Mutagenetix > Incidental Mutation

Incidental Mutation 'R5629:Taf3'

441958

Institutional Source

Beutler Lab

Gene Symbol

Taf3

Ensembl Gene

ENSMUSG00000025782

Gene Name

TATA-box binding protein associated factor 3

Synonyms

4933439M23Rik, mTAFII140

MMRRC Submission

043280-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.956) question?

Stock #

R5629 (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 9922989 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Asparagine at position 45 (I45N)

Ref Sequence

ENSEMBL: ENSMUSP00000110557 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000026888] [ENSMUST00000114906] [ENSMUST00000114907] [ENSMUST00000114909]

AlphaFold

Q5HZG4

Predicted Effect

possibly damaging
Transcript: ENSMUST00000026888
AA Change: I869N

PolyPhen 2 Score 0.856 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000026888
Gene: ENSMUSG00000025782
AA Change: I869N

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 benign
Transcript: ENSMUST00000114906

SMART Domains

Protein: ENSMUSP00000110556
Gene: ENSMUSG00000025782

Domain	Start	End	E-Value	Type
PHD	1	34	1.72e-3	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000114907
AA Change: I45N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000110557
Gene: ENSMUSG00000025782
AA Change: I45N

Domain	Start	End	E-Value	Type
PHD	45	91	4.77e-11	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000114909
AA Change: I716N

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000110559
Gene: ENSMUSG00000025782
AA Change: I716N

