Mutagenetix > Incidental Mutation

Incidental Mutation 'FR4737:Ubtf'

511715

Institutional Source

Beutler Lab

Gene Symbol

Ubtf

Ensembl Gene

ENSMUSG00000020923

Gene Name

upstream binding transcription factor, RNA polymerase I

Synonyms

A930005G04Rik, UBF1, Tcfubf, UBF

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

FR4737 ()

Quality Score

216.468

Status

Not validated

Chromosome

Chromosomal Location

102304560-102319742 bp(-) (GRCm38)

Type of Mutation

nonsense

DNA Base Change (assembly)

CCT to CCTACT at 102306948 bp (GRCm38)

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] [ENSMUST00000173870] [ENSMUST00000174302] [ENSMUST00000178839]

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 null
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 null
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 null
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 null
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 null
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 null
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 null
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

probably null
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

noncoding transcript
Transcript: ENSMUST00000174726

Coding Region Coverage

1x: 99.8%
3x: 99.6%
10x: 98.8%
20x: 97.0%

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: 210 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700001K19Rik	TCT	TCTCCT	12: 110,668,448		probably benign	Het
2010300C02Rik	T	A	1: 37,625,035	E594V	probably benign	Homo
2010300C02Rik	C	A	1: 37,625,036	E594*	probably null	Homo
4930402H24Rik	CC	CCTGC	2: 130,770,752		probably benign	Het
4932415D10Rik	TTCA	T	10: 82,285,469		probably benign	Homo
4932438A13Rik	TTATTAT	TTATTATTATTATTACTATTAT	3: 37,050,754		probably benign	Het
A630001G21Rik	CTGTT	CT	1: 85,723,135		probably benign	Homo
Abcb11	C	A	2: 69,243,518	R1221L	probably damaging	Homo
Abcb4	GAAA	G	5: 8,896,597		probably benign	Homo
Ahdc1	CT	CTCGT	4: 133,062,759		probably benign	Homo
Alpk3	TCT	TCTACT	7: 81,077,762		probably benign	Het
Amfr	C	G	8: 94,005,159	G30R	probably damaging	Homo
Ankrd35	GC	GCTAC	3: 96,683,849		probably benign	Homo
Anxa7	C	T	14: 20,469,411	G113E	probably damaging	Homo
Apc	CAATAAAGC	CAATAAAGCTAATAAAGC	18: 34,281,999		probably benign	Homo
Apol6	GTTT	GTTTCTTT	15: 77,051,442		probably null	Homo
Arpc1b	GGTGGC	GGTGGCGTGGC	5: 145,126,787		probably null	Het
AY358078	C	T	14: 51,805,698	S281L	unknown	Homo
BC051142	CAG	CAGAAG	17: 34,460,051		probably benign	Het
BC051142	GCA	GCATCA	17: 34,460,068		probably benign	Het
Blm	ACCTGC	ACCTGCCTGC	7: 80,463,771		probably null	Het
Blm	T	TACCA	7: 80,463,774		probably null	Het
