Mutagenetix > Incidental Mutation

Incidental Mutation 'R6228:Taf6l'

504522

Institutional Source

Beutler Lab

Gene Symbol

Taf6l

Ensembl Gene

ENSMUSG00000003680

Gene Name

TATA-box binding protein associated factor 6 like

Synonyms

PAF65A, 2810417N14Rik, C530024J06Rik

MMRRC Submission

044357-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.963) question?

Stock #

R6228 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

8751851-8763781 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 8756030 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Glutamine at position 206 (R206Q)

Ref Sequence

ENSEMBL: ENSMUSP00000140136 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000003777] [ENSMUST00000010249] [ENSMUST00000176496] [ENSMUST00000176610] [ENSMUST00000177056] [ENSMUST00000177216] [ENSMUST00000189739]

AlphaFold

Q8R2K4

Predicted Effect

probably benign
Transcript: ENSMUST00000003777
AA Change: R231Q

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000003777
Gene: ENSMUSG00000003680
AA Change: R231Q

Domain	Start	End	E-Value	Type
TAF	16	79	9.03e-28	SMART
Pfam:DUF1546	248	339	4.5e-29	PFAM
low complexity region	565	576	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000010249

SMART Domains

Protein: ENSMUSP00000010249
Gene: ENSMUSG00000003680

Domain	Start	End	E-Value	Type
signal peptide	1	24	N/A	INTRINSIC
low complexity region	45	62	N/A	INTRINSIC
transmembrane domain	64	86	N/A	INTRINSIC
transmembrane domain	98	120	N/A	INTRINSIC
low complexity region	173	182	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000176080

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000176331

Predicted Effect

probably benign
Transcript: ENSMUST00000176496
AA Change: R207Q

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000135090
Gene: ENSMUSG00000003680
AA Change: R207Q

Domain	Start	End	E-Value	Type
TAF	17	80	9.03e-28	SMART
Pfam:DUF1546	224	315	4.3e-29	PFAM
low complexity region	541	552	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000176610
AA Change: R232Q

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000135193
Gene: ENSMUSG00000003680
AA Change: R232Q

Domain	Start	End	E-Value	Type
TAF	17	80	9.03e-28	SMART
Pfam:TAF6_C	249	338	6.6e-22	PFAM
low complexity region	566	577	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000176688

Predicted Effect

probably benign
Transcript: ENSMUST00000177056
AA Change: R225Q

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000135028
Gene: ENSMUSG00000003680
AA Change: R225Q

Domain	Start	End	E-Value	Type
TAF	10	73	9.03e-28	SMART
Pfam:DUF1546	242	333	4.5e-29	PFAM
low complexity region	559	570	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000177216
AA Change: R232Q

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000135220
Gene: ENSMUSG00000003680
AA Change: R232Q

Domain	Start	End	E-Value	Type
TAF	17	80	9.03e-28	SMART
Pfam:DUF1546	249	340	6.4e-29	PFAM
low complexity region	566	577	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000189739
AA Change: R206Q

PolyPhen 2 Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)

SMART Domains

Protein: ENSMUSP00000140136
Gene: ENSMUSG00000003680
AA Change: R206Q

Domain	Start	End	E-Value	Type
TAF	16	79	3.8e-31	SMART
Pfam:DUF1546	223	314	6.3e-26	PFAM
low complexity region	540	551	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000176747

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000176991

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000176719

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.6%
20x: 95.9%

Validation Efficiency

100% (93/93)

