Incidental Mutation 'R1780:Ubtf'
ID 197466
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 039811-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R1780 (G1)
Quality Score 225
Status Validated
Chromosome 11
Chromosomal Location 102195386-102210568 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 102205744 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Leucine at position 60 (F60L)
Ref Sequence ENSEMBL: ENSMUSP00000136310 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000006754] [ENSMUST00000079589] [ENSMUST00000107115] [ENSMUST00000107117] [ENSMUST00000107119] [ENSMUST00000107123] [ENSMUST00000173870] [ENSMUST00000146896] [ENSMUST00000128016] [ENSMUST00000178839] [ENSMUST00000174302]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000006754
AA Change: F60L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000006754
Gene: ENSMUSG00000020923
AA Change: F60L

DomainStartEndE-ValueType
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: F60L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000078539
Gene: ENSMUSG00000020923
AA Change: F60L

DomainStartEndE-ValueType
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: F60L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000102732
Gene: ENSMUSG00000020923
AA Change: F60L

DomainStartEndE-ValueType
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: F60L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000102734
Gene: ENSMUSG00000020923
AA Change: F60L

DomainStartEndE-ValueType
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: F60L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000102736
Gene: ENSMUSG00000020923
AA Change: F60L

DomainStartEndE-ValueType
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: F60L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000102740
Gene: ENSMUSG00000020923
AA Change: F60L

DomainStartEndE-ValueType
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: F60L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000133611
Gene: ENSMUSG00000020923
AA Change: F60L

DomainStartEndE-ValueType
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: ENSMUST00000146896
AA Change: F60L

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000134665
Gene: ENSMUSG00000020923
AA Change: F60L

DomainStartEndE-ValueType
Blast:SANT 18 78 1e-34 BLAST
HMG 83 151 2.09e-15 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000128016
AA Change: F60L

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000131930
Gene: ENSMUSG00000020923
AA Change: F60L

DomainStartEndE-ValueType
Blast:SANT 18 78 2e-34 BLAST
HMG 111 169 1.15e-3 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000178839
AA Change: F60L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000136310
Gene: ENSMUSG00000020923
AA Change: F60L

DomainStartEndE-ValueType
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: ENSMUST00000174302
AA Change: F60L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000133844
Gene: ENSMUSG00000020923
AA Change: F60L