Blzf1	TTGT	TT	1: 164,303,917		probably null	Homo
Btnl10	A	AAGG	11: 58,923,931		probably benign	Homo
Cacna1a	ACC	ACCCCC	8: 84,638,726		probably benign	Homo
Cacna1a	ACC	ACCGCC	8: 84,638,720		probably benign	Het
Catsper2	TTC	TTCTTTTACTTTGTC	2: 121,397,540		probably benign	Homo
Ccdc170	ACC	ACCTCC	10: 4,561,023		probably benign	Het
Ccdc170	AC	ACCCC	10: 4,561,029		probably benign	Het
Ccdc73	TAAG	T	2: 104,991,840		probably benign	Homo
Ccnk	TTCCCAC	T	12: 108,202,507		probably benign	Het
Cdan1	A	C	2: 120,724,971	V763G	probably damaging	Het
Cdk6	A	G	5: 3,344,211		probably benign	Het
Cdx1	TGCTGC	TGCTGCCGCTGC	18: 61,019,874		probably benign	Het
Cdx1	GCTGCT	GCTGCTTCTGCT	18: 61,019,878		probably benign	Het
Cfap46	CCTTCT	CCTTCTTCT	7: 139,638,930		probably benign	Homo
Chd4	GC	GCTCCCCC	6: 125,122,131		probably benign	Homo
Cluh	CCCCGAGCC	CCCCGAGCCCGAGCC	11: 74,669,514		probably benign	Het
Cluh	AGCCTG	AGCCTGCGCCTG	11: 74,669,519		probably benign	Het
Cluh	GAGCCT	GAGCCTAAGCCT	11: 74,669,524		probably benign	Het
Cluh	CC	CCTGAGGC	11: 74,669,533		probably benign	Het
Cntnap1	AGCCCC	AGCCCCCGCCCC	11: 101,189,569		probably benign	Het
Cntnap1	GCCCCA	GCCCCAACCCCA	11: 101,189,576		probably benign	Het
Cntnap1	GCCCCA	GCCCCACCCCCA	11: 101,189,582		probably benign	Het
Cntnap1	CCCAGC	CCCAGCGCCAGC	11: 101,189,590		probably benign	Het
Cul9	CTCTTC	CTCTTCTTC	17: 46,500,846		probably benign	Het
Cul9	CTC	CTCTTC	17: 46,500,858		probably benign	Het
Cyth2	C	A	7: 45,813,042	S102I	possibly damaging	Het
Dbr1	AGGAGG	AGGAGGCGGAGG	9: 99,583,686		probably benign	Het
Dbr1	GGAGG	GGAGGACGAGG	9: 99,583,699		probably benign	Het
Dhx8	GACCGA	GACCGATACCGA	11: 101,738,179		probably benign	Homo
Dhx8	CGAGAC	CGAGACGGAGAC	11: 101,738,182		probably benign	Homo
Dhx8	GAGACC	GAGACCCAGACC	11: 101,738,189		probably benign	Homo
Dnah8	CCTCCCG	C	17: 30,635,477		probably benign	Homo
Dnah8	ACTGCCCCT	ACT	17: 30,635,465		probably benign	Het
Dnajb5	AGGTG	A	4: 42,957,126		probably null	Het
Dusp10	G	T	1: 184,037,056	C73F	probably damaging	Homo
E4f1	CCG	CCGACG	17: 24,455,192		probably benign	Homo
Eif3a	TTA	TTATTATA	19: 60,775,289		probably benign	Het
Fam81b	TTC	TTCGTC	13: 76,271,319		probably benign	Het
Fbxo22	G	A	9: 55,209,382	R56H	probably damaging	Het
Fcgr1	T	C	3: 96,287,094	D159G	probably benign	Homo
Fcgr1	CTTCT	C	3: 96,284,504		probably null	Het
Fmn1	CCTCCT	CCTCCTACTCCT	2: 113,525,778		probably benign	Het
Fmn1	CC	CCCCCTGC	2: 113,525,781		probably benign	Het
Fmn1	CC	CCTCCTTC	2: 113,525,784		probably benign	Het
G530012D18Rik	GA	GACAGAGATA	1: 85,577,178		probably null	Het
Gli3	G	A	13: 15,644,357	R248H	probably damaging	Het
Gm16503	G	A	4: 147,541,253	G68E	unknown	Het
Gm19345	GGATGGCAGGTG	GG	7: 19,857,602		probably null	Het
