Mutagenetix > Incidental Mutation

Incidental Mutation 'R4973:Taf6'

382370

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

042568-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R4973 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

138176879-138185713 bp(-) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

G to A at 138181465 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Stop codon at position 156 (Q156*)

Ref Sequence

ENSEMBL: ENSMUSP00000122534 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000019662] [ENSMUST00000048698] [ENSMUST00000110934] [ENSMUST00000110936] [ENSMUST00000110937] [ENSMUST00000123415] [ENSMUST00000143241] [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

probably null
Transcript: ENSMUST00000048698
AA Change: Q156*

SMART Domains

Protein: ENSMUSP00000048016
Gene: ENSMUSG00000036980
AA Change: Q156*

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

probably null
Transcript: ENSMUST00000110936
AA Change: Q156*

SMART Domains

Protein: ENSMUSP00000106561
Gene: ENSMUSG00000036980
AA Change: Q156*

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: Q156*

SMART Domains

Protein: ENSMUSP00000106562
Gene: ENSMUSG00000036980
AA Change: Q156*

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 null
Transcript: ENSMUST00000123415
AA Change: Q156*

SMART Domains

Protein: ENSMUSP00000122534
Gene: ENSMUSG00000036980
AA Change: Q156*

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

noncoding transcript
Transcript: ENSMUST00000130473

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000134100

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000200483

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: 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: ENSMUST00000153117

SMART Domains

Protein: ENSMUSP00000138335
Gene: ENSMUSG00000036980

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

Meta Mutation Damage Score

0.9755

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.8%
20x: 93.9%

Validation Efficiency

97% (115/118)

