Mutagenetix > Incidental Mutation

Incidental Mutation 'R1768:Taf1'

194647

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

039799-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.947) question?

Stock #

R1768 (G1)

Quality Score

222

Status

Validated

Chromosome

Chromosomal Location

100576335-100644635 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 100584500 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 223 (S223P)

Ref Sequence

ENSEMBL: ENSMUSP00000138159 (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: S202P

PolyPhen 2 Score 0.059 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000098895
Gene: ENSMUSG00000031314
AA Change: S202P

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: S202P

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000112772
Gene: ENSMUSG00000031314
AA Change: S202P

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: S223P

PolyPhen 2 Score 0.366 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000138159
Gene: ENSMUSG00000031314
AA Change: S223P

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: S223P

PolyPhen 2 Score 0.252 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000114765
Gene: ENSMUSG00000031314
AA Change: S223P

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

0.0760

Coding Region Coverage

1x: 97.4%
3x: 96.9%
10x: 95.3%
20x: 92.4%

Validation Efficiency

91% (107/117)

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: 112 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4921524L21Rik	G	C	18: 6,623,470 (GRCm39)	R60P	possibly damaging	Het
Aox1	T	A	1: 58,393,354 (GRCm39)	C1199S	probably benign	Het
Arhgap18	G	A	10: 26,763,857 (GRCm39)	M482I	probably damaging	Het
Arhgap18	G	T	10: 26,763,858 (GRCm39)	A483S	probably damaging	Het
Arid4a	G	A	12: 71,122,112 (GRCm39)	S509N	probably benign	Het
BC051019	T	C	7: 109,322,381 (GRCm39)	T38A	probably benign	Het
Bcam	T	C	7: 19,499,543 (GRCm39)	N192S	probably null	Het
Bend5	A	T	4: 111,311,438 (GRCm39)	K351*	probably null	Het
Bicdl2	T	A	17: 23,884,923 (GRCm39)	M208K	probably damaging	Het
Ccp110	A	T	7: 118,325,247 (GRCm39)		probably null	Het
Cdc6	A	T	11: 98,803,043 (GRCm39)	T328S	probably damaging	Het
Cdk5rap2	G	T	4: 70,225,470 (GRCm39)	N558K	probably benign	Het
Cdkn1c	C	T	7: 143,012,858 (GRCm39)	R146K	probably benign	Het
Ceacam18	G	A	7: 43,297,918 (GRCm39)	C371Y	probably benign	Het
Cep95	T	A	11: 106,697,177 (GRCm39)	C233*	probably null	Het
Chrnd	A	G	1: 87,122,650 (GRCm39)	I144V	probably benign	Het
Col6a4	T	A	9: 105,957,299 (GRCm39)	Q175L	probably benign	Het
Cym	A	T	3: 107,120,816 (GRCm39)	V263E	probably damaging	Het
Cyp2a4	G	T	7: 26,012,197 (GRCm39)	V327F	possibly damaging	Het
Dhx29	T	A	13: 113,084,774 (GRCm39)	M664K	probably damaging	Het
Dlec1	T	G	9: 118,975,075 (GRCm39)		probably null	Het
Dna2	T	C	10: 62,792,863 (GRCm39)	Y293H	probably benign	Het
