Mutagenetix > Incidental Mutation

Incidental Mutation 'R7505:Taf6'

581721

Institutional Source

Beutler Lab

Gene Symbol

Taf6

Ensembl Gene

ENSMUSG00000036980

Gene Name

TATA-box binding protein associated factor 6

Synonyms

p80, 80kDa, Taf2e

MMRRC Submission

045578-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7505 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

138176879-138185713 bp(-) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

A to T at 138178207 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Stop codon at position 431 (C431*)

Ref Sequence

ENSEMBL: ENSMUSP00000048016 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000019662] [ENSMUST00000048698] [ENSMUST00000110936] [ENSMUST00000110937] [ENSMUST00000123415] [ENSMUST00000139276] [ENSMUST00000143241] [ENSMUST00000151318] [ENSMUST00000153117]

AlphaFold

Q62311

Predicted Effect

probably benign
Transcript: ENSMUST00000019662

SMART Domains

Protein: ENSMUSP00000019662
Gene: ENSMUSG00000019518

Domain	Start	End	E-Value	Type
SCOP:d1gw5m2	1	142	2e-49	SMART
Pfam:Adap_comp_sub	173	449	2.5e-63	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000048698
AA Change: C431*

SMART Domains

Protein: ENSMUSP00000048016
Gene: ENSMUSG00000036980
AA Change: C431*

Domain	Start	End	E-Value	Type
TAF	12	78	1.44e-35	SMART
low complexity region	142	161	N/A	INTRINSIC
low complexity region	179	197	N/A	INTRINSIC
Pfam:DUF1546	308	399	1e-35	PFAM
low complexity region	466	476	N/A	INTRINSIC
low complexity region	523	535	N/A	INTRINSIC
low complexity region	542	578	N/A	INTRINSIC
low complexity region	586	602	N/A	INTRINSIC
low complexity region	615	646	N/A	INTRINSIC
low complexity region	665	676	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000110936
AA Change: C431*

SMART Domains

Protein: ENSMUSP00000106561
Gene: ENSMUSG00000036980
AA Change: C431*

Domain	Start	End	E-Value	Type
TAF	12	78	1.44e-35	SMART
low complexity region	142	161	N/A	INTRINSIC
low complexity region	179	197	N/A	INTRINSIC
Pfam:TAF6_C	308	397	1.1e-33	PFAM
low complexity region	466	476	N/A	INTRINSIC
low complexity region	523	535	N/A	INTRINSIC
low complexity region	542	578	N/A	INTRINSIC
low complexity region	586	602	N/A	INTRINSIC
low complexity region	615	646	N/A	INTRINSIC
low complexity region	665	676	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000110937
AA Change: C431*

SMART Domains

Protein: ENSMUSP00000106562
Gene: ENSMUSG00000036980
AA Change: C431*

Domain	Start	End	E-Value	Type
TAF	12	78	1.44e-35	SMART
low complexity region	142	161	N/A	INTRINSIC
low complexity region	179	197	N/A	INTRINSIC
Pfam:DUF1546	308	399	1.9e-36	PFAM
low complexity region	466	476	N/A	INTRINSIC
low complexity region	523	535	N/A	INTRINSIC
low complexity region	542	549	N/A	INTRINSIC
low complexity region	559	576	N/A	INTRINSIC
low complexity region	606	615	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000123415

SMART Domains

Protein: ENSMUSP00000122534
Gene: ENSMUSG00000036980

Domain	Start	End	E-Value	Type
TAF	12	78	1.44e-35	SMART
low complexity region	142	161	N/A	INTRINSIC
low complexity region	179	197	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000139276

SMART Domains

Protein: ENSMUSP00000116512
Gene: ENSMUSG00000036980

Domain	Start	End	E-Value	Type
Pfam:TAF	11	55	2.5e-22	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000143241

SMART Domains

Protein: ENSMUSP00000123770
Gene: ENSMUSG00000019518

Domain	Start	End	E-Value	Type
SCOP:d1gw5m2	1	86	2e-25	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000151318

SMART Domains

Protein: ENSMUSP00000121338
Gene: ENSMUSG00000019518

Domain	Start	End	E-Value	Type
Pfam:Clat_adaptor_s	47	153	3.6e-8	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000153117

