Mutagenetix > Incidental Mutation

Incidental Mutation 'R1518:Taf5'

167235

Institutional Source

Beutler Lab

Gene Symbol

Taf5

Ensembl Gene

ENSMUSG00000025049

Gene Name

TATA-box binding protein associated factor 5

Synonyms

6330528C20Rik

Accession Numbers

Essential gene?

Probably essential (E-score: 0.969) question?

Stock #

R1518 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

47056187-47071918 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 47070285 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Leucine at position 624 (F624L)

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: F624L

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000026027
Gene: ENSMUSG00000025049
AA Change: F624L

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

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.8%
20x: 94.3%

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 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: 78 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcg4	T	A	9: 44,186,666 (GRCm39)	M493L	probably benign	Het
Abtb2	G	A	2: 103,539,629 (GRCm39)	V665I	probably benign	Het
Adamtsl1	C	G	4: 86,260,840 (GRCm39)	S1017W	probably damaging	Het
Aebp1	A	G	11: 5,821,469 (GRCm39)	T623A	possibly damaging	Het
Alox5	A	G	6: 116,390,741 (GRCm39)	F470S	probably damaging	Het
Angpt2	T	C	8: 18,755,855 (GRCm39)	E204G	probably benign	Het
Apip	A	G	2: 102,919,838 (GRCm39)	E138G	probably damaging	Het
Apob	C	T	12: 8,039,207 (GRCm39)	T466M	probably benign	Het
Atp2b3	GACAACA	GACA	X: 72,588,729 (GRCm39)		probably benign	Het
Atxn7l3	A	T	11: 102,185,340 (GRCm39)	D56E	probably benign	Het
Cacna1s	C	T	1: 136,026,289 (GRCm39)	A1092V	probably damaging	Het
Calr3	A	G	8: 73,181,044 (GRCm39)	F183L	probably damaging	Het
Cd300lb	T	A	11: 114,816,877 (GRCm39)	D55V	probably benign	Het
Chid1	A	C	7: 141,108,384 (GRCm39)	V145G	probably damaging	Het
Chst15	T	C	7: 131,871,855 (GRCm39)	N142S	probably damaging	Het
Cnot4	C	T	6: 35,028,389 (GRCm39)	R409Q	probably damaging	Het
Cope	T	G	8: 70,765,411 (GRCm39)	I287S	possibly damaging	Het
Cpd	A	T	11: 76,731,212 (GRCm39)		probably null	Het
Cux1	G	T	5: 136,337,133 (GRCm39)	T785K	probably benign	Het
Dennd2b	A	G	7: 109,156,562 (GRCm39)	S63P	probably damaging	Het
Dthd1	T	C	5: 62,979,383 (GRCm39)	S348P	probably damaging	Het
Eno3	G	T	11: 70,551,903 (GRCm39)	E64*	probably null	Het
Entpd1	T	A	19: 40,713,507 (GRCm39)	Y184*	probably null	Het
Erv3	A	T	2: 131,698,083 (GRCm39)	M92K	probably benign	Het
Flg2	T	A	3: 93,110,445 (GRCm39)	H824Q	unknown	Het
Fndc9	G	A	11: 46,128,930 (GRCm39)	G150S	probably benign	Het
Gdap1	G	A	1: 17,217,169 (GRCm39)	V43I	possibly damaging	Het
Ifi213	C	A	1: 173,417,229 (GRCm39)	L394F	probably damaging	Het
Ift88	A	G	14: 57,668,085 (GRCm39)	T29A	possibly damaging	Het
Kdm4c	A	T	4: 74,252,063 (GRCm39)	I437L	probably benign	Het
Kras	T	A	6: 145,177,977 (GRCm39)	E98D	probably benign	Het
Lcorl	C	A	5: 45,891,543 (GRCm39)	R353I	possibly damaging	Het
Lrrc4c	A	G	2: 97,460,921 (GRCm39)	I516V	probably benign	Het
