Mutagenetix > Incidental Mutation

Incidental Mutation 'R1388:Taf2'

162510

Institutional Source

Beutler Lab

Gene Symbol

Taf2

Ensembl Gene

ENSMUSG00000037343

Gene Name

TATA-box binding protein associated factor 2

Synonyms

150kDa, TAFII150, CIF150, 4732460C16Rik, TAF2B

MMRRC Submission

039450-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R1388 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

54878527-54935548 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 54900021 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Isoleucine at position 864 (N864I)

Ref Sequence

ENSEMBL: ENSMUSP00000043733 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000041733]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000041733
AA Change: N864I

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000043733
Gene: ENSMUSG00000037343
AA Change: N864I

Domain	Start	End	E-Value	Type
Pfam:Peptidase_M1	21	406	5.6e-17	PFAM
SCOP:d1gw5a_	606	973	6e-7	SMART
low complexity region	987	998	N/A	INTRINSIC
low complexity region	1142	1175	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000228360

Meta Mutation Damage Score

0.1636

Coding Region Coverage

1x: 98.9%
3x: 97.9%
10x: 94.9%
20x: 88.1%

Validation Efficiency

98% (47/48)

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 one of the larger subunits of TFIID that is stably associated with the TFIID complex. It contributes to interactions at and downstream of the transcription initiation site, interactions that help determine transcription complex response to activators. [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 41 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acot3	T	G	12: 84,105,761 (GRCm39)	H409Q	possibly damaging	Het
Adgra1	T	C	7: 139,453,919 (GRCm39)	V152A	probably damaging	Het
Arhgef6	T	C	X: 56,383,922 (GRCm39)	M5V	probably benign	Het
Atxn7l3	C	G	11: 102,183,261 (GRCm39)		probably benign	Het
Ccdc174	C	A	6: 91,858,225 (GRCm39)		probably null	Het
Ccdc38	A	T	10: 93,417,702 (GRCm39)		probably benign	Het
Clca4b	A	T	3: 144,622,415 (GRCm39)	V550D	probably benign	Het
Dab2ip	C	T	2: 35,611,268 (GRCm39)		probably benign	Het
Gm17661	GA	GAA	2: 90,917,709 (GRCm38)		noncoding transcript	Het
Gm2959	A	T	14: 42,235,660 (GRCm39)		noncoding transcript	Het
Gmnc	A	G	16: 26,782,662 (GRCm39)	L80P	probably damaging	Het
Gtf2ird1	T	C	5: 134,424,564 (GRCm39)	D394G	probably damaging	Het
Heatr1	T	C	13: 12,432,328 (GRCm39)		probably benign	Het
Il1a	T	C	2: 129,148,501 (GRCm39)	S70G	possibly damaging	Het
Kctd19	T	C	8: 106,118,683 (GRCm39)	S293G	probably null	Het
Klra4	T	C	6: 130,039,198 (GRCm39)		probably benign	Het
Kplce	G	T	3: 92,776,356 (GRCm39)	T109K	probably damaging	Het
Mr1	T	C	1: 155,008,249 (GRCm39)	E242G	probably damaging	Het
Mrnip	C	A	11: 50,087,772 (GRCm39)	A98E	probably benign	Het
Mybpc3	C	T	2: 90,953,219 (GRCm39)	P155S	probably benign	Het
Myh14	A	T	7: 44,314,546 (GRCm39)	Y126N	probably damaging	Het
Nrbp1	T	A	5: 31,403,157 (GRCm39)	I210N	probably damaging	Het
Nup58	A	T	14: 60,482,119 (GRCm39)		probably benign	Het
Or10g9	A	G	9: 39,911,948 (GRCm39)	S192P	probably damaging	Het
Or10j3	T	C	1: 173,031,445 (GRCm39)	V174A	probably benign	Het
Pnisr	T	C	4: 21,862,041 (GRCm39)	M243T	possibly damaging	Het
Ptprr	A	G	10: 116,109,657 (GRCm39)	S633G	probably benign	Het
Rasip1	T	A	7: 45,279,656 (GRCm39)	S300T	probably damaging	Het
Sbsn	A	T	7: 30,451,576 (GRCm39)	H197L	probably benign	Het
Shf	G	A	2: 122,199,163 (GRCm39)	P51S	probably damaging	Het
Sim1	T	A	10: 50,772,090 (GRCm39)	I33N	probably damaging	Het
Speg	A	G	1: 75,407,104 (GRCm39)	D2878G	probably damaging	Het
Tmem43	G	T	6: 91,455,785 (GRCm39)		probably null	Het
Ttn	T	C	2: 76,542,135 (GRCm39)	E25290G	probably damaging	Het
Ush2a	A	G	1: 188,255,515 (GRCm39)		probably benign	Het
Usp53	T	C	3: 122,751,277 (GRCm39)	E260G	probably damaging	Het
Vmn2r12	T	G	5: 109,240,840 (GRCm39)	Y91S	possibly damaging	Het
Vmn2r59	A	T	7: 41,695,133 (GRCm39)	N426K	probably benign	Het
Whamm	C	A	7: 81,236,038 (GRCm39)	L414I	probably damaging	Het
Zfhx4	A	G	3: 5,466,447 (GRCm39)	T2227A	probably damaging	Het
Zfp866	C	T	8: 70,218,834 (GRCm39)	R262Q	probably benign	Het

