,911,790 (GRCm39) |
M49L |
probably benign |
Het |
| Vmn2r24 |
A |
G |
6: 123,792,997 (GRCm39) |
R775G |
probably damaging |
Het |
| Zfp60 |
T |
A |
7: 27,448,753 (GRCm39) |
F474I |
probably benign |
Het |
| Zkscan8 |
C |
T |
13: 21,704,946 (GRCm39) |
R259Q |
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 |
|
|
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'- AGTCTCACTGCCTCCTTAGG -3'
(R):5'- CTCTGGGCAAGAGTTAATAGGAACC -3'
Sequencing Primer
(F):5'- TGGAACTCACTCTGTAGACCAGG -3'
(R):5'- GAGTTAATAGGAACCTATGTCCCCTC -3'
|
| Posted On |
2015-02-19 |
Incidental Mutation