Mutagenetix > Incidental Mutation

Incidental Mutation 'R4582:Taf1'

343762

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

041803-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.947) question?

Stock #

R4582 (G1)

Quality Score

222

Status

Not validated

Chromosome

Chromosomal Location

100576335-100644635 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 100637601 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 1696 (V1696A)

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: V1696A

PolyPhen 2 Score 0.507 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000098895
Gene: ENSMUSG00000031314
AA Change: V1696A

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 benign
Transcript: ENSMUST00000118878
AA Change: V1664A

PolyPhen 2 Score 0.129 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000112772
Gene: ENSMUSG00000031314
AA Change: V1664A

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

noncoding transcript
Transcript: ENSMUST00000140470

Predicted Effect

probably benign
Transcript: ENSMUST00000143908
AA Change: V1685A

PolyPhen 2 Score 0.037 (Sensitivity: 0.94; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000138159
Gene: ENSMUSG00000031314
AA Change: V1685A

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: V1687A

PolyPhen 2 Score 0.037 (Sensitivity: 0.94; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000114765
Gene: ENSMUSG00000031314
AA Change: V1687A

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000211461

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.1%
20x: 94.7%

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: 42 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abra	A	T	15: 41,732,681 (GRCm39)	D128E	probably benign	Het
Akap11	A	T	14: 78,749,369 (GRCm39)	V1006E	possibly damaging	Het
Ankrd7	T	A	6: 18,868,020 (GRCm39)	N95K	probably damaging	Het
Brd9	T	C	13: 74,095,852 (GRCm39)	F366L	probably benign	Het
Brinp2	A	G	1: 158,095,508 (GRCm39)	F118L	probably damaging	Het
Ccdc138	T	C	10: 58,343,465 (GRCm39)		probably null	Het
Celsr3	T	C	9: 108,722,922 (GRCm39)	F189L	probably damaging	Het
Cfap45	A	G	1: 172,357,479 (GRCm39)	T36A	probably benign	Het
Clec4a1	G	T	6: 122,909,150 (GRCm39)	V173L	possibly damaging	Het
Col6a5	G	A	9: 105,739,963 (GRCm39)	T2552I	probably benign	Het
Dcaf15	A	G	8: 84,824,598 (GRCm39)	V533A	probably damaging	Het
Dhrs9	A	T	2: 69,227,997 (GRCm39)	I204F	probably damaging	Het
Dock7	A	G	4: 98,892,153 (GRCm39)	V811A	possibly damaging	Het
Eef1akmt1	T	C	14: 57,787,905 (GRCm39)	D151G	probably damaging	Het
Eif4g3	G	A	4: 137,898,556 (GRCm39)	R1109H	probably damaging	Het
Gtpbp10	T	C	5: 5,592,395 (GRCm39)	T191A	possibly damaging	Het
Hectd4	A	G	5: 121,424,482 (GRCm39)	N714S	possibly damaging	Het
Lima1	T	C	15: 99,678,873 (GRCm39)	T523A	possibly damaging	Het
Lipe	A	G	7: 25,097,127 (GRCm39)	L272P	probably benign	Het
Llgl2	A	G	11: 115,741,532 (GRCm39)	E554G	possibly damaging	Het
Lrrc66	T	C	5: 73,765,580 (GRCm39)	S488G	possibly damaging	Het
Man2a1	C	T	17: 65,059,494 (GRCm39)	A1127V	probably benign	Het
Naglu	A	T	11: 100,962,755 (GRCm39)	I187F	probably damaging	Het
Nt5c1b	T	A	12: 10,440,054 (GRCm39)	M548K	probably damaging	Het
Or10ak14	A	T	4: 118,611,090 (GRCm39)	I217N	probably damaging	Het
Or6c38	A	T	10: 128,929,027 (GRCm39)	V272E	possibly damaging	Het
Pcdha3	T	C	18: 37,080,485 (GRCm39)	V409A	probably benign	Het
Pde6b	A	T	5: 108,573,097 (GRCm39)		probably null	Het
Pkd2	A	T	5: 104,650,210 (GRCm39)	K857*	probably null	Het
Rfx4	T	A	10: 84,680,164 (GRCm39)	S114T	possibly damaging	Het
Sacs	G	A	14: 61,429,147 (GRCm39)	G402D	probably damaging	Het
Slc22a5	C	T	11: 53,782,035 (GRCm39)	E111K	probably damaging	Het
Sptbn1	G	A	11: 30,169,597 (GRCm39)	R44C	probably damaging	Het
Tm9sf3	C	A	19: 41,244,605 (GRCm39)	G91C	probably damaging	Het
Tmie	T	G	9: 110,702,865 (GRCm39)	E32A	probably benign	Het
Top2b	T	G	14: 16,409,189 (GRCm38)	I777M	probably damaging	Het
Tsga13	A	T	6: 30,879,298 (GRCm39)	N138K	probably benign	Het
Ttc7b	G	A	12: 100,466,376 (GRCm39)	R79C	probably damaging	Het
Ugt1a10	A	T	1: 87,983,463 (GRCm39)	D87V	possibly damaging	Het
Vdac3-ps1	A	T	13: 18,206,177 (GRCm39)		noncoding transcript	Het
Vmn1r29	A	C	6: 58,285,017 (GRCm39)	I246L	probably damaging	Het
Zbtb16	A	G	9: 48,743,382 (GRCm39)	V310A	probably benign	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
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
Z1176:Taf1	UTSW	X	100,639,850 (GRCm39)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- GATGCCAGTCTGCTAGAGTG -3'
(R):5'- GACTAAAGGATCCAGTCATTTTCC -3'

Sequencing Primer
(F):5'- ATTTGTGTAAAAAGCTGTACCGGGC -3'
(R):5'- TCCATATATACATGGGATCACTCCG -3'

Posted On

2015-09-24