SMART Domains

Protein: ENSMUSP00000138335
Gene: ENSMUSG00000036980

Domain	Start	End	E-Value	Type
TAF	12	78	1.44e-35	SMART

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.1%

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 one of the smaller subunits of TFIID that binds weakly to TBP but strongly to TAF1, the largest subunit of TFIID. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jun 2010]
PHENOTYPE: Mice homozygous for a transgenic gene disruption may exhibit preimplantation lethality. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 72 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcd2	T	A	15: 91,033,260 (GRCm39)	N719Y	possibly damaging	Het
Adamts2	T	C	11: 50,687,347 (GRCm39)	I1058T	probably benign	Het
Alb	T	A	5: 90,617,368 (GRCm39)	Y356N	probably damaging	Het
Ankrd52	A	G	10: 128,225,924 (GRCm39)	N971D	probably damaging	Het
Atp6v1c2	A	G	12: 17,347,724 (GRCm39)		probably null	Het
Atp6v1h	A	T	1: 5,194,561 (GRCm39)	I247L	probably benign	Het
Cacna1s	C	T	1: 136,013,187 (GRCm39)	R593*	probably null	Het
Cacna2d3	C	T	14: 28,767,501 (GRCm39)		probably null	Het
Cdh15	G	A	8: 123,575,231 (GRCm39)	G2D	probably benign	Het
Cebpe	G	T	14: 54,948,113 (GRCm39)	N243K	probably damaging	Het
Celf2	A	T	2: 6,629,511 (GRCm39)	M136K	probably damaging	Het
Cep290	A	G	10: 100,352,127 (GRCm39)	I778V	probably benign	Het
Col22a1	A	T	15: 71,671,248 (GRCm39)	C1592*	probably null	Het
Cpne2	A	T	8: 95,275,094 (GRCm39)	N34I	possibly damaging	Het
Cps1	A	G	1: 67,219,240 (GRCm39)	N860S	probably benign	Het
Disp2	T	G	2: 118,621,569 (GRCm39)	L767R	probably damaging	Het
Eif1ad19	A	T	12: 87,740,270 (GRCm39)	N96K	probably benign	Het
Evpl	A	G	11: 116,117,813 (GRCm39)		probably null	Het
F7	A	T	8: 13,078,745 (GRCm39)	N59Y	possibly damaging	Het
Fam98a	A	T	17: 75,845,233 (GRCm39)	H504Q	unknown	Het
Fbxo4	G	A	15: 4,000,903 (GRCm39)	R270C	probably benign	Het
Fcgbp	T	C	7: 27,789,099 (GRCm39)	V555A	probably damaging	Het
Fgf4	T	C	7: 144,415,498 (GRCm39)	V86A	possibly damaging	Het
Fpgt	G	T	3: 154,792,413 (GRCm39)	A538D	possibly damaging	Het
Gars1	A	G	6: 55,029,162 (GRCm39)	T181A	probably benign	Het
Gask1a	G	C	9: 121,805,483 (GRCm39)	G425R	probably benign	Het
Gbx2	A	G	1: 89,856,455 (GRCm39)	S312P	probably benign	Het
Gm29735	C	T	7: 141,710,327 (GRCm39)	C175Y	unknown	Het
Gm7995	A	G	14: 42,132,314 (GRCm39)	T49A		Het
Hnrnpk	A	G	13: 58,547,783 (GRCm39)	M27T	probably benign	Het
Idh3b	A	G	2: 130,126,147 (GRCm39)	S20P	probably benign	Het
Idh3b	G	C	2: 130,126,153 (GRCm39)	R18G	probably benign	Het
Ighg2b	T	A	12: 113,268,600 (GRCm39)	T354S		Het
Lrfn2	T	A	17: 49,403,479 (GRCm39)	M534K	probably benign	Het
Mcpt8	G	A	14: 56,320,548 (GRCm39)	A127V	probably benign	Het
Msi2	A	T	11: 88,304,743 (GRCm39)	N176K	possibly damaging	Het
Mtr	G	T	13: 12,236,362 (GRCm39)	D621E	probably benign	Het
Nlrp5	T	A	7: 23,106,925 (GRCm39)	I63N	probably benign	Het
Nol6	T	C	4: 41,120,352 (GRCm39)	D455G	probably damaging	Het
Nrde2	A	T	12: 100,098,757 (GRCm39)	S637T	probably benign	Het
Ntn4	G	T	10: 93,543,146 (GRCm39)	G291W	probably damaging	Het
Or13a28	C	A	7: 140,217,965 (GRCm39)	T117K	probably damaging	Het
Or4d10	T	A	19: 12,051,969 (GRCm39)	E9V	possibly damaging	Het
Otof	T	A	5: 30,528,364 (GRCm39)	T1865S	probably benign	Het
Plec	A	T	15: 76,065,394 (GRCm39)	S1559T	unknown	Het
Plekhm1	C	T	11: 103,270,855 (GRCm39)		probably null	Het
Plin4	T	A	17: 56,416,357 (GRCm39)	Q49L	possibly damaging	Het
Polrmt	A	G	10: 79,573,717 (GRCm39)	F995L	probably benign	Het
Polrmt	A	G	10: 79,579,010 (GRCm39)		probably null	Het
Pramel16	A	G	4: 143,676,273 (GRCm39)	I277T	possibly damaging	Het
Pramel28	C	T	4: 143,691,556 (GRCm39)	C389Y	probably benign	Het
Rims1	T	C	1: 22,573,077 (GRCm39)	T375A	possibly damaging	Het
Ryr3	A	T	2: 112,542,774 (GRCm39)	M3145K	probably damaging	Het
S100a11	A	G	3: 93,433,339 (GRCm39)	K61R	probably benign	Het
Sar1a	A	G	10: 61,527,073 (GRCm39)	T164A	probably benign	Het
Sec31b	C	T	19: 44,532,146 (GRCm39)	A25T	probably damaging	Het
Smpd2	A	G	10: 41,363,350 (GRCm39)	V371A	probably benign	Het
Speer1g	T	A	5: 11,181,135 (GRCm39)	Y141N	possibly damaging	Het
Spg11	A	T	2: 121,905,832 (GRCm39)	L1271*	probably null	Het
Svep1	T	C	4: 58,115,862 (GRCm39)	T944A	possibly damaging	Het
Tdrd6	A	G	17: 43,938,570 (GRCm39)	V826A	not run	Het
Tent4a	G	T	13: 69,655,047 (GRCm39)	P476T	probably damaging	Het
Tmem132a	A	G	19: 10,836,037 (GRCm39)	V831A	probably damaging	Het
Tnfrsf8	T	G	4: 144,995,685 (GRCm39)	D458A	probably damaging	Het
Trpv5	A	G	6: 41,651,590 (GRCm39)	I196T	probably damaging	Het
Ttn	T	A	2: 76,608,898 (GRCm39)	D17706V	probably damaging	Het
Uimc1	T	C	13: 55,223,444 (GRCm39)	Y276C	probably damaging	Het
Usp24	T	A	4: 106,236,276 (GRCm39)	I988K	probably damaging	Het
Vmn2r74	T	A	7: 85,606,279 (GRCm39)	R356*	probably null	Het
Wdr37	A	T	13: 8,869,971 (GRCm39)	H429Q	probably damaging	Het
Wwc2	A	T	8: 48,333,185 (GRCm39)	L277Q	probably damaging	Het
Zscan12	T	A	13: 21,552,756 (GRCm39)	N193K	possibly damaging	Het

