Mutagenetix > Incidental Mutation

Incidental Mutation 'R1867:Taf1'

208895

Institutional Source

Beutler Lab

Gene Symbol

Taf1

Ensembl Gene

ENSMUSG00000031314

Gene Name

TATA-box binding protein associated factor 1

Synonyms

Ccg1, B430306D02Rik, KAT4, Ccg-1, Taf2a

Accession Numbers

Essential gene?

Probably essential (E-score: 0.947) question?

Stock #

R1867 (G1)

Quality Score

222

Status

Not validated

Chromosome

Chromosomal Location

100576335-100644635 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 100606563 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Arginine at position 1254 (M1254R)

Ref Sequence

ENSEMBL: ENSMUSP00000112772 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000101341] [ENSMUST00000118878] [ENSMUST00000143908] [ENSMUST00000149274]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000101341
AA Change: M1286R

PolyPhen 2 Score 0.013 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000098895
Gene: ENSMUSG00000031314
AA Change: M1286R

Domain	Start	End	E-Value	Type
Pfam:TBP-binding	23	86	3.1e-25	PFAM
low complexity region	138	153	N/A	INTRINSIC
low complexity region	157	165	N/A	INTRINSIC
low complexity region	183	191	N/A	INTRINSIC
low complexity region	259	267	N/A	INTRINSIC
low complexity region	549	565	N/A	INTRINSIC
Pfam:DUF3591	592	1055	6.7e-171	PFAM
low complexity region	1111	1123	N/A	INTRINSIC
coiled coil region	1132	1168	N/A	INTRINSIC
coiled coil region	1244	1277	N/A	INTRINSIC
Pfam:zf-CCHC_6	1293	1332	1e-18	PFAM
low complexity region	1373	1390	N/A	INTRINSIC
BROMO	1410	1518	6.27e-32	SMART
BROMO	1532	1641	1.42e-39	SMART
low complexity region	1655	1666	N/A	INTRINSIC
low complexity region	1668	1679	N/A	INTRINSIC
low complexity region	1720	1734	N/A	INTRINSIC
low complexity region	1751	1767	N/A	INTRINSIC
low complexity region	1775	1789	N/A	INTRINSIC
low complexity region	1856	1866	N/A	INTRINSIC
low complexity region	1880	1888	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000118878
AA Change: M1254R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000112772
Gene: ENSMUSG00000031314
AA Change: M1254R

Domain	Start	End	E-Value	Type
Pfam:TBP-binding	22	87	1.4e-26	PFAM
low complexity region	138	153	N/A	INTRINSIC
low complexity region	157	165	N/A	INTRINSIC
low complexity region	183	191	N/A	INTRINSIC
low complexity region	259	267	N/A	INTRINSIC
low complexity region	522	538	N/A	INTRINSIC
Pfam:DUF3591	565	1028	5.1e-158	PFAM
low complexity region	1084	1096	N/A	INTRINSIC
coiled coil region	1105	1136	N/A	INTRINSIC
coiled coil region	1212	1245	N/A	INTRINSIC
Pfam:zf-CCHC_6	1261	1300	1.2e-17	PFAM
low complexity region	1341	1358	N/A	INTRINSIC
BROMO	1378	1486	6.27e-32	SMART
BROMO	1500	1609	1.42e-39	SMART
low complexity region	1623	1634	N/A	INTRINSIC
low complexity region	1636	1647	N/A	INTRINSIC
low complexity region	1688	1702	N/A	INTRINSIC
low complexity region	1719	1735	N/A	INTRINSIC
low complexity region	1743	1757	N/A	INTRINSIC
low complexity region	1824	1834	N/A	INTRINSIC
low complexity region	1848	1856	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000129487

Predicted Effect

probably benign
Transcript: ENSMUST00000143908
AA Change: M1275R

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000138159
Gene: ENSMUSG00000031314
AA Change: M1275R

Domain	Start	End	E-Value	Type
Pfam:TBP-binding	22	87	3.1e-27	PFAM
low complexity region	138	153	N/A	INTRINSIC
low complexity region	157	165	N/A	INTRINSIC
low complexity region	185	212	N/A	INTRINSIC
low complexity region	280	288	N/A	INTRINSIC
low complexity region	543	559	N/A	INTRINSIC
Pfam:DUF3591	586	1049	7.1e-159	PFAM
low complexity region	1105	1117	N/A	INTRINSIC
coiled coil region	1126	1157	N/A	INTRINSIC
coiled coil region	1233	1266	N/A	INTRINSIC
Pfam:zf-CCHC_6	1282	1321	4.4e-18	PFAM
low complexity region	1362	1379	N/A	INTRINSIC
BROMO	1399	1507	6.27e-32	SMART
BROMO	1521	1630	1.42e-39	SMART
low complexity region	1644	1655	N/A	INTRINSIC
low complexity region	1657	1668	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000149274
AA Change: M1275R