Dnase1l3	T	A	14: 7,974,104 (GRCm38)	N196Y	probably damaging	Het
Eea1	T	A	10: 95,832,822 (GRCm39)	D222E	probably damaging	Het
Efcab14	A	T	4: 115,610,116 (GRCm39)		probably null	Het
Entpd5	C	T	12: 84,432,985 (GRCm39)	R189H	probably benign	Het
Exoc4	A	T	6: 33,734,985 (GRCm39)	K534M	probably damaging	Het
Extl1	T	A	4: 134,098,449 (GRCm39)	Y194F	probably benign	Het
Eya1	A	G	1: 14,323,299 (GRCm39)	L161S	possibly damaging	Het
Fam163b	T	C	2: 27,002,874 (GRCm39)	E41G	possibly damaging	Het
Fam180a	A	C	6: 35,292,287 (GRCm39)	S40A	probably benign	Het
Fbxl4	T	C	4: 22,385,950 (GRCm39)	S186P	probably benign	Het
Fbxw19	A	T	9: 109,323,840 (GRCm39)	L45*	probably null	Het
Fgf14	G	T	14: 124,913,924 (GRCm39)	T69N	probably benign	Het
Flt1	A	G	5: 147,609,519 (GRCm39)	Y432H	probably damaging	Het
Frmd4b	A	T	6: 97,283,725 (GRCm39)	L374Q	possibly damaging	Het
G6pc2	T	A	2: 69,053,321 (GRCm39)	V125D	probably damaging	Het
Gm10033	T	C	8: 69,826,210 (GRCm39)	I119M	unknown	Het
Gna15	A	T	10: 81,347,954 (GRCm39)	L164Q	probably damaging	Het
Gnaz	C	A	10: 74,827,702 (GRCm39)	D151E	possibly damaging	Het
Has1	T	C	17: 18,070,562 (GRCm39)	T120A	probably benign	Het
Hectd4	T	A	5: 121,496,366 (GRCm39)	D3919E	possibly damaging	Het
Hs3st5	A	G	10: 36,709,165 (GRCm39)	I233M	probably benign	Het
Ilf3	T	C	9: 21,314,438 (GRCm39)		probably benign	Het
Inpp5b	T	A	4: 124,687,069 (GRCm39)	L765*	probably null	Het
Insr	A	T	8: 3,209,561 (GRCm39)	I1174N	probably damaging	Het
Kash5	T	A	7: 44,838,227 (GRCm39)		probably null	Het
Kcnq3	A	G	15: 65,877,755 (GRCm39)	L445P	probably damaging	Het
Kctd20	A	T	17: 29,181,824 (GRCm39)	N159Y	probably damaging	Het
Kctd20	A	T	17: 29,185,755 (GRCm39)	D366V	probably damaging	Het
Klk15	T	C	7: 43,587,757 (GRCm39)		probably benign	Het
Lama4	T	G	10: 38,979,497 (GRCm39)	N1658K	possibly damaging	Het
Lonrf2	G	A	1: 38,852,357 (GRCm39)	P165S	probably benign	Het
Mas1	T	C	17: 13,060,586 (GRCm39)	Y279C	probably damaging	Het
Mast2	G	T	4: 116,164,156 (GRCm39)	D1747E	probably damaging	Het
Mest	G	A	6: 30,745,138 (GRCm39)	M235I	probably benign	Het
Mfsd6	A	G	1: 52,699,964 (GRCm39)		probably null	Het
Mllt10	T	A	2: 18,167,657 (GRCm39)	S449R	probably damaging	Het
Mon2	T	A	10: 122,849,668 (GRCm39)	T1211S	probably benign	Het
Mrnip	G	A	11: 50,067,688 (GRCm39)	C27Y	probably damaging	Het
Myh15	A	T	16: 48,983,498 (GRCm39)	T1538S	probably benign	Het
Nfatc2ip	A	G	7: 125,989,634 (GRCm39)	V250A	probably benign	Het
Npy1r	A	G	8: 67,157,177 (GRCm39)	D199G	possibly damaging	Het
Numbl	A	G	7: 26,980,379 (GRCm39)	T454A	probably benign	Het
Nutm2	T	G	13: 50,627,152 (GRCm39)	F436V	probably damaging	Het
Opa1	T	C	16: 29,439,628 (GRCm39)	S773P	probably benign	Het
Or12e1	T	A	2: 87,022,042 (GRCm39)	S4T	probably benign	Het
Or2d3	A	T	7: 106,491,184 (GRCm39)		probably null	Het
Or2d3	G	T	7: 106,491,185 (GRCm39)	L44M	probably damaging	Het
Or2r11	A	G	6: 42,437,611 (GRCm39)	L114S	probably damaging	Het