Gm4340	GCA	GCAACA	10: 104,196,077		probably benign	Het
Gm4340	AGC	AGCTGC	10: 104,196,097		probably benign	Het
Gm4340	AG	AGCGG	10: 104,196,100		probably benign	Het
Gm6309	C	T	5: 146,168,183	V307I	probably benign	Het
Gpatch11	AAGAGG	AAGAGGCAGAGG	17: 78,842,171		probably benign	Het
Gpatch11	AGGAA	AGGAAGCGGAA	17: 78,842,180		probably benign	Het
Hoxa10	T	A	6: 52,234,186	Q250L	possibly damaging	Homo
Hrh1	T	C	6: 114,481,123	I455T	possibly damaging	Het
Hspa1b	GCGCC	GC	17: 34,957,129		probably benign	Homo
Iba57	GAAA	GAAAAA	11: 59,161,505		probably null	Homo
Igf1r	TGGAGC	TGGAGCTGGAGAGGGAGC	7: 68,226,181		probably benign	Het
Il17rd	CGG	CGGAGG	14: 27,082,680		probably benign	Het
Il2	AGGTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG	AGCTGCTGCTGCTGCTGCTGCTGCTG	3: 37,125,764		probably benign	Het
Il2	TGG	TGGGGCTTGAAGCGG	3: 37,125,828		probably benign	Het
Kcng4	G	T	8: 119,633,519	Y39*	probably null	Homo
Klra2	G	GAAATCCACAT	6: 131,221,852		probably null	Het
Kmt2b	TCCTCC	TCCTCCCCCTCC	7: 30,586,366		probably benign	Het
Kmt2b	CCTCCT	CCTCCTTCTCCT	7: 30,586,367		probably benign	Het
Kmt2b	CCTCCT	CCTCCTGCTCCT	7: 30,586,370		probably benign	Het
Kmt2b	TCCTCC	TCCTCCCCCTCC	7: 30,586,378		probably benign	Het
Krt10	TCCGCC	TCCGCCGCC	11: 99,386,197		probably benign	Homo
Krt10	TCC	TCCTCCACC	11: 99,389,279		probably benign	Homo
Krt10	TCCTCC	TCCTCCGCCTCC	11: 99,389,273		probably benign	Het
Krtap28-10	TCCCACA	TCCCACACCCACA	1: 83,042,123		probably benign	Homo
Krtap4-2	A	ACAC	11: 99,635,013		probably benign	Het
Krtap9-3	AC	ACAGGTGTCGC	11: 99,598,004		probably benign	Het
Las1l	AGG	AGGGGG	X: 95,940,821		probably benign	Het
Las1l	AGG	AGGCGG	X: 95,940,827		probably benign	Het
Las1l	GAG	GAGCAG	X: 95,940,829		probably benign	Het
Lrit3	AC	ACATTC	3: 129,803,913		probably null	Homo
Lrit3	TGC	TGCAGC	3: 129,788,806		probably benign	Het
Lrit3	GCT	GCTTCT	3: 129,788,810		probably benign	Het
Luzp1	A	AGGTGGCCTCTTCAGT	4: 136,543,196		probably benign	Het
Mamld1	AGC	AGCCGC	X: 71,118,835		probably benign	Het
Mamld1	GCA	GCAACA	X: 71,118,839		probably benign	Het
Mapk8ip3	G	A	17: 24,902,119		probably null	Homo
Mbd1	TGTCTGCATCTGCGTCTTCGTCTGCATCTGCATCTGCGTCTTCGTCTGCATCTGCATCTGC	TATCTGCATCTGCGTCTTCGTCTGCATCTGCATCTGC	18: 74,273,573		probably benign	Het
Nat8f2	T	A	6: 85,867,686	L231F	possibly damaging	Homo
Nfxl1	CC	CCGGGGAC	5: 72,559,121		probably benign	Het
Noc2l	GCT	GCTTCT	4: 156,240,094		probably benign	Het
Noc2l	CTG	CTGTTG	4: 156,240,095		probably benign	Het
Noc2l	GGTAG	GG	4: 156,241,501		probably benign	Homo
Nxpe5	C	T	5: 138,229,934		probably benign	Het
Olfr1038-ps	CAG	CAGAG	2: 86,122,760		probably null	Homo
Olfr418	GGGCTGCTTGTGGCAAT	G	1: 173,270,630		probably null	Het
Olfr568	CT	CTAATTGCCTT	7: 102,877,233		probably benign	Homo