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 a protein that is a component of the PCAF histone acetylase complex and structurally similar to one of the histone-like TAFs, TAF6. The PCAF histone acetylase complex, which is composed of more than 20 polypeptides some of which are TAFs, is required for myogenic transcription and differentiation. [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 93 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc6	G	T	7: 45,679,680 (GRCm39)	T9K	probably benign	Het
Ankrd28	T	C	14: 31,429,177 (GRCm39)	H925R	probably damaging	Het
Antxrl	A	T	14: 33,778,556 (GRCm39)	T128S	probably damaging	Het
Atosa	A	G	9: 74,913,645 (GRCm39)	M100V	possibly damaging	Het
Atp8b5	T	C	4: 43,304,674 (GRCm39)	Y62H	probably damaging	Het
Bmpr2	G	T	1: 59,906,595 (GRCm39)	V563L	probably benign	Het
Btn1a1	A	T	13: 23,648,521 (GRCm39)	L104Q	probably damaging	Het
Caskin1	C	G	17: 24,726,154 (GRCm39)	D1420E	probably damaging	Het
Cdc14a	A	T	3: 116,144,862 (GRCm39)	I150N	probably damaging	Het
Cdc26	C	T	4: 62,321,031 (GRCm39)	R4Q	probably damaging	Het
Cfap46	T	C	7: 139,236,496 (GRCm39)	D160G	probably damaging	Het
Cxcr4	A	C	1: 128,519,920 (GRCm39)		probably null	Het
Dab1	C	T	4: 104,588,948 (GRCm39)	A524V	probably benign	Het
Dgat1	T	C	15: 76,387,493 (GRCm39)	N317S	possibly damaging	Het
Disp1	G	A	1: 182,880,589 (GRCm39)	T228M	possibly damaging	Het
Dixdc1	A	C	9: 50,614,656 (GRCm39)		probably null	Het
Dnase1l2	C	A	17: 24,661,492 (GRCm39)		probably benign	Het
Dsg2	T	C	18: 20,727,350 (GRCm39)		probably null	Het
Duox2	A	T	2: 122,117,674 (GRCm39)	F887I	probably benign	Het
Duxf4	A	G	10: 58,071,344 (GRCm39)	M290T	probably benign	Het
Efcab6	T	C	15: 83,851,825 (GRCm39)	D351G	possibly damaging	Het
Ep400	A	G	5: 110,818,808 (GRCm39)	V2621A	probably damaging	Het
Epg5	G	T	18: 77,991,677 (GRCm39)	V125F	possibly damaging	Het
Ephb1	T	C	9: 101,800,783 (GRCm39)	R953G	probably damaging	Het
Etfdh	G	T	3: 79,519,336 (GRCm39)	Y272*	probably null	Het
Fam117b	A	G	1: 60,008,207 (GRCm39)	E347G	probably damaging	Het
Gfra3	A	T	18: 34,828,846 (GRCm39)	C183S	probably damaging	Het
Gmip	A	G	8: 70,268,773 (GRCm39)	D466G	probably damaging	Het
Golga5	G	A	12: 102,450,740 (GRCm39)	M464I	probably benign	Het
Gpd1	A	T	15: 99,621,146 (GRCm39)	Q320L	possibly damaging	Het
H2-Oa	G	T	17: 34,312,851 (GRCm39)	D43Y	probably damaging	Het
Hecw1	T	A	13: 14,520,623 (GRCm39)	I205F	probably damaging	Het
Ighv8-13	A	G	12: 115,728,973 (GRCm39)	Y95H	probably damaging	Het
Igkv6-20	T	C	6: 70,313,081 (GRCm39)	M31V	possibly damaging	Het
Itih1	T	C	14: 30,653,217 (GRCm39)	D737G	probably benign	Het
Kcnc4	G	C	3: 107,355,693 (GRCm39)	H252D	probably damaging	Het
Kcnj14	T	A	7: 45,468,921 (GRCm39)	T195S	probably damaging	Het
Limch1	A	T	5: 67,173,845 (GRCm39)	D642V	probably damaging	Het
Lrp2	T	G	2: 69,312,710 (GRCm39)	D2526A	possibly damaging	Het
Lrrc8a	A	G	2: 30,146,565 (GRCm39)	T460A	possibly damaging	Het
Lrrn4cl	A	G	19: 8,829,135 (GRCm39)	T38A	probably benign	Het
Lypd8	A	T	11: 58,277,629 (GRCm39)	Q137L	possibly damaging	Het
