Mutagenetix > Incidental Mutation

Incidental Mutation 'R0049:Taf4'

40857

Institutional Source

Beutler Lab

Gene Symbol

Taf4

Ensembl Gene

ENSMUSG00000039117

Gene Name

TATA-box binding protein associated factor 4

Synonyms

TAFII130, Taf2c1, TAFII135, Taf4a

MMRRC Submission

038343-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R0049 (G1)

Quality Score

197

Status

Validated

Chromosome

Chromosomal Location

179553945-179618439 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 179565884 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Methionine at position 849 (T849M)

Ref Sequence

ENSEMBL: ENSMUSP00000038610 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000041618] [ENSMUST00000227325]

AlphaFold

E9QAP7

Predicted Effect

probably damaging
Transcript: ENSMUST00000041618
AA Change: T849M

PolyPhen 2 Score 0.977 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000038610
Gene: ENSMUSG00000039117
AA Change: T849M

Domain	Start	End	E-Value	Type
low complexity region	28	44	N/A	INTRINSIC
low complexity region	64	181	N/A	INTRINSIC
SCOP:d1hqva_	312	325	6e-3	SMART
low complexity region	339	371	N/A	INTRINSIC
low complexity region	395	408	N/A	INTRINSIC
low complexity region	428	443	N/A	INTRINSIC
low complexity region	445	458	N/A	INTRINSIC
internal_repeat_1	465	500	2.85e-5	PROSPERO
low complexity region	537	547	N/A	INTRINSIC
TAFH	550	642	4.9e-54	SMART
internal_repeat_1	692	727	2.85e-5	PROSPERO
low complexity region	767	773	N/A	INTRINSIC
Pfam:TAF4	791	1039	3.5e-81	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000154961

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000155335

Predicted Effect

possibly damaging
Transcript: ENSMUST00000227325
AA Change: T837M

PolyPhen 2 Score 0.886 (Sensitivity: 0.82; Specificity: 0.94)

Meta Mutation Damage Score

0.2869

Coding Region Coverage

1x: 99.7%
3x: 98.9%
10x: 97.0%
20x: 94.3%

Validation Efficiency

99% (114/115)

