Mutagenetix > Incidental Mutation

Incidental Mutation 'R4959:Taf6'

382146

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

042556-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R4959 (G1)

Quality Score

225

Status

Not 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: 98.2%
10x: 95.6%
20x: 89.7%

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: 99 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2700049A03Rik	A	T	12: 71,211,321 (GRCm39)	E685V	possibly damaging	Het
2700049A03Rik	G	T	12: 71,211,320 (GRCm39)	E685*	probably null	Het
6820408C15Rik	T	A	2: 152,282,808 (GRCm39)	I221K	possibly damaging	Het
Aadacl3	A	T	4: 144,183,656 (GRCm39)	C136S	probably benign	Het
Abhd16a	T	A	17: 35,321,318 (GRCm39)	S498T	probably benign	Het
Acrv1	G	A	9: 36,605,996 (GRCm39)		probably null	Het
Adamts18	G	A	8: 114,463,357 (GRCm39)	R830*	probably null	Het
Art3	A	G	5: 92,551,478 (GRCm39)	Y279C	probably damaging	Het
Atm	A	T	9: 53,426,601 (GRCm39)	D552E	probably benign	Het
Ccdc154	T	C	17: 25,389,888 (GRCm39)	L508P	probably damaging	Het
Ccser2	A	T	14: 36,662,753 (GRCm39)	S144T	probably benign	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
CN725425	G	A	15: 91,129,904 (GRCm39)	A256T	possibly damaging	Het
Crb2	G	T	2: 37,680,482 (GRCm39)	R470L	probably damaging	Het
Csn1s1	T	G	5: 87,821,120 (GRCm39)	S33A	probably benign	Het
D630045J12Rik	C	T	6: 38,125,302 (GRCm39)	V1571M	possibly damaging	Het
Deup1	G	A	9: 15,523,310 (GRCm39)	Q58*	probably null	Het
Dph2	T	A	4: 117,748,527 (GRCm39)	D82V	probably damaging	Het
Dsp	C	T	13: 38,375,686 (GRCm39)	A1157V	probably benign	Het
Evi5l	G	T	8: 4,255,406 (GRCm39)	V477L	probably benign	Het
Fam187b	T	A	7: 30,681,687 (GRCm39)	H131Q	probably damaging	Het
Fam193b	A	G	13: 55,691,097 (GRCm39)	I259T	probably damaging	Het
Fam91a1	A	G	15: 58,303,059 (GRCm39)	T323A	probably benign	Het
Fat4	T	G	3: 39,037,195 (GRCm39)	S3616A	probably benign	Het
Fbxo38	A	T	18: 62,655,578 (GRCm39)	N369K	probably benign	Het
Fitm1	T	A	14: 55,813,831 (GRCm39)		probably null	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
Fryl	A	T	5: 73,192,401 (GRCm39)	M2678K	probably benign	Het
Fsip2	T	C	2: 82,815,169 (GRCm39)	I3634T	probably benign	Het
Gm3233	T	C	10: 77,595,399 (GRCm39)		probably benign	Het
Gzmd	T	G	14: 56,369,955 (GRCm39)	T9P	unknown	Het
Htr2b	A	T	1: 86,027,813 (GRCm39)	I231N	probably damaging	Het
Il2ra	A	G	2: 11,681,664 (GRCm39)	T90A	possibly damaging	Het
Kbtbd2	A	G	6: 56,758,943 (GRCm39)	F60S	probably benign	Het
Kif21b	G	A	1: 136,076,108 (GRCm39)	C299Y	possibly damaging	Het
Lsm5	A	T	6: 56,680,309 (GRCm39)	D44E	probably damaging	Het
Mapk1	T	A	16: 16,836,170 (GRCm39)	M106K	probably damaging	Het
Mpp2	A	G	11: 101,954,117 (GRCm39)	V193A	probably damaging	Het
Muc4	T	C	16: 32,575,437 (GRCm39)	S1398P	possibly damaging	Het
Ndufs2	A	G	1: 171,065,578 (GRCm39)	Y282H	probably damaging	Het
Nes	T	A	3: 87,882,983 (GRCm39)	L414Q	probably damaging	Het
Neurl2	T	A	2: 164,675,122 (GRCm39)		probably null	Het
Ngef	A	G	1: 87,431,070 (GRCm39)	F159S	possibly damaging	Het