Olfr644	G	C	7: 104,071,292		probably benign	Homo
Olfr890	A	G	9: 38,143,188	I13V	probably benign	Homo
Osmr	C	CTCA	15: 6,837,706		probably null	Homo
Patl2	CTG	CTGTTG	2: 122,126,136		probably benign	Het
Patl2	GC	GCTAC	2: 122,126,144		probably null	Het
Patl2	C	CTGA	2: 122,126,145		probably benign	Het
Pdik1l	ACCACC	ACCACCCCCACC	4: 134,279,506		probably benign	Het
Pdik1l	GTTTTTGTTTT	GTTTTTGTTTTTTTTTTGTTTT	4: 134,279,367		probably null	Homo
Phc1	GCTG	GCTGCTTCTG	6: 122,323,598		probably benign	Het
Piezo1	G	A	8: 122,495,569	R503W	probably damaging	Homo
Pitrm1	TTTTA	T	13: 6,560,596		probably benign	Homo
Pkdrej	TG	TGGGAGCG	15: 85,819,680		probably benign	Homo
Pla2g4e	AGGG	A	2: 120,244,724		probably benign	Homo
Plekhs1	AC	ACCTCCCCCGAGCC	19: 56,479,863		probably benign	Het
Pnmal1	CCTCATGATGCACCTGCTTCAACATC	CCTCATGATGCACCTGCTTCAACATCTCATGATGCACCTGCTTCAACATC	7: 16,961,425		probably benign	Homo
Pnmal2	TGGA	T	7: 16,946,006		probably benign	Het
Ppp1r3f	C	A	X: 7,560,336	G562V	probably damaging	Homo
Prr13	CTC	CTCATC	15: 102,462,173		probably benign	Het
Prss41	CACA	C	17: 23,844,097		probably benign	Het
Prtg	GTAAC	G	9: 72,857,081		probably benign	Het
Ptk2b	C	T	14: 66,173,849	R411Q	possibly damaging	Homo
Ptms	TCT	TCTGCT	6: 124,914,457		probably benign	Homo
Ptms	TTC	TTCGTC	6: 124,914,459		probably benign	Homo
Ptms	C	CTTG	6: 124,914,461		probably benign	Homo
Ptpn23	G	T	9: 110,387,633	P1052T	probably benign	Homo
Rab3il1	C	A	19: 10,033,751	A264E	probably damaging	Homo
Rbm6	GCTGT	G	9: 107,782,755		probably null	Homo
Rtbdn	TAG	TAGGGGCAG	8: 84,956,161		probably benign	Het
Rtbdn	AGCG	AGCGTCCGCG	8: 84,956,168		probably benign	Het
Rtbdn	CGGC	CGGCAGGGGC	8: 84,956,176		probably benign	Het
Rtbdn	GGC	GGCAGCTGC	8: 84,956,177		probably benign	Het
Sbp	CAAAG	CAAAGCTGCTGACAAAAAAG	17: 23,945,382		probably benign	Het
Sbp	G	GCTGACAACAAAGATC	17: 23,945,389		probably benign	Het
Setd1a	GTGGTAGTG	GTGGTAGTGTTGGTAGTG	7: 127,785,312		probably benign	Het
Sfswap	GCCCACTC	GCCCACTCATCCCACTC	5: 129,569,756		probably benign	Het
Six3	GGC	GGCAGC	17: 85,621,357		probably benign	Het
Six3	GCG	GCGCCG	17: 85,621,358		probably benign	Het
Six3	CGG	CGGGGG	17: 85,621,362		probably benign	Het
Six3	GGC	GGCAGC	17: 85,621,363		probably benign	Het
Six3	CGG	CGGGGG	17: 85,621,365		probably benign	Het
Six3	CGG	CGGGGG	17: 85,621,368		probably benign	Het
Slc12a1	ACC	ACCTTTGGCCACAACTCC	2: 125,154,214		probably benign	Homo
Smarca2	CAGCAGCAGCAGCAGCAGCA	CAGCAGCAGCAGCAGCAGCAGCAGCA	19: 26,630,999		probably benign	Homo
Spaca1	TCGCTC	TCGCTCGCGCTC	4: 34,049,836		probably benign	Het
Spag1	TTC	TTCGTC	15: 36,197,733		probably benign	Het
Spag17	AGG	AGGCGG	3: 100,056,257		probably benign	Het
Srebf2	G	T	15: 82,185,335	A693S	probably damaging	Homo