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 transcription factor IID (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 one of the larger subunits of TFIID that has been shown to potentiate transcriptional activation by retinoic acid, thyroid hormone and vitamin D3 receptors. In addition, this subunit interacts with the transcription factor CREB, which has a glutamine-rich activation domain, and binds to other proteins containing glutamine-rich regions. Aberrant binding to this subunit by proteins with expanded polyglutamine regions has been suggested as one of the pathogenetic mechanisms underlying a group of neurodegenerative disorders referred to as polyglutamine diseases. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for deletions of this marker die embryonically sometime around E9.5. Conditional expression of this allele in the epidermis causes skin barrier defects and defects in hair growth. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 110 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A2m	A	T	6: 121,615,267 (GRCm39)	H9L	possibly damaging	Het
Aars1	T	A	8: 111,779,083 (GRCm39)	I739K	possibly damaging	Het
Abcb1b	T	A	5: 8,875,661 (GRCm39)	H611Q	probably damaging	Het
Acod1	T	A	14: 103,292,643 (GRCm39)	I389K	possibly damaging	Het
Adgre1	T	A	17: 57,709,841 (GRCm39)	L166*	probably null	Het
Akap1	C	A	11: 88,730,450 (GRCm39)		probably null	Het
Akna	T	A	4: 63,312,872 (GRCm39)	Q417L	probably damaging	Het
Anxa7	T	C	14: 20,512,678 (GRCm39)	D285G	probably damaging	Het
Arhgap1	T	C	2: 91,500,514 (GRCm39)	Y308H	probably damaging	Het
Arhgef10	A	C	8: 15,004,446 (GRCm39)	R360S	probably damaging	Het
Arhgef11	T	A	3: 87,636,500 (GRCm39)		probably null	Het
Arid3a	A	G	10: 79,766,899 (GRCm39)	T58A	possibly damaging	Het
Atosb	A	T	4: 43,036,441 (GRCm39)	S97T	probably benign	Het
Atp6v0a4	G	A	6: 38,059,016 (GRCm39)	R256C	probably damaging	Het
Camsap3	C	A	8: 3,648,772 (GRCm39)	S163R	probably benign	Het
Ccdc110	A	T	8: 46,395,663 (GRCm39)	E518V	probably damaging	Het
Ccdc180	G	A	4: 45,930,119 (GRCm39)		probably null	Het
Ccnt1	T	C	15: 98,462,960 (GRCm39)	M71V	probably benign	Het
Celsr2	T	A	3: 108,304,570 (GRCm39)	Y2263F	probably benign	Het
Cfap36	A	T	11: 29,196,514 (GRCm39)		probably null	Het
Cfap69	T	C	5: 5,663,734 (GRCm39)	T498A	probably benign	Het
Chadl	T	C	15: 81,578,213 (GRCm39)	D6G	probably benign	Het
Clstn3	T	A	6: 124,436,812 (GRCm39)	I132F	possibly damaging	Het
Cnot4	A	G	6: 35,028,212 (GRCm39)	V468A	probably benign	Het
Crmp1	T	G	5: 37,422,617 (GRCm39)	D141E	possibly damaging	Het
Crtc1	A	G	8: 70,844,509 (GRCm39)		probably null	Het
Cryz	C	A	3: 154,317,189 (GRCm39)	A136D	probably damaging	Het
Dph6	A	G	2: 114,353,525 (GRCm39)	V221A	probably benign	Het
Dst	A	T	1: 34,314,862 (GRCm39)	N4267Y	probably damaging	Het
Duox2	T	A	2: 122,127,167 (GRCm39)	D170V	possibly damaging	Het
Ecm2	A	T	13: 49,677,922 (GRCm39)	K403*	probably null	Het
Eif3d	T	C	15: 77,843,924 (GRCm39)	N474S	probably benign	Het
Elf1	T	C	14: 79,802,965 (GRCm39)	L106P	probably damaging	Het
Exoc4	G	C	6: 33,273,857 (GRCm39)		probably null	Het
F12	T	C	13: 55,574,130 (GRCm39)	D34G	probably benign	Het
Fam228b	A	T	12: 4,798,117 (GRCm39)	F200Y	probably damaging	Het
Fgl2	T	A	5: 21,580,661 (GRCm39)	D334E	possibly damaging	Het
Fras1	T	A	5: 96,924,481 (GRCm39)	F3641I	probably benign	Het
Gabrb2	T	G	11: 42,484,674 (GRCm39)	Y244D	probably damaging	Het
Gcc1	A	T	6: 28,421,268 (GRCm39)	D16E	probably benign	Het
Gga3	C	A	11: 115,477,915 (GRCm39)	G558*	probably null	Het
Glt1d1	T	C	5: 127,740,391 (GRCm39)		probably benign	Het
Gorasp2	T	C	2: 70,521,067 (GRCm39)	S346P	possibly damaging	Het
Hcn4	T	C	9: 58,767,582 (GRCm39)	S1048P	probably damaging	Het
Henmt1	T	A	3: 108,861,105 (GRCm39)		probably benign	Het
Htt	A	C	5: 35,066,006 (GRCm39)	K3060N	probably damaging	Het
Ibsp	C	T	5: 104,450,024 (GRCm39)	L8F	probably damaging	Het
