Mutagenetix > Incidental Mutation

Incidental Mutation 'R8947:Ubtf'

681400

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

068785-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R8947 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

102195386-102210568 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 102205802 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 41 (N41S)

Ref Sequence

ENSEMBL: ENSMUSP00000006754 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000006754] [ENSMUST00000079589] [ENSMUST00000107115] [ENSMUST00000107117] [ENSMUST00000107119] [ENSMUST00000107123] [ENSMUST00000128016] [ENSMUST00000178839] [ENSMUST00000146896] [ENSMUST00000173870] [ENSMUST00000174302]

AlphaFold

no structure available at present

Predicted Effect

possibly damaging
Transcript: ENSMUST00000006754
AA Change: N41S

PolyPhen 2 Score 0.670 (Sensitivity: 0.86; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000006754
Gene: ENSMUSG00000020923
AA Change: N41S

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

SMART Domains

Protein: ENSMUSP00000078539
Gene: ENSMUSG00000020923
AA Change: N41S

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: N41S

PolyPhen 2 Score 0.504 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000102732
Gene: ENSMUSG00000020923
AA Change: N41S

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: N41S

PolyPhen 2 Score 0.504 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000102734
Gene: ENSMUSG00000020923
AA Change: N41S

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: N41S

PolyPhen 2 Score 0.504 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000102736
Gene: ENSMUSG00000020923
AA Change: N41S

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
AA Change: N41S

PolyPhen 2 Score 0.357 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000102740
Gene: ENSMUSG00000020923
AA Change: N41S

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
AA Change: N41S

PolyPhen 2 Score 0.134 (Sensitivity: 0.92; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000131930
Gene: ENSMUSG00000020923
AA Change: N41S

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: ENSMUST00000178839
AA Change: N41S

PolyPhen 2 Score 0.504 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000136310
Gene: ENSMUSG00000020923
AA Change: N41S

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: ENSMUST00000146896
AA Change: N41S

PolyPhen 2 Score 0.077 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000134665
Gene: ENSMUSG00000020923
AA Change: N41S

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: ENSMUST00000173870
AA Change: N41S

PolyPhen 2 Score 0.357 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000133611
Gene: ENSMUSG00000020923
AA Change: N41S

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
AA Change: N41S

PolyPhen 2 Score 0.357 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000133844
Gene: ENSMUSG00000020923
AA Change: N41S

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.8%

Validation Efficiency

99% (93/94)