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000114765
Gene: ENSMUSG00000031314
AA Change: M1275R

Domain	Start	End	E-Value	Type
Pfam:TBP-binding	22	87	8.3e-28	PFAM
low complexity region	138	153	N/A	INTRINSIC
low complexity region	157	165	N/A	INTRINSIC
low complexity region	185	212	N/A	INTRINSIC
low complexity region	280	288	N/A	INTRINSIC
low complexity region	543	559	N/A	INTRINSIC
Pfam:DUF3591	586	710	1.5e-28	PFAM

Coding Region Coverage

1x: 97.3%
3x: 96.8%
10x: 95.3%
20x: 92.8%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Initiation of transcription by RNA polymerase II requires the activities of more than 70 polypeptides. The protein that coordinates these activities is the basal transcription factor TFIID, which binds to the core promoter to position the polymerase properly, serves as the scaffold for assembly of the remainder of the transcription complex, and acts as a channel for regulatory signals. TFIID is composed of the TATA-binding protein (TBP) and a group of evolutionarily conserved proteins known as TBP-associated factors or TAFs. TAFs may participate in basal transcription, serve as coactivators, function in promoter recognition or modify general transcription factors (GTFs) to facilitate complex assembly and transcription initiation. This gene encodes the largest subunit of TFIID. This subunit binds to core promoter sequences encompassing the transcription start site. It also binds to activators and other transcriptional regulators, and these interactions affect the rate of transcription initiation. This subunit contains two independent protein kinase domains at the N- and C-terminals, but also possesses acetyltransferase activity and can act as a ubiquitin-activating/conjugating enzyme. Mutations in this gene result in Dystonia 3, torsion, X-linked, a dystonia-parkinsonism disorder. Alternative splicing of this gene results in multiple transcript variants. This gene is part of a complex transcription unit (TAF1/DYT3), wherein some transcript variants share exons with TAF1 as well as additional downstream DYT3 exons. [provided by RefSeq, Oct 2013]

