Mutagenetix > Incidental Mutation

Incidental Mutation 'R1495:Taf4'

168764

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

039546-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R1495 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

179553945-179618439 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 179574820 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Serine at position 595 (F595S)

Ref Sequence

ENSEMBL: ENSMUSP00000153863 (fasta)

Gene Model

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

AlphaFold

E9QAP7

Predicted Effect

probably damaging
Transcript: ENSMUST00000041618
AA Change: F595S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000038610
Gene: ENSMUSG00000039117
AA Change: F595S

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: F595S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 96.5%
20x: 93.3%

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 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: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4833420G17Rik	A	G	13: 119,614,356 (GRCm39)	N488S	probably benign	Het
Acot10	G	A	15: 20,665,593 (GRCm39)	R383C	probably damaging	Het
Acsm2	A	G	7: 119,177,349 (GRCm39)	D263G	probably damaging	Het
Adcy2	G	T	13: 68,944,654 (GRCm39)	Q243K	probably benign	Het
Aggf1	G	A	13: 95,492,921 (GRCm39)	R563*	probably null	Het
Agt	A	G	8: 125,286,194 (GRCm39)	F296S	probably damaging	Het
Akap14	T	C	X: 36,427,618 (GRCm39)	D39G	possibly damaging	Het
Akt3	T	C	1: 176,930,608 (GRCm39)	M117V	probably benign	Het
Ankar	T	C	1: 72,682,450 (GRCm39)	T1154A	probably benign	Het
Arvcf	T	A	16: 18,207,251 (GRCm39)	L70Q	probably damaging	Het
Ccdc171	A	T	4: 83,599,332 (GRCm39)	K724*	probably null	Het
Ccdc91	A	G	6: 147,435,670 (GRCm39)	T85A	possibly damaging	Het
Ccdc9b	T	G	2: 118,591,013 (GRCm39)	K173N	probably damaging	Het
Cdh3	C	T	8: 107,265,629 (GRCm39)	T224I	probably damaging	Het
Clstn3	T	C	6: 124,426,876 (GRCm39)	I482V	probably benign	Het
Cnot9	A	G	1: 74,562,759 (GRCm39)	E176G	probably damaging	Het
Cntnap4	T	G	8: 113,608,395 (GRCm39)	L1272V	possibly damaging	Het
Cyb5a	T	A	18: 84,869,605 (GRCm39)	M1K	probably null	Het
Cyp2c23	A	G	19: 43,993,947 (GRCm39)	I473T	probably benign	Het
Dbil5	T	A	11: 76,109,276 (GRCm39)	M60K	probably benign	Het
Defa38	T	A	8: 21,585,217 (GRCm39)	Q75L	probably benign	Het
Dgkg	A	T	16: 22,319,129 (GRCm39)	L644Q	probably damaging	Het
Disp3	T	C	4: 148,334,282 (GRCm39)	I1004V	probably benign	Het
Egf	T	A	3: 129,506,655 (GRCm39)	I599F	probably damaging	Het
Epc2	A	G	2: 49,426,675 (GRCm39)	T145A	probably damaging	Het
Extl1	TGCGTTGCACCGATACCGGG	TG	4: 134,084,988 (GRCm39)		probably benign	Het
Extl3	A	T	14: 65,313,316 (GRCm39)	V622E	probably benign	Het
Fam227a	C	T	15: 79,510,446 (GRCm39)	V403I	probably benign	Het
Fat2	T	A	11: 55,153,499 (GRCm39)	D3571V	probably benign	Het
Fcho2	A	G	13: 98,886,358 (GRCm39)		probably null	Het
Fras1	A	G	5: 96,676,445 (GRCm39)	N64S	possibly damaging	Het
Gabbr1	A	G	17: 37,366,832 (GRCm39)	N352S	possibly damaging	Het
Gabra1	T	C	11: 42,045,771 (GRCm39)	N113S	probably damaging	Het
Glg1	T	C	8: 111,924,307 (GRCm39)	Y227C	probably damaging	Het
Gm5141	A	T	13: 62,922,084 (GRCm39)	C362S	probably damaging	Het
Gprc6a	T	A	10: 51,504,533 (GRCm39)	T104S	probably benign	Het
Jph1	A	C	1: 17,161,876 (GRCm39)	V262G	probably benign	Het
Kank1	C	G	19: 25,387,713 (GRCm39)	T434R	probably damaging	Het
Kmt2e	A	G	5: 23,704,325 (GRCm39)	S1173G	possibly damaging	Het
Krt75	G	A	15: 101,482,308 (GRCm39)		probably benign	Het
Lyzl1	G	T	18: 4,181,192 (GRCm39)	W77L	probably null	Het
Nipbl	T	G	15: 8,380,764 (GRCm39)	N676T	probably benign	Het
Obscn	C	T	11: 58,970,986 (GRCm39)	S2300N	probably damaging	Het
Or9a2	T	G	6: 41,748,837 (GRCm39)	Y132S	probably damaging	Het
Osbpl1a	T	A	18: 12,891,896 (GRCm39)	M350L	probably benign	Het
Pecam1	T	C	11: 106,579,682 (GRCm39)	D460G	probably damaging	Het
Pik3c2a	T	A	7: 115,987,300 (GRCm39)	K540N	probably benign	Het
Prdm12	T	A	2: 31,530,205 (GRCm39)	I32N	probably damaging	Het
Prkd1	T	C	12: 50,413,135 (GRCm39)	S679G	probably damaging	Het
Psen2	C	T	1: 180,056,419 (GRCm39)	A393T	probably damaging	Het
Ptprh	T	A	7: 4,583,888 (GRCm39)	T235S	probably benign	Het
Ranbp3	C	T	17: 57,012,527 (GRCm39)	P182L	probably benign	Het
Serpinb7	A	T	1: 107,379,390 (GRCm39)	K266*	probably null	Het
Sesn3	T	C	9: 14,219,817 (GRCm39)	S69P	probably damaging	Het
Slc12a6	T	C	2: 112,184,535 (GRCm39)	M818T	probably damaging	Het
Slc25a53	C	A	X: 135,916,084 (GRCm39)	C4F	unknown	Het
Snx1	T	A	9: 66,003,879 (GRCm39)	L255F	probably benign	Het
Sptbn2	T	G	19: 4,769,004 (GRCm39)	S46A	possibly damaging	Het
Tec	A	T	5: 72,944,098 (GRCm39)	V103E	probably damaging	Het
Tmco5b	T	C	2: 113,121,136 (GRCm39)	S147P	possibly damaging	Het
Uchl5	C	T	1: 143,675,675 (GRCm39)	T93I	possibly damaging	Het
Usp14	A	T	18: 10,004,994 (GRCm39)	S225T	probably benign	Het
Usp45	C	A	4: 21,797,385 (GRCm39)	Q238K	possibly damaging	Het
Vmn1r6	T	A	6: 56,980,058 (GRCm39)	M218K	possibly damaging	Het
Zfp84	T	A	7: 29,476,728 (GRCm39)	Y473*	probably null	Het
Zyg11b	G	A	4: 108,123,410 (GRCm39)	P186S	probably 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
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
R6238:Taf4	UTSW	2	179,573,832 (GRCm39)	missense	probably damaging	0.97
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'- CTGGCTGCAATGCACTTCAGAAAC -3'
(R):5'- ACACACTTGCTGTCAGAAGGGC -3'

Sequencing Primer
(F):5'- GCCCTACACAAGTGTGCTAGAG -3'
(R):5'- CCAGACCAGTGTGATGCTAGG -3'

Posted On

2014-04-13