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: 97 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930562C15Rik	T	A	16: 4,665,292 (GRCm39)	F141L	unknown	Het
A2ml1	G	T	6: 128,529,219 (GRCm39)	N974K	probably damaging	Het
Abcg8	T	C	17: 84,999,246 (GRCm39)	L114P	probably damaging	Het
Akt3	A	T	1: 176,958,645 (GRCm39)	W22R	probably damaging	Het
Ank2	C	T	3: 126,736,396 (GRCm39)		probably benign	Het
Ap1g1	C	T	8: 110,589,964 (GRCm39)		probably benign	Het
Arhgef19	T	A	4: 140,973,618 (GRCm39)	V35E	possibly damaging	Het
Baz2b	T	C	2: 59,778,583 (GRCm39)	D759G	probably benign	Het
BC051665	C	A	13: 60,930,004 (GRCm39)	G320W	probably damaging	Het
Bche	T	A	3: 73,608,761 (GRCm39)	T222S	probably damaging	Het
C8a	T	C	4: 104,679,326 (GRCm39)	D444G	probably damaging	Het
Cacna1e	A	T	1: 154,277,896 (GRCm39)	S2019T	probably benign	Het
Carm1	T	C	9: 21,497,749 (GRCm39)	I373T	probably damaging	Het
Ccdc39	T	C	3: 33,869,609 (GRCm39)		probably benign	Het
Clic5	A	T	17: 44,553,148 (GRCm39)		probably benign	Het
Cntn3	A	G	6: 102,414,864 (GRCm39)	F28L	probably damaging	Het
Col6a5	C	T	9: 105,822,833 (GRCm39)	E175K	unknown	Het
Cpb2	T	C	14: 75,515,627 (GRCm39)	Y352H	probably damaging	Het
Cpeb3	A	T	19: 37,152,366 (GRCm39)	D3E	probably damaging	Het
Ctsl	T	C	13: 64,514,840 (GRCm39)	T155A	probably damaging	Het
Cygb	C	T	11: 116,540,645 (GRCm39)	A114T	probably damaging	Het
Cyp11a1	T	C	9: 57,924,738 (GRCm39)	V17A	probably benign	Het
Dhcr7	T	G	7: 143,400,959 (GRCm39)	I374S	probably damaging	Het
Dhx36	T	C	3: 62,380,387 (GRCm39)	R807G	probably benign	Het
Diaph1	A	T	18: 37,986,754 (GRCm39)	V1077E	probably damaging	Het
Ehmt2	A	G	17: 35,127,280 (GRCm39)	E131G	possibly damaging	Het
Evpl	A	G	11: 116,112,164 (GRCm39)	I1842T	probably damaging	Het
Fastk	C	A	5: 24,646,649 (GRCm39)	C294F	probably damaging	Het
Fndc5	T	C	4: 129,030,929 (GRCm39)	C20R	probably benign	Het
Gm7298	C	A	6: 121,757,553 (GRCm39)	Q1053K	possibly damaging	Het
Gm8362	A	G	14: 18,151,405 (GRCm39)		probably null	Het
Gmps	T	A	3: 63,906,098 (GRCm39)	I465N	probably damaging	Het
Heatr4	T	G	12: 84,001,431 (GRCm39)	M904L	probably benign	Het
Hhip	T	A	8: 80,771,785 (GRCm39)	D175V	probably damaging	Het
Hmcn2	G	A	2: 31,278,220 (GRCm39)	V1641M	probably damaging	Het
Hoxa5	T	G	6: 52,179,776 (GRCm39)	T200P	probably damaging	Het
Ift122	C	A	6: 115,901,368 (GRCm39)	A1050D	probably benign	Het
Igf2bp2	C	A	16: 21,897,473 (GRCm39)	E247*	probably null	Het
Irak1bp1	T	A	9: 82,728,846 (GRCm39)	L259H	probably damaging	Het
Irgm1	G	A	11: 48,759,575 (GRCm39)		probably benign	Het
Itih1	A	T	14: 30,657,866 (GRCm39)		probably benign	Het
Itpk1	A	T	12: 102,536,582 (GRCm39)	C355S	probably benign	Het
Kcng4	T	C	8: 120,352,452 (GRCm39)	E486G	possibly damaging	Het
Kif20b	T	C	19: 34,918,629 (GRCm39)	V671A	possibly damaging	Het
Kif28	T	G	1: 179,544,320 (GRCm39)	I345L	possibly damaging	Het
Klri2	C	G	6: 129,710,742 (GRCm39)		probably null	Het
Kntc1	T	C	5: 123,925,041 (GRCm39)	V1118A	probably benign	Het
Lpin2	T	A	17: 71,511,871 (GRCm39)	I34N	probably benign	Het
Lrch3	T	A	16: 32,802,199 (GRCm39)	V264D	possibly damaging	Het
Lrrk2	C	T	15: 91,586,473 (GRCm39)	Q430*	probably null	Het
Map10	T	G	8: 126,397,839 (GRCm39)	S411A	probably benign	Het
