Mutagenetix > Incidental Mutation

Incidental Mutation 'R5908:Taf2'

460814

Institutional Source

Beutler Lab

Gene Symbol

Taf2

Ensembl Gene

ENSMUSG00000037343

Gene Name

TATA-box binding protein associated factor 2

Synonyms

CIF150, 150kDa, TAF2B, 4732460C16Rik, TAFII150

MMRRC Submission

044105-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R5908 (G1)

Quality Score

139

Status

Not validated

Chromosome

Chromosomal Location

55015131-55072152 bp(-) (GRCm38)

Type of Mutation

unclassified

DNA Base Change (assembly)

G to A at 55072006 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000105860 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000023059] [ENSMUST00000041733] [ENSMUST00000110231]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000023059

SMART Domains

Protein: ENSMUSP00000023059
Gene: ENSMUSG00000022422

Domain	Start	End	E-Value	Type
low complexity region	38	47	N/A	INTRINSIC
Pfam:DUF2036	48	364	7.3e-110	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000041733

SMART Domains

Protein: ENSMUSP00000043733
Gene: ENSMUSG00000037343

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

probably benign
Transcript: ENSMUST00000110231

SMART Domains

Protein: ENSMUSP00000105860
Gene: ENSMUSG00000022422

Domain	Start	End	E-Value	Type
low complexity region	38	47	N/A	INTRINSIC
Pfam:DUF2036	49	271	5.9e-62	PFAM
Pfam:DUF2036	284	426	4.3e-38	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000226864

Coding Region Coverage

1x: 99.8%
3x: 99.4%
10x: 97.3%
20x: 91.8%

Validation Efficiency

97% (69/71)

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: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933416C03Rik	A	T	10: 116,113,228	I131N	probably benign	Het
Abcc10	A	T	17: 46,313,804	L198H	probably damaging	Het
Anks1	C	T	17: 27,996,019	T480I	probably damaging	Het
Arhgef18	G	A	8: 3,453,165	R857Q	probably damaging	Het
B230208B08Rik	A	G	4: 78,214,060		noncoding transcript	Het
B9d2	T	A	7: 25,683,299	W33R	probably damaging	Het
Bcl2a1c	A	G	9: 114,330,504	T117A	probably benign	Het
Btbd8	T	G	5: 107,507,594	D574E	probably damaging	Het
C77080	A	G	4: 129,222,148	S908P	probably damaging	Het
Cabin1	A	G	10: 75,721,532	S1091P	probably damaging	Het
Clip3	C	A	7: 30,296,873	D64E	probably damaging	Het
Col6a5	C	G	9: 105,862,801	D2540H	possibly damaging	Het
Commd5	A	T	15: 76,900,936	M178L	probably benign	Het
Crtc3	T	A	7: 80,595,794	H361L	possibly damaging	Het
Dip2b	T	A	15: 100,151,184	L153Q	possibly damaging	Het
Eif2s1	T	A	12: 78,880,043	V189D	probably damaging	Het
Etl4	C	T	2: 20,743,907	A483V	probably damaging	Het
Foxo3	T	C	10: 42,196,587	I645V	probably benign	Het
Gm4841	A	G	18: 60,270,434	S196P	possibly damaging	Het
Hip1	A	G	5: 135,424,863		probably null	Het
Il1f5	G	T	2: 24,277,490		probably benign	Het
Ints2	A	G	11: 86,215,545		probably null	Het
Khnyn	A	G	14: 55,887,066	D259G	probably benign	Het
Lyst	T	A	13: 13,696,761	Y2694*	probably null	Het
Map4k2	T	C	19: 6,351,316		probably benign	Het
March10	C	T	11: 105,390,239	V407I	probably benign	Het
Mast4	C	A	13: 102,738,256	V1367F	probably damaging	Het
Mrgprb3	A	T	7: 48,643,618	S62T	probably damaging	Het
Mthfd1l	T	C	10: 4,089,392	F801S	probably damaging	Het
Notch2	T	C	3: 98,123,923		probably benign	Het
Nr2e1	T	C	10: 42,572,769	S158G	probably benign	Het
Nup214	A	G	2: 31,991,341	I404V	probably benign	Het
Olfr702	T	C	7: 106,824,197	T110A	probably benign	Het
Pik3c2g	G	A	6: 139,768,710	R196H		Het
Pik3r3	A	T	4: 116,272,758	D213V	probably benign	Het
Pip5k1b	A	T	19: 24,397,137	S27T	possibly damaging	Het
Pkp1	G	A	1: 135,918,883	Q44*	probably null	Het
Pnmal2	C	T	7: 16,947,043	R651C	unknown	Het
Pnpt1	T	A	11: 29,130,887	S44T	probably benign	Het
Polb	A	T	8: 22,642,303		probably null	Het
Pom121l2	A	G	13: 21,981,814	N85S	probably damaging	Het
Prim1	A	G	10: 128,018,024	K104E	probably damaging	Het
Prl8a1	T	A	13: 27,574,057	Y223F	probably benign	Het
Rbak	T	G	5: 143,173,636	H554P	probably damaging	Het
Serpina3c	T	C	12: 104,151,711	R123G	probably benign	Het
Sh3bp4	T	G	1: 89,145,883	S818A	probably damaging	Het
Sh3rf3	C	G	10: 59,049,448	H384Q	probably benign	Het
Slc9a8	C	T	2: 167,451,170		probably benign	Het
Sptbn4	T	C	7: 27,404,253	E1181G	probably benign	Het
Tbc1d9	A	T	8: 83,249,545	M578L	probably benign	Het
Tinagl1	G	T	4: 130,172,970	Y111*	probably null	Het
Tor2a	T	C	2: 32,761,685	L304P	probably damaging	Het
Trp53bp1	A	G	2: 121,236,823	V474A	probably benign	Het
Trrap	C	A	5: 144,786,708	A325E	probably damaging	Het
Ube4a	A	G	9: 44,948,024		probably null	Het
Use1	G	C	8: 71,369,613	K239N	probably damaging	Het
Vps9d1	G	T	8: 123,246,824	Q407K	probably benign	Het
Zfp36l1	A	T	12: 80,109,675	S311T	possibly damaging	Het
Zfp729b	T	C	13: 67,591,255	K964E	probably benign	Het
Zfp974	T	A	7: 27,910,957	M448L	probably benign	Het
Zfyve28	A	T	5: 34,216,870	V600E	possibly damaging	Het

