Mutagenetix > Incidental Mutation

Incidental Mutation 'R6492:Taf3'

522919

Institutional Source

Beutler Lab

Gene Symbol

Taf3

Ensembl Gene

ENSMUSG00000025782

Gene Name

TATA-box binding protein associated factor 3

Synonyms

4933439M23Rik, mTAFII140

MMRRC Submission

044624-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.956) question?

Stock #

R6492 (G1)

Quality Score

194.009

Status

Validated

Chromosome

Chromosomal Location

9919363-10053407 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 9955971 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 579 (E579G)

Ref Sequence

ENSEMBL: ENSMUSP00000110559 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000026888] [ENSMUST00000114909]

AlphaFold

Q5HZG4

Predicted Effect

possibly damaging
Transcript: ENSMUST00000026888
AA Change: E732G

PolyPhen 2 Score 0.719 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000026888
Gene: ENSMUSG00000025782
AA Change: E732G

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000114909
AA Change: E579G

PolyPhen 2 Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000110559
Gene: ENSMUSG00000025782
AA Change: E579G

Domain	Start	End	E-Value	Type
low complexity region	6	20	N/A	INTRINSIC
low complexity region	84	100	N/A	INTRINSIC
low complexity region	153	172	N/A	INTRINSIC
low complexity region	251	270	N/A	INTRINSIC
low complexity region	294	308	N/A	INTRINSIC
low complexity region	334	352	N/A	INTRINSIC
coiled coil region	366	419	N/A	INTRINSIC
coiled coil region	458	498	N/A	INTRINSIC
coiled coil region	539	598	N/A	INTRINSIC
low complexity region	626	637	N/A	INTRINSIC
low complexity region	642	668	N/A	INTRINSIC
low complexity region	673	684	N/A	INTRINSIC
PHD	716	762	4.77e-11	SMART

Meta Mutation Damage Score

0.0902

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 97.6%
20x: 92.5%

Validation Efficiency

100% (60/60)

