Mutagenetix > Incidental Mutation

Incidental Mutation 'R4491:Taf1'

330757

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

MMRRC Submission

041747-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.947) question?

Stock #

R4491 (G1)

Quality Score

222

Status

Validated

Chromosome

Chromosomal Location

100576335-100644635 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 100586665 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Isoleucine at position 313 (M313I)

Ref Sequence

ENSEMBL: ENSMUSP00000098895 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

possibly damaging
Transcript: ENSMUST00000101341
AA Change: M313I

PolyPhen 2 Score 0.933 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000098895
Gene: ENSMUSG00000031314
AA Change: M313I

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

possibly damaging
Transcript: ENSMUST00000118878
AA Change: M313I

PolyPhen 2 Score 0.889 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000112772
Gene: ENSMUSG00000031314
AA Change: M313I

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

probably benign
Transcript: ENSMUST00000143908
AA Change: M334I

PolyPhen 2 Score 0.030 (Sensitivity: 0.95; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000138159
Gene: ENSMUSG00000031314
AA Change: M334I

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

possibly damaging
Transcript: ENSMUST00000149274
AA Change: M334I

PolyPhen 2 Score 0.678 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000114765
Gene: ENSMUSG00000031314
AA Change: M334I

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

Meta Mutation Damage Score

0.0921

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.1%
20x: 94.8%

Validation Efficiency

98% (64/65)

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: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
0610040J01Rik	C	A	5: 64,055,812 (GRCm39)	P183T	probably damaging	Het
Bcan	G	A	3: 87,897,540 (GRCm39)	R682*	probably null	Het
Bzw1	T	A	1: 58,443,418 (GRCm39)	L410Q	probably damaging	Het
Cdh5	A	T	8: 104,839,672 (GRCm39)	I48F	probably damaging	Het
Cdhr5	T	C	7: 140,853,970 (GRCm39)	N173D	possibly damaging	Het
Cfap74	T	C	4: 155,513,628 (GRCm39)	M480T	probably benign	Het
Col6a5	C	T	9: 105,817,211 (GRCm39)	A367T	unknown	Het
Cpsf1	A	C	15: 76,481,922 (GRCm39)	Y1064D	possibly damaging	Het
Defb6	A	T	8: 19,278,090 (GRCm39)	H54L	probably benign	Het
Dmtf1	A	G	5: 9,190,379 (GRCm39)		probably benign	Het
Dnah12	T	C	14: 26,455,758 (GRCm39)	L827S	possibly damaging	Het
Dnai4	T	C	4: 102,923,596 (GRCm39)	E411G	probably benign	Het
Dsc3	T	C	18: 20,134,922 (GRCm39)	T21A	probably benign	Het
Epb41l1	G	T	2: 156,364,088 (GRCm39)	D866Y	probably benign	Het
Epha1	T	C	6: 42,337,600 (GRCm39)	M860V	probably damaging	Het
Far2	T	C	6: 148,074,907 (GRCm39)	L380P	possibly damaging	Het
Fgd5	A	G	6: 91,966,280 (GRCm39)	I680V	possibly damaging	Het
Fnbp4	T	C	2: 90,583,312 (GRCm39)		probably null	Het
Focad	G	A	4: 88,278,142 (GRCm39)		probably null	Het
Gm14180	T	A	11: 99,621,139 (GRCm39)		probably benign	Het
Hbb-bh2	T	C	7: 103,489,622 (GRCm39)	T5A	probably benign	Het
Ighv7-2	A	G	12: 113,876,100 (GRCm39)	F2L	probably benign	Het
Igsf5	A	G	16: 96,165,281 (GRCm39)	T19A	probably benign	Het
Kcnd3	C	T	3: 105,566,082 (GRCm39)	A421V	probably damaging	Het
Klb	A	G	5: 65,533,137 (GRCm39)	N482S	probably benign	Het
Lipo2	A	C	19: 33,699,100 (GRCm39)	L310R	probably damaging	Het
Mc3r	A	G	2: 172,091,123 (GRCm39)	H115R	possibly damaging	Het
Meioc	A	G	11: 102,565,746 (GRCm39)	D398G	possibly damaging	Het
Or10ag60	G	A	2: 87,437,736 (GRCm39)	M1I	probably null	Het
Or56a5	A	T	7: 104,792,983 (GRCm39)	C172*	probably null	Het
Or7a37	T	C	10: 78,806,151 (GRCm39)	S223P	probably damaging	Het
Pds5a	T	C	5: 65,792,780 (GRCm39)	T718A	probably benign	Het
Pdzd2	C	T	15: 12,385,723 (GRCm39)	D1016N	possibly damaging	Het
Pla2g2c	T	C	4: 138,461,719 (GRCm39)		probably null	Het
Plch1	T	C	3: 63,648,160 (GRCm39)	I404V	probably damaging	Het
Pou2af3	A	G	9: 51,181,955 (GRCm39)	F206L	probably benign	Het
Ppp2r5c	A	T	12: 110,546,956 (GRCm39)	D522V	possibly damaging	Het
Prex2	T	A	1: 11,232,487 (GRCm39)	S851R	probably benign	Het
Rapgef1	C	T	2: 29,609,668 (GRCm39)	P702S	possibly damaging	Het
Rasal3	T	A	17: 32,610,359 (GRCm39)	D976V	probably damaging	Het
Rasef	A	C	4: 73,652,740 (GRCm39)	L587R	probably damaging	Het
Rptn	A	T	3: 93,303,818 (GRCm39)	R384*	probably null	Het
Sema6a	G	A	18: 47,439,524 (GRCm39)		probably benign	Het
Sycp2	G	T	2: 178,016,778 (GRCm39)	T608K	probably damaging	Het
Syde1	C	T	10: 78,426,062 (GRCm39)	R35H	probably benign	Het
Taf15	A	T	11: 83,375,520 (GRCm39)	T31S	probably benign	Het
Tktl2	T	C	8: 66,964,664 (GRCm39)	V74A	probably damaging	Het
Tle4	A	G	19: 14,432,229 (GRCm39)	V489A	probably damaging	Het
Tmem30a	T	C	9: 79,684,567 (GRCm39)	H95R	probably damaging	Het
Trmt9b	G	A	8: 36,972,760 (GRCm39)	C70Y	probably damaging	Het
Vmn1r75	C	A	7: 11,614,909 (GRCm39)	Q214K	probably damaging	Het
Vps13c	C	T	9: 67,817,475 (GRCm39)	T1049M	probably benign	Het
Zfp37	T	C	4: 62,110,365 (GRCm39)	Q274R	probably benign	Het
Zfp648	T	G	1: 154,080,873 (GRCm39)	L344R	probably 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
R1867:Taf1	UTSW	X	100,606,563 (GRCm39)	missense	probably damaging	1.00
R4242:Taf1	UTSW	X	100,588,109 (GRCm39)	missense	probably benign
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'- AGGCAGAGTTGATGATGCTAC -3'
(R):5'- CCAGAGTTGCTTACCTTCATTATG -3'

Sequencing Primer
(F):5'- CAGAGTTGATGATGCTACATTGC -3'
(R):5'- TTGTAGATTCATGTTCAGTCTTCTTC -3'

Posted On

2015-07-21