Allele List at MGI

Other mutations in this stock

Total: 102 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9130230L23Rik	A	T	5: 66,157,560 (GRCm39)	M1K	probably null	Het
Abca4	T	A	3: 121,899,010 (GRCm39)	I664N	probably damaging	Het
Acin1	T	C	14: 54,881,718 (GRCm39)	D335G	probably damaging	Het
Acoxl	A	G	2: 127,719,707 (GRCm39)	Y156C	probably damaging	Het
Adamts20	A	G	15: 94,236,340 (GRCm39)	F844L	probably benign	Het
Ago1	A	G	4: 126,335,029 (GRCm39)	Y398H	probably damaging	Het
Aldob	A	G	4: 49,543,835 (GRCm39)	V49A	possibly damaging	Het
Arhgap18	A	G	10: 26,722,026 (GRCm39)	E71G	probably damaging	Het
Asb12	G	T	X: 94,513,950 (GRCm39)	H307N	probably damaging	Het
Atp2b1	T	C	10: 98,832,750 (GRCm39)	V417A	probably damaging	Het
AY358078	T	C	14: 52,037,504 (GRCm39)	M1T	probably null	Het
Bcl2l15	A	G	3: 103,745,914 (GRCm39)		probably null	Het
Brpf3	A	G	17: 29,026,342 (GRCm39)	M472V	probably benign	Het
Bsn	A	G	9: 107,983,918 (GRCm39)	S3379P	unknown	Het
Cap2	T	C	13: 46,793,555 (GRCm39)	V333A	probably damaging	Het
Cd207	T	A	6: 83,652,635 (GRCm39)	D165V	probably damaging	Het
Cfap210	A	T	2: 69,612,181 (GRCm39)		probably null	Het
Cmtr1	A	G	17: 29,893,148 (GRCm39)	T496A	probably benign	Het
Col14a1	T	A	15: 55,310,858 (GRCm39)		probably benign	Het
Cstb	A	G	10: 78,263,273 (GRCm39)	*99W	probably null	Het
Cstdc6	T	G	16: 36,142,148 (GRCm39)	D76A	possibly damaging	Het
Ddx11	G	A	17: 66,442,934 (GRCm39)		probably null	Het
Dip2c	T	C	13: 9,671,985 (GRCm39)	M990T	possibly damaging	Het
Epc2	A	G	2: 49,422,117 (GRCm39)	Y337C	probably damaging	Het
Fmn1	A	G	2: 113,539,783 (GRCm39)	E1326G	probably damaging	Het
Focad	A	T	4: 88,096,326 (GRCm39)	D236V	probably damaging	Het
Fsd1	G	A	17: 56,298,254 (GRCm39)	S193N	probably benign	Het
Gm4922	T	A	10: 18,660,211 (GRCm39)	R170S	possibly damaging	Het
Gm5129	T	C	5: 29,940,654 (GRCm39)		probably benign	Het
Gucy2d	T	A	7: 98,103,268 (GRCm39)	L504H	probably damaging	Het
Hspbap1	A	T	16: 35,621,934 (GRCm39)	Y93F	possibly damaging	Het
Iars2	A	T	1: 185,050,765 (GRCm39)	D441E	probably benign	Het
Il1rap	A	T	16: 26,541,676 (GRCm39)	H639L	probably damaging	Het
Inhbc	A	T	10: 127,193,416 (GRCm39)	V200E	probably benign	Het
Ints8	C	A	4: 11,241,684 (GRCm39)	C253F	probably damaging	Het
Intu	G	T	3: 40,618,765 (GRCm39)	G257V	probably damaging	Het
Kif23	C	A	9: 61,826,243 (GRCm39)	A929S	possibly damaging	Het
Kmt2b	A	T	7: 30,274,083 (GRCm39)	V2207E	possibly damaging	Het
Ksr2	A	C	5: 117,643,594 (GRCm39)	E121A	probably benign	Het
Lce1b	A	G	3: 92,563,318 (GRCm39)	S72P	unknown	Het
Lpl	TGG	TG	8: 69,349,254 (GRCm39)		probably null	Het
Mcmdc2	T	C	1: 10,001,030 (GRCm39)	V435A	probably damaging	Het
Mecom	A	G	3: 30,563,577 (GRCm39)		probably null	Het
Mier2	A	G	10: 79,384,664 (GRCm39)	V150A	probably damaging	Het
Mmp16	A	T	4: 18,116,013 (GRCm39)	D539V	probably benign	Het
Mpp1	A	G	X: 74,168,975 (GRCm39)		probably null	Het
Mpp2	C	T	11: 101,955,493 (GRCm39)	E86K	probably benign	Het
Mtor	T	A	4: 148,539,089 (GRCm39)	F195L	probably damaging	Het
Myo3a	T	C	2: 22,404,657 (GRCm39)	I663T	probably benign	Het
Nlrp5	G	A	7: 23,123,407 (GRCm39)	G756E	possibly damaging	Het
Nudt18	T	C	14: 70,817,335 (GRCm39)	L255P	probably damaging	Het
Nup62	T	A	7: 44,478,472 (GRCm39)	S162R	possibly damaging	Het
Oosp2	C	T	19: 11,626,959 (GRCm39)		probably null	Het
Or52n20	T	A	7: 104,320,524 (GRCm39)	I205N	possibly damaging	Het
Or6c66	A	T	10: 129,461,621 (GRCm39)	I103K	probably damaging	Het
Or7g20	G	A	9: 18,946,562 (GRCm39)	A48T	probably benign	Het
Or8h7	A	G	2: 86,720,956 (GRCm39)	S188P	probably damaging	Het
Pan2	A	G	10: 128,149,050 (GRCm39)	D506G	probably damaging	Het