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: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A2m	C	T	6: 121,631,464 (GRCm39)	T587I	probably benign	Het
Abl1	T	A	2: 31,691,667 (GRCm39)	M1062K	probably benign	Het
Agbl4	G	A	4: 111,404,469 (GRCm39)	D272N	probably damaging	Het
Apob	A	T	12: 8,058,261 (GRCm39)	I2215F	probably damaging	Het
Atp10b	A	T	11: 43,109,784 (GRCm39)	Q821H	probably damaging	Het
Atp1a3	T	C	7: 24,678,729 (GRCm39)	Y971C	probably damaging	Het
Atp6ap1l	A	T	13: 91,031,841 (GRCm39)	H280Q	probably damaging	Het
B4galt2	A	T	4: 117,734,164 (GRCm39)	M291K	probably damaging	Het
Cachd1	G	T	4: 100,809,315 (GRCm39)	V267F	possibly damaging	Het
Cadm2	G	T	16: 66,581,715 (GRCm39)	L188M	probably damaging	Het
Ccn6	C	T	10: 39,030,983 (GRCm39)	G180D	probably benign	Het
Ceacam19	T	C	7: 19,616,517 (GRCm39)	N199S	probably benign	Het
Chrna5	A	G	9: 54,905,347 (GRCm39)	D53G	probably benign	Het
Clca4a	T	A	3: 144,663,059 (GRCm39)	T597S	probably benign	Het
Cluap1	T	A	16: 3,746,476 (GRCm39)	M279K	probably benign	Het
Cngb1	T	A	8: 95,991,052 (GRCm39)	M717L	probably benign	Het
Cp	T	C	3: 20,036,186 (GRCm39)	V777A	probably benign	Het
Drosha	A	G	15: 12,861,792 (GRCm39)	D594G	probably benign	Het
Exo5	A	G	4: 120,778,734 (GRCm39)		probably benign	Het
Gm10549	C	A	18: 33,597,358 (GRCm39)		probably benign	Het
Gprc5b	A	G	7: 118,583,800 (GRCm39)	I23T	possibly damaging	Het
Ikbke	T	C	1: 131,186,955 (GRCm39)	Y579C	probably damaging	Het
Ikzf2	T	C	1: 69,578,201 (GRCm39)	Y362C	probably damaging	Het
Itfg1	A	G	8: 86,466,978 (GRCm39)	V365A	probably benign	Het
Josd2	T	C	7: 44,120,578 (GRCm39)	I105T	probably damaging	Het
Mc3r	G	A	2: 172,091,074 (GRCm39)	A99T	possibly damaging	Het
Mettl22	T	A	16: 8,306,755 (GRCm39)		probably null	Het
Mgat5	A	G	1: 127,399,301 (GRCm39)	I619V	probably benign	Het
Nin	T	C	12: 70,101,308 (GRCm39)	I430V	probably benign	Het
Or52n2c	C	A	7: 104,574,852 (GRCm39)	A40S	possibly damaging	Het
Or5au1	A	G	14: 52,272,902 (GRCm39)	F222S	probably benign	Het
Or5j3	T	C	2: 86,128,990 (GRCm39)	F277L	probably benign	Het
Or5w22	C	G	2: 87,363,085 (GRCm39)	A236G	possibly damaging	Het
Or8k3	T	A	2: 86,058,731 (GRCm39)	I195F	possibly damaging	Het
Parvb	T	C	15: 84,188,073 (GRCm39)	L272P	probably damaging	Het
Pde2a	A	G	7: 101,149,649 (GRCm39)	K180E	possibly damaging	Het
Pik3c3	C	T	18: 30,457,615 (GRCm39)	T736M	probably damaging	Het
Plcb4	C	T	2: 135,814,991 (GRCm39)	R760*	probably null	Het
Pramel6	C	T	2: 87,340,766 (GRCm39)	T366I	probably benign	Het
Prr29	C	T	11: 106,266,062 (GRCm39)	R42W	probably damaging	Het
Prss12	A	G	3: 123,241,048 (GRCm39)	I81V	probably benign	Het
Ptpn13	A	G	5: 103,649,478 (GRCm39)	T294A	probably benign	Het
Ptprc	A	T	1: 138,041,300 (GRCm39)		probably null	Het
Sin3b	T	A	8: 73,460,118 (GRCm39)		probably null	Het
Slco5a1	T	C	1: 13,060,151 (GRCm39)	Y190C	probably damaging	Het
Slco6c1	T	G	1: 97,053,538 (GRCm39)	Y121S	probably damaging	Het
Srcap	G	T	7: 127,121,317 (GRCm39)	G217*	probably null	Het
Ss18	A	T	18: 14,784,145 (GRCm39)	M181K	probably damaging	Het
Synm	T	C	7: 67,385,809 (GRCm39)	T176A	probably benign	Het
Taf7	A	G	18: 37,776,159 (GRCm39)	I136T	probably damaging	Het
Tfap2d	G	C	1: 19,174,702 (GRCm39)	G52R	probably benign	Het
Tyrp1	A	G	4: 80,759,018 (GRCm39)	D297G	probably null	Het
Uox	C	T	3: 146,330,332 (GRCm39)	R163*	probably null	Het
Wwp1	G	A	4: 19,650,299 (GRCm39)	S289L	possibly damaging	Het
Xbp1	T	C	11: 5,471,005 (GRCm39)	V4A	probably benign	Het
Zbtb17	G	A	4: 141,190,694 (GRCm39)	G171S	probably benign	Het
Zbtb2	T	C	10: 4,319,711 (GRCm39)	Y105C	probably damaging	Het
Zeb2	T	C	2: 45,000,508 (GRCm39)		probably benign	Het
Zkscan8	A	T	13: 21,709,397 (GRCm39)	I167N	probably benign	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
R0348:Taf3	UTSW	2	10,047,455 (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
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'- GCGTGTATAGGGCTTAGTTACAGAAC -3'
(R):5'- TTCAGCCCTTCAGCAGTGAG -3'

Sequencing Primer
(F):5'- TTTACCTGCGGTTTGCAC -3'
(R):5'- TTCAGCAGTGAGGGTCCC -3'

Posted On

2018-06-06