Mutagenetix > Incidental Mutation

Incidental Mutation 'R7007:Taf5'

544807

Institutional Source

Beutler Lab

Gene Symbol

Taf5

Ensembl Gene

ENSMUSG00000025049

Gene Name

TATA-box binding protein associated factor 5

Synonyms

6330528C20Rik

MMRRC Submission

045109-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.969) question?

Stock #

R7007 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

47056187-47071918 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 47059650 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Isoleucine at position 265 (F265I)

Ref Sequence

ENSEMBL: ENSMUSP00000026027 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000026027
AA Change: F265I

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000026027
Gene: ENSMUSG00000025049
AA Change: F265I

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

Meta Mutation Damage Score

0.2732

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.0%

Validation Efficiency

95% (63/66)

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: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930474N05Rik	C	T	14: 35,817,121 (GRCm39)	T57I	probably benign	Het
Adcy8	T	C	15: 64,576,565 (GRCm39)	N999S	possibly damaging	Het
Adgrv1	T	A	13: 81,684,483 (GRCm39)	I1073F	possibly damaging	Het
Akap3	A	G	6: 126,843,439 (GRCm39)	D686G	probably damaging	Het
Alg2	A	T	4: 47,471,881 (GRCm39)	I309N	probably benign	Het
Ankrd36	A	G	11: 5,639,168 (GRCm39)	E1360G	probably benign	Het
Aox1	C	A	1: 58,370,051 (GRCm39)	Q788K	probably damaging	Het
Apoc2	A	T	7: 19,407,282 (GRCm39)	D26E	possibly damaging	Het
Bbx	G	A	16: 50,022,851 (GRCm39)	T703I	possibly damaging	Het
C2cd4d	T	C	3: 94,271,378 (GRCm39)	Y215H	probably benign	Het
C3	C	T	17: 57,525,809 (GRCm39)	E858K	probably benign	Het
Ciita	T	C	16: 10,329,171 (GRCm39)	L482P	probably damaging	Het
Cldn9	T	C	17: 23,902,052 (GRCm39)	E191G	probably benign	Het
Cnst	T	A	1: 179,438,133 (GRCm39)	S566T	probably damaging	Het
Col5a2	A	G	1: 45,417,609 (GRCm39)	I1322T	possibly damaging	Het
Cp	G	A	3: 20,024,137 (GRCm39)	V326M	probably damaging	Het
Cyp7b1	G	A	3: 18,151,782 (GRCm39)	Q144*	probably null	Het
Dnah10	T	C	5: 124,864,490 (GRCm39)	S2232P	probably damaging	Het
Dnah17	T	C	11: 118,009,697 (GRCm39)	E625G	possibly damaging	Het
Dnah7c	T	A	1: 46,571,910 (GRCm39)	D794E	probably benign	Het
Dusp10	G	A	1: 183,769,414 (GRCm39)	V127M	probably benign	Het
Dysf	G	C	6: 84,090,962 (GRCm39)	W1015C	probably damaging	Het
Fbxw17	T	C	13: 50,577,808 (GRCm39)	Y104H	probably damaging	Het
Gm6408	G	A	5: 146,420,647 (GRCm39)	E176K	probably damaging	Het
Gp1bb	T	A	16: 18,439,689 (GRCm39)	D135V	possibly damaging	Het
Gprin1	C	T	13: 54,886,069 (GRCm39)	C735Y	probably damaging	Het
Heatr9	T	A	11: 83,411,446 (GRCm39)	M30L	possibly damaging	Het
Hhat	G	A	1: 192,376,134 (GRCm39)	T333I	possibly damaging	Het
Htr5b	A	G	1: 121,438,223 (GRCm39)	F336S	probably damaging	Het
Ippk	T	G	13: 49,590,181 (GRCm39)		probably null	Het
Jph1	T	A	1: 17,074,410 (GRCm39)	H11L	possibly damaging	Het
Kif12	T	A	4: 63,084,717 (GRCm39)	I534L	probably benign	Het
Lemd3	A	T	10: 120,788,137 (GRCm39)	F523I	probably benign	Het
Lgsn	C	A	1: 31,229,508 (GRCm39)	H76Q	probably benign	Het
Lipm	T	A	19: 34,089,497 (GRCm39)	W152R	probably damaging	Het
Mei1	A	T	15: 81,978,200 (GRCm39)	R216W	probably damaging	Het
Mybpc1	C	T	10: 88,389,274 (GRCm39)	G379S	probably damaging	Het
Myh8	A	G	11: 67,179,142 (GRCm39)	T512A	probably benign	Het
Nf1	A	G	11: 79,337,849 (GRCm39)		probably null	Het
Npc1	T	C	18: 12,343,605 (GRCm39)	T463A	probably benign	Het
Or12e10	A	G	2: 87,640,230 (GRCm39)	N22S	probably damaging	Het
Or2y13	G	A	11: 49,415,011 (GRCm39)	V154M	probably benign	Het
Or6c7	A	T	10: 129,323,277 (GRCm39)	I133F	probably damaging	Het
Osbpl11	T	G	16: 33,047,309 (GRCm39)	I424R	possibly damaging	Het
Pnma8b	A	T	7: 16,680,181 (GRCm39)	K388N	possibly damaging	Het
Ppp1r26	A	T	2: 28,341,171 (GRCm39)	K267I	probably damaging	Het
Psmb5	A	T	14: 54,854,166 (GRCm39)	M104K	probably damaging	Het
Ptges2	T	C	2: 32,292,318 (GRCm39)	V378A	probably benign	Het
Rcan2	C	T	17: 44,147,216 (GRCm39)	S18F	probably benign	Het
Saxo5	A	T	8: 3,526,309 (GRCm39)	D154V	probably damaging	Het
Sf3b2	C	T	19: 5,324,545 (GRCm39)	R859Q	probably benign	Het
Slc7a1	G	A	5: 148,289,256 (GRCm39)			Het
Spata31d1a	T	A	13: 59,851,448 (GRCm39)	T227S	probably benign	Het
Sptbn2	T	A	19: 4,794,173 (GRCm39)	V1459E	possibly damaging	Het
Srgap2	T	C	1: 131,247,275 (GRCm39)	I586V	probably benign	Het
St6galnac1	G	A	11: 116,657,833 (GRCm39)	R356*	probably null	Het
Tkfc	T	A	19: 10,573,727 (GRCm39)	I229L	probably benign	Het
Tmem132c	T	A	5: 127,436,679 (GRCm39)	L56Q	probably damaging	Het
Togaram2	C	T	17: 72,016,638 (GRCm39)	A665V	probably damaging	Het
Ttn	G	A	2: 76,537,390 (GRCm39)	T34846I	probably benign	Het
Tyr	G	A	7: 87,142,548 (GRCm39)	A4V	probably benign	Het
Ubap2	A	C	4: 41,206,221 (GRCm39)	F549L	probably damaging	Het
Usp2	T	C	9: 44,001,339 (GRCm39)	S294P	probably damaging	Het
Vrk3	A	G	7: 44,407,187 (GRCm39)	N53D	probably damaging	Het
Zfp324	T	C	7: 12,705,142 (GRCm39)	S444P	probably damaging	Het
Zfp597	T	C	16: 3,683,791 (GRCm39)	I322V	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
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
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'- CTTGTCGGCCTACAACCAAC -3'
(R):5'- AGCTGCTATGGGCTTCTTTC -3'

Sequencing Primer
(F):5'- ACAAGGAGACCCTACAATGTATG -3'
(R):5'- GTAGTTACAGGTATGCTCTTCTCC -3'

Posted On

2019-05-13