Kif27	A	T	13: 58,451,378 (GRCm39)	D983E	probably damaging	Het
Kif3a	T	A	11: 53,481,560 (GRCm39)		probably benign	Het
Kif3c	A	C	12: 3,417,090 (GRCm39)	K370N	possibly damaging	Het
Loxhd1	T	C	18: 77,468,256 (GRCm39)		probably benign	Het
Maz	A	T	7: 126,623,758 (GRCm39)	D74E	probably damaging	Het
Med21	T	C	6: 146,551,732 (GRCm39)	S128P	probably damaging	Het
Mms19	A	C	19: 41,943,607 (GRCm39)	M374R	probably damaging	Het
Mprip	T	C	11: 59,657,571 (GRCm39)	V801A	probably damaging	Het
Mrpl3	T	C	9: 104,932,872 (GRCm39)	V111A	probably benign	Het
Mtfr2	T	A	10: 20,224,158 (GRCm39)	Y31N	probably damaging	Het
Myh3	C	T	11: 66,990,498 (GRCm39)	R1677C	probably damaging	Het
Mynn	T	A	3: 30,661,230 (GRCm39)	*61K	probably null	Het
Neb	A	C	2: 52,060,479 (GRCm39)	M2286R	possibly damaging	Het
Ngf	A	T	3: 102,427,661 (GRCm39)	R137*	probably null	Het
Nr1i3	T	A	1: 171,041,982 (GRCm39)	V22E	probably damaging	Het
Nxpe5	T	C	5: 138,249,566 (GRCm39)	V452A	probably damaging	Het
Oas1e	C	A	5: 120,933,395 (GRCm39)	A57S	probably benign	Het
Or11g27	A	T	14: 50,771,151 (GRCm39)	K94M	probably damaging	Het
Or14j10	T	A	17: 37,935,024 (GRCm39)	R167S	probably benign	Het
Or5b105	G	A	19: 13,080,642 (GRCm39)	R3C	possibly damaging	Het
Pax3	A	G	1: 78,080,141 (GRCm39)	L415P	probably damaging	Het
Pcnt	G	T	10: 76,205,655 (GRCm39)		probably benign	Het
Peg3	G	T	7: 6,714,672 (GRCm39)	D183E	possibly damaging	Het
Pglyrp1	G	T	7: 18,623,313 (GRCm39)	G120V	probably damaging	Het
Pnp2	T	A	14: 51,196,990 (GRCm39)	Y25*	probably null	Het
Pomt1	T	A	2: 32,142,023 (GRCm39)	H584Q	possibly damaging	Het
Ppp1r12a	A	G	10: 108,089,193 (GRCm39)	N611D	possibly damaging	Het
Prkcq	G	A	2: 11,288,643 (GRCm39)	G532E	probably benign	Het
Prl6a1	A	T	13: 27,501,980 (GRCm39)	I116F	probably damaging	Het
Ptprh	T	A	7: 4,576,361 (GRCm39)	T300S	possibly damaging	Het
Pwp1	A	G	10: 85,721,480 (GRCm39)	T361A	possibly damaging	Het
Rab4a	A	T	8: 124,554,081 (GRCm39)	H5L	probably damaging	Het
Raet1e	C	A	10: 22,056,761 (GRCm39)	H112Q	possibly damaging	Het
Ramp1	T	C	1: 91,124,592 (GRCm39)	I51T	possibly damaging	Het
Raph1	G	T	1: 60,565,058 (GRCm39)	T143K	probably benign	Het
Rhpn1	A	G	15: 75,581,088 (GRCm39)	E110G	possibly damaging	Het
Rnf168	A	T	16: 32,117,287 (GRCm39)	T283S	possibly damaging	Het
Ros1	T	A	10: 51,977,857 (GRCm39)	Y1463F	possibly damaging	Het
Rtn4ip1	A	G	10: 43,797,430 (GRCm39)	Q223R	probably null	Het
Rtp4	G	T	16: 23,431,679 (GRCm39)	M70I	probably benign	Het
Sag	C	A	1: 87,762,340 (GRCm39)	T335K	probably damaging	Het
Satb1	T	A	17: 52,047,374 (GRCm39)	Q647L	probably benign	Het
Sec31b	T	C	19: 44,508,847 (GRCm39)		probably benign	Het
Sgo1	C	T	17: 53,986,691 (GRCm39)	D167N	probably damaging	Het
Slco1a8	T	C	6: 141,936,147 (GRCm39)	T313A	probably benign	Het
Smchd1	T	C	17: 71,738,231 (GRCm39)	I545V	probably benign	Het
St6gal1	G	T	16: 23,139,891 (GRCm39)	A21S	probably damaging	Het
Stard9	C	A	2: 120,530,300 (GRCm39)	L2186I	probably damaging	Het
Sun2	T	A	15: 79,611,810 (GRCm39)		probably benign	Het
Tdrd5	A	T	1: 156,129,473 (GRCm39)	I79N	probably damaging	Het
Tdrd7	A	G	4: 45,987,582 (GRCm39)	I72V	probably damaging	Het
Tnxb	T	A	17: 34,928,542 (GRCm39)	V2652E	possibly damaging	Het
Trim30a	C	T	7: 104,078,559 (GRCm39)		probably null	Het
Tshz3	A	G	7: 36,469,534 (GRCm39)	T508A	probably damaging	Het
Ttc21b	A	G	2: 66,053,908 (GRCm39)	L757P	probably damaging	Het
Ubtd2	A	C	11: 32,449,223 (GRCm39)		probably null	Het
Ubtd2	G	T	11: 32,449,224 (GRCm39)		probably null	Het
Vmn1r218	C	T	13: 23,321,225 (GRCm39)	Q111*	probably null	Het
Vmn2r75	G	A	7: 85,797,309 (GRCm39)	Q835*	probably null	Het
Vwa8	T	A	14: 79,331,179 (GRCm39)	M1229K	probably benign	Het
Wdr76	C	T	2: 121,349,932 (GRCm39)	R111C	probably damaging	Het
Xcr1	T	A	9: 123,684,940 (GRCm39)	D274V	possibly damaging	Het
Ypel5	C	T	17: 73,153,332 (GRCm39)	T12I	probably benign	Het

