Mutagenetix > Incidental Mutation

Incidental Mutation 'R6238:Taf4'

505037

Institutional Source

Beutler Lab

Gene Symbol

Taf4

Ensembl Gene

ENSMUSG00000039117

Gene Name

TATA-box binding protein associated factor 4

Synonyms

TAFII130, Taf2c1, TAFII135, Taf4a

MMRRC Submission

044401-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R6238 (G1)

Quality Score

207.009

Status

Validated

Chromosome

Chromosomal Location

179553945-179618439 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 179573832 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Phenylalanine at position 679 (I679F)

Ref Sequence

ENSEMBL: ENSMUSP00000153863 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000041618] [ENSMUST00000227325]

AlphaFold

E9QAP7

Predicted Effect

possibly damaging
Transcript: ENSMUST00000041618
AA Change: I679F

PolyPhen 2 Score 0.833 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000038610
Gene: ENSMUSG00000039117
AA Change: I679F

Domain	Start	End	E-Value	Type
low complexity region	28	44	N/A	INTRINSIC
low complexity region	64	181	N/A	INTRINSIC
SCOP:d1hqva_	312	325	6e-3	SMART
low complexity region	339	371	N/A	INTRINSIC
low complexity region	395	408	N/A	INTRINSIC
low complexity region	428	443	N/A	INTRINSIC
low complexity region	445	458	N/A	INTRINSIC
internal_repeat_1	465	500	2.85e-5	PROSPERO
low complexity region	537	547	N/A	INTRINSIC
TAFH	550	642	4.9e-54	SMART
internal_repeat_1	692	727	2.85e-5	PROSPERO
low complexity region	767	773	N/A	INTRINSIC
Pfam:TAF4	791	1039	3.5e-81	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000154961

Predicted Effect

probably damaging
Transcript: ENSMUST00000227325
AA Change: I679F

PolyPhen 2 Score 0.973 (Sensitivity: 0.76; Specificity: 0.96)

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.2%
20x: 94.8%

Validation Efficiency

100% (62/62)