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: 112 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
6820408C15Rik	T	A	2: 152,282,808 (GRCm39)	I221K	possibly damaging	Het
Abhd16a	T	A	17: 35,321,318 (GRCm39)	S498T	probably benign	Het
Adamts18	G	A	8: 114,463,357 (GRCm39)	R830*	probably null	Het
Ankrd27	A	G	7: 35,332,417 (GRCm39)	D848G	probably benign	Het
Art3	A	G	5: 92,551,478 (GRCm39)	Y279C	probably damaging	Het
Atp2c2	A	G	8: 120,481,002 (GRCm39)	T797A	probably benign	Het
Ccdc121rt1	A	T	1: 181,338,829 (GRCm39)	V41E	possibly damaging	Het
Ccdc122	A	T	14: 77,305,381 (GRCm39)	I12F	possibly damaging	Het
Ccdc154	T	C	17: 25,389,888 (GRCm39)	L508P	probably damaging	Het
Cdk5r2	A	G	1: 74,894,831 (GRCm39)	D192G	probably damaging	Het
Cgn	C	T	3: 94,685,564 (GRCm39)	A320T	probably benign	Het
Cklf	A	G	8: 104,988,184 (GRCm39)	K106E	probably benign	Het
Clec12a	C	A	6: 129,330,628 (GRCm39)	T70K	probably benign	Het
Clock	A	G	5: 76,402,258 (GRCm39)	V134A	possibly damaging	Het
CN725425	G	A	15: 91,129,904 (GRCm39)	A256T	possibly damaging	Het
Csf1r	A	T	18: 61,262,119 (GRCm39)	I792F	probably damaging	Het
Csn1s1	T	G	5: 87,821,120 (GRCm39)	S33A	probably benign	Het
Cspp1	T	A	1: 10,196,688 (GRCm39)	N900K	probably damaging	Het
D5Ertd579e	A	G	5: 36,830,249 (GRCm39)	V25A	probably benign	Het
D630045J12Rik	C	T	6: 38,125,302 (GRCm39)	V1571M	possibly damaging	Het
Ddx5	C	A	11: 106,675,833 (GRCm39)	V286L	possibly damaging	Het
Deup1	G	A	9: 15,523,310 (GRCm39)	Q58*	probably null	Het
Dnhd1	T	G	7: 105,362,840 (GRCm39)	L3801V	probably benign	Het
Dph2	T	A	4: 117,748,527 (GRCm39)	D82V	probably damaging	Het
Ercc6	A	G	14: 32,296,859 (GRCm39)	D1283G	probably damaging	Het
Evi5l	G	T	8: 4,255,406 (GRCm39)	V477L	probably benign	Het
Fam91a1	A	G	15: 58,303,059 (GRCm39)	T323A	probably benign	Het
Fanca	G	A	8: 124,035,261 (GRCm39)	T228M	probably damaging	Het
Fat4	T	G	3: 39,037,195 (GRCm39)	S3616A	probably benign	Het
Fbxo16	G	T	14: 65,558,746 (GRCm39)	A302S	probably benign	Het
Fkbp5	T	C	17: 28,647,343 (GRCm39)	E164G	probably damaging	Het
Fpr-rs3	T	C	17: 20,844,211 (GRCm39)	Y310C	possibly damaging	Het
Fsip2	T	C	2: 82,815,169 (GRCm39)	I3634T	probably benign	Het
Gm6327	T	C	16: 12,578,845 (GRCm39)		noncoding transcript	Het
Gnl3	A	T	14: 30,735,462 (GRCm39)	N411K	possibly damaging	Het
Golga1	A	T	2: 38,929,118 (GRCm39)	D308E	probably damaging	Het
Gpbar1	TACCAC	TAC	1: 74,318,704 (GRCm39)		probably benign	Het
Gsap	A	T	5: 21,459,037 (GRCm39)	T501S	probably benign	Het
Helq	A	G	5: 100,940,737 (GRCm39)		probably benign	Het
Hmcn2	A	G	2: 31,234,108 (GRCm39)	H291R	probably benign	Het
Htt	A	T	5: 34,970,367 (GRCm39)	D505V	probably damaging	Het
Ildr1	C	T	16: 36,528,660 (GRCm39)	T35I	probably benign	Het
Iqgap2	A	G	13: 95,794,305 (GRCm39)		probably null	Het
Kansl1	C	T	11: 104,315,147 (GRCm39)	R297H	probably damaging	Het
Kat2b-ps	T	C	5: 93,539,644 (GRCm39)		noncoding transcript	Het
Kbtbd2	A	G	6: 56,758,943 (GRCm39)	F60S	probably benign	Het
Kcnt2	A	T	1: 140,537,388 (GRCm39)	S1116C	probably damaging	Het
Krt9	C	T	11: 100,079,538 (GRCm39)	G618E	unknown	Het
Lsm5	A	T	6: 56,680,309 (GRCm39)	D44E	probably damaging	Het
Mdn1	A	G	4: 32,734,418 (GRCm39)	D3275G	probably benign	Het
Mindy2	A	T	9: 70,512,453 (GRCm39)	V599E	possibly damaging	Het
Nelfa	A	G	5: 34,059,162 (GRCm39)	V231A	probably benign	Het
Nepro	T	C	16: 44,555,156 (GRCm39)	Y411H	probably benign	Het
Nes	T	A	3: 87,882,983 (GRCm39)	L414Q	probably damaging	Het
Neurl2	T	A	2: 164,675,122 (GRCm39)		probably null	Het
Nkx1-1	G	T	5: 33,588,410 (GRCm39)	Q293K	possibly damaging	Het
Nphp3	C	T	9: 103,909,198 (GRCm39)	H803Y	probably benign	Het
Obscn	A	G	11: 59,023,292 (GRCm39)	V695A	probably damaging	Het