Other mutations in Taf6

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02208:Taf6	APN	5	138,179,169 (GRCm39)	missense	probably damaging	1.00
IGL02445:Taf6	APN	5	138,182,756 (GRCm39)	utr 5 prime	probably benign
IGL02734:Taf6	APN	5	138,182,118 (GRCm39)	missense	possibly damaging	0.82
IGL02861:Taf6	APN	5	138,182,147 (GRCm39)	missense	probably damaging	1.00
IGL02983:Taf6	APN	5	138,177,142 (GRCm39)	missense	probably benign
PIT4515001:Taf6	UTSW	5	138,180,504 (GRCm39)	missense	probably benign	0.32
R0189:Taf6	UTSW	5	138,180,975 (GRCm39)	missense	probably benign	0.00
R0344:Taf6	UTSW	5	138,179,409 (GRCm39)	missense	probably benign	0.09
R0567:Taf6	UTSW	5	138,181,988 (GRCm39)	splice site	probably null
R1082:Taf6	UTSW	5	138,180,949 (GRCm39)	missense	possibly damaging	0.92
R2375:Taf6	UTSW	5	138,180,463 (GRCm39)	nonsense	probably null
R4466:Taf6	UTSW	5	138,179,463 (GRCm39)	splice site	probably benign
R4845:Taf6	UTSW	5	138,180,909 (GRCm39)	missense	possibly damaging	0.83
R4959:Taf6	UTSW	5	138,181,465 (GRCm39)	nonsense	probably null
R4973:Taf6	UTSW	5	138,181,465 (GRCm39)	nonsense	probably null
R5059:Taf6	UTSW	5	138,177,709 (GRCm39)	missense	probably benign	0.15
R5232:Taf6	UTSW	5	138,178,214 (GRCm39)	missense	possibly damaging	0.80
R7211:Taf6	UTSW	5	138,177,088 (GRCm39)	missense	possibly damaging	0.53
R7776:Taf6	UTSW	5	138,180,282 (GRCm39)	missense	probably damaging	1.00
R8163:Taf6	UTSW	5	138,180,238 (GRCm39)	missense	possibly damaging	0.83
R8278:Taf6	UTSW	5	138,178,097 (GRCm39)	missense	probably benign	0.12
R8464:Taf6	UTSW	5	138,180,924 (GRCm39)	missense	probably damaging	1.00
R8910:Taf6	UTSW	5	138,182,716 (GRCm39)	missense	probably benign	0.06
R9074:Taf6	UTSW	5	138,180,465 (GRCm39)	missense	probably damaging	1.00
R9157:Taf6	UTSW	5	138,179,221 (GRCm39)	missense	possibly damaging	0.73
R9161:Taf6	UTSW	5	138,178,160 (GRCm39)	missense	probably benign	0.00
R9254:Taf6	UTSW	5	138,181,952 (GRCm39)	missense	possibly damaging	0.59
R9379:Taf6	UTSW	5	138,181,952 (GRCm39)	missense	possibly damaging	0.59
R9447:Taf6	UTSW	5	138,176,970 (GRCm39)	makesense	probably null
X0019:Taf6	UTSW	5	138,180,462 (GRCm39)	critical splice donor site	probably null

Predicted Primers

PCR Primer
(F):5'- TGCTGGCTATGACAAACGCTATC -3'
(R):5'- TTTGAGATACGCCACCTGCTC -3'

Sequencing Primer
(F):5'- GGGTACATTTCCTCCCTCAGCAG -3'
(R):5'- TGCTCAGGCTAGCCTAGAACTC -3'

Posted On

2019-10-17