Incidental Mutation 'R1023:Ubtf'
| ID |
94655 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ubtf
|
| Ensembl Gene |
ENSMUSG00000020923 |
| Gene Name |
upstream binding transcription factor, RNA polymerase I |
| Synonyms |
UBF1, UBF, A930005G04Rik, Tcfubf |
| MMRRC Submission |
039125-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R1023 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
102195386-102210568 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 102202276 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 197
(E197G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000136310
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000006754]
[ENSMUST00000079589]
[ENSMUST00000107115]
[ENSMUST00000107117]
[ENSMUST00000107119]
[ENSMUST00000107123]
[ENSMUST00000128016]
[ENSMUST00000173870]
[ENSMUST00000174302]
[ENSMUST00000178839]
[ENSMUST00000146896]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000006754
AA Change: E197G
PolyPhen 2
Score 0.928 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000006754
Gene: ENSMUSG00000020923
AA Change: E197G
| 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 |
possibly damaging
Transcript: ENSMUST00000079589
AA Change: E197G
PolyPhen 2
Score 0.901 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000078539
Gene: ENSMUSG00000020923
AA Change: E197G
| 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: ENSMUST00000107115
AA Change: E197G
PolyPhen 2
Score 0.928 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000102732
Gene: ENSMUSG00000020923
AA Change: E197G
| 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 |
possibly damaging
Transcript: ENSMUST00000107117
AA Change: E197G
PolyPhen 2
Score 0.928 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000102734
Gene: ENSMUSG00000020923
AA Change: E197G
| 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 |
possibly damaging
Transcript: ENSMUST00000107119
AA Change: E197G
PolyPhen 2
Score 0.928 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000102736
Gene: ENSMUSG00000020923
AA Change: E197G
| 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 |
possibly damaging
Transcript: ENSMUST00000107123
AA Change: E197G
PolyPhen 2
Score 0.901 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000102740
Gene: ENSMUSG00000020923
AA Change: E197G
| 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 benign
Transcript: ENSMUST00000128016
|
| SMART Domains |
Protein: ENSMUSP00000131930
Gene: ENSMUSG00000020923
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:SANT
|
18 |
78 |
2e-34 |
BLAST |
|
HMG
|
111 |
169 |
1.15e-3 |
SMART |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000173870
AA Change: E197G
PolyPhen 2
Score 0.901 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000133611
Gene: ENSMUSG00000020923
AA Change: E197G
| 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: ENSMUST00000174302
AA Change: E197G
PolyPhen 2
Score 0.901 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000133844
Gene: ENSMUSG00000020923
AA Change: E197G
| 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: ENSMUST00000178839
AA Change: E197G
PolyPhen 2
Score 0.928 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000136310
Gene: ENSMUSG00000020923
AA Change: E197G
| 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: ENSMUST00000174726
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000174400
|
| 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 |
|
| Meta Mutation Damage Score |
0.2163 |
| Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.0%
- 10x: 95.6%
- 20x: 90.7%
|
| Validation Efficiency |
100% (42/42) |
| 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: 40 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1110002E22Rik |
