Mutagenetix > Incidental Mutation

Incidental Mutation 'PIT4515001:Taf6'

556306

Institutional Source

Beutler Lab

Gene Symbol

Taf6

Ensembl Gene

ENSMUSG00000036980

Gene Name

TATA-box binding protein associated factor 6

Synonyms

p80, 80kDa, Taf2e

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

PIT4515001 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

138176879-138185713 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 138180504 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Glutamic Acid at position 287 (K287E)

Ref Sequence

ENSEMBL: ENSMUSP00000048016 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000019662] [ENSMUST00000048698] [ENSMUST00000110936] [ENSMUST00000110937] [ENSMUST00000123415] [ENSMUST00000139276] [ENSMUST00000143241] [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 benign
Transcript: ENSMUST00000048698
AA Change: K287E

PolyPhen 2 Score 0.323 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000048016
Gene: ENSMUSG00000036980
AA Change: K287E

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 benign
Transcript: ENSMUST00000110936
AA Change: K287E

PolyPhen 2 Score 0.323 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000106561
Gene: ENSMUSG00000036980
AA Change: K287E

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 benign
Transcript: ENSMUST00000110937
AA Change: K287E

PolyPhen 2 Score 0.263 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000106562
Gene: ENSMUSG00000036980
AA Change: K287E

