Mutagenetix > Incidental Mutation

Incidental Mutation 'R0348:Taf3'

35962

Institutional Source

Beutler Lab

Gene Symbol

Taf3

Ensembl Gene

ENSMUSG00000025782

Gene Name

TATA-box binding protein associated factor 3

Synonyms

4933439M23Rik, mTAFII140

MMRRC Submission

038555-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.962) question?

Stock #

R0348 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

9919363-10053407 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 10047455 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 64 (D64E)

Ref Sequence

ENSEMBL: ENSMUSP00000026888 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000026888]

AlphaFold

Q5HZG4

PDB Structure

Solution structure of the free TAF3 PHD domain [SOLUTION NMR]
Solution structure of the TAF3 PHD domain in complex with a H3K4me3 peptide [SOLUTION NMR]

Predicted Effect

probably benign
Transcript: ENSMUST00000026888
AA Change: D64E

PolyPhen 2 Score 0.045 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000026888
Gene: ENSMUSG00000025782
AA Change: D64E

Domain	Start	End	E-Value	Type
BTP	3	79	1.94e-34	SMART
low complexity region	159	173	N/A	INTRINSIC
low complexity region	237	253	N/A	INTRINSIC
low complexity region	306	325	N/A	INTRINSIC
low complexity region	404	423	N/A	INTRINSIC
low complexity region	447	461	N/A	INTRINSIC
low complexity region	487	505	N/A	INTRINSIC
coiled coil region	519	572	N/A	INTRINSIC
coiled coil region	611	651	N/A	INTRINSIC
coiled coil region	692	751	N/A	INTRINSIC
low complexity region	779	790	N/A	INTRINSIC
low complexity region	795	821	N/A	INTRINSIC
low complexity region	826	837	N/A	INTRINSIC
PHD	869	915	4.77e-11	SMART

Coding Region Coverage

1x: 99.2%
3x: 98.4%
10x: 96.5%
20x: 93.5%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The highly conserved RNA polymerase II transcription factor TFIID (see TAF1; MIM 313650) comprises the TATA box-binding protein (TBP; MIM 600075) and a set of TBP-associated factors (TAFs), including TAF3. TAFs contribute to promoter recognition and selectivity and act as antiapoptotic factors (Gangloff et al., 2001 [PubMed 11438666]).[supplied by OMIM, May 2009]

