Mutagenetix > Incidental Mutation

Incidental Mutation 'FR4342:Ubtf'

511281

Institutional Source

Beutler Lab

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) question?

Stock #

FR4342 ()

Quality Score

217.468

Status

Not validated

Chromosome

Chromosomal Location

102195386-102210568 bp(-) (GRCm39)

Type of Mutation

small insertion (1 aa in frame mutation)

DNA Base Change (assembly)

TCC to TCCGCC at 102197782 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000136310 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000006754] [ENSMUST00000079589] [ENSMUST00000107115] [ENSMUST00000107117] [ENSMUST00000107119] [ENSMUST00000107123] [ENSMUST00000146896] [ENSMUST00000178839] [ENSMUST00000173870] [ENSMUST00000174302]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000006754

SMART Domains

Protein: ENSMUSP00000006754
Gene: ENSMUSG00000020923

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 benign
Transcript: ENSMUST00000079589

SMART Domains

Protein: ENSMUSP00000078539
Gene: ENSMUSG00000020923

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: ENSMUST00000107115

SMART Domains

Protein: ENSMUSP00000102732
Gene: ENSMUSG00000020923

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 benign
Transcript: ENSMUST00000107117

SMART Domains

Protein: ENSMUSP00000102734
Gene: ENSMUSG00000020923

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 benign
Transcript: ENSMUST00000107119

SMART Domains

Protein: ENSMUSP00000102736
Gene: ENSMUSG00000020923

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 benign
Transcript: ENSMUST00000107123

SMART Domains

Protein: ENSMUSP00000102740
Gene: ENSMUSG00000020923

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: 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

Predicted Effect

probably benign
Transcript: ENSMUST00000178839

SMART Domains

Protein: ENSMUSP00000136310
Gene: ENSMUSG00000020923

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 benign
Transcript: ENSMUST00000173870

