Mutagenetix > Incidental Mutation

Incidental Mutation 'R9379:Taf6'

709854

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

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R9379 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

138176879-138185713 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 138181952 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 92 (I92T)

Ref Sequence

ENSEMBL: ENSMUSP00000048016 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000019662] [ENSMUST00000048698] [ENSMUST00000110934] [ENSMUST00000110936] [ENSMUST00000110937] [ENSMUST00000123415] [ENSMUST00000139276] [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

possibly damaging
Transcript: ENSMUST00000048698
AA Change: I92T

PolyPhen 2 Score 0.591 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000048016
Gene: ENSMUSG00000036980
AA Change: I92T

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: ENSMUST00000110934

SMART Domains

Protein: ENSMUSP00000106559
Gene: ENSMUSG00000036968

Domain	Start	End	E-Value	Type
signal peptide	1	27	N/A	INTRINSIC
Pfam:DUF3456	43	202	3.4e-51	PFAM
low complexity region	218	230	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000110936
AA Change: I92T

PolyPhen 2 Score 0.591 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000106561
Gene: ENSMUSG00000036980
AA Change: I92T

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

possibly damaging
Transcript: ENSMUST00000110937
AA Change: I92T

PolyPhen 2 Score 0.620 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000106562
Gene: ENSMUSG00000036980
AA Change: I92T

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

possibly damaging
Transcript: ENSMUST00000123415
AA Change: I92T

PolyPhen 2 Score 0.591 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000122534
Gene: ENSMUSG00000036980
AA Change: I92T

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 damaging
Transcript: ENSMUST00000153117
AA Change: I92T

PolyPhen 2 Score 0.966 (Sensitivity: 0.77; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000138335
Gene: ENSMUSG00000036980
AA Change: I92T

