Mutagenetix > Incidental Mutation

Incidental Mutation 'R2870:Taf6l'

475568

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

040458-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.965) question?

Stock #

R2870 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

8751851-8763781 bp(-) (GRCm39)

Type of Mutation

unclassified

DNA Base Change (assembly)

A to G at 8755992 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000010249 (fasta)

Gene Model

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

AlphaFold

Q8R2K4

Predicted Effect

silent
Transcript: ENSMUST00000003777

SMART Domains

Protein: ENSMUSP00000003777
Gene: ENSMUSG00000003680

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

silent
Transcript: ENSMUST00000176496

SMART Domains

Protein: ENSMUSP00000135090
Gene: ENSMUSG00000003680

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

silent
Transcript: ENSMUST00000176610

SMART Domains

Protein: ENSMUSP00000135193
Gene: ENSMUSG00000003680

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

silent
Transcript: ENSMUST00000189739

SMART Domains

Protein: ENSMUSP00000140136
Gene: ENSMUSG00000003680

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

silent
Transcript: ENSMUST00000177056

SMART Domains

Protein: ENSMUSP00000135028
Gene: ENSMUSG00000003680

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

silent
Transcript: ENSMUST00000177216

SMART Domains

Protein: ENSMUSP00000135220
Gene: ENSMUSG00000003680

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

noncoding transcript
Transcript: ENSMUST00000176747

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000176991

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000176719

Coding Region Coverage

1x: 99.1%
3x: 98.6%
10x: 97.3%
20x: 95.0%

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 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: 87 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Actrt3	A	G	3: 30,653,847 (GRCm39)	V51A	probably damaging	Het
Adgb	C	T	10: 10,307,025 (GRCm39)		probably null	Het
Als2	A	G	1: 59,250,296 (GRCm39)	S483P	probably damaging	Het
Ankrd10	C	T	8: 11,665,682 (GRCm39)	R306H	probably damaging	Het
Arhgef10	T	C	8: 15,025,093 (GRCm39)		probably null	Het
Arhgef10	A	G	8: 15,025,666 (GRCm39)	I459V	probably benign	Het
Armc2	C	T	10: 41,842,696 (GRCm39)		probably null	Het
Atp12a	A	G	14: 56,624,407 (GRCm39)	R952G	possibly damaging	Het
Atp6v1g1	A	G	4: 63,468,258 (GRCm39)	Y87C	probably benign	Het
C030034I22Rik	T	A	17: 69,725,106 (GRCm39)		noncoding transcript	Het
Cacna2d1	G	A	5: 16,517,566 (GRCm39)	C404Y	probably damaging	Het
Ccdc163	T	C	4: 116,599,058 (GRCm39)		silent	Het
Ccdc59	A	T	10: 105,677,388 (GRCm39)	K9M	possibly damaging	Het
Cd6	A	G	19: 10,771,990 (GRCm39)	I307T	possibly damaging	Het
Cimap1d	G	A	10: 79,481,487 (GRCm39)	T14I	probably benign	Het
Clasrp	C	A	7: 19,319,165 (GRCm39)		probably benign	Het
Csmd2	T	C	4: 128,451,511 (GRCm39)	F113S	unknown	Het
Csmd3	C	T	15: 47,721,320 (GRCm39)	G1437D	probably damaging	Het
Cyp4a14	C	A	4: 115,344,498 (GRCm39)	G456W	probably damaging	Het
Cyp4a30b	A	G	4: 115,315,559 (GRCm39)	H260R	possibly damaging	Het
Dcp1b	C	T	6: 119,191,735 (GRCm39)	S217L	probably benign	Het
Dennd2b	A	T	7: 109,156,637 (GRCm39)	Y38N	probably benign	Het
Dhx57	A	T	17: 80,558,805 (GRCm39)	D1051E	probably benign	Het
Dmp1	A	G	5: 104,359,974 (GRCm39)	S217G	probably benign	Het
Eif4enif1	C	T	11: 3,192,586 (GRCm39)	P805S	probably damaging	Het
Eral1	A	G	11: 77,967,104 (GRCm39)	I164T	possibly damaging	Het
Esr1	G	A	10: 4,947,890 (GRCm39)	R481H	probably damaging	Het
Fan1	A	G	7: 64,012,938 (GRCm39)	I668T	probably benign	Het
Gbp11	C	T	5: 105,478,866 (GRCm39)	D191N	probably benign	Het
