Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02832:Taf2'

361493

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Taf2

Ensembl Gene

ENSMUSG00000037343

Gene Name

TATA-box binding protein associated factor 2

Synonyms

150kDa, TAFII150, CIF150, 4732460C16Rik, TAF2B

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL02832

Quality Score

Status

Chromosome

Chromosomal Location

54878527-54935548 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 54879959 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Methionine at position 1126 (V1126M)

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: V1126M

PolyPhen 2 Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)

SMART Domains

Protein: ENSMUSP00000043733
Gene: ENSMUSG00000037343
AA Change: V1126M

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: ENSMUST00000228345

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000228896

Coding Region Coverage

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: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts9	G	A	6: 92,784,156 (GRCm39)	T985M	probably damaging	Het
Alpk1	A	G	3: 127,473,592 (GRCm39)	S804P	possibly damaging	Het
Ap3b1	A	G	13: 94,664,835 (GRCm39)	I925V	unknown	Het
Cep135	T	A	5: 76,788,796 (GRCm39)	S1130T	probably damaging	Het
Cers3	A	T	7: 66,431,573 (GRCm39)	M183L	probably benign	Het
Col5a1	A	G	2: 27,842,352 (GRCm39)	E409G	unknown	Het
Cyp4a32	G	T	4: 115,471,818 (GRCm39)	V410F	probably damaging	Het
Ddx1	G	A	12: 13,277,318 (GRCm39)	Q528*	probably null	Het
Dio2	G	A	12: 90,696,178 (GRCm39)		probably benign	Het
Dnah9	G	T	11: 65,931,172 (GRCm39)	A2008E	probably damaging	Het
Dnajc2	A	G	5: 21,965,408 (GRCm39)	V457A	probably benign	Het
Dytn	T	C	1: 63,682,532 (GRCm39)	T372A	probably benign	Het
Fam135a	T	C	1: 24,067,714 (GRCm39)	I152V	probably benign	Het
Fmnl2	C	T	2: 52,748,261 (GRCm39)	A36V	possibly damaging	Het
Galnt7	G	A	8: 58,005,531 (GRCm39)	T234I	probably damaging	Het
Gba1	A	C	3: 89,110,809 (GRCm39)	I6L	probably benign	Het
Gja10	A	G	4: 32,602,147 (GRCm39)	V79A	probably damaging	Het
Gpd2	T	A	2: 57,228,991 (GRCm39)	V265E	probably damaging	Het
Gpld1	T	C	13: 25,136,861 (GRCm39)	Y60H	probably damaging	Het
H2bc27	A	G	11: 58,839,869 (GRCm39)	K35R	probably benign	Het
Heatr9	A	G	11: 83,409,672 (GRCm39)		probably benign	Het
Krt75	T	A	15: 101,476,508 (GRCm39)	D419V	probably benign	Het
Lrig3	A	T	10: 125,842,871 (GRCm39)	I599F	probably benign	Het
Lrp4	A	G	2: 91,341,925 (GRCm39)	D1846G	probably damaging	Het
Mamdc2	C	T	19: 23,281,215 (GRCm39)	A653T	probably damaging	Het
Myo7a	A	T	7: 97,740,227 (GRCm39)		probably null	Het
Notch2	A	G	3: 98,044,689 (GRCm39)	D1537G	probably benign	Het
Or10k2	G	A	8: 84,268,100 (GRCm39)	C109Y	probably damaging	Het
Or51a25	G	T	7: 102,372,858 (GRCm39)	H280N	probably benign	Het
Or52ae7	A	T	7: 103,119,905 (GRCm39)	I220L	probably benign	Het
Papss1	A	C	3: 131,288,280 (GRCm39)	D84A	probably damaging	Het
Pcdhb16	T	A	18: 37,611,527 (GRCm39)	D162E	probably damaging	Het
Rab11fip1	C	T	8: 27,642,840 (GRCm39)	R653Q	possibly damaging	Het
Rap1gap2	A	T	11: 74,303,281 (GRCm39)		probably benign	Het
Rasal2	T	C	1: 156,984,777 (GRCm39)	D990G	probably damaging	Het
Rnf32	T	C	5: 29,410,701 (GRCm39)		probably null	Het
Rp1	T	C	1: 4,419,936 (GRCm39)	D392G	probably benign	Het
Scn9a	T	C	2: 66,398,373 (GRCm39)	D79G	probably damaging	Het
Selenon	A	T	4: 134,268,219 (GRCm39)	V438D	probably damaging	Het
Slc47a1	G	A	11: 61,254,239 (GRCm39)	H158Y	probably benign	Het
Slc5a12	A	T	2: 110,471,160 (GRCm39)	E463D	probably benign	Het
Tas2r143	G	T	6: 42,377,259 (GRCm39)	V30L	possibly damaging	Het
Tcea3	G	A	4: 135,995,424 (GRCm39)	V256M	probably damaging	Het
Thy1	A	G	9: 43,958,111 (GRCm39)	T80A	probably benign	Het
Tmem9	A	G	1: 135,947,469 (GRCm39)	N47S	probably damaging	Het
Tmprss11g	T	C	5: 86,645,128 (GRCm39)	Q101R	probably benign	Het
Trim66	C	T	7: 109,059,704 (GRCm39)	C792Y	probably damaging	Het
Tstd2	A	T	4: 46,124,949 (GRCm39)	M226K	probably damaging	Het
Utrn	G	T	10: 12,613,937 (GRCm39)	T378K	possibly damaging	Het
Vmn2r23	A	G	6: 123,681,355 (GRCm39)	I88V	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
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
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

Posted On

2015-12-18