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 has been shown to potentiate transcriptional activation by retinoic acid, thyroid hormone and vitamin D3 receptors. In addition, this subunit interacts with the transcription factor CREB, which has a glutamine-rich activation domain, and binds to other proteins containing glutamine-rich regions. Aberrant binding to this subunit by proteins with expanded polyglutamine regions has been suggested as one of the pathogenetic mechanisms underlying a group of neurodegenerative disorders referred to as polyglutamine diseases. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for deletions of this marker die embryonically sometime around E9.5. Conditional expression of this allele in the epidermis causes skin barrier defects and defects in hair growth. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2610028H24Rik	A	C	10: 76,285,096 (GRCm39)	T2P	possibly damaging	Het
2610042L04Rik	A	G	14: 4,348,962 (GRCm38)	N41S	probably damaging	Het
4933402N03Rik	T	C	7: 130,747,863 (GRCm39)	D43G	probably benign	Het
Adcy10	C	A	1: 165,403,297 (GRCm39)	Y1598*	probably null	Het
Adgrv1	G	A	13: 81,614,402 (GRCm39)	T3997M	probably benign	Het
Amfr	A	C	8: 94,726,992 (GRCm39)	F74V	probably damaging	Het
Ankrd13a	T	C	5: 114,924,787 (GRCm39)	Y91H	probably benign	Het
Baiap3	A	G	17: 25,464,732 (GRCm39)	S767P	probably benign	Het
Car12	C	T	9: 66,661,008 (GRCm39)	T124I	probably damaging	Het
Casp9	G	T	4: 141,534,448 (GRCm39)	G286V	probably damaging	Het
Cc2d2a	T	A	5: 43,828,577 (GRCm39)	D18E	probably benign	Het
Cdc27	T	C	11: 104,419,270 (GRCm39)	N221D	probably damaging	Het
Cebpz	A	G	17: 79,244,339 (GRCm39)	S41P	possibly damaging	Het
Cenpo	T	A	12: 4,281,968 (GRCm39)	S10C	possibly damaging	Het
Chid1	A	G	7: 141,076,049 (GRCm39)	V368A	probably benign	Het
Clca3a1	C	A	3: 144,714,716 (GRCm39)	V634L	probably benign	Het
Cmtr1	A	G	17: 29,901,122 (GRCm39)	D683G	probably damaging	Het
Cpsf3	G	T	12: 21,350,163 (GRCm39)	R294L	probably damaging	Het
Ddrgk1	G	A	2: 130,496,599 (GRCm39)	T255M	possibly damaging	Het
Dennd6a	T	A	14: 26,337,813 (GRCm39)		probably null	Het
Dnah10	A	G	5: 124,820,743 (GRCm39)	R526G	probably damaging	Het
Dock3	G	A	9: 106,790,147 (GRCm39)	T1484I	probably benign	Het
Efcab10	T	C	12: 33,448,433 (GRCm39)	Y89H	probably damaging	Het
Etl4	T	A	2: 20,806,379 (GRCm39)	D1200E	probably damaging	Het
Fbn1	T	A	2: 125,166,865 (GRCm39)	D2017V	probably damaging	Het
Ftmt	G	A	18: 52,465,307 (GRCm39)	V208M	probably damaging	Het
Fzd10	T	C	5: 128,679,995 (GRCm39)	Y572H	probably damaging	Het
Gcc1	T	C	6: 28,420,742 (GRCm39)	K39E	probably damaging	Het
Hydin	A	G	8: 111,118,743 (GRCm39)		probably null	Het
Lif	A	G	11: 4,218,940 (GRCm39)	E73G	possibly damaging	Het
Lrtm1	C	A	14: 28,749,628 (GRCm39)	Q357K	probably benign	Het
Mef2d	T	A	3: 88,066,852 (GRCm39)	L205Q	probably damaging	Het
Naalad2	T	A	9: 18,296,361 (GRCm39)	E96D	probably damaging	Het
Nbas	T	C	12: 13,532,596 (GRCm39)	I1768T	probably benign	Het
Nodal	T	C	10: 61,259,258 (GRCm39)	S232P	probably damaging	Het
Or52ab7	A	T	7: 102,978,115 (GRCm39)	I141F	possibly damaging	Het
Or8b12c	A	G	9: 37,715,317 (GRCm39)	T37A	probably benign	Het
Parl	G	A	16: 20,120,963 (GRCm39)	R39C	possibly damaging	Het
Pcdha9	G	A	18: 37,132,028 (GRCm39)	V366I	probably benign	Het
Pdzd8	A	G	19: 59,288,994 (GRCm39)	V802A	probably benign	Het
Plcl2	T	C	17: 50,913,873 (GRCm39)	V294A	probably damaging	Het
Plxna2	T	A	1: 194,472,504 (GRCm39)	S1083T	probably benign	Het
Polr2a	G	T	11: 69,638,047 (GRCm39)	L141I	possibly damaging	Het
Ptpre	C	A	7: 135,272,909 (GRCm39)	R468S	probably damaging	Het
Raet1e	T	A	10: 22,056,770 (GRCm39)	N115K	probably benign	Het
Rfx8	C	A	1: 39,709,554 (GRCm39)	S491I	probably damaging	Het
Rpe	T	A	1: 66,740,807 (GRCm39)	L48*	probably null	Het
Skint5	A	T	4: 113,800,064 (GRCm39)		probably null	Het
Spata24	C	A	18: 35,793,389 (GRCm39)	S111I	possibly damaging	Het
Suz12	G	C	11: 79,893,006 (GRCm39)		probably benign	Het
Tlr1	G	T	5: 65,084,472 (GRCm39)	P35Q	possibly damaging	Het
Tonsl	T	C	15: 76,520,418 (GRCm39)		probably null	Het
Tsen54	G	A	11: 115,711,513 (GRCm39)	R310H	probably benign	Het
Ttc7b	A	G	12: 100,461,681 (GRCm39)	S99P	probably benign	Het
Ttn	A	T	2: 76,641,587 (GRCm39)	L5176Q	possibly damaging	Het
Uhmk1	T	A	1: 170,027,563 (GRCm39)	N378I	probably damaging	Het
Vmn2r107	A	G	17: 20,565,849 (GRCm39)	T55A	probably benign	Het
Vmn2r74	C	T	7: 85,601,280 (GRCm39)	C786Y	probably damaging	Het
Wdr20rt	C	T	12: 65,272,964 (GRCm39)		probably benign	Het
Zfand2a	T	A	5: 139,467,746 (GRCm39)	H42L	probably damaging	Het
Zfp990	T	A	4: 145,264,483 (GRCm39)	C494S	probably damaging	Het
Zkscan4	A	T	13: 21,668,757 (GRCm39)	R403W	possibly damaging	Het