Other mutations in Taf2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00331:Taf2	APN	15	55071449	critical splice acceptor site	probably null
IGL00475:Taf2	APN	15	55055850	nonsense	probably null
IGL00549:Taf2	APN	15	55031115	missense	probably benign	0.03
IGL00839:Taf2	APN	15	55045778	nonsense	probably null
IGL01089:Taf2	APN	15	55016581	missense	probably benign
IGL01305:Taf2	APN	15	55048274	missense	probably damaging	0.99
IGL01532:Taf2	APN	15	55049486	missense	possibly damaging	0.94
IGL01903:Taf2	APN	15	55060016	missense	probably benign	0.03
IGL02324:Taf2	APN	15	55028376	missense	probably benign
IGL02328:Taf2	APN	15	55028376	missense	probably benign
IGL02405:Taf2	APN	15	55034155	splice site	probably benign
IGL02671:Taf2	APN	15	55034176	missense	probably benign	0.01
IGL02832:Taf2	APN	15	55016563	missense	probably benign	0.01
IGL03105:Taf2	APN	15	55045799	missense	probably benign	0.26
IGL03118:Taf2	APN	15	55052163	missense	probably damaging	1.00
ANU22:Taf2	UTSW	15	55048274	missense	probably damaging	0.99
R0104:Taf2	UTSW	15	55038338	missense	probably benign	0.02
R0104:Taf2	UTSW	15	55038338	missense	probably benign	0.02
R0183:Taf2	UTSW	15	55055790	missense	possibly damaging	0.89
R0326:Taf2	UTSW	15	55047460	missense	probably damaging	0.97
R0362:Taf2	UTSW	15	55045929	missense	probably damaging	1.00
R0423:Taf2	UTSW	15	55064682	missense	probably benign	0.02
R0562:Taf2	UTSW	15	55022188	splice site	probably benign
R0609:Taf2	UTSW	15	55060050	missense	probably damaging	1.00
R0655:Taf2	UTSW	15	55038294	missense	probably damaging	1.00
R0689:Taf2	UTSW	15	55063065	missense	possibly damaging	0.60
R0743:Taf2	UTSW	15	55016461	small deletion	probably benign
R0898:Taf2	UTSW	15	55060084	missense	probably damaging	0.97
R0969:Taf2	UTSW	15	55031157	critical splice acceptor site	probably null
R0974:Taf2	UTSW	15	55016461	small deletion	probably benign
R1145:Taf2	UTSW	15	55016461	small deletion	probably benign
R1145:Taf2	UTSW	15	55016461	small deletion	probably benign
R1160:Taf2	UTSW	15	55071397	missense	probably benign	0.01
R1376:Taf2	UTSW	15	55016461	small deletion	probably benign
R1388:Taf2	UTSW	15	55036625	missense	probably benign	0.00
R1416:Taf2	UTSW	15	55038410	missense	possibly damaging	0.95
R1458:Taf2	UTSW	15	55059915	missense	probably damaging	0.99
R1477:Taf2	UTSW	15	55062172	missense	possibly damaging	0.87
R1755:Taf2	UTSW	15	55016454	missense	probably damaging	1.00
R1766:Taf2	UTSW	15	55071397	missense	probably benign	0.01
R2090:Taf2	UTSW	15	55016486	missense	probably damaging	0.99
R2228:Taf2	UTSW	15	55064646	missense	possibly damaging	0.94
R2519:Taf2	UTSW	15	55052247	missense	probably benign	0.03
