Mutagenetix > Incidental Mutation

Incidental Mutation 'R8337:Taf5l'

644677

Institutional Source

Beutler Lab

Gene Symbol

Taf5l

Ensembl Gene

ENSMUSG00000038697

Gene Name

TATA-box binding protein associated factor 5 like

Synonyms

1110005N04Rik

MMRRC Submission

067800-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.962) question?

Stock #

R8337 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

124723057-124748136 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 124724841 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 326 (N326S)

Ref Sequence

ENSEMBL: ENSMUSP00000090726 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000093039] [ENSMUST00000127664] [ENSMUST00000165628]

AlphaFold

Q91WQ5

Predicted Effect

probably benign
Transcript: ENSMUST00000093039
AA Change: N326S

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000090726
Gene: ENSMUSG00000038697
AA Change: N326S

Domain	Start	End	E-Value	Type
Pfam:TFIID_NTD2	61	195	8.4e-35	PFAM
WD40	257	296	6.66e-1	SMART
WD40	331	370	3.19e-7	SMART
WD40	373	412	5.95e-7	SMART
WD40	415	454	2.2e-10	SMART
WD40	457	496	1.2e-11	SMART
WD40	499	538	5.3e-13	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000127664

SMART Domains

Protein: ENSMUSP00000118564
Gene: ENSMUSG00000092329

Domain	Start	End	E-Value	Type
Pfam:Glycos_transf_2	104	287	7.4e-31	PFAM
Pfam:Glyco_transf_7C	261	331	4.9e-8	PFAM
RICIN	406	531	9.28e-27	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000165628
AA Change: N326S

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000128710
Gene: ENSMUSG00000038697
AA Change: N326S

Domain	Start	End	E-Value	Type
Pfam:TFIID_90kDa	55	196	1.2e-43	PFAM
WD40	257	296	6.66e-1	SMART
WD40	331	370	3.19e-7	SMART
WD40	373	412	5.95e-7	SMART
WD40	415	454	2.2e-10	SMART
WD40	457	496	1.2e-11	SMART
WD40	499	538	5.3e-13	SMART

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.2%

Validation Efficiency

100% (55/55)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The product of this gene belongs to the WD-repeat TAF5 family of proteins. This gene encodes a protein that is a component of the PCAF histone acetylase complex. The PCAF histone acetylase complex, which is composed of more than 20 polypeptides some of which are TAFs, is required for myogenic transcription and differentiation. TAFs may participate in basal transcription, serve as coactivators, function in promoter recognition or modify general transcription factors to facilitate complex assembly and transcription initiation. The encoded protein is structurally similar to one of the histone-like TAFs, TAF5. Alternatively spliced transcript variants encoding different isoforms have been identified for this gene. [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310034C09Rik	T	C	16: 88,556,151 (GRCm39)	Y122H	probably damaging	Het
Abhd14b	T	A	9: 106,327,240 (GRCm39)	H7Q	probably benign	Het
Acod1	C	T	14: 103,286,780 (GRCm39)	R28W	possibly damaging	Het
Agap2	A	G	10: 126,924,194 (GRCm39)	T803A	unknown	Het
Angptl7	T	C	4: 148,581,741 (GRCm39)	E215G	probably damaging	Het
Ankrd34c	T	A	9: 89,611,951 (GRCm39)	D130V	probably damaging	Het
BC028528	A	G	3: 95,792,298 (GRCm39)	V144A	probably benign	Het
Cab39l	T	C	14: 59,776,640 (GRCm39)	F274L	probably damaging	Het
Cdsn	T	C	17: 35,866,415 (GRCm39)	S315P	possibly damaging	Het
Celsr3	CGGGG	CGGGGG	9: 108,718,471 (GRCm39)		probably null	Het
Cep97	A	T	16: 55,735,394 (GRCm39)	L540*	probably null	Het
Chrna2	G	T	14: 66,387,017 (GRCm39)	E388*	probably null	Het
Ckap4	A	G	10: 84,364,460 (GRCm39)	V201A	probably damaging	Het
Clec4b1	A	G	6: 123,042,922 (GRCm39)	K47R	probably benign	Het
Clvs2	A	T	10: 33,404,484 (GRCm39)	I244N	possibly damaging	Het
Cmtr1	G	A	17: 29,893,151 (GRCm39)	E57K	probably benign	Het
Cxxc1	T	A	18: 74,353,910 (GRCm39)	D565E	possibly damaging	Het
Dtx3l	T	A	16: 35,754,073 (GRCm39)	M178L	probably benign	Het
Eml2	A	G	7: 18,930,161 (GRCm39)	D294G	possibly damaging	Het
Flt3	A	G	5: 147,269,698 (GRCm39)		probably null	Het
Frs3	T	A	17: 48,014,777 (GRCm39)	L490Q	probably damaging	Het
Gm6882	G	A	7: 21,161,559 (GRCm39)	T103I	possibly damaging	Het
Gsdmd	C	T	15: 75,736,270 (GRCm39)	T133I	probably benign	Het
Hhipl2	C	A	1: 183,209,540 (GRCm39)	C331*	probably null	Het
Ifnar1	C	A	16: 91,302,224 (GRCm39)	D566E	possibly damaging	Het
Ighv1-34	A	T	12: 114,814,939 (GRCm39)	N74K	probably benign	Het
Itk	T	C	11: 46,233,222 (GRCm39)		probably null	Het
Kdm7a	T	C	6: 39,122,461 (GRCm39)	D801G	probably benign	Het
Marchf1	T	C	8: 66,871,641 (GRCm39)	L139P	probably damaging	Het
Metap1d	T	C	2: 71,345,982 (GRCm39)	V181A	probably damaging	Het
Mfsd8	G	A	3: 40,789,628 (GRCm39)	R140C	probably damaging	Het
Mrps25	T	C	6: 92,152,745 (GRCm39)	T92A	probably benign	Het
Mucl3	T	C	17: 35,948,486 (GRCm39)	H371R	possibly damaging	Het
Ntng2	C	A	2: 29,138,050 (GRCm39)	M1I	probably null	Het
Or51b17	C	T	7: 103,542,256 (GRCm39)	G229R	probably benign	Het
Or51q1	A	C	7: 103,628,581 (GRCm39)	M61L	probably damaging	Het
Or8b57	T	C	9: 40,003,695 (GRCm39)	K189R	probably benign	Het
Pla2g12a	A	G	3: 129,672,465 (GRCm39)	D33G	probably damaging	Het
Prlhr	A	G	19: 60,456,284 (GRCm39)	V94A	possibly damaging	Het
Ralgapb	T	A	2: 158,292,192 (GRCm39)	S793T	probably benign	Het
Rapgef6	T	A	11: 54,522,127 (GRCm39)	L455*	probably null	Het
Sbf2	T	C	7: 110,040,669 (GRCm39)	H386R	probably benign	Het
Sec23ip	C	A	7: 128,365,749 (GRCm39)	N539K	probably damaging	Het
Shisa4	A	G	1: 135,300,907 (GRCm39)	L121P	probably damaging	Het
Slc28a2b	C	T	2: 122,355,617 (GRCm39)	T603I	probably benign	Het
Stard9	T	A	2: 120,510,306 (GRCm39)	F296I	probably damaging	Het
Strn3	T	C	12: 51,707,955 (GRCm39)	K147E	probably damaging	Het
Tfb2m	T	A	1: 179,369,914 (GRCm39)	I170L	probably benign	Het
Tfec	T	C	6: 16,845,422 (GRCm39)	N79S	possibly damaging	Het
Tnn	C	T	1: 159,946,053 (GRCm39)	G922R	probably damaging	Het
Tox3	T	C	8: 91,074,507 (GRCm39)	Y24C	probably damaging	Het
Vmn2r6	A	T	3: 64,463,526 (GRCm39)	L436*	probably null	Het
Vmn2r80	A	G	10: 78,984,707 (GRCm39)	I20V	probably benign	Het
Wdr97	T	C	15: 76,245,684 (GRCm39)	V1307A		Het

