Incidental Mutation 'R5634:Ubtf'
ID 440042
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 043285-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R5634 (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 102201150 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Cysteine at position 268 (Y268C)
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 probably damaging
Transcript: ENSMUST00000006754
AA Change: Y268C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000006754
Gene: ENSMUSG00000020923
AA Change: Y268C

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: Y305C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000078539
Gene: ENSMUSG00000020923
AA Change: Y305C

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: Y268C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000102732
Gene: ENSMUSG00000020923
AA Change: Y268C

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: Y268C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000102734
Gene: ENSMUSG00000020923
AA Change: Y268C

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: Y268C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000102736
Gene: ENSMUSG00000020923
AA Change: Y268C

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: Y305C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000102740
Gene: ENSMUSG00000020923
AA Change: Y305C

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 benign
Transcript: ENSMUST00000128016
SMART Domains Protein: ENSMUSP00000131930
Gene: ENSMUSG00000020923

DomainStartEndE-ValueType
Blast:SANT 18 78 2e-34 BLAST
HMG 111 169 1.15e-3 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000173870
AA Change: Y305C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000133611
Gene: ENSMUSG00000020923
AA Change: Y305C

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: ENSMUST00000174302
AA Change: Y305C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000133844
Gene: ENSMUSG00000020923
AA Change: Y305C

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: ENSMUST00000178839
AA Change: Y268C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000136310
Gene: ENSMUSG00000020923
AA Change: Y268C

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 noncoding transcript
Transcript: ENSMUST00000174400
Predicted Effect noncoding transcript
Transcript: ENSMUST00000174726
Predicted Effect probably benign
Transcript: ENSMUST00000146896
SMART Domains Protein: ENSMUSP00000134665
Gene: ENSMUSG00000020923

DomainStartEndE-ValueType
Blast:SANT 18 78 1e-34 BLAST
HMG 83 151 2.09e-15 SMART
Meta Mutation Damage Score 0.9726 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.4%
  • 20x: 95.7%
Validation Efficiency 98% (60/61)
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: 57 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acat1 T C 9: 53,494,921 (GRCm39) probably benign Het
Aen A T 7: 78,552,255 (GRCm39) T34S probably benign Het
Apoh T A 11: 108,302,875 (GRCm39) V280E probably damaging Het
Ccdc87 A G 19: 4,890,693 (GRCm39) H395R probably benign Het
Ccrl2 T A 9: 110,885,055 (GRCm39) probably null Het
Cdh20 T C 1: 104,902,800 (GRCm39) F497S probably damaging Het
Cfap54 C A 10: 92,740,125 (GRCm39) probably benign Het
Cimap1b T A 15: 89,262,410 (GRCm39) T70S probably benign Het
Cipc T A 12: 86,999,749 (GRCm39) probably null Het
Col14a1 T A 15: 55,381,694 (GRCm39) Y1756N probably damaging Het
Cyp2c54 G A 19: 40,060,858 (GRCm39) A95V possibly damaging Het
Dcdc5 A G 2: 106,234,325 (GRCm39) noncoding transcript Het
Dnah17 T C 11: 117,943,752 (GRCm39) probably null Het
Eepd1 A T 9: 25,514,849 (GRCm39) N552I probably benign Het
Eif2ak4 A T 2: 118,292,792 (GRCm39) R1218W probably damaging Het
Fbxw18 T A 9: 109,505,871 (GRCm39) I467F possibly damaging Het
Ffar4 GCTTCTT GCTT 19: 38,102,373 (GRCm39) probably benign Het
Gm4787 G C 12: 81,424,604 (GRCm39) T518S probably benign Het
Gpha2 A G 19: 6,276,890 (GRCm39) T25A probably benign Het
Grin3a T A 4: 49,792,843 (GRCm39) I297F probably damaging Het
Herc2 G A 7: 55,856,531 (GRCm39) G3924R probably damaging Het
Hmcn2 G T 2: 31,223,893 (GRCm39) D97Y probably damaging Het
Igdcc4 G A 9: 65,041,828 (GRCm39) G1131D probably benign Het
Il18rap T C 1: 40,578,536 (GRCm39) probably benign Het
Ino80d C A 1: 63,101,442 (GRCm39) probably benign Het
Klhl1 T C 14: 96,477,707 (GRCm39) T454A probably damaging Het
Krt84 C A 15: 101,437,084 (GRCm39) V360L probably benign Het
Lin9 T A 1: 180,496,763 (GRCm39) L351I probably benign Het
Lrrc37 T C 11: 103,432,840 (GRCm39) N1267S possibly damaging Het
Mapkbp1 A G 2: 119,803,576 (GRCm39) N15S probably damaging Het
Med13l T C 5: 118,698,915 (GRCm39) F22S possibly damaging Het
Mrc2 T A 11: 105,227,040 (GRCm39) C548* probably null Het
Nacad T C 11: 6,552,387 (GRCm39) E268G possibly damaging Het
Nfxl1 A G 5: 72,686,833 (GRCm39) C527R probably damaging Het
Nphp1 A T 2: 127,601,570 (GRCm39) C412S possibly damaging Het
Or1e16 AGCGGTCGTAGGC AGC 11: 73,286,480 (GRCm39) probably null Het
Or4g16 A G 2: 111,137,437 (GRCm39) I296V probably benign Het
Per2 C T 1: 91,372,429 (GRCm39) C215Y probably benign Het
Pias1 T C 9: 62,803,255 (GRCm39) T343A probably benign Het
Pja2 C T 17: 64,599,862 (GRCm39) V541M probably damaging Het
Plxna4 G A 6: 32,214,658 (GRCm39) Q608* probably null Het
Ppil4 T A 10: 7,690,542 (GRCm39) D398E probably benign Het
Ppp4r3a T A 12: 101,009,780 (GRCm39) D8V probably damaging Het
Pstk A C 7: 130,973,072 (GRCm39) D57A probably damaging Het
Ptprd T C 4: 75,990,255 (GRCm39) I53V probably benign Het
Pyroxd2 A G 19: 42,728,924 (GRCm39) F159L probably benign Het
Rnf103 A G 6: 71,486,601 (GRCm39) M411V probably benign Het
Scn4a T C 11: 106,220,830 (GRCm39) D943G probably benign Het
Sdk2 T C 11: 113,742,540 (GRCm39) T790A probably damaging Het
Sfr1 T C 19: 47,722,310 (GRCm39) L242P probably damaging Het
Snx25 T C 8: 46,494,428 (GRCm39) D819G possibly damaging Het
Sult2b1 A G 7: 45,383,506 (GRCm39) V183A probably damaging Het
Tcf4 C A 18: 69,769,918 (GRCm39) S8R possibly damaging Het
Ttc7 A G 17: 87,649,515 (GRCm39) D531G probably benign Het
Uap1l1 A C 2: 25,254,145 (GRCm39) C271G probably damaging Het
Vinac1 A T 2: 128,881,406 (GRCm39) D173E probably benign Het
Zfp951 A T 5: 104,963,155 (GRCm39) M137K probably benign 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
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
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'- GGCAAAGCTCATGCGCTAAAC -3'
(R):5'- TGAGGAAGGCATCACCAAGTC -3'

Sequencing Primer
(F):5'- TCATGCGCTAAACCCCAAGTC -3'
(R):5'- CCTCACCAAGGCCGAGC -3'
Posted On 2016-11-08