Gm21759	T	A	5: 8,230,863 (GRCm39)		probably benign	Het
Gm5454	C	A	13: 103,494,031 (GRCm39)		noncoding transcript	Het
Gm9874	A	T	17: 30,704,763 (GRCm39)		probably benign	Het
Gria2	G	A	3: 80,609,799 (GRCm39)	T670I	probably damaging	Het
Gria4	T	A	9: 4,503,614 (GRCm39)	N334I	probably damaging	Het
Grm5	T	C	7: 87,251,930 (GRCm39)	V60A	possibly damaging	Het
Ift172	C	T	5: 31,415,205 (GRCm39)	V1335I	probably benign	Het
Ino80d	C	T	1: 63,100,198 (GRCm39)		probably null	Het
Kif1c	A	G	11: 70,614,907 (GRCm39)	E567G	probably damaging	Het
Krt31	T	G	11: 99,938,699 (GRCm39)	N298T	possibly damaging	Het
Mapk7	C	A	11: 61,381,038 (GRCm39)		probably benign	Het
Marchf8	C	T	6: 116,378,106 (GRCm39)		probably benign	Het
Matr3	T	A	18: 35,705,349 (GRCm39)	S91R	probably benign	Het
Mdm1	A	G	10: 117,986,847 (GRCm39)	T267A	probably benign	Het
Mlxip	A	G	5: 123,590,730 (GRCm39)	M878V	probably benign	Het
Mtm1	T	C	X: 70,339,968 (GRCm39)		probably benign	Homo
Mtor	T	A	4: 148,624,487 (GRCm39)	M2089K	probably benign	Het
Mylk2	A	G	2: 152,761,268 (GRCm39)	K457R	probably damaging	Het
Nell1	A	T	7: 49,899,405 (GRCm39)		probably benign	Het
Nomo1	C	A	7: 45,696,361 (GRCm39)	T293N	probably damaging	Het
Or10g1	T	G	14: 52,648,318 (GRCm39)	T4P	probably benign	Het
Or6c211	A	T	10: 129,505,628 (GRCm39)	C253*	probably null	Het
Or8k33	T	C	2: 86,383,928 (GRCm39)	D180G	possibly damaging	Het
Ostc	T	C	3: 130,497,157 (GRCm39)	N80S	probably damaging	Het
Otud4	T	A	8: 80,387,702 (GRCm39)	N300K	possibly damaging	Het
Otx1	A	G	11: 21,948,681 (GRCm39)		probably benign	Het
Palmd	T	C	3: 116,717,400 (GRCm39)	R366G	possibly damaging	Het
Pcdhb20	A	T	18: 37,638,833 (GRCm39)	Q453L	possibly damaging	Het
Pcdhga9	T	A	18: 37,870,524 (GRCm39)	Y118N	possibly damaging	Het
Pes1	C	A	11: 3,926,834 (GRCm39)	T372K	probably benign	Het
Plcl1	A	T	1: 55,736,309 (GRCm39)	D550V	probably benign	Het
Plekhg5	T	A	4: 152,191,960 (GRCm39)	C433S	probably benign	Het
Plin2	A	G	4: 86,586,915 (GRCm39)	M1T	probably null	Het
Pold1	C	T	7: 44,192,771 (GRCm39)		silent	Het
Ppp1r7	T	A	1: 93,285,585 (GRCm39)		probably null	Het
Psmb8	T	C	17: 34,419,144 (GRCm39)	I146T	probably damaging	Het
Pzp	A	T	6: 128,462,519 (GRCm39)		probably null	Het
Rel	T	C	11: 23,711,129 (GRCm39)	I13V	probably benign	Het
Reln	C	T	5: 22,254,789 (GRCm39)	V527I	possibly damaging	Het
Retnla	A	G	16: 48,663,975 (GRCm39)	R90G	probably benign	Het
Semp2l2b	A	T	10: 21,943,278 (GRCm39)	I234N	probably benign	Het
Shoc1	A	C	4: 59,093,850 (GRCm39)	L226R	probably damaging	Het
Slc39a8	T	A	3: 135,592,554 (GRCm39)		probably null	Het
Slc5a8	A	G	10: 88,740,825 (GRCm39)	I247V	probably benign	Het
Son	A	G	16: 91,461,205 (GRCm39)		probably null	Het
Spcs2	T	C	7: 99,488,968 (GRCm39)	D240G	probably damaging	Het
Stx3	A	T	19: 11,766,938 (GRCm39)	V91D	probably damaging	Het
Tafa2	A	T	10: 123,540,270 (GRCm39)	H42L	possibly damaging	Het
Tbc1d8	A	G	1: 39,444,398 (GRCm39)	F187S	probably damaging	Het
Thbs1	C	G	2: 117,949,859 (GRCm39)	N611K	probably damaging	Het
Tipin	A	C	9: 64,211,609 (GRCm39)	S232R	probably benign	Het
Tmem132b	A	G	5: 125,715,332 (GRCm39)	D347G	probably benign	Het
Tmem161a	C	T	8: 70,631,565 (GRCm39)		probably benign	Het
Vmn2r68	A	C	7: 84,882,834 (GRCm39)	M306R	probably benign	Het
Vwa7	G	A	17: 35,240,218 (GRCm39)	M395I	probably damaging	Het
Ybx3	G	A	6: 131,347,376 (GRCm39)	A253V	probably damaging	Het
Zfp53	A	T	17: 21,728,340 (GRCm39)	E124D	probably benign	Het
Zzz3	T	A	3: 152,152,481 (GRCm39)		silent	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
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
R6228:Taf6l	UTSW	19	8,756,030 (GRCm39)	missense	probably benign	0.01
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

Posted On

2017-05-11