Map1a	A	T	2: 121,135,450 (GRCm39)	I2089F	probably benign	Het
Med12l	T	A	3: 58,984,443 (GRCm39)		probably benign	Het
Mypn	T	A	10: 63,005,156 (GRCm39)	Q317L	probably damaging	Het
Ncan	T	A	8: 70,555,171 (GRCm39)	I999F	probably damaging	Het
Nmrk2	C	A	10: 81,035,539 (GRCm39)	R134L	probably damaging	Het
Or4k42	C	T	2: 111,320,042 (GRCm39)	V154I	probably benign	Het
Or51f1d	T	A	7: 102,701,315 (GRCm39)	V270E	probably damaging	Het
Or5k17	T	C	16: 58,746,433 (GRCm39)	N167S	probably benign	Het
Or6z7	A	G	7: 6,483,246 (GRCm39)	V303A	probably benign	Het
Or8b1c	T	A	9: 38,384,685 (GRCm39)	I214N	probably damaging	Het
Osbpl1a	A	G	18: 12,899,858 (GRCm39)		probably null	Het
Pcdh1	T	C	18: 38,332,073 (GRCm39)	D310G	possibly damaging	Het
Pkn2	C	T	3: 142,517,674 (GRCm39)		probably null	Het
Plch1	T	A	3: 63,691,547 (GRCm39)	M31L	probably damaging	Het
Polg2	A	G	11: 106,659,170 (GRCm39)	F448L	probably damaging	Het
Ppp4r3b	A	G	11: 29,150,758 (GRCm39)	T475A	possibly damaging	Het
Prdm13	C	T	4: 21,678,817 (GRCm39)	E558K	probably damaging	Het
Prdm9	T	A	17: 15,764,270 (GRCm39)	I837F	possibly damaging	Het
R3hdm1	T	A	1: 128,102,694 (GRCm39)	M125K	possibly damaging	Het
Rbm39	A	T	2: 155,990,276 (GRCm39)	V468E	probably damaging	Het
Rnasel	T	A	1: 153,630,777 (GRCm39)	V431E	probably damaging	Het
Rps2	T	A	17: 24,940,227 (GRCm39)	D220E	probably benign	Het
Rsf1	T	C	7: 97,331,059 (GRCm39)		probably benign	Het
Rsph10b	G	T	5: 143,913,952 (GRCm39)	A710S	probably benign	Het
Sez6	A	T	11: 77,844,353 (GRCm39)	T59S	probably damaging	Het
Sf3b1	A	T	1: 55,039,444 (GRCm39)	V727E	probably damaging	Het
Slit2	T	G	5: 48,407,140 (GRCm39)	L857R	probably damaging	Het
Spata31g1	T	A	4: 42,972,097 (GRCm39)	S477T	probably benign	Het
Sspo	T	G	6: 48,425,504 (GRCm39)	C42G	probably damaging	Het
Strc	C	T	2: 121,201,470 (GRCm39)	D1245N	probably benign	Het
Supv3l1	T	A	10: 62,268,118 (GRCm39)	T576S	probably benign	Het
Tecrl	C	T	5: 83,461,154 (GRCm39)	R101Q	probably benign	Het
Tmeff2	A	G	1: 51,220,952 (GRCm39)	Y309C	probably damaging	Het
Tmem43	T	A	6: 91,462,362 (GRCm39)	W316R	probably damaging	Het
Tmigd3	T	C	3: 105,821,554 (GRCm39)	V141A	probably benign	Het
Trav9-1	T	C	14: 53,725,584 (GRCm39)	F8L	probably benign	Het
Trbv5	T	G	6: 41,039,641 (GRCm39)	F82C	probably damaging	Het
Uggt1	T	C	1: 36,197,229 (GRCm39)	T1225A	probably benign	Het
Vmn1r72	T	C	7: 11,403,807 (GRCm39)	R214G	possibly damaging	Het
Vmn2r12	T	G	5: 109,234,522 (GRCm39)	K563N	possibly damaging	Het
Vmn2r83	T	C	10: 79,304,873 (GRCm39)	S28P	probably benign	Het
Vwa8	T	G	14: 79,438,552 (GRCm39)	L1875R	probably damaging	Het
Xrcc6	T	A	15: 81,913,866 (GRCm39)	V64E	probably damaging	Het
Zfp292	T	C	4: 34,811,835 (GRCm39)	Y403C	probably damaging	Het
Zfp955a	A	T	17: 33,460,955 (GRCm39)	H392Q	probably damaging	Het
Zfyve19	T	C	2: 119,041,290 (GRCm39)	S69P	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
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
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
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'- TCCCCGTTTTCTCTGAGATGAAAAG -3'
(R):5'- AGAAGCAACCAGGGGCTTTG -3'

Sequencing Primer
(F):5'- TTTAATCCCAGCACTCAGGAGG -3'
(R):5'- ACCAGGGGCTTTGGGGAG -3'

Posted On

2021-08-31