Allele List at MGI

Other mutations in this stock

Total: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4921536K21Rik	T	C	11: 3,844,987 (GRCm39)	D34G	probably benign	Het
Adam6a	T	C	12: 113,508,337 (GRCm39)	S237P	probably damaging	Het
Adamts13	A	C	2: 26,871,092 (GRCm39)	D235A	probably benign	Het
Adgb	T	A	10: 10,233,623 (GRCm39)	M1259L	probably benign	Het
Apbb1	T	C	7: 105,214,510 (GRCm39)	Q529R	probably damaging	Het
Bcl2	G	A	1: 106,640,292 (GRCm39)	R107C	probably damaging	Het
Camta1	T	C	4: 151,670,888 (GRCm39)	T96A	possibly damaging	Het
Ccdc148	A	T	2: 58,894,084 (GRCm39)		probably null	Het
Cep170b	T	C	12: 112,703,240 (GRCm39)	Y568H	probably damaging	Het
Clca4b	A	T	3: 144,627,741 (GRCm39)	I410N	probably damaging	Het
Cnot10	G	A	9: 114,427,838 (GRCm39)	T592I	probably benign	Het
Col6a3	C	T	1: 90,755,771 (GRCm39)	A173T	probably damaging	Het
Ctcf	T	A	8: 106,402,789 (GRCm39)	C560*	probably null	Het
Daglb	G	A	5: 143,472,951 (GRCm39)	V369I	probably benign	Het
Defb19	G	A	2: 152,422,146 (GRCm39)	L8F	unknown	Het
Emcn	G	T	3: 137,078,608 (GRCm39)	E65*	probably null	Het
Etl4	G	T	2: 20,782,940 (GRCm39)	R753L	probably damaging	Het
Fam151b	T	C	13: 92,586,689 (GRCm39)	Y248C	probably benign	Het
Fmo1	T	C	1: 162,663,704 (GRCm39)	D275G	probably benign	Het
Gjd4	A	G	18: 9,280,964 (GRCm39)	V38A	possibly damaging	Het
Hivep1	T	C	13: 42,311,855 (GRCm39)	V1365A	possibly damaging	Het
Hivep2	T	C	10: 14,005,702 (GRCm39)	S767P	possibly damaging	Het
Hoxa6	T	C	6: 52,183,548 (GRCm39)	T166A	possibly damaging	Het
Ift80	G	T	3: 68,843,232 (GRCm39)	L367I	probably benign	Het
Igf2bp1	T	C	11: 95,859,719 (GRCm39)	N369S	possibly damaging	Het
Igsf11	C	A	16: 38,829,179 (GRCm39)	D24E	probably benign	Het
Ints5	C	T	19: 8,873,114 (GRCm39)	L358F	probably damaging	Het
Kbtbd3	A	G	9: 4,330,519 (GRCm39)	T298A	possibly damaging	Het
Kif28	C	A	1: 179,558,818 (GRCm39)	V297F	probably damaging	Het
Krt12	T	C	11: 99,308,771 (GRCm39)	Y422C	probably damaging	Het
Lig1	T	A	7: 13,043,122 (GRCm39)	W856R	probably damaging	Het
Liph	C	T	16: 21,786,730 (GRCm39)		probably null	Het
Lrig3	T	A	10: 125,849,317 (GRCm39)	C1012*	probably null	Het
Lrit1	A	G	14: 36,782,182 (GRCm39)	E285G	probably damaging	Het
Lrrc31	A	G	3: 30,743,377 (GRCm39)	V196A	probably benign	Het
Lrrn4	T	C	2: 132,712,363 (GRCm39)	T487A	probably benign	Het
Mllt10	T	C	2: 18,167,424 (GRCm39)	Y372H	probably damaging	Het
Mrpl50	A	T	4: 49,514,515 (GRCm39)	V52E	probably damaging	Het
Mthfd1l	T	C	10: 4,006,766 (GRCm39)	V676A	probably damaging	Het
Ncl	C	T	1: 86,284,362 (GRCm39)	D245N	possibly damaging	Het
Neil1	A	T	9: 57,054,065 (GRCm39)		probably null	Het
Nfatc3	A	G	8: 106,818,827 (GRCm39)	E515G	probably damaging	Het
Nlrp4b	A	G	7: 10,449,108 (GRCm39)	E70G	possibly damaging	Het
Nme3	A	T	17: 25,115,491 (GRCm39)	I2F	possibly damaging	Het
Nup210	G	A	6: 91,051,292 (GRCm39)	H364Y	probably benign	Het
Nxpe3	T	A	16: 55,686,898 (GRCm39)	T37S	probably benign	Het
Olfm1	T	A	2: 28,102,554 (GRCm39)	M76K	probably benign	Het
Pgbd5	A	T	8: 125,160,771 (GRCm39)	V32E	probably damaging	Het
Plcb4	T	C	2: 135,810,339 (GRCm39)	M646T	probably damaging	Het
Plekha7	G	A	7: 115,757,255 (GRCm39)	P565L	probably damaging	Het
Poc5	A	G	13: 96,535,374 (GRCm39)	D213G	probably null	Het
Poli	A	G	18: 70,656,452 (GRCm39)	I125T	probably benign	Het
Ppm1f	T	C	16: 16,721,254 (GRCm39)	M1T	probably null	Het
Psmd7	T	C	8: 108,307,523 (GRCm39)	K320R	unknown	Het
Rabggtb	A	G	3: 153,615,954 (GRCm39)	V128A	probably damaging	Het
Rasa2	A	T	9: 96,454,012 (GRCm39)	L308H	probably damaging	Het
Serpina1d	C	T	12: 103,730,034 (GRCm39)	V383M	probably benign	Het
Sipa1l1	T	C	12: 82,431,530 (GRCm39)		probably null	Het
Sos1	T	C	17: 80,715,740 (GRCm39)	T1006A	probably benign	Het
Sugp1	T	A	8: 70,522,658 (GRCm39)	Y453N	probably damaging	Het
Tcf19	A	T	17: 35,826,801 (GRCm39)		probably null	Het
Trim60	T	A	8: 65,453,868 (GRCm39)	H127L	probably damaging	Het
Tubb4a	C	T	17: 57,387,770 (GRCm39)	V419M	probably damaging	Het
Vmn2r22	G	T	6: 123,614,684 (GRCm39)	T302K	probably damaging	Het
Vmn2r68	T	G	7: 84,870,884 (GRCm39)	T800P	possibly damaging	Het
Zfhx2	A	C	14: 55,300,965 (GRCm39)	V2262G	probably damaging	Het