Other mutations in Taf2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00331:Taf2	APN	15	54,934,845 (GRCm39)	critical splice acceptor site	probably null
IGL00475:Taf2	APN	15	54,919,246 (GRCm39)	nonsense	probably null
IGL00549:Taf2	APN	15	54,894,511 (GRCm39)	missense	probably benign	0.03
IGL00839:Taf2	APN	15	54,909,174 (GRCm39)	nonsense	probably null
IGL01089:Taf2	APN	15	54,879,977 (GRCm39)	missense	probably benign
IGL01305:Taf2	APN	15	54,911,670 (GRCm39)	missense	probably damaging	0.99
IGL01532:Taf2	APN	15	54,912,882 (GRCm39)	missense	possibly damaging	0.94
IGL01903:Taf2	APN	15	54,923,412 (GRCm39)	missense	probably benign	0.03
IGL02324:Taf2	APN	15	54,891,772 (GRCm39)	missense	probably benign
IGL02328:Taf2	APN	15	54,891,772 (GRCm39)	missense	probably benign
IGL02405:Taf2	APN	15	54,897,551 (GRCm39)	splice site	probably benign
IGL02671:Taf2	APN	15	54,897,572 (GRCm39)	missense	probably benign	0.01
IGL02832:Taf2	APN	15	54,879,959 (GRCm39)	missense	probably benign	0.01
IGL03105:Taf2	APN	15	54,909,195 (GRCm39)	missense	probably benign	0.26
IGL03118:Taf2	APN	15	54,915,559 (GRCm39)	missense	probably damaging	1.00
ANU22:Taf2	UTSW	15	54,911,670 (GRCm39)	missense	probably damaging	0.99
R0104:Taf2	UTSW	15	54,901,734 (GRCm39)	missense	probably benign	0.02
R0104:Taf2	UTSW	15	54,901,734 (GRCm39)	missense	probably benign	0.02
R0183:Taf2	UTSW	15	54,919,186 (GRCm39)	missense	possibly damaging	0.89
R0326:Taf2	UTSW	15	54,910,856 (GRCm39)	missense	probably damaging	0.97
R0362:Taf2	UTSW	15	54,909,325 (GRCm39)	missense	probably damaging	1.00
R0423:Taf2	UTSW	15	54,928,078 (GRCm39)	missense	probably benign	0.02
R0562:Taf2	UTSW	15	54,885,584 (GRCm39)	splice site	probably benign
R0609:Taf2	UTSW	15	54,923,446 (GRCm39)	missense	probably damaging	1.00
R0655:Taf2	UTSW	15	54,901,690 (GRCm39)	missense	probably damaging	1.00
R0689:Taf2	UTSW	15	54,926,461 (GRCm39)	missense	possibly damaging	0.60
R0743:Taf2	UTSW	15	54,879,857 (GRCm39)	small deletion	probably benign
R0898:Taf2	UTSW	15	54,923,480 (GRCm39)	missense	probably damaging	0.97
R0969:Taf2	UTSW	15	54,894,553 (GRCm39)	critical splice acceptor site	probably null
R0974:Taf2	UTSW	15	54,879,857 (GRCm39)	small deletion	probably benign
R1145:Taf2	UTSW	15	54,879,857 (GRCm39)	small deletion	probably benign
R1145:Taf2	UTSW	15	54,879,857 (GRCm39)	small deletion	probably benign
R1160:Taf2	UTSW	15	54,934,793 (GRCm39)	missense	probably benign	0.01
R1376:Taf2	UTSW	15	54,879,857 (GRCm39)	small deletion	probably benign
R1416:Taf2	UTSW	15	54,901,806 (GRCm39)	missense	possibly damaging	0.95
R1458:Taf2	UTSW	15	54,923,311 (GRCm39)	missense	probably damaging	0.99
R1477:Taf2	UTSW	15	54,925,568 (GRCm39)	missense	possibly damaging	0.87
R1755:Taf2	UTSW	15	54,879,850 (GRCm39)	missense	probably damaging	1.00
R1766:Taf2	UTSW	15	54,934,793 (GRCm39)	missense	probably benign	0.01
R2090:Taf2	UTSW	15	54,879,882 (GRCm39)	missense	probably damaging	0.99
R2228:Taf2	UTSW	15	54,928,042 (GRCm39)	missense	possibly damaging	0.94
R2519:Taf2	UTSW	15	54,915,643 (GRCm39)	missense	probably benign	0.03
R4073:Taf2	UTSW	15	54,915,633 (GRCm39)	missense	probably damaging	1.00
R4470:Taf2	UTSW	15	54,922,276 (GRCm39)	missense	possibly damaging	0.70