Or10v5	A	G	19: 11,806,300 (GRCm39)	L30P	probably benign	Het
Or12d15	G	A	17: 37,693,910 (GRCm39)	A151T	probably damaging	Het
Or2f1	T	C	6: 42,721,621 (GRCm39)	S217P	probably damaging	Het
Or2t48	T	C	11: 58,419,903 (GRCm39)	E303G	probably benign	Het
Or4c106	T	C	2: 88,682,516 (GRCm39)	V74A	possibly damaging	Het
Or4f17-ps1	T	A	2: 111,357,969 (GRCm39)	F103L	probably damaging	Het
Or4p7	T	A	2: 88,221,674 (GRCm39)	L28I	probably benign	Het
Or7g35	A	G	9: 19,496,504 (GRCm39)	T224A	probably benign	Het
Or8d2b	A	G	9: 38,789,400 (GRCm39)	*309W	probably null	Het
Orai3	T	A	7: 127,373,348 (GRCm39)	L283Q	probably damaging	Het
Pcdhb13	A	T	18: 37,576,237 (GRCm39)	D205V	probably benign	Het
Pdlim5	G	A	3: 142,017,740 (GRCm39)		probably benign	Het
Pdzd2	A	G	15: 12,375,734 (GRCm39)	V1467A	probably damaging	Het
Pgm3	A	G	9: 86,444,732 (GRCm39)	S268P	probably benign	Het
Piezo2	A	T	18: 63,207,751 (GRCm39)	I1420N	probably damaging	Het
Pigp	C	A	16: 94,160,006 (GRCm39)	G134V	probably benign	Het
Pik3c2g	T	C	6: 139,789,657 (GRCm39)	Y385H	possibly damaging	Het
Pnliprp2	G	A	19: 58,754,750 (GRCm39)	E265K	probably benign	Het
Psmd13	T	A	7: 140,466,766 (GRCm39)	Y117*	probably null	Het
Ptprq	C	T	10: 107,522,416 (GRCm39)	V546I	probably damaging	Het
Pum1	T	G	4: 130,396,448 (GRCm39)	S68A	probably benign	Het
Rnf167	T	A	11: 70,540,701 (GRCm39)		probably benign	Het
Rnf213	T	C	11: 119,318,983 (GRCm39)	V1148A	possibly damaging	Het
Rnf216	T	C	5: 143,076,071 (GRCm39)	E271G	probably benign	Het
Ros1	A	T	10: 52,031,087 (GRCm39)	I506N	probably damaging	Het
Rpl37	G	A	15: 5,147,128 (GRCm39)	R56Q	possibly damaging	Het
Rpl41	A	C	10: 128,384,576 (GRCm39)		probably benign	Het
Rttn	A	T	18: 89,060,292 (GRCm39)	H998L	probably damaging	Het
Sacs	G	T	14: 61,450,571 (GRCm39)	A4206S	probably damaging	Het
Slc22a14	CTTTCCTGAA	C	9: 119,003,101 (GRCm39)		probably benign	Het
Slc36a3	T	C	11: 55,037,630 (GRCm39)		probably benign	Het
Slc39a3	A	T	10: 80,866,796 (GRCm39)	W317R	probably damaging	Het
Snd1	C	A	6: 28,884,250 (GRCm39)	Y766*	probably null	Het
Snrpd1	T	C	18: 10,626,835 (GRCm39)	V34A	probably benign	Het
Spire2	T	A	8: 124,083,583 (GRCm39)	I189N	probably damaging	Het
Stard6	A	C	18: 70,631,631 (GRCm39)	D74A	possibly damaging	Het
Sufu	C	T	19: 46,463,991 (GRCm39)	T401I	possibly damaging	Het
Taar7b	T	A	10: 23,876,243 (GRCm39)	F136Y	probably benign	Het
Tcp11l2	A	G	10: 84,427,027 (GRCm39)	I164V	probably damaging	Het
Tead4	T	C	6: 128,247,950 (GRCm39)	D29G	probably damaging	Het
Tns4	G	T	11: 98,966,039 (GRCm39)	P448Q	probably damaging	Het
Trappc9	G	T	15: 72,808,905 (GRCm39)	N540K	probably damaging	Het
Trbv28	C	T	6: 41,248,788 (GRCm39)	S106F	probably damaging	Het
Usp16	T	A	16: 87,277,802 (GRCm39)	M684K	probably damaging	Het
Usp45	A	T	4: 21,815,372 (GRCm39)	T362S	probably damaging	Het
Vcan	A	T	13: 89,836,961 (GRCm39)	M2861K	probably benign	Het
Vps8	T	C	16: 21,278,536 (GRCm39)	S267P	probably damaging	Het
Wdfy3	C	T	5: 102,090,985 (GRCm39)	D532N	probably benign	Het
Zbtb34	T	A	2: 33,301,626 (GRCm39)	Q305L	probably benign	Het
Zfp267	C	T	3: 36,218,285 (GRCm39)	R102C	possibly damaging	Het
Zfp352	T	A	4: 90,112,376 (GRCm39)	V172E	probably benign	Het
Zfp454	T	C	11: 50,764,950 (GRCm39)	N161D	probably benign	Het
Zfp804b	A	T	5: 6,821,198 (GRCm39)	S622T	probably damaging	Het
Zswim4	G	T	8: 84,938,852 (GRCm39)	A1010D	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
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
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'- TGCAACTCTTCTATAGGCGTCTG -3'
(R):5'- CAGCTCATTGGCTAAGCATCG -3'

Sequencing Primer
(F):5'- GGCCTCATCCACTTCACTGAGG -3'
(R):5'- CTCATTGGCTAAGCATCGAAGGC -3'

Posted On

2016-04-27