Mapkapk3	A	G	9: 107,137,262 (GRCm39)	Y206H	probably damaging	Het
Mrc1	G	A	2: 14,276,115 (GRCm39)	G483D	probably benign	Het
Mrpl35	C	A	6: 71,800,661 (GRCm39)		probably benign	Het
Mycbp2	T	A	14: 103,497,665 (GRCm39)	H936L	probably benign	Het
Myh3	A	T	11: 66,978,312 (GRCm39)	Y433F	probably benign	Het
Napb	C	T	2: 148,540,098 (GRCm39)		probably null	Het
Nbeal1	C	A	1: 60,335,083 (GRCm39)	Q2288K	probably benign	Het
Ndst3	G	A	3: 123,465,301 (GRCm39)	Q224*	probably null	Het
Nkapd1	A	G	9: 50,518,971 (GRCm39)	S214P	possibly damaging	Het
Nkd2	A	G	13: 73,969,579 (GRCm39)	S284P	probably benign	Het
Or10a2	T	C	7: 106,673,343 (GRCm39)	Y103H	probably damaging	Het
Or5b12	A	T	19: 12,897,301 (GRCm39)	V124E	probably damaging	Het
Or6k2	G	A	1: 173,979,712 (GRCm39)	S210N	probably benign	Het
Or8h10	T	C	2: 86,809,035 (GRCm39)	Y35C	probably damaging	Het
Pcdhb8	A	G	18: 37,490,037 (GRCm39)	T572A	probably benign	Het
Pcdhb9	A	G	18: 37,535,115 (GRCm39)	I370V	probably benign	Het
Pcsk5	T	G	19: 17,558,631 (GRCm39)	E592A	possibly damaging	Het
Pigc	T	C	1: 161,798,036 (GRCm39)	V6A	probably benign	Het
Pla2g6	T	G	15: 79,189,924 (GRCm39)	I389L	probably benign	Het
Pnliprp2	T	C	19: 58,751,874 (GRCm39)		probably null	Het
Psmb11	T	C	14: 54,863,646 (GRCm39)	V288A	probably benign	Het
Rapgef5	A	G	12: 117,685,398 (GRCm39)		probably null	Het
Rcn3	T	C	7: 44,732,720 (GRCm39)	N316S	probably damaging	Het
Rgs6	A	G	12: 83,112,738 (GRCm39)	K183E	probably damaging	Het
Rhoc	A	G	3: 104,700,297 (GRCm39)		probably null	Het
Serinc5	T	C	13: 92,844,616 (GRCm39)	C453R	probably damaging	Het
Slc14a1	A	C	18: 78,159,614 (GRCm39)	M93R	probably damaging	Het
Slc25a3	A	T	10: 90,958,090 (GRCm39)	D83E	probably damaging	Het
Slc36a3	T	C	11: 55,015,777 (GRCm39)	Y459C	probably benign	Het
Slc44a5	A	T	3: 153,944,800 (GRCm39)	Y139F	probably benign	Het
Spag17	A	T	3: 99,929,918 (GRCm39)	Q539L	probably benign	Het
Stap2	C	T	17: 56,306,976 (GRCm39)	V234M	probably damaging	Het
Stard9	A	G	2: 120,544,231 (GRCm39)	Y4450C	probably damaging	Het
Tbc1d23	C	T	16: 57,003,266 (GRCm39)	V501I	probably damaging	Het
Thap2	T	C	10: 115,208,751 (GRCm39)	H123R	probably damaging	Het
Tlx3	C	A	11: 33,152,432 (GRCm39)	W221L	probably benign	Het
Tmem262	T	A	19: 6,130,567 (GRCm39)		probably null	Het
Tpmt	C	A	13: 47,180,735 (GRCm39)	R201S	probably benign	Het
Trpm6	T	C	19: 18,831,655 (GRCm39)	S1507P	probably damaging	Het
Ttc9c	T	C	19: 8,795,847 (GRCm39)	E64G	possibly damaging	Het
Ttn	A	T	2: 76,640,790 (GRCm39)	S13653T	probably damaging	Het
Ugt3a1	G	T	15: 9,310,726 (GRCm39)	W336L	possibly damaging	Het
Vmn1r215	C	A	13: 23,260,633 (GRCm39)	N224K	probably benign	Het
Vmn2r59	C	T	7: 41,691,835 (GRCm39)		probably null	Het
Wdfy3	A	G	5: 102,046,295 (GRCm39)	S1853P	possibly damaging	Het
Wdr36	A	T	18: 32,975,059 (GRCm39)	Y137F	possibly damaging	Het
Zdhhc17	T	C	10: 110,792,216 (GRCm39)	D324G	probably benign	Het
Zfp217	T	C	2: 169,961,497 (GRCm39)	T277A	probably benign	Het
Zfp451	A	G	1: 33,842,219 (GRCm39)		probably benign	Het
Zfp709	TCGACG	TCG	8: 72,644,552 (GRCm39)		probably benign	Het
Zfp871	T	C	17: 32,994,858 (GRCm39)	S106G	possibly damaging	Het