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: ENSMUST00000153117

SMART Domains

Protein: ENSMUSP00000138335
Gene: ENSMUSG00000036980

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

Coding Region Coverage

1x: 93.4%
3x: 91.0%
10x: 86.0%
20x: 75.1%

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: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
3425401B19Rik	T	A	14: 32,383,068 (GRCm39)	R966*	probably null	Het
Adam32	A	T	8: 25,404,342 (GRCm39)	I221K	possibly damaging	Het
Adcy6	T	C	15: 98,493,027 (GRCm39)	T880A	probably benign	Het
Agpat5	T	A	8: 18,896,657 (GRCm39)	Y28N	probably damaging	Het
Atg2a	A	G	19: 6,303,615 (GRCm39)	I1125V	probably damaging	Het
B4galt6	A	G	18: 20,821,524 (GRCm39)	Y335H	probably benign	Het
Bend3	A	T	10: 43,386,630 (GRCm39)	E341V	probably damaging	Het
Bltp1	T	A	3: 37,028,385 (GRCm39)	Y2351N	probably damaging	Het
Ccdc136	T	A	6: 29,417,225 (GRCm39)	V682E	probably benign	Het
Ccdc142	T	C	6: 83,080,238 (GRCm39)	C394R	probably benign	Het
Cfap58	A	G	19: 48,023,122 (GRCm39)	N845D	probably benign	Het
Col4a3	G	A	1: 82,660,024 (GRCm39)	G890R	unknown	Het
Cyp1a2	C	A	9: 57,589,242 (GRCm39)	V191L	probably benign	Het
Cyp51	A	T	5: 4,149,122 (GRCm39)		probably null	Het
Diras2	T	C	13: 52,661,783 (GRCm39)	S175G	possibly damaging	Het
Dnah6	A	G	6: 73,091,565 (GRCm39)	F2242S	probably damaging	Het
Erg	T	A	16: 95,210,619 (GRCm39)	N78Y	probably benign	Het
Fdft1	T	A	14: 63,402,032 (GRCm39)	Q49L	probably benign	Het
Frem1	G	T	4: 82,818,663 (GRCm39)	H2183Q	probably damaging	Het
Fut2	G	A	7: 45,299,890 (GRCm39)	T294I	probably damaging	Het
Gabrb1	A	C	5: 71,858,160 (GRCm39)	D62A	probably damaging	Het
Gbe1	T	A	16: 70,238,004 (GRCm39)	Y263*	probably null	Het
Gimap6	T	C	6: 48,679,502 (GRCm39)	D178G	probably benign	Het
Gss	T	A	2: 155,420,261 (GRCm39)	T147S	probably damaging	Het
Hlcs	A	T	16: 94,068,275 (GRCm39)	V315E	probably benign	Het
Hoxa3	C	T	6: 52,147,164 (GRCm39)	G363E	unknown	Het
Ift140	A	G	17: 25,305,834 (GRCm39)	N807S	probably damaging	Het
Iglc1	T	G	16: 18,880,701 (GRCm39)	D40A		Het
Itga10	T	A	3: 96,569,948 (GRCm39)	I1120N	probably damaging	Het
Jak3	T	C	8: 72,132,286 (GRCm39)	V217A	probably benign	Het
Kank2	T	G	9: 21,706,179 (GRCm39)	I280L	probably benign	Het
Kcnk1	G	T	8: 126,752,081 (GRCm39)	G229V	probably damaging	Het
Kpna7	T	C	5: 144,941,862 (GRCm39)	T143A	probably benign	Het
Letmd1	C	T	15: 100,374,683 (GRCm39)	R310C	probably damaging	Het
Mga	G	A	2: 119,746,985 (GRCm39)	V379I	probably damaging	Het
Mto1	T	A	9: 78,364,699 (GRCm39)	Y313N	probably damaging	Het
Muc5ac	G	A	7: 141,361,153 (GRCm39)	C1488Y	probably damaging	Het
Nde1	T	A	16: 13,988,357 (GRCm39)		probably null	Het
Nfatc3	T	C	8: 106,805,835 (GRCm39)	S235P	possibly damaging	Het
Nup88	T	C	11: 70,835,547 (GRCm39)	D602G	probably benign	Het
Or11g25	T	A	14: 50,723,536 (GRCm39)	M207K	probably benign	Het
Or2h1b	A	C	17: 37,462,270 (GRCm39)	S198A	probably benign	Het
Pcnx1	G	A	12: 82,038,561 (GRCm39)	C1309Y		Het
Phldb1	A	G	9: 44,627,257 (GRCm39)	I396T	probably benign	Het
Pramel38	T	C	5: 94,368,831 (GRCm39)	M442T	probably benign	Het
Pramel41	A	C	5: 94,594,694 (GRCm39)	K185Q	probably benign	Het
Prss53	G	A	7: 127,487,963 (GRCm39)	T173I	probably benign	Het
Ptpn11	C	A	5: 121,302,617 (GRCm39)	D156Y	probably damaging	Het
Rfx8	A	G	1: 39,729,265 (GRCm39)	Y167H	probably benign	Het
Rpsa	T	A	9: 119,960,214 (GRCm39)	I259N	probably benign	Het
Rrm2b	G	T	15: 37,947,048 (GRCm39)	D84E	probably benign	Het
Scgb2b19	A	T	7: 32,979,036 (GRCm39)		probably null	Het
Sik3	T	C	9: 46,120,029 (GRCm39)	L706P	probably damaging	Het
Slc4a4	A	T	5: 89,281,112 (GRCm39)	E426D	probably damaging	Het
Slc8a2	C	A	7: 15,874,504 (GRCm39)	L251I	possibly damaging	Het
Tiam1	G	A	16: 89,657,130 (GRCm39)	T702I	probably damaging	Het
Tle1	A	T	4: 72,117,556 (GRCm39)	F35I	possibly damaging	Het
Tle2	A	G	10: 81,422,964 (GRCm39)	Q454R	possibly damaging	Het
Tsc2	T	C	17: 24,840,121 (GRCm39)	N425S	probably benign	Het
Utp3	A	G	5: 88,702,564 (GRCm39)	D31G	probably benign	Het
Vmn1r173	A	T	7: 23,401,911 (GRCm39)	R49*	probably null	Het
Ybx2	T	A	11: 69,831,224 (GRCm39)	V273E	probably benign	Het
Zbtb22	G	A	17: 34,137,672 (GRCm39)	A606T	probably benign	Het
Zcchc8	A	T	5: 123,838,995 (GRCm39)	D514E	probably benign	Het
Zfy2	T	A	Y: 2,117,096 (GRCm39)	I244F	probably benign	Het
Zglp1	T	C	9: 20,977,485 (GRCm39)	N110S	probably benign	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
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
R7505:Taf6	UTSW	5	138,178,207 (GRCm39)	nonsense	probably null
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'- TTACTGCTGGAATGAGCTCATG -3'
(R):5'- ACCCAGGGCTCTATCAGATG -3'

Sequencing Primer
(F):5'- TGGAATGAGCTCATGCACCTG -3'
(R):5'- TATCAGATGCTACCACGGTTCAG -3'

Posted On

2019-06-07