Lrrc51	T	C	7: 101,564,803 (GRCm39)	D85G	probably damaging	Het
Lypd6b	G	A	2: 49,837,504 (GRCm39)	A159T	probably damaging	Het
Magel2	G	A	7: 62,030,188 (GRCm39)	V1031I	unknown	Het
Man1c1	A	T	4: 134,308,100 (GRCm39)	N338K	probably benign	Het
Mdn1	C	A	4: 32,739,977 (GRCm39)	Q3744K	probably damaging	Het
Micu3	G	T	8: 40,788,893 (GRCm39)	A135S	possibly damaging	Het
Muc4	T	C	16: 32,569,167 (GRCm39)	S76P	possibly damaging	Het
Nin	T	G	12: 70,061,547 (GRCm39)	T2106P	probably benign	Het
Nlrp4e	T	C	7: 23,021,268 (GRCm39)	I585T	probably benign	Het
Npy1r	C	T	8: 67,156,847 (GRCm39)	A89V	probably benign	Het
Or11g27	T	C	14: 50,771,622 (GRCm39)	V251A	probably damaging	Het
Or4c115	G	A	2: 88,927,944 (GRCm39)	A109V	probably benign	Het
Or52ae7	T	A	7: 103,119,249 (GRCm39)	M1K	probably null	Het
Or52n3	T	A	7: 104,530,515 (GRCm39)	Y200*	probably null	Het
Or5w13	A	T	2: 87,523,872 (GRCm39)	M118K	probably damaging	Het
Parp14	T	G	16: 35,677,008 (GRCm39)	T987P	possibly damaging	Het
Pde7b	A	T	10: 20,423,867 (GRCm39)	V3E	probably damaging	Het
Pdlim7	G	T	13: 55,656,107 (GRCm39)	Y104*	probably null	Het
Pgm2l1	A	G	7: 99,910,932 (GRCm39)	K292R	probably benign	Het
Plec	T	C	15: 76,072,401 (GRCm39)	E728G	probably damaging	Het
Plppr4	T	C	3: 117,129,152 (GRCm39)	Y105C	probably damaging	Het
Polr1c	A	T	17: 46,558,821 (GRCm39)	N23K	possibly damaging	Het
Ppp5c	A	T	7: 16,743,861 (GRCm39)	M191K	probably damaging	Het
Prkca	T	C	11: 107,869,142 (GRCm39)	D57G	probably damaging	Het
Prkcb	A	G	7: 122,143,854 (GRCm39)		probably null	Het
Prl6a1	A	T	13: 27,502,911 (GRCm39)	Q169L	probably null	Het
Prl6a1	C	A	13: 27,502,910 (GRCm39)	Q169K	possibly damaging	Het
Psmd14	G	A	2: 61,591,335 (GRCm39)	R46H	probably damaging	Het
Ptpro	T	A	6: 137,420,592 (GRCm39)	V1007D	probably damaging	Het
Ramp2	A	G	11: 101,138,408 (GRCm39)	T22A	probably benign	Het
Rbm19	AGAGGAGGAGGAGGAGGAGGA	AGAGGAGGAGGAGGAGGA	5: 120,278,345 (GRCm39)		probably benign	Het
Rbm25	A	T	12: 83,715,219 (GRCm39)	E463D	possibly damaging	Het
Retnlb	A	G	16: 48,637,678 (GRCm39)	I35V	probably benign	Het
Sestd1	A	G	2: 77,071,976 (GRCm39)	Y49H	probably damaging	Het
Setd2	T	A	9: 110,431,306 (GRCm39)	I2378N	probably damaging	Het
Slc26a1	A	T	5: 108,819,740 (GRCm39)	C486*	probably null	Het
Spef2	T	A	15: 9,667,316 (GRCm39)	I791F	probably damaging	Het
Sptb	T	C	12: 76,650,798 (GRCm39)	T1726A	possibly damaging	Het
Stk38l	T	A	6: 146,673,129 (GRCm39)	M296K	probably benign	Het
Tmem30c	G	T	16: 57,086,855 (GRCm39)	T316K	probably damaging	Het
Trpm2	A	G	10: 77,778,839 (GRCm39)	S376P	possibly damaging	Het
Vmn2r82	A	T	10: 79,214,702 (GRCm39)	L228F	probably damaging	Het
Zfp607b	G	A	7: 27,398,087 (GRCm39)	C57Y	possibly damaging	Het
Zfp983	A	G	17: 21,881,269 (GRCm39)	H399R	probably damaging	Het
Zfp984	A	T	4: 147,840,002 (GRCm39)	M283K	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
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
R3689:Taf5	UTSW	19	47,067,224 (GRCm39)	missense	probably damaging	0.99
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

Posted On

2014-04-13