C |
T |
3: 137,772,632 (GRCm39) |
A607V |
probably damaging |
Het |
| 4930523C07Rik |
A |
G |
1: 159,905,057 (GRCm39) |
|
probably benign |
Het |
| Ap3d1 |
A |
T |
10: 80,550,092 (GRCm39) |
L713Q |
probably damaging |
Het |
| Baz2a |
A |
G |
10: 127,957,676 (GRCm39) |
T1010A |
possibly damaging |
Het |
| Cdh15 |
T |
C |
8: 123,591,939 (GRCm39) |
I608T |
probably damaging |
Het |
| Cdkl2 |
A |
T |
5: 92,187,145 (GRCm39) |
D40E |
possibly damaging |
Het |
| Col9a2 |
G |
A |
4: 120,901,207 (GRCm39) |
G118R |
unknown |
Het |
| Cryge |
C |
A |
1: 65,089,945 (GRCm39) |
C79F |
probably damaging |
Het |
| Dapk1 |
T |
C |
13: 60,878,799 (GRCm39) |
L596P |
probably damaging |
Het |
| Dqx1 |
G |
A |
6: 83,038,070 (GRCm39) |
C486Y |
probably damaging |
Het |
| Dync2i1 |
T |
C |
12: 116,196,277 (GRCm39) |
E490G |
probably damaging |
Het |
| Enam |
A |
G |
5: 88,649,826 (GRCm39) |
Q445R |
probably damaging |
Het |
| Gm10608 |
CAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA |
CAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA |
9: 118,989,784 (GRCm39) |
|
probably benign |
Het |
| Gnpat |
A |
T |
8: 125,597,519 (GRCm39) |
D27V |
probably benign |
Het |
| Htr5a |
A |
T |
5: 28,047,996 (GRCm39) |
T184S |
possibly damaging |
Het |
| Lap3 |
C |
T |
5: 45,652,553 (GRCm39) |
P50S |
probably benign |
Het |
| Mamdc2 |
A |
T |
19: 23,288,271 (GRCm39) |
M589K |
probably damaging |
Het |
| Mast4 |
A |
G |
13: 102,872,004 (GRCm39) |
S2263P |
probably benign |
Het |
| Mef2b |
C |
T |
8: 70,618,247 (GRCm39) |
P109L |
possibly damaging |
Het |
| Meltf |
T |
A |
16: 31,703,778 (GRCm39) |
F168L |
probably damaging |
Het |
| Mib2 |
C |
T |
4: 155,743,917 (GRCm39) |
G42S |
probably damaging |
Het |
| Nup205 |
T |
A |
6: 35,211,641 (GRCm39) |
F1661I |
probably damaging |
Het |
| Or11h4b |
A |
T |
14: 50,918,473 (GRCm39) |
L206H |
probably damaging |
Het |
| Or5h19 |
A |
T |
16: 58,856,178 (GRCm39) |
N307K |
probably benign |
Het |
| Plac8 |
A |
T |
5: 100,704,447 (GRCm39) |
D83E |
probably benign |
Het |
| Pnpt1 |
T |
C |
11: 29,091,328 (GRCm39) |
|
probably benign |
Het |
| Pold2 |
G |
T |
11: 5,825,140 (GRCm39) |
Q86K |
probably benign |
Het |
| Ptprt |
A |
G |
2: 161,400,863 (GRCm39) |
L1057P |
probably damaging |
Het |
| Rev3l |
A |
G |
10: 39,708,635 (GRCm39) |
H2284R |
probably damaging |
Het |
| Scart1 |
T |
A |
7: 139,804,376 (GRCm39) |
C484S |
possibly damaging |
Het |
| Skint6 |
A |
C |
4: 113,095,300 (GRCm39) |
S120A |
probably benign |
Het |
| Slc1a7 |
G |
A |
4: 107,864,770 (GRCm39) |
V270M |
probably damaging |
Het |
| Spata2 |
A |
G |
2: 167,327,142 (GRCm39) |
M85T |
probably benign |
Het |
| Taf1b |
G |
T |
12: 24,559,558 (GRCm39) |
|
probably benign |
Het |
| Tert |
A |
G |
13: 73,790,178 (GRCm39) |
N844S |
probably benign |
Het |
| Thrap3 |
G |
A |
4: 126,073,882 (GRCm39) |
S288L |
possibly damaging |
Het |
| Ubap2l |
A |
G |
3: 89,955,180 (GRCm39) |
|
probably benign |
Het |
| Usp20 |
G |
T |
2: 30,897,825 (GRCm39) |
G216W |
probably damaging |
Het |
| Yy1 |
T |
A |
12: 108,759,457 (GRCm39) |
V40E |
unknown |
Het |
| Zfp335 |
G |
A |
2: 164,734,505 (GRCm39) |
H1254Y |
possibly 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 |
|
|
IGL02168:Ubtf
|
APN |
11 |
102,204,994 (GRCm39) |
missense |
probably damaging |
0.99 |
|
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 |
|
|
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 |
|
|
| Predicted Primers |
PCR Primer
(F):5'- GTAGTGGCCTGCAAACCAAAAGC -3'
(R):5'- TGACCGTCCATGAAACGTGGAAG -3'
Sequencing Primer
(F):5'- AGGCCCTGTCCATGCAATC -3'
(R):5'- TCCATGAAACGTGGAAGTCTTG -3'
|
| Posted On |
2014-01-05 |
Incidental Mutation