Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03105:Taf2'

418920

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 #

IGL03105

Quality Score

Status

Chromosome

Chromosomal Location

54878527-54935548 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 54909195 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 683 (D683E)

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: D683E

PolyPhen 2 Score 0.257 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000043733
Gene: ENSMUSG00000037343
AA Change: D683E

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000227254

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000228360

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: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adss1	A	G	12: 112,599,155 (GRCm39)	I129V	probably benign	Het
Ankrd35	A	G	3: 96,591,373 (GRCm39)	H553R	probably benign	Het
Brca2	A	G	5: 150,483,950 (GRCm39)	K2923R	probably benign	Het
Cadm3	A	T	1: 173,172,583 (GRCm39)	L174M	probably damaging	Het
Car10	T	C	11: 92,991,101 (GRCm39)	V17A	probably benign	Het
Cep290	A	G	10: 100,387,686 (GRCm39)	K1956E	possibly damaging	Het
Cfhr1	T	A	1: 139,475,565 (GRCm39)		probably benign	Het
Crim1	A	T	17: 78,623,179 (GRCm39)		probably benign	Het
Dedd	G	A	1: 171,168,486 (GRCm39)	R224H	probably damaging	Het
F7	A	T	8: 13,084,001 (GRCm39)	I229L	probably null	Het
Igkv17-121	A	T	6: 68,014,284 (GRCm39)	Q112L	probably damaging	Het
Kcnk13	G	A	12: 100,027,369 (GRCm39)	R148Q	probably damaging	Het
Klk13	T	C	7: 43,370,904 (GRCm39)	L51P	probably benign	Het
Ldb2	A	G	5: 44,956,715 (GRCm39)	S41P	possibly damaging	Het
Magi2	A	G	5: 20,748,616 (GRCm39)	D767G	probably damaging	Het
Mical3	T	C	6: 121,019,199 (GRCm39)	T8A	probably benign	Het
Mkln1	G	T	6: 31,435,994 (GRCm39)	E318*	probably null	Het
Mx1	C	T	16: 97,257,554 (GRCm39)	V68I	possibly damaging	Het
Mylk2	T	C	2: 152,759,279 (GRCm39)	V350A	possibly damaging	Het
Nav2	T	A	7: 49,114,627 (GRCm39)	S870R	probably damaging	Het
Onecut2	A	T	18: 64,474,579 (GRCm39)	K358*	probably null	Het
Or51b4	A	G	7: 103,531,339 (GRCm39)	I37T	possibly damaging	Het
Or52n2c	A	T	7: 104,574,971 (GRCm39)		probably benign	Het
Or7a40	T	C	16: 16,491,390 (GRCm39)	T152A	probably benign	Het
Or7g16	T	C	9: 18,726,685 (GRCm39)	R302G	probably benign	Het
Orai3	A	G	7: 127,372,725 (GRCm39)		probably benign	Het
Rad54b	A	G	4: 11,615,569 (GRCm39)	N859S	probably benign	Het
Saxo4	A	G	19: 10,454,384 (GRCm39)		probably benign	Het
Sec23b	C	T	2: 144,423,940 (GRCm39)	R530W	probably damaging	Het
Slc25a35	T	C	11: 68,859,496 (GRCm39)	F3S	probably damaging	Het
Slc7a11	A	T	3: 50,326,788 (GRCm39)	I491K	possibly damaging	Het
Srrt	A	T	5: 137,298,106 (GRCm39)	N317K	possibly damaging	Het
Sspo	T	C	6: 48,450,592 (GRCm39)		probably benign	Het
Tasor	T	A	14: 27,164,509 (GRCm39)	C272S	probably damaging	Het
Tcerg1l	G	T	7: 137,850,173 (GRCm39)		probably benign	Het
Tg	G	T	15: 66,586,955 (GRCm39)	V1578F	probably benign	Het
Tmem43	G	A	6: 91,457,682 (GRCm39)	G188D	probably damaging	Het
Tnfrsf8	T	C	4: 145,025,354 (GRCm39)	Y73C	probably damaging	Het
Ttc21a	A	G	9: 119,771,642 (GRCm39)	Y147C	probably benign	Het
Ttn	T	C	2: 76,608,394 (GRCm39)	D17843G	probably damaging	Het
Ttn	T	A	2: 76,642,521 (GRCm39)	D11592V	probably damaging	Het
Tubgcp5	T	A	7: 55,475,329 (GRCm39)	I842N	probably damaging	Het
Unc80	A	T	1: 66,511,258 (GRCm39)	T89S	probably damaging	Het
Usp28	T	C	9: 48,950,355 (GRCm39)	M928T	probably damaging	Het
Usp43	A	G	11: 67,770,802 (GRCm39)	S611P	possibly damaging	Het
Utp20	A	G	10: 88,626,958 (GRCm39)	V1000A	probably benign	Het
Zfp263	T	C	16: 3,566,824 (GRCm39)	C380R	probably damaging	Het
Zfyve1	A	C	12: 83,605,413 (GRCm39)	C14G	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
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

2016-08-02