Mutagenetix > Incidental Mutation

Incidental Mutation 'R3689:Taf5'

269696

Institutional Source

Beutler Lab

Gene Symbol

Taf5

Ensembl Gene

ENSMUSG00000025049

Gene Name

TATA-box binding protein associated factor 5

Synonyms

6330528C20Rik

MMRRC Submission

040684-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.969) question?

Stock #

R3689 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

47056187-47071918 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 47067224 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Glutamic Acid at position 519 (K519E)

Ref Sequence

ENSEMBL: ENSMUSP00000026027 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000026027] [ENSMUST00000096014]

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000026027
AA Change: K519E

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000026027
Gene: ENSMUSG00000025049
AA Change: K519E

Domain	Start	End	E-Value	Type
low complexity region	15	26	N/A	INTRINSIC
low complexity region	29	92	N/A	INTRINSIC
LisH	93	125	6.52e-2	SMART
low complexity region	132	150	N/A	INTRINSIC
Pfam:TFIID_NTD2	206	338	4.5e-55	PFAM
low complexity region	389	417	N/A	INTRINSIC
WD40	460	499	8.36e-2	SMART
WD40	533	572	1.82e-11	SMART
WD40	575	614	1.19e-6	SMART
WD40	617	656	9.08e-12	SMART
WD40	659	698	1.4e-12	SMART
WD40	701	740	2.57e-11	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000096014

SMART Domains

Protein: ENSMUSP00000093713
Gene: ENSMUSG00000071528

Domain	Start	End	E-Value	Type
Pfam:ATP_synth_reg	1	51	7.6e-33	PFAM

Meta Mutation Damage Score

0.0886

Coding Region Coverage

1x: 99.1%
3x: 98.6%
10x: 97.3%
20x: 95.2%

Validation Efficiency

100% (53/53)

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 an integral subunit of TFIID associated with all transcriptionally competent forms of that complex. This subunit interacts strongly with two TFIID subunits that show similarity to histones H3 and H4, and it may participate in forming a nucleosome-like core in the TFIID complex. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2015]

Allele List at MGI

Other mutations in this stock

Total: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adcy2	A	T	13: 68,779,088 (GRCm39)	L984Q	probably damaging	Het
Atg16l1	T	C	1: 87,713,626 (GRCm39)	V427A	probably damaging	Het
Bclaf1	C	T	10: 20,201,143 (GRCm39)	T423I	possibly damaging	Het
Blm	G	C	7: 80,162,827 (GRCm39)	P175A	possibly damaging	Het
Bpifb1	A	G	2: 154,051,819 (GRCm39)	D208G	probably benign	Het
Cdc42ep1	T	C	15: 78,731,629 (GRCm39)	S25P	probably benign	Het
Cep162	G	A	9: 87,107,747 (GRCm39)	Q548*	probably null	Het
Chchd10	T	C	10: 75,771,835 (GRCm39)		probably benign	Het
Cog3	T	C	14: 75,991,878 (GRCm39)	M1V	probably null	Het
Dcx	T	C	X: 142,660,240 (GRCm39)	E268G	possibly damaging	Het
Erich2	T	C	2: 70,371,097 (GRCm39)	V419A	unknown	Het
Fam53c	A	G	18: 34,903,886 (GRCm39)	D386G	probably damaging	Het
Fgd2	A	G	17: 29,597,924 (GRCm39)	T620A	probably benign	Het
G930045G22Rik	A	T	6: 50,823,535 (GRCm39)		noncoding transcript	Het
Grpel1	G	A	5: 36,626,769 (GRCm39)		probably null	Het
Map3k15	T	A	X: 158,905,568 (GRCm39)	N1295K	possibly damaging	Het
Mideas	C	T	12: 84,203,245 (GRCm39)	G886S	probably benign	Het
Mrpl44	T	A	1: 79,757,366 (GRCm39)	Y270*	probably null	Het
Mtss1	A	G	15: 58,825,385 (GRCm39)	S272P	probably damaging	Het
Myo9b	G	A	8: 71,786,981 (GRCm39)	R721Q	probably benign	Het
N4bp1	C	T	8: 87,587,184 (GRCm39)	D585N	probably damaging	Het
Napb	T	C	2: 148,544,977 (GRCm39)		probably null	Het
Nexmif	A	T	X: 103,131,213 (GRCm39)	Y235N	probably damaging	Het
Niban1	A	G	1: 151,579,447 (GRCm39)		probably null	Het
Nms	T	C	1: 38,986,075 (GRCm39)		probably benign	Het
Nsun2	A	G	13: 69,760,456 (GRCm39)	N45D	probably damaging	Het
Or4c116	T	A	2: 88,942,386 (GRCm39)	I157L	possibly damaging	Het
Pak6	C	T	2: 118,523,921 (GRCm39)	Q359*	probably null	Het
Pcdhb12	C	T	18: 37,569,127 (GRCm39)	A91V	probably benign	Het
Pde11a	T	A	2: 76,121,510 (GRCm39)	K357I	probably damaging	Het
Piwil4	T	C	9: 14,637,259 (GRCm39)	T352A	probably damaging	Het
Plscr1l1	A	C	9: 92,234,673 (GRCm39)	N60T	probably damaging	Het
Sec31a	T	A	5: 100,530,766 (GRCm39)	D239V	probably damaging	Het
Slc13a4	T	C	6: 35,245,845 (GRCm39)	N600S	possibly damaging	Het
Smc1b	T	A	15: 85,001,464 (GRCm39)		probably benign	Het
Spatc1	A	T	15: 76,152,495 (GRCm39)	K42*	probably null	Het
Sprr2j-ps	A	G	3: 92,326,290 (GRCm39)	H55R	probably benign	Het
Srsf9	A	G	5: 115,465,387 (GRCm39)	D7G	probably benign	Het
Stt3a	T	C	9: 36,670,618 (GRCm39)	Y51C	probably damaging	Het
Taf7l	A	T	X: 133,365,074 (GRCm39)	I449K	probably damaging	Het
Tnk1	C	A	11: 69,746,425 (GRCm39)	D263Y	probably damaging	Het
Ttc21b	T	A	2: 66,054,488 (GRCm39)	I714F	probably benign	Het
Ttn	C	G	2: 76,629,588 (GRCm39)	W14284C	probably damaging	Het
Txn1	T	C	4: 57,950,846 (GRCm39)	D61G	probably benign	Het
Ugcg	T	C	4: 59,211,883 (GRCm39)	V83A	probably benign	Het
Ulk3	T	C	9: 57,501,077 (GRCm39)	V348A	probably benign	Het
Wdr93	A	G	7: 79,421,333 (GRCm39)	T409A	possibly damaging	Het
Wfikkn1	A	G	17: 26,097,692 (GRCm39)	C211R	probably damaging	Het
Zap70	T	C	1: 36,820,493 (GRCm39)	C563R	probably damaging	Het
Zc3h12c	C	T	9: 52,027,256 (GRCm39)	R721H	probably benign	Het
Zfp169	A	G	13: 48,660,377 (GRCm39)		probably benign	Het

