Incidental Mutation 'IGL02168:Ubtf'
| ID |
282784 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Ubtf
|
| Ensembl Gene |
ENSMUSG00000020923 |
| Gene Name |
upstream binding transcription factor, RNA polymerase I |
| Synonyms |
UBF1, UBF, A930005G04Rik, Tcfubf |
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
IGL02168
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
11 |
| Chromosomal Location |
102195386-102210568 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 102204994 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Glutamic Acid
at position 97
(K97E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000136310
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000006754]
[ENSMUST00000079589]
[ENSMUST00000107115]
[ENSMUST00000107117]
[ENSMUST00000107119]
[ENSMUST00000107123]
[ENSMUST00000128016]
[ENSMUST00000174302]
[ENSMUST00000173870]
[ENSMUST00000178839]
[ENSMUST00000146896]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000006754
AA Change: K97E
PolyPhen 2
Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000006754
Gene: ENSMUSG00000020923
AA Change: K97E
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:SANT
|
18 |
78 |
6e-32 |
BLAST |
|
HMG
|
111 |
181 |
5.56e-20 |
SMART |
|
HMG
|
260 |
326 |
1.1e-14 |
SMART |
|
HMG
|
369 |
439 |
6.29e-19 |
SMART |
|
HMG
|
444 |
513 |
4.74e-5 |
SMART |
|
HMG
|
530 |
598 |
2.54e-14 |
SMART |
|
low complexity region
|
640 |
661 |
N/A |
INTRINSIC |
|
low complexity region
|
677 |
705 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000079589
AA Change: K97E
PolyPhen 2
Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000078539
Gene: ENSMUSG00000020923
AA Change: K97E
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:SANT
|
18 |
78 |
8e-32 |
BLAST |
|
HMG
|
111 |
181 |
5.56e-20 |
SMART |
|
HMG
|
195 |
265 |
1.95e-15 |
SMART |
|
HMG
|
297 |
363 |
1.1e-14 |
SMART |
|
HMG
|
406 |
476 |
6.29e-19 |
SMART |
|
HMG
|
481 |
550 |
4.74e-5 |
SMART |
|
HMG
|
567 |
635 |
2.54e-14 |
SMART |
|
low complexity region
|
675 |
763 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000107115
AA Change: K97E
PolyPhen 2
Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000102732
Gene: ENSMUSG00000020923
AA Change: K97E
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:SANT
|
18 |
78 |
8e-32 |
BLAST |
|
HMG
|
111 |
181 |
5.56e-20 |
SMART |
|
HMG
|
260 |
326 |
1.1e-14 |
SMART |
|
HMG
|
369 |
439 |
6.29e-19 |
SMART |
|
HMG
|
444 |
513 |
4.74e-5 |
SMART |
|
HMG
|
530 |
598 |
2.54e-14 |
SMART |
|
low complexity region
|
638 |
726 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000107117
AA Change: K97E
PolyPhen 2
Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000102734
Gene: ENSMUSG00000020923
AA Change: K97E
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:SANT
|
18 |
78 |
8e-32 |
BLAST |
|
HMG
|
111 |
181 |
5.56e-20 |
SMART |
|
HMG
|
260 |
326 |
1.1e-14 |
SMART |
|
HMG
|
369 |
439 |
6.29e-19 |
SMART |
|
HMG
|
444 |
513 |
4.74e-5 |
SMART |
|
HMG
|
530 |
598 |
2.54e-14 |
SMART |
|
low complexity region
|
638 |
726 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000107119
AA Change: K97E
PolyPhen 2
Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000102736
Gene: ENSMUSG00000020923
AA Change: K97E
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:SANT
|