Or2t48	A	G	11: 58,420,602 (GRCm39)	L70P	probably damaging	Het
Or51b17	A	G	7: 103,542,484 (GRCm39)	S153P	probably benign	Het
Or51m1	C	T	7: 103,578,932 (GRCm39)	R301*	probably null	Het
Or52e7	A	G	7: 104,685,157 (GRCm39)	S251G	probably benign	Het
Or52i2	A	G	7: 102,319,508 (GRCm39)	Y127C	probably damaging	Het
Or8b12c	T	A	9: 37,715,599 (GRCm39)	Y131N	probably damaging	Het
Pde8a	G	C	7: 80,950,471 (GRCm39)		probably null	Het
Pgam1	T	C	19: 41,906,144 (GRCm39)	F232S	probably damaging	Het
Pgk1	T	A	X: 105,243,914 (GRCm39)	V303E	possibly damaging	Het
Pirb	A	T	7: 3,720,189 (GRCm39)	C395S	probably damaging	Het
Plxnc1	C	T	10: 94,680,184 (GRCm39)	V824I	probably benign	Het
Ppp6r1	A	G	7: 4,636,691 (GRCm39)		probably null	Het
Rapgef4	C	A	2: 72,056,131 (GRCm39)		probably benign	Het
Rars1	T	A	11: 35,700,465 (GRCm39)	T539S	probably damaging	Het
Rbm44	G	T	1: 91,081,679 (GRCm39)		probably null	Het
Samd4b	A	G	7: 28,113,317 (GRCm39)	I216T	probably benign	Het
Serpine2	A	C	1: 79,794,532 (GRCm39)	F134V	probably damaging	Het
Shmt1	A	G	11: 60,683,790 (GRCm39)	Y341H	probably damaging	Het
Slc23a2	C	A	2: 131,917,561 (GRCm39)	V226F	probably benign	Het
Slc23a4	A	G	6: 34,933,896 (GRCm39)	I69T	probably damaging	Het
Slc37a1	C	A	17: 31,552,652 (GRCm39)	T319K	possibly damaging	Het
Slc6a4	A	T	11: 76,904,078 (GRCm39)	T178S	probably damaging	Het
Smarca4	G	A	9: 21,612,479 (GRCm39)	A1588T	possibly damaging	Het
Spag17	A	T	3: 99,934,668 (GRCm39)	Y650F	possibly damaging	Het
Stab2	C	T	10: 86,838,872 (GRCm39)	G65S	probably damaging	Het
Stambpl1	C	G	19: 34,204,121 (GRCm39)	N70K	probably damaging	Het
Stip1	C	A	19: 6,999,165 (GRCm39)	C471F	probably damaging	Het
Tchh	C	A	3: 93,350,882 (GRCm39)	N107K	possibly damaging	Het
Tenm3	A	C	8: 48,685,139 (GRCm39)	H2432Q	probably damaging	Het
Tmem243	A	G	5: 9,168,548 (GRCm39)	N110S	probably damaging	Het
Toe1	A	T	4: 116,662,076 (GRCm39)	I306F	probably benign	Het
Trank1	G	A	9: 111,221,995 (GRCm39)	V2911M	probably damaging	Het
Trpm4	A	G	7: 44,958,036 (GRCm39)	I811T	probably damaging	Het
Tspear	T	A	10: 77,710,950 (GRCm39)		probably null	Het
Ttc28	A	T	5: 111,425,034 (GRCm39)	I1589F	possibly damaging	Het
Tubgcp3	A	G	8: 12,699,686 (GRCm39)		probably benign	Het
U2af2	C	A	7: 5,070,544 (GRCm39)	R78S	probably benign	Het
Wdr17	A	T	8: 55,126,689 (GRCm39)	D388E	possibly damaging	Het
Wdr3	A	T	3: 100,061,186 (GRCm39)	S261T	probably benign	Het
Zfp667	A	G	7: 6,308,066 (GRCm39)	N245D	possibly damaging	Het
Zfp692	A	G	11: 58,201,002 (GRCm39)		probably benign	Het
Zfp729a	T	C	13: 67,767,370 (GRCm39)	H953R	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
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
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'- GATCTCCGAACTGATCATAACAGGGC -3'
(R):5'- TCATGGCAGTGGTAGTCTCATGACTC -3'

Sequencing Primer
(F):5'- GGGACTATATCTCCTGCCACAG -3'
(R):5'- CAGTGGTAGTCTCATGACTCATAAC -3'

Posted On

2014-05-23