Nlrx1	T	C	9: 44,165,448 (GRCm39)	H816R	possibly damaging	Het
Or10v5	A	G	19: 11,806,300 (GRCm39)	L30P	probably benign	Het
Or1e22	A	T	11: 73,376,893 (GRCm39)	Y252*	probably null	Het
Or2f1	T	C	6: 42,721,621 (GRCm39)	S217P	probably damaging	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
Pcgf2	A	T	11: 97,582,515 (GRCm39)	Y7N	possibly damaging	Het
Pdlim5	G	A	3: 142,017,740 (GRCm39)		probably benign	Het
Pdzd2	A	G	15: 12,375,734 (GRCm39)	V1467A	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
Prl3c1	G	T	13: 27,386,471 (GRCm39)		probably null	Het
Ptpn4	A	T	1: 119,692,826 (GRCm39)	Y110*	probably null	Het
Ptprq	C	T	10: 107,522,416 (GRCm39)	V546I	probably damaging	Het
Rd3l	C	T	12: 111,946,578 (GRCm39)		probably null	Het
Rpl37	G	A	15: 5,147,128 (GRCm39)	R56Q	possibly damaging	Het
Rttn	A	T	18: 89,060,292 (GRCm39)	H998L	probably damaging	Het
Rufy1	A	T	11: 50,292,315 (GRCm39)	F491L	probably benign	Het
Simc1	T	G	13: 54,673,131 (GRCm39)	V493G	possibly damaging	Het
Slc22a14	CTTTCCTGAA	C	9: 119,003,101 (GRCm39)		probably benign	Het
Slc25a46	A	T	18: 31,735,807 (GRCm39)	I144N	possibly damaging	Het
Smtn	A	T	11: 3,477,825 (GRCm39)	M1K	probably null	Het
Snd1	C	A	6: 28,884,250 (GRCm39)	Y766*	probably null	Het
Spata31d1d	C	T	13: 59,875,102 (GRCm39)	G811D	probably damaging	Het
Spta1	A	C	1: 174,074,174 (GRCm39)	D2371A	probably damaging	Het
Stard6	A	C	18: 70,631,631 (GRCm39)	D74A	possibly damaging	Het
Stim2	G	T	5: 54,262,712 (GRCm39)	R318L	probably benign	Het
Sufu	C	T	19: 46,463,991 (GRCm39)	T401I	possibly damaging	Het
Suz12	G	A	11: 79,920,057 (GRCm39)	G539D	probably damaging	Het
Sytl2	C	G	7: 90,025,245 (GRCm39)	S411C	probably damaging	Het
Tead4	T	C	6: 128,247,950 (GRCm39)	D29G	probably damaging	Het
Thada	T	C	17: 84,751,611 (GRCm39)	Y455C	probably damaging	Het
Tlr6	G	C	5: 65,111,002 (GRCm39)	T635S	possibly damaging	Het
Tlr9	A	G	9: 106,101,876 (GRCm39)	D389G	probably benign	Het
Tmem54	A	T	4: 129,002,073 (GRCm39)	H40L	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
Trrap	A	T	5: 144,793,770 (GRCm39)	H3384L	probably damaging	Het
Usp16	T	A	16: 87,277,802 (GRCm39)	M684K	probably damaging	Het
Vat1	G	A	11: 101,351,426 (GRCm39)	T305M	probably damaging	Het
Vmn2r85	A	G	10: 130,257,302 (GRCm39)	S544P	probably damaging	Het
Vps8	T	C	16: 21,278,536 (GRCm39)	S267P	probably damaging	Het
Ylpm1	T	A	12: 85,096,719 (GRCm39)	V1242E	probably damaging	Het
Zfp267	C	T	3: 36,218,285 (GRCm39)	R102C	possibly damaging	Het
Zfp322a	T	C	13: 23,541,052 (GRCm39)	Y230C	probably damaging	Het
Zfp352	T	A	4: 90,112,376 (GRCm39)	V172E	probably benign	Het
Zfp936	A	T	7: 42,839,034 (GRCm39)	H167L	probably damaging	Het
Zkscan14	A	G	5: 145,132,302 (GRCm39)	Y410H	probably benign	Het
Zkscan17	A	G	11: 59,394,538 (GRCm39)	M21T	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
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'- TGCAACTCTTCTATAGGCGTCTG -3'
(R):5'- AGCTCATTGGCTAAGCATCG -3'

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

Posted On

2016-04-27