Mutagenetix > Incidental Mutation

Incidental Mutation 'R5082:Taf2'

387214

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

042671-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R5082 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

54878527-54935548 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 54923441 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Asparagine at position 279 (H279N)

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: H279N

PolyPhen 2 Score 0.406 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000043733
Gene: ENSMUSG00000037343
AA Change: H279N

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: ENSMUST00000226864

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 96.9%
20x: 94.3%

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 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: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca9	T	A	11: 110,022,694 (GRCm39)	M1015L	probably benign	Het
Aftph	T	C	11: 20,677,100 (GRCm39)	S170G	probably damaging	Het
Aox4	C	T	1: 58,270,642 (GRCm39)	P274S	possibly damaging	Het
Ash1l	G	A	3: 88,873,541 (GRCm39)	R108Q	probably damaging	Het
Aspm	T	A	1: 139,406,414 (GRCm39)	L1767*	probably null	Het
Baz2b	T	A	2: 59,731,835 (GRCm39)	K2068*	probably null	Het
Bcl9	A	T	3: 97,117,218 (GRCm39)	V492D	probably damaging	Het
Bicc1	G	T	10: 70,776,352 (GRCm39)	H782Q	probably benign	Het
Cabin1	T	A	10: 75,574,164 (GRCm39)	I640F	probably damaging	Het
Ccng1	A	G	11: 40,643,015 (GRCm39)	V144A	possibly damaging	Het
Cdc23	C	A	18: 34,784,742 (GRCm39)	V7L	unknown	Het
Ddx1	G	T	12: 13,270,436 (GRCm39)	C668*	probably null	Het
Dhx58	G	A	11: 100,587,802 (GRCm39)	S585L	probably benign	Het
Dnttip2	A	T	3: 122,069,590 (GRCm39)	K268N	probably damaging	Het
Ecd	C	T	14: 20,374,436 (GRCm39)		probably null	Het
Entpd1	A	G	19: 40,713,473 (GRCm39)		probably null	Het
Erlin2	T	C	8: 27,523,435 (GRCm39)	V224A	probably damaging	Het
Exoc3l4	A	G	12: 111,394,424 (GRCm39)	S515G	probably benign	Het
Fcho1	T	C	8: 72,169,829 (GRCm39)	D98G	possibly damaging	Het
Fhod1	T	A	8: 106,057,145 (GRCm39)	D943V	probably damaging	Het
Gm10322	A	T	10: 59,452,090 (GRCm39)	E69V	possibly damaging	Het
Gm14295	T	A	2: 176,499,210 (GRCm39)	L19*	probably null	Het
Gm7347	T	A	5: 26,262,372 (GRCm39)	R50*	probably null	Het
Hesx1	T	C	14: 26,722,731 (GRCm39)	C19R	probably benign	Het
Hgh1	T	A	15: 76,253,752 (GRCm39)	F199L	probably benign	Het
Irak2	T	C	6: 113,649,805 (GRCm39)	F147L	probably damaging	Het
Kif22	G	A	7: 126,632,549 (GRCm39)	R254C	possibly damaging	Het
Klhl9	A	T	4: 88,639,622 (GRCm39)	S206R	probably damaging	Het
Maip1	T	C	1: 57,451,010 (GRCm39)		probably null	Het
Mcm9	T	A	10: 53,414,156 (GRCm39)	E308V	possibly damaging	Het
Mfsd13b	A	T	7: 120,598,201 (GRCm39)	N369I	possibly damaging	Het
Mga	T	A	2: 119,733,825 (GRCm39)	H224Q	probably damaging	Het
Mtss1	A	T	15: 58,842,868 (GRCm39)	W115R	probably damaging	Het
Myo3b	T	C	2: 70,088,374 (GRCm39)	V851A	probably benign	Het
Nectin2	A	T	7: 19,472,049 (GRCm39)	D113E	probably damaging	Het
Notch2	G	A	3: 98,007,690 (GRCm39)	C480Y	probably damaging	Het
Or6b6	G	A	7: 106,570,871 (GRCm39)	R227C	probably benign	Het
Or8b55	T	C	9: 38,727,441 (GRCm39)	I214T	possibly damaging	Het
Pfdn1	G	T	18: 36,537,466 (GRCm39)	N111K	probably damaging	Het
Pfkl	A	T	10: 77,832,242 (GRCm39)	V283E	probably damaging	Het
Plbd2	G	T	5: 120,629,249 (GRCm39)	S305*	probably null	Het
Prom1	T	C	5: 44,158,174 (GRCm39)		probably null	Het
Ptbp2	T	A	3: 119,546,613 (GRCm39)	M90L	probably benign	Het
Rai1	G	A	11: 60,076,745 (GRCm39)	E270K	possibly damaging	Het
Rbbp6	G	A	7: 122,599,925 (GRCm39)		probably benign	Het
Reln	T	C	5: 22,101,075 (GRCm39)	M3399V	probably benign	Het
Ros1	T	A	10: 52,040,037 (GRCm39)	Y318F	possibly damaging	Het
Sh2d2a	A	G	3: 87,759,091 (GRCm39)	D231G	probably benign	Het
Smn1	T	C	13: 100,273,890 (GRCm39)		probably benign	Het
Snrnp200	C	T	2: 127,068,290 (GRCm39)	Q877*	probably null	Het
Tnfaip3	T	C	10: 18,881,032 (GRCm39)	Y345C	probably damaging	Het
Vmn2r68	C	T	7: 84,883,076 (GRCm39)	M225I	probably benign	Het
Vps13a	A	T	19: 16,722,257 (GRCm39)	W352R	probably damaging	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
R1388:Taf2	UTSW	15	54,900,021 (GRCm39)	missense	probably benign	0.00
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
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'- GCATCCTCTACTTGAAGGGAC -3'
(R):5'- GACACATAAGAGATTATGCTAAGCC -3'

Sequencing Primer
(F):5'- TTGAAGGGACACCAACCTG -3'
(R):5'- TTAATTCTCATTGATGCATAGGAGAG -3'

Posted On

2016-06-06