Other mutations in Taf5l

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02850:Taf5l	APN	8	124,730,197 (GRCm39)	missense	possibly damaging	0.94
IGL03371:Taf5l	APN	8	124,724,725 (GRCm39)	missense	possibly damaging	0.52
Invalid	UTSW	8	124,729,714 (GRCm39)	critical splice donor site	probably null
R0017:Taf5l	UTSW	8	124,730,383 (GRCm39)	missense	probably damaging	1.00
R1708:Taf5l	UTSW	8	124,736,509 (GRCm39)	nonsense	probably null
R1813:Taf5l	UTSW	8	124,730,152 (GRCm39)	missense	probably damaging	1.00
R1861:Taf5l	UTSW	8	124,724,729 (GRCm39)	missense	probably damaging	1.00
R1896:Taf5l	UTSW	8	124,730,152 (GRCm39)	missense	probably damaging	1.00
R4570:Taf5l	UTSW	8	124,724,289 (GRCm39)	missense	probably damaging	1.00
R4656:Taf5l	UTSW	8	124,724,844 (GRCm39)	missense	probably benign
R5294:Taf5l	UTSW	8	124,734,957 (GRCm39)	missense	probably benign	0.11
R5335:Taf5l	UTSW	8	124,730,390 (GRCm39)	missense	probably damaging	1.00
R5480:Taf5l	UTSW	8	124,736,559 (GRCm39)	missense	possibly damaging	0.78
R5905:Taf5l	UTSW	8	124,729,714 (GRCm39)	critical splice donor site	probably null
R6028:Taf5l	UTSW	8	124,729,714 (GRCm39)	critical splice donor site	probably null
R7105:Taf5l	UTSW	8	124,729,951 (GRCm39)	missense	probably damaging	1.00
R8304:Taf5l	UTSW	8	124,730,251 (GRCm39)	missense	probably benign	0.03
R8881:Taf5l	UTSW	8	124,730,101 (GRCm39)	missense	possibly damaging	0.51
R9128:Taf5l	UTSW	8	124,730,014 (GRCm39)	missense	probably benign
R9600:Taf5l	UTSW	8	124,730,173 (GRCm39)	missense
X0024:Taf5l	UTSW	8	124,724,760 (GRCm39)	missense	probably benign	0.04
Z1088:Taf5l	UTSW	8	124,724,077 (GRCm39)	nonsense	probably null
Z1176:Taf5l	UTSW	8	124,724,101 (GRCm39)	missense	probably benign	0.06
Z1177:Taf5l	UTSW	8	124,729,738 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TCCACTGGCAAAGTACAGGC -3'
(R):5'- TATGGTTGGGCACTGTCAGC -3'

Sequencing Primer
(F):5'- AGGGTAGGCATGTCCCTGATAC -3'
(R):5'- CAGCTGGTTGGCCATGAAG -3'

Posted On

2020-09-02