DomainStartEndE-ValueType
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
Meta Mutation Damage Score 0.8755 question?
Coding Region Coverage
  • 1x: 97.4%
  • 3x: 96.8%
  • 10x: 95.2%
  • 20x: 92.3%
Validation Efficiency 98% (80/82)
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: 77 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrl2 T C 3: 148,558,229 (GRCm39) E493G probably damaging Het
Aff3 A T 1: 38,574,783 (GRCm39) S66T probably damaging Het
Ankrd17 T A 5: 90,380,274 (GRCm39) K2470N probably damaging Het
Ap3m1 T C 14: 21,091,138 (GRCm39) T156A probably benign Het
Arhgef4 T A 1: 34,763,241 (GRCm39) S832R possibly damaging Het
Asb10 T C 5: 24,738,674 (GRCm39) D423G possibly damaging Het
Ash1l A G 3: 88,873,291 (GRCm39) T25A probably benign Het
Atp13a2 T A 4: 140,729,771 (GRCm39) L663I possibly damaging Het
Atp9b A T 18: 80,820,112 (GRCm39) Y174* probably null Het
Bche A G 3: 73,607,953 (GRCm39) I491T probably benign Het
Bckdhb T C 9: 83,835,836 (GRCm39) probably null Het
Cadps2 C T 6: 23,320,931 (GRCm39) probably null Het
Cdc42bpb A T 12: 111,289,341 (GRCm39) V468E probably damaging Het
Chrnd T C 1: 87,120,270 (GRCm39) V33A possibly damaging Het
Col6a5 A T 9: 105,814,077 (GRCm39) V645D unknown Het
Cpa1 C T 6: 30,643,007 (GRCm39) L312F probably damaging Het
Cyp2a5 A G 7: 26,541,301 (GRCm39) probably benign Het
Cyp2c39 C A 19: 39,527,295 (GRCm39) probably benign Het
Cyp2d26 T C 15: 82,678,208 (GRCm39) N56S probably damaging Het
Ddx21 A G 10: 62,429,926 (GRCm39) probably benign Het
Dnah11 A T 12: 117,991,293 (GRCm39) C2358S probably damaging Het
Entpd8 T C 2: 24,974,318 (GRCm39) S368P probably benign Het
Epg5 A T 18: 78,067,205 (GRCm39) Q2222L probably damaging Het
Ercc5 T A 1: 44,206,956 (GRCm39) V623E probably benign Het
Flg2 A G 3: 93,110,306 (GRCm39) E778G unknown Het
Gbe1 C T 16: 70,292,212 (GRCm39) R515* probably null Het
Hsd17b6 A G 10: 127,830,196 (GRCm39) probably null Het
Hyal6 C T 6: 24,734,031 (GRCm39) probably benign Het
Ifi27l2b A G 12: 103,417,578 (GRCm39) I203T probably damaging Het
Kcnk9 A C 15: 72,384,250 (GRCm39) D309E unknown Het
Lrp6 C T 6: 134,441,414 (GRCm39) R1184Q probably damaging Het
Mdn1 T C 4: 32,700,103 (GRCm39) F1399L probably damaging Het
Mroh2a C T 1: 88,158,402 (GRCm39) R150* probably null Het
Mx1 T C 16: 97,252,712 (GRCm39) *289W probably null Het
Myo7b T C 18: 32,094,238 (GRCm39) E1970G probably damaging Het
Mypn T C 10: 62,957,743 (GRCm39) Y24C probably damaging Het
Naxe G C 3: 87,964,440 (GRCm39) P167A probably benign Het
Nmnat2 A T 1: 152,988,186 (GRCm39) K272* probably null Het
Nmnat3 C T 9: 98,236,164 (GRCm39) T19M probably damaging Het
Or4f52 T C 2: 111,062,043 (GRCm39) I32V probably benign Het
Or51b17 A T 7: 103,542,762 (GRCm39) F60Y probably damaging Het
Or51b4 A G 7: 103,530,799 (GRCm39) V217A probably benign Het
Or5b118 A G 19: 13,448,726 (GRCm39) T131A probably benign Het
Or9s27 G A 1: 92,516,111 (GRCm39) V20M probably benign Het
Pgm3 T G 9: 86,438,257 (GRCm39) E509D probably damaging Het
Phf3 A T 1: 30,851,023 (GRCm39) D1110E probably damaging Het
Pkd1 T G 17: 24,800,543 (GRCm39) S3062A probably benign Het
Pogz A T 3: 94,777,437 (GRCm39) K372N possibly damaging Het
Pou1f1 A G 16: 65,320,356 (GRCm39) Y15C probably benign Het
Ppfia2 A G 10: 106,732,368 (GRCm39) T972A possibly damaging Het
Rasip1 A G 7: 45,284,742 (GRCm39) Y703C possibly damaging Het
Recql T A 6: 142,310,324 (GRCm39) Q502L probably benign Het
Rgs9 A T 11: 109,130,325 (GRCm39) Y383* probably null Het
Rimbp3 T C 16: 17,030,496 (GRCm39) S1307P probably benign Het
Rspo1 A G 4: 124,901,538 (GRCm39) T200A probably damaging Het
Ryr3 C T 2: 112,697,637 (GRCm39) M922I probably damaging Het
Samm50 C T 15: 84,095,328 (GRCm39) A438V probably damaging Het
Sec1 A C 7: 45,328,256 (GRCm39) S264A probably benign Het
Sec31a A T 5: 100,529,195 (GRCm39) probably null Het
Slc13a3 T C 2: 165,248,619 (GRCm39) N553S unknown Het
Smg6 T A 11: 74,836,942 (GRCm39) L852Q probably damaging Het
Spata13 A G 14: 60,929,174 (GRCm39) N244S probably damaging Het
Srbd1 T C 17: 86,365,113 (GRCm39) R648G probably damaging Het
Sugct T G 13: 17,627,039 (GRCm39) probably null Het
Tmed10 A G 12: 85,401,653 (GRCm39) Y85H probably damaging Het
Trim68 A G 7: 102,333,280 (GRCm39) I134T possibly damaging Het
Trio A G 15: 27,744,124 (GRCm39) C2603R possibly damaging Het
Tspyl3 G A 2: 153,067,176 (GRCm39) R21W probably damaging Het
Ttn T C 2: 76,641,043 (GRCm39) I11863V probably null Het
Ubp1 G A 9: 113,793,647 (GRCm39) A283T possibly damaging Het
Vmn1r235 T C 17: 21,481,999 (GRCm39) I108T probably benign Het
Vmn2r125 T C 4: 156,703,668 (GRCm39) S349P probably damaging Het
Vmn2r25 A G 6: 123,805,424 (GRCm39) S478P probably damaging Het
Vmn2r88 T A 14: 51,656,029 (GRCm39) V746D probably damaging Het
Zcwpw1 A G 5: 137,794,914 (GRCm39) K37E probably damaging Het
Zdhhc24 T C 19: 4,933,794 (GRCm39) S284P probably damaging Het
Zswim8 C A 14: 20,766,395 (GRCm39) H841N probably damaging Het
Other mutations in Ubtf
AlleleSourceChrCoordTypePredicted EffectPPH 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
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
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'- TGGTAGAACTGTGAGCACTAGGCG -3'
(R):5'- ATGAGCCAGGTGTGGTGACTTCTC -3'

Sequencing Primer
(F):5'- tcaggaggcaggggcag -3'
(R):5'- CTTACATGTCACAGACCGCTG -3'
Posted On 2014-05-23