R4471:Taf2	UTSW	15	54,922,276 (GRCm39)	missense	possibly damaging	0.70
R4472:Taf2	UTSW	15	54,922,276 (GRCm39)	missense	possibly damaging	0.70
R4716:Taf2	UTSW	15	54,929,364 (GRCm39)	missense	probably benign	0.02
R4937:Taf2	UTSW	15	54,890,619 (GRCm39)	nonsense	probably null
R5082:Taf2	UTSW	15	54,923,441 (GRCm39)	missense	probably benign	0.41
R5335:Taf2	UTSW	15	54,909,136 (GRCm39)	missense	probably benign	0.14
R5383:Taf2	UTSW	15	54,912,815 (GRCm39)	missense	possibly damaging	0.78
R5771:Taf2	UTSW	15	54,923,335 (GRCm39)	missense	probably benign	0.01
R5862:Taf2	UTSW	15	54,911,719 (GRCm39)	missense	possibly damaging	0.95
R5873:Taf2	UTSW	15	54,901,818 (GRCm39)	missense	probably benign	0.00
R5908:Taf2	UTSW	15	54,935,402 (GRCm39)	unclassified	probably benign
R6033:Taf2	UTSW	15	54,922,297 (GRCm39)	missense	probably damaging	1.00
R6033:Taf2	UTSW	15	54,922,297 (GRCm39)	missense	probably damaging	1.00
R6159:Taf2	UTSW	15	54,926,440 (GRCm39)	missense	possibly damaging	0.48
R6568:Taf2	UTSW	15	54,928,026 (GRCm39)	missense	probably damaging	1.00
R7094:Taf2	UTSW	15	54,923,482 (GRCm39)	missense	probably benign	0.27
R7174:Taf2	UTSW	15	54,912,135 (GRCm39)	missense	possibly damaging	0.51
R7241:Taf2	UTSW	15	54,925,537 (GRCm39)	missense	probably benign	0.01
R7561:Taf2	UTSW	15	54,919,229 (GRCm39)	missense	probably benign	0.16
R7583:Taf2	UTSW	15	54,928,072 (GRCm39)	nonsense	probably null
R7818:Taf2	UTSW	15	54,929,326 (GRCm39)	missense	probably benign
R7905:Taf2	UTSW	15	54,910,828 (GRCm39)	missense	possibly damaging	0.90
R8006:Taf2	UTSW	15	54,912,097 (GRCm39)	missense	probably damaging	1.00
R8017:Taf2	UTSW	15	54,928,013 (GRCm39)	missense	possibly damaging	0.66
R8019:Taf2	UTSW	15	54,928,013 (GRCm39)	missense	possibly damaging	0.66
R8119:Taf2	UTSW	15	54,894,526 (GRCm39)	missense	probably benign	0.00
R8127:Taf2	UTSW	15	54,923,384 (GRCm39)	missense	probably damaging	1.00
R8128:Taf2	UTSW	15	54,923,384 (GRCm39)	missense	probably damaging	1.00
R8129:Taf2	UTSW	15	54,923,384 (GRCm39)	missense	probably damaging	1.00
R8278:Taf2	UTSW	15	54,929,361 (GRCm39)	nonsense	probably null
R8290:Taf2	UTSW	15	54,926,416 (GRCm39)	missense	probably damaging	1.00
R8762:Taf2	UTSW	15	54,910,849 (GRCm39)	missense	probably benign	0.16
R8832:Taf2	UTSW	15	54,928,001 (GRCm39)	missense	possibly damaging	0.86
R8916:Taf2	UTSW	15	54,899,931 (GRCm39)	missense	probably benign	0.26
R8937:Taf2	UTSW	15	54,910,849 (GRCm39)	missense	probably benign	0.16
R9006:Taf2	UTSW	15	54,909,301 (GRCm39)	missense	possibly damaging	0.94
R9138:Taf2	UTSW	15	54,879,857 (GRCm39)	small deletion	probably benign
R9240:Taf2	UTSW	15	54,926,464 (GRCm39)	missense	probably null	1.00
R9257:Taf2	UTSW	15	54,929,409 (GRCm39)	missense	possibly damaging	0.46
R9485:Taf2	UTSW	15	54,911,667 (GRCm39)	missense	probably benign	0.05
R9762:Taf2	UTSW	15	54,894,440 (GRCm39)	critical splice donor site	probably null
R9766:Taf2	UTSW	15	54,910,881 (GRCm39)	critical splice acceptor site	probably null
R9796:Taf2	UTSW	15	54,910,832 (GRCm39)	missense	probably damaging	0.98

Predicted Primers

PCR Primer
(F):5'- TTTCGACATCCCTTCCTAAACTGGAAC -3'
(R):5'- TGAAGTGCCCTGCTTCTTTTAGCC -3'

Sequencing Primer
(F):5'- CTTCCTAAACTGGAACAAGCAC -3'
(R):5'- ggagttagaggcagttgtgag -3'

Posted On

2014-03-17