Other mutations in Taf4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00334:Taf4	APN	2	179,618,418 (GRCm39)	missense	unknown
IGL00517:Taf4	APN	2	179,566,206 (GRCm39)	splice site	probably benign
IGL02159:Taf4	APN	2	179,580,263 (GRCm39)	missense	probably benign	0.24
IGL02254:Taf4	APN	2	179,562,977 (GRCm39)	missense	probably benign	0.25
IGL03366:Taf4	APN	2	179,576,847 (GRCm39)	missense	probably damaging	1.00
R0049:Taf4	UTSW	2	179,565,884 (GRCm39)	missense	probably damaging	0.98
R0049:Taf4	UTSW	2	179,565,884 (GRCm39)	missense	probably damaging	0.98
R1267:Taf4	UTSW	2	179,571,117 (GRCm39)	missense	possibly damaging	0.46
R1495:Taf4	UTSW	2	179,574,820 (GRCm39)	missense	probably damaging	1.00
R1560:Taf4	UTSW	2	179,577,746 (GRCm39)	missense	probably benign	0.14
R1756:Taf4	UTSW	2	179,618,324 (GRCm39)	missense	unknown
R1893:Taf4	UTSW	2	179,574,823 (GRCm39)	missense	probably damaging	0.98
R1932:Taf4	UTSW	2	179,573,822 (GRCm39)	missense	probably damaging	1.00
R2213:Taf4	UTSW	2	179,577,683 (GRCm39)	critical splice donor site	probably null
R3896:Taf4	UTSW	2	179,573,807 (GRCm39)	missense	probably benign	0.45
R4050:Taf4	UTSW	2	179,573,805 (GRCm39)	missense	probably damaging	1.00
R4448:Taf4	UTSW	2	179,577,764 (GRCm39)	missense	possibly damaging	0.65
R4736:Taf4	UTSW	2	179,566,287 (GRCm39)	missense	probably damaging	1.00
R5124:Taf4	UTSW	2	179,573,822 (GRCm39)	missense	probably damaging	1.00
R6155:Taf4	UTSW	2	179,555,317 (GRCm39)	missense	probably damaging	1.00
R6292:Taf4	UTSW	2	179,565,780 (GRCm39)	missense	probably damaging	1.00
R7749:Taf4	UTSW	2	179,573,822 (GRCm39)	missense	probably damaging	1.00
R7751:Taf4	UTSW	2	179,573,822 (GRCm39)	missense	probably damaging	1.00
R7752:Taf4	UTSW	2	179,573,822 (GRCm39)	missense	probably damaging	1.00
R7754:Taf4	UTSW	2	179,573,822 (GRCm39)	missense	probably damaging	1.00
R7835:Taf4	UTSW	2	179,573,822 (GRCm39)	missense	probably damaging	1.00
R7879:Taf4	UTSW	2	179,573,822 (GRCm39)	missense	probably damaging	1.00
R7880:Taf4	UTSW	2	179,577,726 (GRCm39)	nonsense	probably null
R7880:Taf4	UTSW	2	179,573,822 (GRCm39)	missense	probably damaging	1.00
R7883:Taf4	UTSW	2	179,571,088 (GRCm39)	missense	probably damaging	1.00
R7899:Taf4	UTSW	2	179,573,822 (GRCm39)	missense	probably damaging	1.00
R7902:Taf4	UTSW	2	179,573,822 (GRCm39)	missense	probably damaging	1.00
R7905:Taf4	UTSW	2	179,573,822 (GRCm39)	missense	probably damaging	1.00
R9743:Taf4	UTSW	2	179,581,592 (GRCm39)	missense	possibly damaging	0.79

Predicted Primers

PCR Primer
(F):5'- ACACGTCTTTCCAGCAGGAG -3'
(R):5'- AATGTTCCAGCTGTGCCTG -3'

Sequencing Primer
(F):5'- GGAGCTTCCTTGCCTGC -3'
(R):5'- AGCTTACCTGCCTTGAGACAG -3'

Posted On

2018-02-28