18 |
78 |
8e-32 |
BLAST |
|
HMG
|
111 |
181 |
5.56e-20 |
SMART |
|
HMG
|
260 |
326 |
1.1e-14 |
SMART |
|
HMG
|
369 |
439 |
6.29e-19 |
SMART |
|
HMG
|
444 |
513 |
4.74e-5 |
SMART |
|
HMG
|
530 |
598 |
2.54e-14 |
SMART |
|
low complexity region
|
638 |
726 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000107123
AA Change: K97E
PolyPhen 2
Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000102740
Gene: ENSMUSG00000020923
AA Change: K97E
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:SANT
|
18 |
78 |
8e-32 |
BLAST |
|
HMG
|
111 |
181 |
5.56e-20 |
SMART |
|
HMG
|
195 |
265 |
1.95e-15 |
SMART |
|
HMG
|
297 |
363 |
1.1e-14 |
SMART |
|
HMG
|
406 |
476 |
6.29e-19 |
SMART |
|
HMG
|
481 |
550 |
4.74e-5 |
SMART |
|
HMG
|
567 |
635 |
2.54e-14 |
SMART |
|
low complexity region
|
675 |
763 |
N/A |
INTRINSIC |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000128016
AA Change: K97E
PolyPhen 2
Score 0.880 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000131930
Gene: ENSMUSG00000020923
AA Change: K97E
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:SANT
|
18 |
78 |
2e-34 |
BLAST |
|
HMG
|
111 |
169 |
1.15e-3 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000174302
AA Change: K97E
PolyPhen 2
Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000133844
Gene: ENSMUSG00000020923
AA Change: K97E
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:SANT
|
18 |
78 |
8e-32 |
BLAST |
|
HMG
|
111 |
181 |
5.56e-20 |
SMART |
|
HMG
|
195 |
265 |
1.95e-15 |
SMART |
|
HMG
|
297 |
363 |
1.1e-14 |
SMART |
|
HMG
|
406 |
476 |
6.29e-19 |
SMART |
|
HMG
|
481 |
550 |
4.74e-5 |
SMART |
|
HMG
|
567 |
635 |
2.54e-14 |
SMART |
|
low complexity region
|
675 |
763 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000173870
AA Change: K97E
PolyPhen 2
Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000133611
Gene: ENSMUSG00000020923
AA Change: K97E
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:SANT
|
18 |
78 |
8e-32 |
BLAST |
|
HMG
|
111 |
181 |
5.56e-20 |
SMART |
|
HMG
|
195 |
265 |
1.95e-15 |
SMART |
|
HMG
|
297 |
363 |
1.1e-14 |
SMART |
|
HMG
|
406 |
476 |
6.29e-19 |
SMART |
|
HMG
|
481 |
550 |
4.74e-5 |
SMART |
|
HMG
|
567 |
635 |
2.54e-14 |
SMART |
|
low complexity region
|
675 |
763 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000178839
AA Change: K97E
PolyPhen 2
Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000136310
Gene: ENSMUSG00000020923
AA Change: K97E
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:SANT
|
18 |
78 |
8e-32 |
BLAST |
|
HMG
|
111 |
181 |
5.56e-20 |
SMART |
|
HMG
|
260 |
326 |
1.1e-14 |
SMART |
|
HMG
|
369 |
439 |
6.29e-19 |
SMART |
|
HMG
|
444 |
513 |
4.74e-5 |
SMART |
|
HMG
|
530 |
598 |
2.54e-14 |
SMART |
|
low complexity region
|
638 |
726 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000174400
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000174726
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000146896
|
| SMART Domains |
Protein: ENSMUSP00000134665
Gene: ENSMUSG00000020923
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:SANT
|
18 |
78 |
1e-34 |
BLAST |
|
HMG
|
83 |
151 |
2.09e-15 |
