Mutagenetix > Incidental Mutation

Incidental Mutation 'R8128:Taf2'

631864

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

067557-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R8128 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

54878527-54935548 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 54923384 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Cysteine at position 298 (R298C)

Ref Sequence

ENSEMBL: ENSMUSP00000043733 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000041733
AA Change: R298C

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

SMART Domains

Protein: ENSMUSP00000043733
Gene: ENSMUSG00000037343
AA Change: R298C

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

Coding Region Coverage

1x: 99.8%
3x: 99.6%
10x: 98.9%
20x: 96.6%

Validation Efficiency

98% (42/43)

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: 42 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb4	A	G	5: 9,008,395 (GRCm39)	R1188G	probably damaging	Het
Abcc5	G	A	16: 20,184,473 (GRCm39)	R1036C	probably damaging	Het
Arhgap22	T	A	14: 33,089,042 (GRCm39)	F508I	probably benign	Het
Bahcc1	C	T	11: 120,163,216 (GRCm39)	Q505*	probably null	Het
Birc6	T	A	17: 74,916,253 (GRCm39)	L1723Q	probably damaging	Het
Caprin2	A	G	6: 148,784,940 (GRCm39)		probably null	Het
Cfap69	C	A	5: 5,646,034 (GRCm39)	M555I	probably benign	Het
Cgn	C	T	3: 94,676,691 (GRCm39)	A773T	probably benign	Het
Cnot7	A	G	8: 40,963,129 (GRCm39)	V15A	probably damaging	Het
Col7a1	A	G	9: 108,784,789 (GRCm39)	R206G	unknown	Het
Dscam	C	A	16: 96,602,374 (GRCm39)		probably null	Het
Eif3k	A	T	7: 28,679,742 (GRCm39)		probably benign	Het
Epn2	G	T	11: 61,413,321 (GRCm39)		probably null	Het
Fitm2	T	C	2: 163,311,568 (GRCm39)	D215G	probably benign	Het
Foxa3	A	T	7: 18,757,341 (GRCm39)	M1K	probably null	Het
Glyctk	T	C	9: 106,032,501 (GRCm39)	H504R	probably benign	Het
Grin3b	T	C	10: 79,812,944 (GRCm39)	L394P		Het
Hgh1	A	G	15: 76,254,581 (GRCm39)	Y319C	probably damaging	Het
Hk1	T	C	10: 62,117,622 (GRCm39)	T635A	probably benign	Het
Igsf3	T	A	3: 101,346,947 (GRCm39)	N627K	probably damaging	Het
Lmtk3	G	T	7: 45,443,598 (GRCm39)	M760I		Het
Lrp1b	G	A	2: 41,159,248 (GRCm39)	A1678V	probably null	Het
Lrrc8c	A	T	5: 105,755,488 (GRCm39)	N421I	probably damaging	Het
Mfsd13b	C	A	7: 120,590,495 (GRCm39)	R79S	possibly damaging	Het
Or1q1	A	T	2: 36,887,673 (GRCm39)	M284L	probably benign	Het
Or5p50	A	C	7: 107,422,632 (GRCm39)	F15V	probably damaging	Het
Pappa2	T	C	1: 158,764,234 (GRCm39)	T426A	possibly damaging	Het
Pira1	C	G	7: 3,740,319 (GRCm39)	A301P	probably damaging	Het
Pkhd1l1	A	T	15: 44,361,449 (GRCm39)	I500F	possibly damaging	Het
Polr3gl	T	A	3: 96,487,824 (GRCm39)		probably null	Het
Psmg3	A	G	5: 139,809,788 (GRCm39)	V86A	probably damaging	Het
Ptgs2	T	A	1: 149,977,099 (GRCm39)	V102E	probably damaging	Het
Rhpn1	T	C	15: 75,583,032 (GRCm39)		probably null	Het
Scand1	T	C	2: 156,153,961 (GRCm39)	D103G	probably damaging	Het
Serpinb6d	T	C	13: 33,850,383 (GRCm39)	I70T	possibly damaging	Het
Slco3a1	A	T	7: 73,934,049 (GRCm39)	S708T	probably damaging	Het
Sprr2d	G	A	3: 92,247,760 (GRCm39)	C67Y	unknown	Het
Trafd1	G	T	5: 121,510,465 (GRCm39)	P567Q	possibly damaging	Het
Trim32	A	G	4: 65,531,682 (GRCm39)	N80D	probably damaging	Het
Vmn1r193	A	G	13: 22,403,113 (GRCm39)	L293S	probably damaging	Het
Vmn2r12	A	T	5: 109,239,747 (GRCm39)	M272K	possibly damaging	Het
Vmn2r90	T	A	17: 17,954,155 (GRCm39)	L773Q	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
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
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'- ACTTGCTTATGTAAGAGGCTACACTG -3'
(R):5'- GTAAACCTGATCTGAAAAGCCTAC -3'

Sequencing Primer
(F):5'- TACATGATGCTCAAAGCCAGTCTC -3'
(R):5'- GAAAAGCCTACTAATTTTACAACAGC -3'

Posted On

2020-06-30