Srpk2	T	C	5: 23,545,196		probably null	Homo
Sry	GTG	GTGTTG	Y: 2,662,837		probably benign	Homo
Sry	TGG	TGGGGG	Y: 2,662,838		probably benign	Homo
Sry	AACTGCT	A	Y: 2,663,195		probably benign	Het
St5	CACCACACTGGGGCAGCCCACACTGGGGCAG	CCCCACACTGGGGCAG	7: 109,556,921		probably benign	Het
Stard9	C	CTAAGGGACTAGTAGG	2: 120,696,085		probably benign	Het
Supt20	GCAGCA	GCAGCAACAGCA	3: 54,727,657		probably benign	Het
Supt20	CAGCAG	CAGCAGGAGCAG	3: 54,727,658		probably benign	Het
Supt20	CAGCAG	CAGCAGAAGCAG	3: 54,727,661		probably benign	Het
Tcof1	GGGTA	G	18: 60,828,650		probably benign	Homo
Tdpoz3	A	C	3: 93,826,674	N219H	probably benign	Het
Tesk1	C	CCCCG	4: 43,447,004		probably null	Homo
Tob1	CACA	CACAACA	11: 94,214,451		probably benign	Het
Tob1	GCA	GCAACA	11: 94,214,464		probably benign	Het
Tob1	A	AGCC	11: 94,214,478		probably benign	Het
Trav15-2-dv6-2	AG	AGAGG	14: 53,649,756		probably benign	Homo
Trav15-2-dv6-2	G	GAAA	14: 53,649,757		probably benign	Homo
Trim63	GAGT	G	4: 134,327,725		probably benign	Het
Tsen2	G	GAGA	6: 115,560,077		probably benign	Het
Ttf2	TC	TCCCC	3: 100,963,160		probably benign	Homo
Tusc1	ACCGCC	ACCGCCCCCGCC	4: 93,335,313		probably benign	Homo
Ubqlnl	TGAG	T	7: 104,149,835		probably benign	Homo
Vps13b	G	T	15: 35,846,957	A2629S	probably damaging	Homo
Wasf3	G	T	5: 146,470,250	R460L	probably damaging	Het
Zc3h13	ATGTGCGAG	ATGTGCGAGGTGTGCGAG	14: 75,323,596		probably benign	Homo
Zc3h13	TGCGAGATG	TGCGAGATGAGCGAGATG	14: 75,323,599		probably benign	Homo
Zfhx3	GCAACA	GCAACAACAACAACA	8: 108,956,088		probably benign	Het
Zfhx3	AGCA	AGCAACAGACGCA	8: 108,956,102		probably benign	Het
Zfhx3	GCA	GCAACAGCACCA	8: 108,956,103		probably benign	Het
Zfp111	TCA	TCAACA	7: 24,199,805		probably benign	Homo
Zfp112	CATGA	CATGATGA	7: 24,125,407		probably benign	Homo
Zfp26	C	A	9: 20,438,546	A241S	probably benign	Homo
Zfp282	CGG	CGGGGG	6: 47,904,790		probably benign	Het
Zfp282	CGG	CGGGGG	6: 47,904,799		probably benign	Het
Zfp335	CTC	CTCGTC	2: 164,907,474		probably benign	Het
Zfp335	TCC	TCCGCC	2: 164,907,475		probably benign	Het
Zfp335	TC	TCCCC	2: 164,907,484		probably benign	Het
Zfp462	CCACC	CCACCTCAGCCACAGTCACC	4: 55,009,758		probably benign	Het
Zfp462	ACC	ACCTCAGCCACAGTCGCC	4: 55,009,760		probably benign	Het
Zfp598	ACCACC	ACCACCCCCACC	17: 24,680,776		probably benign	Het
Zfp598	ACCACC	ACCACCGCCACC	17: 24,680,782		probably benign	Het
Zfp598	AC	ACCACCGC	17: 24,680,791		probably benign	Het
Zfp831	TCC	TCCCCC	2: 174,645,471		probably benign	Het
Zfp831	CTC	CTCATC	2: 174,645,476		probably benign	Het
Zfp831	TC	TCCGC	2: 174,645,483		probably benign	Het
Zfp93	CAGGCATAG	CAG	7: 24,275,389		probably benign	Homo
Zscan10	TGACG	TG	17: 23,609,445		probably benign	Homo