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000129720

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000149014

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.2%
20x: 95.1%

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: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ablim2	G	A	5: 36,014,507 (GRCm39)	D189N	probably benign	Het
Adamts9	A	T	6: 92,775,114 (GRCm39)	V1052D	probably damaging	Het
Apob	T	C	12: 8,057,847 (GRCm39)	Y2077H	probably damaging	Het
Apol7e	A	T	15: 77,602,276 (GRCm39)	K291N	probably benign	Het
Arsk	A	T	13: 76,242,027 (GRCm39)	I82N	probably damaging	Het
Art1	A	G	7: 101,756,286 (GRCm39)	Q159R	probably benign	Het
Atp2a2	A	G	5: 122,598,159 (GRCm39)	V733A	probably damaging	Het
Btn2a2	A	T	13: 23,666,130 (GRCm39)		probably null	Het
Catsper1	C	T	19: 5,386,165 (GRCm39)	P133S	probably benign	Het
Celsr3	A	G	9: 108,726,266 (GRCm39)	D3165G	probably benign	Het
Cldn19	T	A	4: 119,114,116 (GRCm39)	V86E	probably damaging	Het
Ctnna1	T	A	18: 35,382,802 (GRCm39)	D649E	probably benign	Het
Cttnbp2	A	G	6: 18,405,217 (GRCm39)	I1094T	probably damaging	Het
Ddx24	T	C	12: 103,391,806 (GRCm39)		probably benign	Het
Ern2	T	A	7: 121,769,389 (GRCm39)	H879L	probably damaging	Het
Etv4	T	A	11: 101,662,751 (GRCm39)	H277L	probably damaging	Het
Faap100	G	T	11: 120,267,837 (GRCm39)	A312D	probably damaging	Het
Glipr1l1	G	A	10: 111,914,308 (GRCm39)	C223Y	possibly damaging	Het
Gna14	T	C	19: 16,414,097 (GRCm39)	S14P	possibly damaging	Het
Hapln1	A	G	13: 89,749,634 (GRCm39)	T60A	probably damaging	Het
Hars2	T	A	18: 36,921,719 (GRCm39)	Y273*	probably null	Het
Ighv5-6	A	T	12: 113,589,242 (GRCm39)	Y79*	probably null	Het
Iqgap2	T	A	13: 95,768,682 (GRCm39)	N1406I	probably damaging	Het
Kalrn	T	C	16: 33,860,304 (GRCm39)	T215A	possibly damaging	Het
Krtap13-1	T	A	16: 88,526,047 (GRCm39)	S90R	probably benign	Het
Mettl8	T	C	2: 70,795,913 (GRCm39)	I372V	probably benign	Het
Mfn1	A	T	3: 32,615,659 (GRCm39)	T341S	possibly damaging	Het
Mocos	T	A	18: 24,797,142 (GRCm39)		probably null	Het
Muc5b	T	C	7: 141,415,036 (GRCm39)	S2661P	possibly damaging	Het
Myo15a	C	T	11: 60,370,578 (GRCm39)	P1113S	probably benign	Het
Myo5a	A	T	9: 75,111,127 (GRCm39)	I1540F	possibly damaging	Het
Myoc	T	C	1: 162,476,156 (GRCm39)	Y287H	probably damaging	Het
Napepld	A	G	5: 21,880,901 (GRCm39)	F165L	probably benign	Het
Ndufb10	T	C	17: 24,941,656 (GRCm39)	E102G	probably damaging	Het
Nrros	T	A	16: 31,963,223 (GRCm39)	I265F	probably damaging	Het
Nrxn1	A	T	17: 90,897,460 (GRCm39)	F891I	possibly damaging	Het
Nsfl1c	T	C	2: 151,346,085 (GRCm39)	Y169H	probably damaging	Het
Oas2	G	A	5: 120,876,516 (GRCm39)	Q476*	probably null	Het
Or51f5	A	T	7: 102,423,847 (GRCm39)	I39F	possibly damaging	Het
Pcnx2	C	A	8: 126,624,780 (GRCm39)	W14L	probably damaging	Het
Pip4p1	T	C	14: 51,165,373 (GRCm39)	H278R	probably benign	Het
Piwil2	C	T	14: 70,660,416 (GRCm39)	V70M	probably damaging	Het
Prss23	A	C	7: 89,159,400 (GRCm39)	V223G	probably damaging	Het
Rarres2	A	T	6: 48,547,194 (GRCm39)	L122Q	probably benign	Het
Robo1	T	C	16: 72,780,598 (GRCm39)	V776A	probably benign	Het
Robo3	G	A	9: 37,330,507 (GRCm39)	Q1008*	probably null	Het
Robo4	G	A	9: 37,319,658 (GRCm39)	C636Y	probably damaging	Het
Sacm1l	A	G	9: 123,395,464 (GRCm39)	M196V	probably benign	Het
Septin7	T	A	9: 25,199,589 (GRCm39)	Y163N	probably damaging	Het
Skint6	G	A	4: 112,870,176 (GRCm39)	T594I	possibly damaging	Het
Slc23a1	T	C	18: 35,759,545 (GRCm39)	H13R	probably benign	Het
Slc25a39	A	C	11: 102,295,719 (GRCm39)	Y109*	probably null	Het
Slc8a3	G	A	12: 81,246,405 (GRCm39)	R883C	probably damaging	Het
Spag17	A	T	3: 99,987,435 (GRCm39)	Y1575F	probably benign	Het
Spdye4c	T	A	2: 128,438,705 (GRCm39)	I321N	probably damaging	Het
Stk32b	G	A	5: 37,614,576 (GRCm39)	P311S	probably damaging	Het
Svs3a	T	A	2: 164,132,040 (GRCm39)	S203T	probably benign	Het
Taf7	T	C	18: 37,776,555 (GRCm39)	N4S	probably benign	Het
Tial1	T	A	7: 128,046,421 (GRCm39)	D87V	probably damaging	Het
Tmem120a	T	A	5: 135,770,904 (GRCm39)	E78V	probably benign	Het
Tmem19	A	G	10: 115,183,165 (GRCm39)	F137L	probably benign	Het
Tns2	C	T	15: 102,017,369 (GRCm39)	R281C	probably damaging	Het
Trim30d	T	C	7: 104,137,136 (GRCm39)	K23E	possibly damaging	Het
Ubxn7	C	A	16: 32,151,117 (GRCm39)	H4Q	unknown	Het
Usp40	C	T	1: 87,908,731 (GRCm39)	R590H	probably benign	Het
Vmn1r90	A	G	7: 14,296,011 (GRCm39)	M22T	possibly damaging	Het
Vmn2r1	G	A	3: 64,012,538 (GRCm39)	V800M	possibly damaging	Het
Vps11	A	T	9: 44,267,673 (GRCm39)	I313N	probably damaging	Het
Zhx1	A	G	15: 57,918,207 (GRCm39)	V13A	probably damaging	Het
Zic4	G	A	9: 91,260,805 (GRCm39)	R20H	probably benign	Het
Zp3r	C	T	1: 130,510,616 (GRCm39)	V369M	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
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
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'- TCAGTCACTTTACTCTGCAGGC -3'
(R):5'- TTTATGGATCCAGAGCAGAGGC -3'

Sequencing Primer
(F):5'- GCTCCATTAGACTGTCGTCAAGAG -3'
(R):5'- CAGAGGCGACTGATGGTC -3'

Posted On

2016-11-08