Pcdh9	G	A	14: 94,125,471 (GRCm39)	S233L	probably damaging	Het
Pcdhgc5	T	G	18: 37,954,471 (GRCm39)	S582A	possibly damaging	Het
Pdik1l	T	C	4: 134,006,222 (GRCm39)	D70G	probably damaging	Het
Peg12	T	C	7: 62,113,416 (GRCm39)	H227R	probably benign	Het
Pms1	C	T	1: 53,228,546 (GRCm39)	V901I	probably benign	Het
Pnisr	C	T	4: 21,874,086 (GRCm39)		probably benign	Het
Pole	A	G	5: 110,482,063 (GRCm39)	E135G	probably benign	Het
Ppp6r2	C	A	15: 89,166,141 (GRCm39)	A715E	probably benign	Het
Prickle4	T	G	17: 48,001,044 (GRCm39)	H174P	possibly damaging	Het
Prl2a1	T	C	13: 27,988,923 (GRCm39)	L16P	probably damaging	Het
Prss32	C	T	17: 24,072,868 (GRCm39)	T33M	probably benign	Het
Psmd13	C	T	7: 140,463,430 (GRCm39)	T38I	probably damaging	Het
Rai14	C	A	15: 10,633,314 (GRCm39)	Q25H	probably damaging	Het
Rbbp6	T	C	7: 122,596,252 (GRCm39)	V598A	probably damaging	Het
Rbm34	C	A	8: 127,697,631 (GRCm39)	A27S	probably benign	Het
Rbm4b	A	G	19: 4,812,331 (GRCm39)	T247A	probably benign	Het
Riiad1	G	A	3: 94,380,176 (GRCm39)	P40S	possibly damaging	Het
Sema4f	T	C	6: 82,894,824 (GRCm39)	D457G	possibly damaging	Het
Sema6c	A	T	3: 95,078,099 (GRCm39)	I492F	probably damaging	Het
Serpina3a	A	T	12: 104,084,886 (GRCm39)	I94L	probably benign	Het
Skida1	TTGCTGCTGCTGCTGCTGCTGCTGCTG	TTGCTGCTGCTGCTGCTGCTGCTG	2: 18,051,155 (GRCm39)		probably benign	Het
Slc38a1	G	A	15: 96,485,016 (GRCm39)	T221M	probably damaging	Het
Slc6a17	T	A	3: 107,379,492 (GRCm39)	M559L	probably damaging	Het
Sntg2	T	C	12: 30,286,650 (GRCm39)	N315D	probably benign	Het
Snx10	T	A	6: 51,552,890 (GRCm39)	V11E	probably damaging	Het
Spta1	A	G	1: 174,047,405 (GRCm39)	E1683G	probably benign	Het
Ssc5d	A	T	7: 4,931,506 (GRCm39)	R238W	probably damaging	Het
Ssh1	A	T	5: 114,081,512 (GRCm39)	F617L	probably damaging	Het
Tcirg1	A	G	19: 3,948,835 (GRCm39)	L450P	probably damaging	Het
Ticam1	C	A	17: 56,578,718 (GRCm39)	A126S	probably benign	Het
Tnxb	T	A	17: 34,890,821 (GRCm39)	V388E	probably damaging	Het
Tomm5	A	G	4: 45,107,939 (GRCm39)	L32P	probably damaging	Het
Ubr5	A	T	15: 38,042,090 (GRCm39)	S169T	probably benign	Het
Usp28	T	G	9: 48,920,494 (GRCm39)	D240E	probably benign	Het
Usp34	T	C	11: 23,311,593 (GRCm39)	Y462H	possibly damaging	Het
Utp14b	C	A	1: 78,643,148 (GRCm39)	Q349K	probably damaging	Het
Utp20	G	T	10: 88,585,305 (GRCm39)	D2586E	probably benign	Het
Vmn1r173	A	G	7: 23,402,660 (GRCm39)	I298M	unknown	Het
Vmn1r37	T	A	6: 66,708,461 (GRCm39)	I29K	probably benign	Het
Vmn2r23	G	A	6: 123,679,874 (GRCm39)	G32D	probably damaging	Het
Xpo7	A	T	14: 70,931,431 (GRCm39)	F296I	probably damaging	Het
Zfhx4	A	G	3: 5,477,774 (GRCm39)	E3463G	probably damaging	Het
Zfp455	G	T	13: 67,355,509 (GRCm39)	R194L	probably benign	Het
Zfp663	T	C	2: 165,194,651 (GRCm39)	T523A	possibly damaging	Het

Other mutations in Taf1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00688:Taf1	APN	X	100,606,545 (GRCm39)	missense	probably damaging	0.99
IGL01519:Taf1	APN	X	100,606,412 (GRCm39)	splice site	probably benign
R1768:Taf1	UTSW	X	100,584,500 (GRCm39)	missense	probably benign	0.37
R4242:Taf1	UTSW	X	100,588,109 (GRCm39)	missense	probably benign
R4491:Taf1	UTSW	X	100,586,665 (GRCm39)	missense	possibly damaging	0.93
R4492:Taf1	UTSW	X	100,586,665 (GRCm39)	missense	possibly damaging	0.93
R4582:Taf1	UTSW	X	100,637,601 (GRCm39)	missense	possibly damaging	0.51
Z1176:Taf1	UTSW	X	100,639,850 (GRCm39)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- CAGGGTAGTCATTCTTGATTTAAGCTG -3'
(R):5'- TTAGTCCCACTCGCTCAGAC -3'

Sequencing Primer
(F):5'- CATTCTTGATTTAAGCTGCTTATGG -3'
(R):5'- AAGTATATTGCCACTCTCTTCAGAC -3'

Posted On

2014-06-30