Other mutations in Taf4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00334:Taf4	APN	2	179,618,418 (GRCm39)	missense	unknown
IGL00517:Taf4	APN	2	179,566,206 (GRCm39)	splice site	probably benign
IGL02159:Taf4	APN	2	179,580,263 (GRCm39)	missense	probably benign	0.24
IGL02254:Taf4	APN	2	179,562,977 (GRCm39)	missense	probably benign	0.25
IGL03366:Taf4	APN	2	179,576,847 (GRCm39)	missense	probably damaging	1.00
R0049:Taf4	UTSW	2	179,565,884 (GRCm39)	missense	probably damaging	0.98
R1267:Taf4	UTSW	2	179,571,117 (GRCm39)	missense	possibly damaging	0.46
R1495:Taf4	UTSW	2	179,574,820 (GRCm39)	missense	probably damaging	1.00
R1560:Taf4	UTSW	2	179,577,746 (GRCm39)	missense	probably benign	0.14
R1756:Taf4	UTSW	2	179,618,324 (GRCm39)	missense	unknown
R1893:Taf4	UTSW	2	179,574,823 (GRCm39)	missense	probably damaging	0.98
R1932:Taf4	UTSW	2	179,573,822 (GRCm39)	missense	probably damaging	1.00
R2213:Taf4	UTSW	2	179,577,683 (GRCm39)	critical splice donor site	probably null
R3896:Taf4	UTSW	2	179,573,807 (GRCm39)	missense	probably benign	0.45
R4050:Taf4	UTSW	2	179,573,805 (GRCm39)	missense	probably damaging	1.00
R4448:Taf4	UTSW	2	179,577,764 (GRCm39)	missense	possibly damaging	0.65
R4736:Taf4	UTSW	2	179,566,287 (GRCm39)	missense	probably damaging	1.00
R5124:Taf4	UTSW	2	179,573,822 (GRCm39)	missense	probably damaging	1.00
R6155:Taf4	UTSW	2	179,555,317 (GRCm39)	missense	probably damaging	1.00
R6238:Taf4	UTSW	2	179,573,832 (GRCm39)	missense	probably damaging	0.97
R6292:Taf4	UTSW	2	179,565,780 (GRCm39)	missense	probably damaging	1.00
R7749:Taf4	UTSW	2	179,573,822 (GRCm39)	missense	probably damaging	1.00
R7751:Taf4	UTSW	2	179,573,822 (GRCm39)	missense	probably damaging	1.00
R7752:Taf4	UTSW	2	179,573,822 (GRCm39)	missense	probably damaging	1.00
R7754:Taf4	UTSW	2	179,573,822 (GRCm39)	missense	probably damaging	1.00
R7835:Taf4	UTSW	2	179,573,822 (GRCm39)	missense	probably damaging	1.00
R7879:Taf4	UTSW	2	179,573,822 (GRCm39)	missense	probably damaging	1.00
R7880:Taf4	UTSW	2	179,577,726 (GRCm39)	nonsense	probably null
R7880:Taf4	UTSW	2	179,573,822 (GRCm39)	missense	probably damaging	1.00
R7883:Taf4	UTSW	2	179,571,088 (GRCm39)	missense	probably damaging	1.00
R7899:Taf4	UTSW	2	179,573,822 (GRCm39)	missense	probably damaging	1.00
R7902:Taf4	UTSW	2	179,573,822 (GRCm39)	missense	probably damaging	1.00
R7905:Taf4	UTSW	2	179,573,822 (GRCm39)	missense	probably damaging	1.00
R9743:Taf4	UTSW	2	179,581,592 (GRCm39)	missense	possibly damaging	0.79

Predicted Primers

PCR Primer
(F):5'- GTGAGAACACGAACATTCTCCCCG -3'
(R):5'- TGTAAAGACGACACCTTCCTCCTCC -3'

Sequencing Primer
(F):5'- CGGGAAAACAGCCTCATTAC -3'
(R):5'- CCATAGAGGCTCCACTGTTG -3'

Posted On

2013-05-23