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 the HMG-box DNA-binding protein family. The encoded protein plays a critical role in ribosomal RNA transcription as a key component of the pre-initiation complex, mediating the recruitment of RNA polymerase I to rDNA promoter regions. The encoded protein may also play important roles in chromatin remodeling and pre-rRNA processing, and its activity is regulated by both phosphorylation and acetylation. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. Pseudogenes of this gene are located on the short arm of chromosomes 3, 11 and X and the long arm of chromosome 11. [provided by RefSeq, Aug 2011]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit embryonic lethality before implantation with embryonic growth arrest. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 29 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2010007H06Rik |
T |
C |
9: 51,191,801 (GRCm39) |
|
probably benign |
Het |
| 6030468B19Rik |
T |
A |
11: 117,689,244 (GRCm39) |
|
probably benign |
Het |
| Ankra2 |
G |
A |
13: 98,409,882 (GRCm39) |
|
probably benign |
Het |
| Astn1 |
C |
A |
1: 158,436,911 (GRCm39) |
A823E |
possibly damaging |
Het |
| Cfap43 |
T |
C |
19: 47,740,362 (GRCm39) |
|
probably benign |
Het |
| Clec4b2 |
T |
A |
6: 123,181,156 (GRCm39) |
N180K |
probably damaging |
Het |
| Col7a1 |
A |
G |
9: 108,813,143 (GRCm39) |
|
probably benign |
Het |
| Dhrs7c |
T |
C |
11: 67,706,693 (GRCm39) |
F284L |
probably benign |
Het |
| Dock1 |
T |
C |
7: 134,678,860 (GRCm39) |
|
probably benign |
Het |
| Entpd5 |
A |
T |
12: 84,433,752 (GRCm39) |
|
probably null |
Het |
| Heatr5b |
A |
T |
17: 79,139,020 (GRCm39) |
|
probably benign |
Het |
| Kdm3a |
A |
G |
6: 71,577,101 (GRCm39) |
V738A |
probably damaging |
Het |
| Klf10 |
A |
T |
15: 38,297,085 (GRCm39) |
F318L |
probably damaging |
Het |
| Mcc |
A |
C |
18: 44,582,366 (GRCm39) |
I770S |
probably damaging |
Het |
| Muc19 |
C |
T |
15: 91,778,292 (GRCm39) |
|
noncoding transcript |
Het |
| Or9a4 |
A |
T |
6: 40,548,317 (GRCm39) |
|
probably benign |
Het |
| Pcdh17 |
A |
G |
14: 84,770,635 (GRCm39) |
T1038A |
probably benign |
Het |
| Pole2 |
A |
G |
12: 69,248,660 (GRCm39) |
|
probably benign |
Het |
| Polr2c |
A |
G |
8: 95,584,394 (GRCm39) |
R36G |
probably damaging |
Het |
| Ptgs2 |
A |
G |
1: 149,979,430 (GRCm39) |
|
probably null |
Het |
| Scart1 |
A |
T |
7: 139,803,399 (GRCm39) |
H321L |
probably benign |
Het |
| Taf5 |
A |
G |
19: 47,070,917 (GRCm39) |
D747G |
probably damaging |
Het |
| Tll1 |
T |
G |
8: 64,507,001 (GRCm39) |
K580T |
possibly damaging |
Het |
| Tmc3 |
A |
T |
7: 83,269,203 (GRCm39) |
N768I |
possibly damaging |
Het |
| Top1 |
G |
T |
2: 160,546,893 (GRCm39) |
|
probably null |
Het |
| Vcl |
T |
C |
14: 21,057,355 (GRCm39) |
V509A |
probably benign |
Het |
| Vmn2r110 |
A |
T |
17: 20,804,062 (GRCm39) |
|
probably benign |
Het |
| Zfp106 |
A |
G |
2: 120,364,712 (GRCm39) |
V565A |
possibly damaging |
Het |
| Zfp458 |
A |
T |
13: 67,406,098 (GRCm39) |
C111S |
probably damaging |
Het |
|
| Other mutations in Ubtf |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01066:Ubtf
|
APN |
11 |
102,199,710 (GRCm39) |
splice site |
probably benign |
|
|
IGL02218:Ubtf
|
APN |
11 |
102,197,526 (GRCm39) |
nonsense |
probably null |
|
|
FR4304:Ubtf
|
UTSW |
11 |
102,197,784 (GRCm39) |
small insertion |
probably benign |
|
|
FR4304:Ubtf
|
UTSW |
11 |
102,197,782 (GRCm39) |
small insertion |
probably benign |
|
|
FR4340:Ubtf
|