SMART Domains

Protein: ENSMUSP00000133611
Gene: ENSMUSG00000020923

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: ENSMUST00000174302

SMART Domains

Protein: ENSMUSP00000133844
Gene: ENSMUSG00000020923

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

noncoding transcript
Transcript: ENSMUST00000174400

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000174726

Coding Region Coverage

1x: 99.7%
3x: 99.4%
10x: 97.8%
20x: 93.8%

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: 107 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2810004N23Rik	TT	TTATGT	8: 125,566,572 (GRCm39)		probably null	Homo
4930433I11Rik	AACC	A	7: 40,642,479 (GRCm39)		probably benign	Het
7530416G11Rik	T	A	15: 85,378,508 (GRCm39)	E45V	unknown	Homo
Ankrd35	TCCCC	TCCC	3: 96,590,831 (GRCm39)		probably null	Het
Anxa2	CCC	CCCACC	9: 69,387,487 (GRCm39)		probably benign	Het
Anxa2	C	CCCA	9: 69,387,492 (GRCm39)		probably benign	Het
Apc	CAATAAAGC	CAATAAAGCAAATAAAGC	18: 34,415,052 (GRCm39)		probably benign	Homo
Arrb2	C	T	11: 70,329,497 (GRCm39)	T269M	probably damaging	Homo
Bcas3	G	A	11: 85,400,323 (GRCm39)	V431I	probably benign	Homo
Begain	CCCCGCC	CCCCGCCCCCGCC	12: 108,999,344 (GRCm39)		probably benign	Homo
Catsper2	TCA	TCAACA	2: 121,228,274 (GRCm39)		probably benign	Het
Ccdc121	GAGAAG	GAG	5: 31,644,717 (GRCm39)		probably benign	Homo
Cd164	G	T	10: 41,397,922 (GRCm39)	A59S	probably benign	Homo
Cd22	C	T	7: 30,577,507 (GRCm39)	R2H	possibly damaging	Homo
Cimip2b	CAGAG	CAG	4: 43,427,384 (GRCm39)		probably null	Homo
Cluh	GAGCCT	GAGCCTCAGCCT	11: 74,560,350 (GRCm39)		probably benign	Het
Cluh	GCCTGA	GCCTGAACCTGA	11: 74,560,352 (GRCm39)		probably benign	Het
Cntnap1	AGCCCC	AGCCCCCGCCCC	11: 101,080,401 (GRCm39)		probably benign	Het
Col2a1	C	A	15: 97,886,862 (GRCm39)		probably null	Het
Col6a5	A	T	9: 105,811,373 (GRCm39)	N715K	unknown	Homo
Cpeb4	T	TGA	11: 31,877,638 (GRCm39)		probably benign	Homo
Dbr1	AGGAGG	AGGAGGGGGAGG	9: 99,465,733 (GRCm39)		probably benign	Het
Defa29	C	G	8: 21,816,160 (GRCm39)	R69P	probably benign	Het
Dhx8	CG	CGAGAACGG	11: 101,629,032 (GRCm39)		probably null	Het
Dnaaf9	TCC	TCCCCC	2: 130,612,662 (GRCm39)		probably benign	Het
Dnah12	G	T	14: 26,571,342 (GRCm39)	G2817V	probably damaging	Homo
Dthd1	C	CTTA	5: 63,000,369 (GRCm39)		probably benign	Homo
E4f1	GC	GCCCC	17: 24,674,171 (GRCm39)		probably benign	Het
F830016B08Rik	A	ACAG	18: 60,433,013 (GRCm39)		probably benign	Homo
Fbrsl1	GTGTGTGTGCTGGTGCGTGTGCTGGTG	GTGTGTGTGCTGGTGTGTGTGCTGGTGCGTGTGCTGGTG	5: 110,525,991 (GRCm39)		probably benign	Het
Fbxo22	A	C	9: 55,128,354 (GRCm39)		probably null	Het
Flg	G	A	3: 93,197,820 (GRCm39)		probably benign	Het
Fmn1	TCC	TCCTCCACC	2: 113,356,128 (GRCm39)		probably benign	Homo
Frmpd2	G	T	14: 33,232,978 (GRCm39)	L399F	probably damaging	Homo
Gbp2b	A	G	3: 142,309,413 (GRCm39)	I175V	probably benign	Het
Gjc2	T	TCCCG	11: 59,073,569 (GRCm39)		probably benign	Homo
Gm14496	A	C	2: 181,637,699 (GRCm39)	K258Q	probably benign	Het
Gm4340	CAGAAG	CAGAAGAAG	10: 104,031,960 (GRCm39)		probably benign	Het
Gm4340	CAGAAG	CAGAAGAAG	10: 104,031,927 (GRCm39)		probably benign	Het
Gpatch11	AGAGGA	AGAGGATGAGGA	17: 79,149,607 (GRCm39)		probably benign	Het
H1f6	TGTGG	TG	13: 23,879,896 (GRCm39)		probably benign	Homo
H2-Q4	G	A	17: 35,599,381 (GRCm39)	D155N	probably damaging	Homo
Hoxa3	G	GCTT	6: 52,147,110 (GRCm39)		probably benign	Homo
Ifi208	ATGGTG	ATG	1: 173,505,264 (GRCm39)		probably benign	Homo
Ighv5-9	C	T	12: 113,625,497 (GRCm39)	S82N	probably benign	Homo
Klra10	G	A	6: 130,249,710 (GRCm39)	R192C	probably benign	Het
Kmt2b	TCCTCC	TCCTCCCCCTCC	7: 30,285,800 (GRCm39)		probably benign	Het
Krt10	CGCC	CGCCGCC	11: 99,277,025 (GRCm39)		probably benign	Het
Krt10	ACC	ACCCCC	11: 99,277,029 (GRCm39)		probably benign	Homo
Lce1m	CGCTGCTGCTGCCACAGCA	C	3: 92,925,554 (GRCm39)		probably benign	Het
Mak16	T	G,A	8: 31,651,777 (GRCm39)	E203D	probably benign	Homo
