Mutagenetix > Incidental Mutation

Incidental Mutation 'R8278:Taf2'

638084

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

067701-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R8278 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

54878527-54935548 bp(-) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

A to T at 54929361 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Stop codon at position 65 (L65*)

Ref Sequence

ENSEMBL: ENSMUSP00000043733 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably null
Transcript: ENSMUST00000041733
AA Change: L65*

SMART Domains

Protein: ENSMUSP00000043733
Gene: ENSMUSG00000037343
AA Change: L65*

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: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.5%

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: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930562C15Rik	A	T	16: 4,668,040 (GRCm39)	Q477L	probably benign	Het
Adcy10	A	T	1: 165,330,857 (GRCm39)	D40V	probably damaging	Het
Cab39l	T	C	14: 59,776,562 (GRCm39)	Y248H	probably damaging	Het
Casr	G	T	16: 36,336,011 (GRCm39)	D99E	probably damaging	Het
Cdh16	T	C	8: 105,345,107 (GRCm39)	E364G	probably benign	Het
Cep104	C	T	4: 154,068,122 (GRCm39)	T189I	possibly damaging	Het
Cfap418	T	A	4: 10,882,474 (GRCm39)		probably null	Het
Chd7	T	A	4: 8,862,485 (GRCm39)		probably null	Het
Chit1	G	A	1: 134,078,332 (GRCm39)	R380Q	probably benign	Het
Cpne2	A	G	8: 95,281,316 (GRCm39)	K174R	probably damaging	Het
Dchs2	T	A	3: 83,178,310 (GRCm39)	I1121N	probably damaging	Het
Fgf6	A	T	6: 126,992,781 (GRCm39)	Y78F	probably damaging	Het
H2-T10	A	T	17: 36,429,832 (GRCm39)	N320K	probably benign	Het
Heatr3	A	T	8: 88,883,361 (GRCm39)	N398I	possibly damaging	Het
Hrh4	T	C	18: 13,140,284 (GRCm39)	S60P	probably damaging	Het
Ikbip	A	G	10: 90,932,190 (GRCm39)	H278R	probably benign	Het
Jmy	A	T	13: 93,601,224 (GRCm39)	I394N	probably damaging	Het
Klhl8	T	C	5: 104,022,107 (GRCm39)	E314G	probably benign	Het
Lhx9	A	T	1: 138,766,324 (GRCm39)	C164S	probably damaging	Het
Loxl3	G	T	6: 83,025,697 (GRCm39)	G352C	probably damaging	Het
Lrrk1	A	G	7: 65,928,432 (GRCm39)	F1232S	probably benign	Het
Mpnd	A	G	17: 56,319,469 (GRCm39)	T311A	probably benign	Het
Mpp7	A	T	18: 7,444,025 (GRCm39)	D132E	probably benign	Het
Nck2	T	C	1: 43,593,740 (GRCm39)	S316P	probably damaging	Het
Nckap5	T	C	1: 125,955,509 (GRCm39)	S348G	probably damaging	Het
Nyap1	C	T	5: 137,730,077 (GRCm39)	R790H	probably damaging	Het
Or5b124	C	T	19: 13,610,958 (GRCm39)	T161I	possibly damaging	Het
Pdcd11	G	A	19: 47,094,736 (GRCm39)	V507I	probably damaging	Het
Pdzd2	T	C	15: 12,375,995 (GRCm39)	H1380R	probably benign	Het
Pgap1	C	T	1: 54,529,430 (GRCm39)	V763I	probably benign	Het
Pnma8b	G	T	7: 16,680,263 (GRCm39)	V416L	probably damaging	Het
Prkn	A	T	17: 12,269,609 (GRCm39)	N421Y	probably benign	Het
Prpf4	T	C	4: 62,333,493 (GRCm39)		probably null	Het
Psmb5	C	T	14: 54,855,342 (GRCm39)	G36D	probably benign	Het
Ptprq	A	G	10: 107,522,239 (GRCm39)	S571P	possibly damaging	Het
Rap1gap	A	C	4: 137,444,748 (GRCm39)	S254R	probably damaging	Het
Rufy2	A	T	10: 62,843,472 (GRCm39)	D492V	probably benign	Het
Ryr2	C	A	13: 11,610,392 (GRCm39)	E4145*	probably null	Het
Sgsm1	A	G	5: 113,407,958 (GRCm39)	F898L	probably damaging	Het
Slc26a9	C	A	1: 131,689,514 (GRCm39)	A487D	possibly damaging	Het
Slc6a15	T	C	10: 103,229,890 (GRCm39)		probably null	Het
Smad9	A	T	3: 54,696,687 (GRCm39)	T251S	probably benign	Het
Socs3	A	T	11: 117,858,478 (GRCm39)	C193*	probably null	Het
Sox6	T	A	7: 115,076,199 (GRCm39)	D813V	probably damaging	Het
Taf6	G	A	5: 138,178,097 (GRCm39)	A468V	probably benign	Het
Tmem71	T	C	15: 66,426,961 (GRCm39)	D78G	probably damaging	Het
Tob2	T	C	15: 81,735,288 (GRCm39)	N227S	probably benign	Het
Trim34a	C	A	7: 103,898,623 (GRCm39)	Q180K	probably damaging	Het
Ugt1a9	T	C	1: 87,999,378 (GRCm39)	L276P	possibly damaging	Het
Wdr33	G	A	18: 31,960,405 (GRCm39)	R23Q	possibly damaging	Het
Wnt7b	T	G	15: 85,427,887 (GRCm39)	N189H		Het
Zfp609	G	A	9: 65,604,804 (GRCm39)	A1308V	possibly 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
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
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'- ATTTGCAGGGCAGTAAAAGC -3'
(R):5'- ACTCACGTGTACATTGGGAC -3'

Sequencing Primer
(F):5'- GGGAAAGTTTGTTGAAAAACAATCTC -3'
(R):5'- ACATTGGGACTTTCCTTTCAGAG -3'

Posted On

2020-07-28