Other mutations in Taf5

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00672:Taf5	APN	19	47,070,740 (GRCm39)	missense	probably damaging	1.00
IGL01115:Taf5	APN	19	47,063,521 (GRCm39)	missense	probably benign	0.01
IGL02168:Taf5	APN	19	47,070,917 (GRCm39)	missense	probably damaging	0.98
IGL02638:Taf5	APN	19	47,056,649 (GRCm39)	missense	probably benign	0.00
IGL02689:Taf5	APN	19	47,065,704 (GRCm39)	splice site	probably benign
R0008:Taf5	UTSW	19	47,064,301 (GRCm39)	missense	possibly damaging	0.94
R0008:Taf5	UTSW	19	47,064,301 (GRCm39)	missense	possibly damaging	0.94
R0220:Taf5	UTSW	19	47,068,999 (GRCm39)	missense	probably damaging	1.00
R0685:Taf5	UTSW	19	47,063,293 (GRCm39)	missense	probably benign	0.10
R1518:Taf5	UTSW	19	47,070,285 (GRCm39)	missense	probably damaging	1.00
R2329:Taf5	UTSW	19	47,063,563 (GRCm39)	missense	probably benign	0.07
R3431:Taf5	UTSW	19	47,064,272 (GRCm39)	missense	probably damaging	1.00
R3432:Taf5	UTSW	19	47,064,272 (GRCm39)	missense	probably damaging	1.00
R4411:Taf5	UTSW	19	47,059,453 (GRCm39)	missense	probably damaging	1.00
R4413:Taf5	UTSW	19	47,059,453 (GRCm39)	missense	probably damaging	1.00
R4676:Taf5	UTSW	19	47,063,409 (GRCm39)	missense	probably damaging	1.00
R5370:Taf5	UTSW	19	47,064,203 (GRCm39)	missense	probably damaging	0.99
R5875:Taf5	UTSW	19	47,064,549 (GRCm39)	missense	probably damaging	1.00
R5883:Taf5	UTSW	19	47,056,228 (GRCm39)	missense	unknown
R5937:Taf5	UTSW	19	47,070,334 (GRCm39)	missense	probably damaging	1.00
R6835:Taf5	UTSW	19	47,065,776 (GRCm39)	missense	possibly damaging	0.94
R7007:Taf5	UTSW	19	47,059,650 (GRCm39)	missense	probably damaging	1.00
R8198:Taf5	UTSW	19	47,064,212 (GRCm39)	missense	probably damaging	0.97
R9151:Taf5	UTSW	19	47,063,370 (GRCm39)	missense	probably damaging	0.98
R9500:Taf5	UTSW	19	47,065,771 (GRCm39)	missense	probably damaging	1.00
R9762:Taf5	UTSW	19	47,059,434 (GRCm39)	missense	probably damaging	0.96

Predicted Primers

PCR Primer
(F):5'- CCAAACTTGTAATAAGGTCAGGAC -3'
(R):5'- GCAACCATGTTTAGCATTTGC -3'

Sequencing Primer
(F):5'- AGTCCTGGTTTTCACACTGAGTAAC -3'
(R):5'- TGCATTTAACTTTAAGCTCTCAGTTC -3'

Posted On

2015-02-19