R4073:Taf2	UTSW	15	55052237	missense	probably damaging	1.00
R4470:Taf2	UTSW	15	55058880	missense	possibly damaging	0.70
R4471:Taf2	UTSW	15	55058880	missense	possibly damaging	0.70
R4472:Taf2	UTSW	15	55058880	missense	possibly damaging	0.70
R4716:Taf2	UTSW	15	55065968	missense	probably benign	0.02
R4937:Taf2	UTSW	15	55027223	nonsense	probably null
R5082:Taf2	UTSW	15	55060045	missense	probably benign	0.41
R5335:Taf2	UTSW	15	55045740	missense	probably benign	0.14
R5383:Taf2	UTSW	15	55049419	missense	possibly damaging	0.78
R5771:Taf2	UTSW	15	55059939	missense	probably benign	0.01
R5862:Taf2	UTSW	15	55048323	missense	possibly damaging	0.95
R5873:Taf2	UTSW	15	55038422	missense	probably benign	0.00
R6033:Taf2	UTSW	15	55058901	missense	probably damaging	1.00
R6033:Taf2	UTSW	15	55058901	missense	probably damaging	1.00
R6159:Taf2	UTSW	15	55063044	missense	possibly damaging	0.48
R6568:Taf2	UTSW	15	55064630	missense	probably damaging	1.00
R7094:Taf2	UTSW	15	55060086	missense	probably benign	0.27
R7174:Taf2	UTSW	15	55048739	missense	possibly damaging	0.51
R7241:Taf2	UTSW	15	55062141	missense	probably benign	0.01
R7561:Taf2	UTSW	15	55055833	missense	probably benign	0.16
R7583:Taf2	UTSW	15	55064676	nonsense	probably null
R7818:Taf2	UTSW	15	55065930	missense	probably benign
R7905:Taf2	UTSW	15	55047432	missense	possibly damaging	0.90
R8006:Taf2	UTSW	15	55048701	missense	probably damaging	1.00
R8017:Taf2	UTSW	15	55064617	missense	possibly damaging	0.66
R8019:Taf2	UTSW	15	55064617	missense	possibly damaging	0.66
R8119:Taf2	UTSW	15	55031130	missense	probably benign	0.00
R8127:Taf2	UTSW	15	55059988	missense	probably damaging	1.00
R8128:Taf2	UTSW	15	55059988	missense	probably damaging	1.00
R8129:Taf2	UTSW	15	55059988	missense	probably damaging	1.00
R8278:Taf2	UTSW	15	55065965	nonsense	probably null
R8290:Taf2	UTSW	15	55063020	missense	probably damaging	1.00
R8762:Taf2	UTSW	15	55047453	missense	probably benign	0.16
R8832:Taf2	UTSW	15	55064605	missense	possibly damaging	0.86
R8916:Taf2	UTSW	15	55036535	missense	probably benign	0.26
R8937:Taf2	UTSW	15	55047453	missense	probably benign	0.16
R9006:Taf2	UTSW	15	55045905	missense	possibly damaging	0.94
R9138:Taf2	UTSW	15	55016461	small deletion	probably benign
R9240:Taf2	UTSW	15	55063068	missense	probably null	1.00
R9257:Taf2	UTSW	15	55066013	missense	possibly damaging	0.46
R9485:Taf2	UTSW	15	55048271	missense	probably benign	0.05
R9762:Taf2	UTSW	15	55031044	critical splice donor site	probably null
R9766:Taf2	UTSW	15	55047485	critical splice acceptor site	probably null
R9796:Taf2	UTSW	15	55047436	missense	probably damaging	0.98

Predicted Primers

Posted On

2017-02-28