UTSW |
11 |
102,197,776 (GRCm39) |
small insertion |
probably benign |
|
|
FR4342:Ubtf
|
UTSW |
11 |
102,197,785 (GRCm39) |
small insertion |
probably benign |
|
|
FR4342:Ubtf
|
UTSW |
11 |
102,197,782 (GRCm39) |
small insertion |
probably benign |
|
|
FR4449:Ubtf
|
UTSW |
11 |
102,197,774 (GRCm39) |
nonsense |
probably null |
|
|
FR4548:Ubtf
|
UTSW |
11 |
102,197,784 (GRCm39) |
small insertion |
probably benign |
|
|
FR4589:Ubtf
|
UTSW |
11 |
102,197,771 (GRCm39) |
small insertion |
probably benign |
|
|
FR4589:Ubtf
|
UTSW |
11 |
102,197,769 (GRCm39) |
small insertion |
probably benign |
|
|
FR4737:Ubtf
|
UTSW |
11 |
102,197,776 (GRCm39) |
small insertion |
probably benign |
|
|
FR4737:Ubtf
|
UTSW |
11 |
102,197,774 (GRCm39) |
nonsense |
probably null |
|
|
FR4976:Ubtf
|
UTSW |
11 |
102,197,785 (GRCm39) |
small insertion |
probably benign |
|
|
PIT4504001:Ubtf
|
UTSW |
11 |
102,197,508 (GRCm39) |
missense |
unknown |
|
|
R0919:Ubtf
|
UTSW |
11 |
102,200,603 (GRCm39) |
splice site |
probably benign |
|
|
R1023:Ubtf
|
UTSW |
11 |
102,202,276 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R1641:Ubtf
|
UTSW |
11 |
102,201,757 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1678:Ubtf
|
UTSW |
11 |
102,199,804 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1780:Ubtf
|
UTSW |
11 |
102,205,744 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2406:Ubtf
|
UTSW |
11 |
102,199,528 (GRCm39) |
nonsense |
probably null |
|
|
R4574:Ubtf
|
UTSW |
11 |
102,197,591 (GRCm39) |
unclassified |
probably benign |
|
|
R4986:Ubtf
|
UTSW |
11 |
102,205,000 (GRCm39) |
missense |
probably benign |
0.03 |
|
R5057:Ubtf
|
UTSW |
11 |
102,197,913 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R5217:Ubtf
|
UTSW |
11 |
102,199,128 (GRCm39) |
missense |
probably null |
0.91 |
|
R5221:Ubtf
|
UTSW |
11 |
102,198,816 (GRCm39) |
nonsense |
probably null |
|
|
R5532:Ubtf
|
UTSW |
11 |
102,199,785 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5634:Ubtf
|
UTSW |
11 |
102,201,150 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6185:Ubtf
|
UTSW |
11 |
102,204,849 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7028:Ubtf
|
UTSW |
11 |
102,205,806 (GRCm39) |
missense |
probably benign |
0.03 |
|
R7450:Ubtf
|
UTSW |
11 |
102,197,475 (GRCm39) |
missense |
unknown |
|
|
R7596:Ubtf
|
UTSW |
11 |
102,197,533 (GRCm39) |
missense |
unknown |
|
|
R7601:Ubtf
|
UTSW |
11 |
102,197,480 (GRCm39) |
missense |
unknown |
|
|
R8376:Ubtf
|
UTSW |
11 |
102,199,737 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8934:Ubtf
|
UTSW |
11 |
102,204,855 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R8947:Ubtf
|
UTSW |
11 |
102,205,802 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
R9102:Ubtf
|
UTSW |
11 |
102,201,015 (GRCm39) |
critical splice donor site |
probably null |
|
|
R9395:Ubtf
|
UTSW |
11 |
102,205,026 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9701:Ubtf
|
UTSW |
11 |
102,199,718 (GRCm39) |
critical splice donor site |
probably null |
|
|
RF027:Ubtf
|
UTSW |
11 |
102,197,771 (GRCm39) |
small insertion |
probably benign |
|
|
RF036:Ubtf
|
UTSW |
11 |
102,197,771 (GRCm39) |
small insertion |
probably benign |
|
|
RF041:Ubtf
|
UTSW |
11 |
102,197,771 (GRCm39) |
small insertion |
probably benign |
|
|
| Posted On |
2015-04-16 |
Incidental Mutation