Other mutations in Ubtf

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01066:Ubtf	APN	11	102308884	splice site	probably benign
IGL02168:Ubtf	APN	11	102314168	missense	probably damaging	0.99
IGL02218:Ubtf	APN	11	102306700	nonsense	probably null
FR4304:Ubtf	UTSW	11	102306956	small insertion	probably benign
FR4304:Ubtf	UTSW	11	102306958	small insertion	probably benign
FR4340:Ubtf	UTSW	11	102306950	small insertion	probably benign
FR4342:Ubtf	UTSW	11	102306956	small insertion	probably benign
FR4342:Ubtf	UTSW	11	102306959	small insertion	probably benign
FR4449:Ubtf	UTSW	11	102306948	nonsense	probably null
FR4548:Ubtf	UTSW	11	102306958	small insertion	probably benign
FR4589:Ubtf	UTSW	11	102306943	small insertion	probably benign
FR4589:Ubtf	UTSW	11	102306945	small insertion	probably benign
FR4737:Ubtf	UTSW	11	102306950	small insertion	probably benign
FR4976:Ubtf	UTSW	11	102306959	small insertion	probably benign
PIT4504001:Ubtf	UTSW	11	102306682	missense	unknown
R0919:Ubtf	UTSW	11	102309777	splice site	probably benign
R1023:Ubtf	UTSW	11	102311450	missense	possibly damaging	0.93
R1641:Ubtf	UTSW	11	102310931	missense	probably damaging	1.00
R1678:Ubtf	UTSW	11	102308978	missense	probably benign	0.01
R1780:Ubtf	UTSW	11	102314918	missense	probably damaging	1.00
R2406:Ubtf	UTSW	11	102308702	nonsense	probably null
R4574:Ubtf	UTSW	11	102306765	unclassified	probably benign
R4986:Ubtf	UTSW	11	102314174	missense	probably benign	0.03
R5057:Ubtf	UTSW	11	102307087	missense	probably damaging	0.96
R5217:Ubtf	UTSW	11	102308302	missense	probably null	0.91
R5221:Ubtf	UTSW	11	102307990	nonsense	probably null
R5532:Ubtf	UTSW	11	102308959	missense	probably benign	0.00
R5634:Ubtf	UTSW	11	102310324	missense	probably damaging	1.00
R6185:Ubtf	UTSW	11	102314023	missense	probably damaging	1.00
R7028:Ubtf	UTSW	11	102314980	missense	probably benign	0.03
R7450:Ubtf	UTSW	11	102306649	missense	unknown
R7596:Ubtf	UTSW	11	102306707	missense	unknown
R7601:Ubtf	UTSW	11	102306654	missense	unknown
R8376:Ubtf	UTSW	11	102308911	missense	probably damaging	1.00
R8934:Ubtf	UTSW	11	102314029	missense	probably damaging	0.98
R8947:Ubtf	UTSW	11	102314976	missense	possibly damaging	0.67
R9102:Ubtf	UTSW	11	102310189	critical splice donor site	probably null
R9395:Ubtf	UTSW	11	102314200	missense	probably damaging	1.00
R9701:Ubtf	UTSW	11	102308892	critical splice donor site	probably null
RF027:Ubtf	UTSW	11	102306945	small insertion	probably benign
RF036:Ubtf	UTSW	11	102306945	small insertion	probably benign
RF041:Ubtf	UTSW	11	102306945	small insertion	probably benign

Predicted Primers

PCR Primer
(F):5'- TCTGGGAGAATAAAGACCCCAC -3'
(R):5'- CCATCCTTTCTGTCAGAAACGTAAG -3'

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

Posted On

2018-04-05