Other mutations in Taf6l

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00467:Taf6l	APN	19	8,760,752 (GRCm39)	missense	probably benign	0.04
IGL00781:Taf6l	APN	19	8,751,025 (GRCm39)	missense	probably damaging	1.00
IGL01886:Taf6l	APN	19	8,755,450 (GRCm39)	critical splice donor site	probably null
IGL02638:Taf6l	APN	19	8,752,630 (GRCm39)	missense	probably benign	0.03
IGL02676:Taf6l	APN	19	8,752,413 (GRCm39)	missense	probably damaging	1.00
R0096:Taf6l	UTSW	19	8,755,881 (GRCm39)	missense	probably benign	0.06
R0110:Taf6l	UTSW	19	8,755,885 (GRCm39)	missense	probably benign	0.08
R0469:Taf6l	UTSW	19	8,755,885 (GRCm39)	missense	probably benign	0.08
R0510:Taf6l	UTSW	19	8,755,885 (GRCm39)	missense	probably benign	0.08
R0676:Taf6l	UTSW	19	8,750,733 (GRCm39)	missense	probably benign	0.00
R0711:Taf6l	UTSW	19	8,755,881 (GRCm39)	missense	probably benign	0.06
R1804:Taf6l	UTSW	19	8,750,998 (GRCm39)	missense	probably damaging	0.99
R1971:Taf6l	UTSW	19	8,752,866 (GRCm39)	splice site	probably null
R2869:Taf6l	UTSW	19	8,755,992 (GRCm39)	unclassified	probably benign
R2870:Taf6l	UTSW	19	8,755,992 (GRCm39)	unclassified	probably benign
R3105:Taf6l	UTSW	19	8,756,219 (GRCm39)	missense	probably damaging	1.00
R4578:Taf6l	UTSW	19	8,761,335 (GRCm39)	missense	possibly damaging	0.95
R4581:Taf6l	UTSW	19	8,755,572 (GRCm39)	missense	probably damaging	0.99
R4841:Taf6l	UTSW	19	8,759,770 (GRCm39)	missense	possibly damaging	0.77
R4842:Taf6l	UTSW	19	8,759,770 (GRCm39)	missense	possibly damaging	0.77
R5215:Taf6l	UTSW	19	8,755,417 (GRCm39)	intron	probably benign
R5269:Taf6l	UTSW	19	8,752,326 (GRCm39)	missense	probably damaging	1.00
R5571:Taf6l	UTSW	19	8,761,294 (GRCm39)	missense	probably damaging	1.00
R5687:Taf6l	UTSW	19	8,750,676 (GRCm39)	missense	probably benign	0.01
R5799:Taf6l	UTSW	19	8,759,995 (GRCm39)	missense	possibly damaging	0.93
R5814:Taf6l	UTSW	19	8,752,210 (GRCm39)	missense	probably benign	0.13
R6008:Taf6l	UTSW	19	8,755,530 (GRCm39)	missense	possibly damaging	0.65
R6091:Taf6l	UTSW	19	8,755,920 (GRCm39)	missense	probably benign	0.04
R6569:Taf6l	UTSW	19	8,750,074 (GRCm39)	missense	probably damaging	1.00
R6768:Taf6l	UTSW	19	8,751,913 (GRCm39)	missense	probably damaging	1.00
R7586:Taf6l	UTSW	19	8,761,210 (GRCm39)	missense	probably damaging	0.99
R8282:Taf6l	UTSW	19	8,750,714 (GRCm39)	missense	possibly damaging	0.95
R8959:Taf6l	UTSW	19	8,750,690 (GRCm39)	missense	possibly damaging	0.52
R8963:Taf6l	UTSW	19	8,752,135 (GRCm39)	missense	probably benign
R9225:Taf6l	UTSW	19	8,751,688 (GRCm39)	critical splice donor site	probably benign
R9340:Taf6l	UTSW	19	8,752,636 (GRCm39)	missense	probably damaging	1.00
R9488:Taf6l	UTSW	19	8,759,436 (GRCm39)	missense	probably benign	0.44
Z1176:Taf6l	UTSW	19	8,759,908 (GRCm39)	missense	probably null	0.99

Predicted Primers

PCR Primer
(F):5'- AAAGGCTTCCTACAGCTCCC -3'
(R):5'- AGTTCTCTAGCGATCTCTATGACC -3'

Sequencing Primer
(F):5'- AATCAACTCTGTAGGCTATCCC -3'
(R):5'- GACCCTTCTCTGTTTAGGGCTCATAG -3'

Posted On

2018-02-28