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.5%

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: 74 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700009N14Rik	A	T	4: 39,451,201 (GRCm39)	I136F	possibly damaging	Het
1700019D03Rik	T	A	1: 52,964,635 (GRCm39)	D31V	probably benign	Het
Abca14	G	T	7: 119,807,202 (GRCm39)	E83*	probably null	Het
Abcc5	T	C	16: 20,152,437 (GRCm39)	T1370A	probably damaging	Het
Ankhd1	T	C	18: 36,777,680 (GRCm39)	V1621A	probably benign	Het
Ano8	T	A	8: 71,936,178 (GRCm39)	Q206L	probably benign	Het
Aox3	A	T	1: 58,208,959 (GRCm39)	I831F	possibly damaging	Het
Atp2a2	T	C	5: 122,611,315 (GRCm39)	I168V	probably benign	Het
Atxn2	G	A	5: 121,885,509 (GRCm39)	V239I	probably damaging	Het
B230219D22Rik	C	A	13: 55,847,283 (GRCm39)	A132E	probably damaging	Het
Btbd17	C	A	11: 114,682,749 (GRCm39)	W321L	possibly damaging	Het
Cacna1i	T	A	15: 80,259,495 (GRCm39)	V1255E	probably damaging	Het
Camsap1	T	C	2: 25,846,318 (GRCm39)	I132V		Het
Chd7	A	G	4: 8,752,210 (GRCm39)	S236G	unknown	Het
Clasp1	CCTGCTGCTGCTGCTG	CCTGCTGCTGCTGCTGCTG	1: 118,509,157 (GRCm39)		probably benign	Het
Clasp1	TGC	TGCCGC	1: 118,509,168 (GRCm39)		probably benign	Het
Col4a1	T	A	8: 11,249,838 (GRCm39)	H1658L	unknown	Het
D630044L22Rik	A	G	17: 26,180,856 (GRCm39)	H102R	possibly damaging	Het
Dact3	G	A	7: 16,620,013 (GRCm39)	V503I	unknown	Het
Dcn	G	T	10: 97,343,643 (GRCm39)	R201L	probably damaging	Het
Dmxl1	T	C	18: 50,024,567 (GRCm39)	V1747A	possibly damaging	Het
Dnajc14	T	A	10: 128,652,743 (GRCm39)		probably null	Het
Dspp	A	T	5: 104,322,760 (GRCm39)		probably null	Het
Ep300	T	C	15: 81,532,760 (GRCm39)	V1666A	unknown	Het
Flvcr2	A	G	12: 85,850,000 (GRCm39)	I429V	probably benign	Het
Gpr158	A	G	2: 21,373,042 (GRCm39)		probably benign	Het
Grip1	G	T	10: 119,780,961 (GRCm39)	L203F	probably damaging	Het
Hoga1	T	C	19: 42,051,697 (GRCm39)	L250P	probably damaging	Het
Htr2b	A	G	1: 86,027,844 (GRCm39)	S221P	probably damaging	Het
Ighv1-24	T	C	12: 114,736,663 (GRCm39)	Y79C	possibly damaging	Het
Katnip	T	C	7: 125,469,848 (GRCm39)	L1439P	probably damaging	Het
Kcnq1	A	G	7: 142,745,169 (GRCm39)	T311A	probably damaging	Het
Kif21a	C	T	15: 90,854,030 (GRCm39)	R779Q	probably damaging	Het
Lilra6	T	C	7: 3,916,166 (GRCm39)	E231G	probably damaging	Het
Lrrc8c	T	A	5: 105,756,356 (GRCm39)	Y710*	probably null	Het
Mixl1	A	G	1: 180,522,258 (GRCm39)	S208P	probably benign	Het
Muc16	T	A	9: 18,557,467 (GRCm39)	Q2942L	unknown	Het
Nicn1	C	T	9: 108,171,708 (GRCm39)	R163C	possibly damaging	Het
Nlrp4e	C	G	7: 23,020,755 (GRCm39)	A414G	probably benign	Het
Nos1	G	C	5: 118,017,402 (GRCm39)	R255P	probably benign	Het
Nup85	T	C	11: 115,469,424 (GRCm39)	I322T	probably benign	Het
Odad1	A	G	7: 45,597,116 (GRCm39)	T456A	probably benign	Het
Odad2	T	C	18: 7,265,089 (GRCm39)	D426G	possibly damaging	Het
Or10n7-ps1	A	G	9: 39,598,114 (GRCm39)	L42P	probably damaging	Het
Or7e169	T	A	9: 19,757,212 (GRCm39)	K234N	possibly damaging	Het
Or8b4	C	T	9: 37,830,447 (GRCm39)	L165F	probably damaging	Het
Or9k2b	A	G	10: 130,016,605 (GRCm39)	M48T	possibly damaging	Het
Osbpl9	A	T	4: 108,940,399 (GRCm39)	H178Q	probably damaging	Het
Parp14	A	G	16: 35,680,853 (GRCm39)	V260A	probably benign	Het
Plxna2	C	T	1: 194,492,474 (GRCm39)	T1777I	probably damaging	Het
Ppp3cb	T	C	14: 20,581,874 (GRCm39)	D47G	probably benign	Het
Pram1	T	C	17: 33,860,441 (GRCm39)	V336A	probably damaging	Het
Prl	T	A	13: 27,243,503 (GRCm39)	I58N	probably damaging	Het
Qrich2	T	C	11: 116,348,934 (GRCm39)	D630G	unknown	Het
Ralgapa1	G	C	12: 55,769,583 (GRCm39)	P803A	probably damaging	Het
Rtcb	A	T	10: 85,779,071 (GRCm39)		probably null	Het
Ryr2	C	T	13: 11,898,002 (GRCm39)	C131Y	probably damaging	Het
Spata7	A	G	12: 98,600,548 (GRCm39)	I54V	probably benign	Het
St6galnac3	A	G	3: 153,215,070 (GRCm39)	V28A	probably benign	Het
Stra6l	A	T	4: 45,849,093 (GRCm39)	T6S	probably benign	Het
Taf4b	C	T	18: 14,946,431 (GRCm39)	T418M	probably damaging	Het
Tcaf2	C	T	6: 42,619,517 (GRCm39)	S170N	probably benign	Het
Tfrc	A	G	16: 32,443,819 (GRCm39)	D541G	probably damaging	Het
Trav13n-3	T	G	14: 53,574,853 (GRCm39)	L32V	probably damaging	Het
Trpa1	T	C	1: 14,966,739 (GRCm39)	T542A	possibly damaging	Het
Ttc39b	A	T	4: 83,189,376 (GRCm39)	S53T	probably benign	Het
Tut7	T	C	13: 59,936,288 (GRCm39)	Y1271C	possibly damaging	Het
Ubap2	A	T	4: 41,216,630 (GRCm39)	S268T	possibly damaging	Het
Usp40	A	G	1: 87,881,889 (GRCm39)	V998A	probably benign	Het
Usp44	T	A	10: 93,688,635 (GRCm39)	I562K	possibly damaging	Het
Vmn2r106	T	C	17: 20,496,066 (GRCm39)	T553A	probably damaging	Het
Vmn2r65	A	G	7: 84,596,650 (GRCm39)	V135A	probably damaging	Het
Wbp2nl	T	A	15: 82,198,311 (GRCm39)	S283T	possibly damaging	Het
Wnk1	G	A	6: 119,928,678 (GRCm39)	T1092I	probably 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
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
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'- AAGTTCCTCCCAGTCACACG -3'
(R):5'- TTCATGCACATGGGGAAACG -3'

Sequencing Primer
(F):5'- CCCAGTCACACGCTTGC -3'
(R):5'- ACTACCAGTGACATTGACTATGC -3'

Posted On

2022-04-18