Other mutations in Taf3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00839:Taf3	APN	2	9,957,728 (GRCm39)	missense	probably damaging	1.00
IGL01620:Taf3	APN	2	9,957,472 (GRCm39)	missense	probably benign	0.00
IGL02084:Taf3	APN	2	10,047,330 (GRCm39)	missense	probably benign	0.08
IGL02229:Taf3	APN	2	9,957,645 (GRCm39)	missense	probably damaging	1.00
IGL02891:Taf3	APN	2	9,926,038 (GRCm39)	missense	probably damaging	1.00
IGL03173:Taf3	APN	2	9,957,738 (GRCm39)	missense	probably damaging	0.99
IGL03302:Taf3	APN	2	9,956,942 (GRCm39)	missense	probably damaging	1.00
Bathtub	UTSW	2	9,956,469 (GRCm39)	missense	possibly damaging	0.89
Howard	UTSW	2	9,955,971 (GRCm39)	missense	probably damaging	0.99
President	UTSW	2	9,956,164 (GRCm39)	missense	probably damaging	0.98
R0344:Taf3	UTSW	2	9,956,709 (GRCm39)	missense	probably benign	0.05
R0506:Taf3	UTSW	2	9,945,804 (GRCm39)	missense	probably benign	0.00
R1724:Taf3	UTSW	2	9,957,177 (GRCm39)	missense	probably benign	0.01
R2151:Taf3	UTSW	2	9,956,377 (GRCm39)	missense	possibly damaging	0.82
R2154:Taf3	UTSW	2	9,956,377 (GRCm39)	missense	possibly damaging	0.82
R2495:Taf3	UTSW	2	9,957,644 (GRCm39)	missense	probably damaging	1.00
R3702:Taf3	UTSW	2	9,957,372 (GRCm39)	missense	possibly damaging	0.74
R3739:Taf3	UTSW	2	9,956,469 (GRCm39)	missense	possibly damaging	0.89
R3921:Taf3	UTSW	2	10,053,109 (GRCm39)	missense	probably benign	0.06
R4097:Taf3	UTSW	2	9,957,178 (GRCm39)	missense	possibly damaging	0.54
R4602:Taf3	UTSW	2	9,957,468 (GRCm39)	missense	probably damaging	0.96
R4615:Taf3	UTSW	2	9,956,901 (GRCm39)	missense	probably damaging	1.00
R4679:Taf3	UTSW	2	10,053,375 (GRCm39)	utr 5 prime	probably benign
R4789:Taf3	UTSW	2	9,956,770 (GRCm39)	missense	probably damaging	1.00
R4801:Taf3	UTSW	2	9,955,934 (GRCm39)	missense	possibly damaging	0.72
R4802:Taf3	UTSW	2	9,955,934 (GRCm39)	missense	possibly damaging	0.72
R5201:Taf3	UTSW	2	9,956,995 (GRCm39)	missense	probably damaging	1.00
R5522:Taf3	UTSW	2	9,945,816 (GRCm39)	missense	probably damaging	1.00
R5629:Taf3	UTSW	2	9,922,989 (GRCm39)	missense	probably damaging	1.00
R6427:Taf3	UTSW	2	9,956,164 (GRCm39)	missense	probably damaging	0.98
R6492:Taf3	UTSW	2	9,955,971 (GRCm39)	missense	probably damaging	0.99
R6804:Taf3	UTSW	2	9,923,028 (GRCm39)	missense	possibly damaging	0.91
R7282:Taf3	UTSW	2	9,956,253 (GRCm39)	missense	probably damaging	0.96
R7293:Taf3	UTSW	2	9,956,901 (GRCm39)	missense	probably damaging	0.98
R7368:Taf3	UTSW	2	9,921,188 (GRCm39)	missense	unknown
R7637:Taf3	UTSW	2	9,945,804 (GRCm39)	missense	probably benign	0.00
R7686:Taf3	UTSW	2	9,956,299 (GRCm39)	missense	probably damaging	1.00
R8251:Taf3	UTSW	2	9,922,962 (GRCm39)	missense	possibly damaging	0.92
R9167:Taf3	UTSW	2	9,945,804 (GRCm39)	missense	probably benign	0.00
R9402:Taf3	UTSW	2	9,955,923 (GRCm39)	critical splice donor site	probably null
R9621:Taf3	UTSW	2	9,923,070 (GRCm39)	missense	unknown

Predicted Primers

PCR Primer
(F):5'- CTTTACTTCCGGGCTGAGGAAACTG -3'
(R):5'- GGGTAATGGTACTGGCTGCTAAGC -3'

Sequencing Primer
(F):5'- CTGAGGAAACTGAAGGACATTG -3'
(R):5'- ctctctcttccctctcccc -3'

Posted On

2013-05-09