Med12l	AGC	AGCGGC	3: 59,183,409 (GRCm39)		probably benign	Het
Med12l	AGCGGC	AGCGGCGGC	3: 59,183,415 (GRCm39)		probably benign	Het
Mn1	AGC	AGCGGC	5: 111,567,572 (GRCm39)		probably benign	Het
Nacad	TC	TCAGGGGC	11: 6,549,762 (GRCm39)		probably benign	Het
Naip1	C	T	13: 100,561,979 (GRCm39)	R1062K	probably benign	Het
Ndel1	G	A	11: 68,724,235 (GRCm39)	P246L	probably damaging	Het
Nelfe	AC	ACAAAGAGCGGGATCGAGACAGAGCC	17: 35,073,065 (GRCm39)		probably benign	Het
Or51q1	TCC	TCCC	7: 103,629,110 (GRCm39)		probably null	Het
Or5p70	A	G	7: 107,995,100 (GRCm39)	T258A	probably benign	Het
Or5p70	G	A	7: 107,995,105 (GRCm39)	M259I	probably benign	Het
P4ha2	GTGTTGCTG	GTG	11: 54,001,077 (GRCm39)		probably benign	Homo
Pde3b	GGTGGTGGTG	GGTGGTGGTGGTG	7: 114,134,010 (GRCm39)		probably benign	Homo
Pdik1l	ACCACC	ACCACCCCCACC	4: 134,006,820 (GRCm39)		probably benign	Homo
Phaf1	G	A	8: 105,967,730 (GRCm39)	G207E	probably benign	Homo
Plekhs1	AGAC	AGACCTCCCCCGCGAC	19: 56,468,293 (GRCm39)		probably benign	Homo
Plekhs1	TCCAGAC	TCCAGACCTCCCCCCAGAC	19: 56,468,290 (GRCm39)		probably benign	Homo
Pramel16	AAGAG	AAG	4: 143,676,327 (GRCm39)		probably null	Het
Pramel16	G	A	4: 143,676,312 (GRCm39)	T264M	probably damaging	Het
Pramel27	AA	AATA	4: 143,578,213 (GRCm39)		probably null	Homo
Prkn	G	A	17: 12,073,650 (GRCm39)	V323M	probably damaging	Homo
Ptms	TCT	TCTCCT	6: 124,891,417 (GRCm39)		probably benign	Homo
Raet1d	A	G	10: 22,247,458 (GRCm39)	Q178R	probably benign	Het
Rtbdn	AGCG	AGCGCCGGCG	8: 85,682,797 (GRCm39)		probably benign	Het
Rtbdn	GC	GCAGCGCC	8: 85,682,807 (GRCm39)		probably benign	Het
Semp2l2a	G	C	8: 13,887,613 (GRCm39)	H159Q	probably benign	Het
Serac1	T	A	17: 6,121,083 (GRCm39)	K70N	probably damaging	Homo
Sfswap	CCCACTC	CCCACTCAGACCACTC	5: 129,646,821 (GRCm39)		probably benign	Homo
Sp110	ACT	ACTGCT	1: 85,515,209 (GRCm39)		probably benign	Het
Spaca1	GCTCTC	GCTCTCACTCTC	4: 34,049,838 (GRCm39)		probably benign	Het
Spag17	GGA	GGATGA	3: 99,963,565 (GRCm39)		probably benign	Het
Spag17	GGAGGAGGA	GGAGGAGGAGGA	3: 99,963,568 (GRCm39)		probably benign	Homo
Speer4a1	C	A	5: 26,241,746 (GRCm39)	E127*	probably null	Het
Sry	GGT	GGTTGT	Y: 2,662,836 (GRCm39)		probably benign	Het
Sry	TGG	TGGGGG	Y: 2,662,835 (GRCm39)		probably benign	Het
Sry	CTGCTGGTG	CTG	Y: 2,663,146 (GRCm39)		probably benign	Het
Sry	GGT	GGTAGT	Y: 2,662,839 (GRCm39)		probably benign	Homo
Tdpoz3	C	T	3: 93,733,819 (GRCm39)	P165S	probably benign	Het
Tdpoz4	GAA	GA	3: 93,704,187 (GRCm39)		probably null	Het
Tert	AGGCC	AGGCCAAGGGGGCC	13: 73,796,419 (GRCm39)		probably benign	Homo
Tmbim7	C	T	5: 3,720,064 (GRCm39)	R100C	possibly damaging	Homo
Tnfrsf9	CT	CTGAT	4: 151,018,851 (GRCm39)		probably benign	Homo
Tob1	AGC	AGCCGC	11: 94,105,298 (GRCm39)		probably benign	Het
Trav6n-5	GCTT	G	14: 53,342,369 (GRCm39)		probably benign	Homo
Triobp	G	GTCA	15: 78,877,592 (GRCm39)		probably benign	Homo
Tsen2	AGG	AGGTGG	6: 115,537,033 (GRCm39)		probably benign	Het
Vmn2r125	G	A	4: 156,703,260 (GRCm39)	V213I	probably benign	Het
Vmn2r87	C	T	10: 130,314,583 (GRCm39)	M334I	probably benign	Homo
Zdhhc16	G	A	19: 41,930,588 (GRCm39)		probably benign	Het
Zfp28	G	A	7: 6,397,862 (GRCm39)	G766R	probably damaging	Het
Zfp335	GTCGTC	GTCGTCGTC	2: 164,749,385 (GRCm39)		probably benign	Het
Zfp335	C	CCCC	2: 164,749,397 (GRCm39)		probably benign	Het
Zfp428	G	A	7: 24,214,506 (GRCm39)	D41N	probably damaging	Homo
Zfp429	A	T	13: 67,544,769 (GRCm39)	F48Y	probably benign	Het
Zfp598	CCACC	CCACCCACACC	17: 24,899,754 (GRCm39)		probably benign	Het
Zfp93	G	A	7: 23,975,011 (GRCm39)	R332H	possibly damaging	Het
Zpld2	G	GCTC	4: 133,929,942 (GRCm39)		probably benign	Homo

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
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

Predicted Primers

PCR Primer
(F):5'- TGGGAGAATAAAGACCCCACCG -3'
(R):5'- CCCATCCTTTCTGTCAGAAACG -3'

Sequencing Primer
(F):5'- ACCGTCACCGTGTGTGTG -3'
(R):5'- CCTTTCTGTCAGAAACGTAAGAAC -3'

Posted On

2018-04-05