Mutagenetix > Incidental Mutation

Incidental Mutation 'R1708:Taf5l'

190233

Institutional Source

Beutler Lab

Gene Symbol

Taf5l

Ensembl Gene

ENSMUSG00000038697

Gene Name

TATA-box binding protein associated factor 5 like

Synonyms

1110005N04Rik

MMRRC Submission

039741-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.962) question?

Stock #

R1708 (G1)

Quality Score

188

Status

Not validated

Chromosome

Chromosomal Location

124723057-124748136 bp(-) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

G to A at 124736509 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Stop codon at position 21 (Q21*)

Ref Sequence

ENSEMBL: ENSMUSP00000148808 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000093039] [ENSMUST00000127664] [ENSMUST00000165628] [ENSMUST00000212010]

AlphaFold

Q91WQ5

Predicted Effect

probably null
Transcript: ENSMUST00000093039
AA Change: Q21*

SMART Domains

Protein: ENSMUSP00000090726
Gene: ENSMUSG00000038697
AA Change: Q21*

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 null
Transcript: ENSMUST00000165628
AA Change: Q21*

SMART Domains

Protein: ENSMUSP00000128710
Gene: ENSMUSG00000038697
AA Change: Q21*

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000211825

Predicted Effect

probably null
Transcript: ENSMUST00000212010
AA Change: Q21*

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000213055

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.8%
20x: 94.1%

Validation Efficiency

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: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1810009J06Rik	A	T	6: 40,941,732 (GRCm39)	I4F	probably benign	Het
Aadacl4fm1	T	C	4: 144,246,511 (GRCm39)	V19A	probably benign	Het
Abca8a	A	T	11: 109,943,928 (GRCm39)	S1114T	probably damaging	Het
Adgre1	A	T	17: 57,708,974 (GRCm39)	Y55F	possibly damaging	Het
Alb	A	C	5: 90,611,910 (GRCm39)	D113A	possibly damaging	Het
Ankrd33b	C	T	15: 31,305,155 (GRCm39)	R203Q	probably damaging	Het
Aqp6	T	C	15: 99,500,543 (GRCm39)	V156A	possibly damaging	Het
AU018091	T	C	7: 3,206,184 (GRCm39)	S616G	probably damaging	Het
Cfd	T	A	10: 79,727,441 (GRCm39)	D68E	probably benign	Het
Cntn2	C	T	1: 132,446,936 (GRCm39)	A725T	probably damaging	Het
Copg2	A	C	6: 30,801,312 (GRCm39)	D373E	probably damaging	Het
Cyp2d11	T	C	15: 82,274,633 (GRCm39)	T315A	probably benign	Het
Cyp2j13	G	T	4: 95,950,304 (GRCm39)	N232K	probably damaging	Het
Cyp2j8	A	T	4: 96,387,832 (GRCm39)	F210I	probably damaging	Het
Dnah9	G	A	11: 65,805,980 (GRCm39)	T3373M	probably benign	Het
Eif2ak3	A	G	6: 70,864,790 (GRCm39)	K549E	probably damaging	Het
Epha3	C	T	16: 63,403,870 (GRCm39)	V744I	probably damaging	Het
Erich6	T	C	3: 58,523,868 (GRCm39)	S669G	probably benign	Het
Fam90a1a	A	T	8: 22,451,464 (GRCm39)	K108N	probably damaging	Het
Fat1	G	A	8: 45,477,829 (GRCm39)	V2292M	probably damaging	Het
Fibp	T	C	19: 5,513,822 (GRCm39)	C255R	probably null	Het
Fzd1	A	G	5: 4,805,791 (GRCm39)	V597A	possibly damaging	Het
Gm12790	G	A	4: 101,825,174 (GRCm39)	A80V	possibly damaging	Het
Gm2381	A	T	7: 42,469,649 (GRCm39)	N158K	probably benign	Het
Impg2	T	A	16: 56,085,441 (GRCm39)	D940E	probably benign	Het
Ints1	A	T	5: 139,748,594 (GRCm39)	V1071E	probably damaging	Het
Kat5	A	T	19: 5,659,507 (GRCm39)	Y44*	probably null	Het
Kif1c	C	T	11: 70,619,223 (GRCm39)	L953F	probably damaging	Het
Klra6	A	C	6: 129,999,677 (GRCm39)	L97*	probably null	Het
Ly6c2	C	T	15: 74,983,469 (GRCm39)		probably null	Het
Mon1a	G	A	9: 107,775,917 (GRCm39)	E12K	probably benign	Het
Myo3b	A	T	2: 70,075,729 (GRCm39)	K578*	probably null	Het
Myrip	A	T	9: 120,293,840 (GRCm39)	R778S	possibly damaging	Het
Ncoa4-ps	A	G	12: 119,225,968 (GRCm39)		noncoding transcript	Het
Or2w4	C	T	13: 21,795,240 (GRCm39)	A300T	probably damaging	Het
Or3a4	G	A	11: 73,944,814 (GRCm39)	T257I	probably damaging	Het
Or4c35	A	G	2: 89,808,382 (GRCm39)	R87G	probably benign	Het
Or52n4b	T	A	7: 108,143,781 (GRCm39)	F14L	probably benign	Het
Or5b121	T	C	19: 13,507,277 (GRCm39)	V80A	probably damaging	Het
Panx3	T	C	9: 37,572,687 (GRCm39)	I288V	probably benign	Het
Pcdh9	G	A	14: 94,125,741 (GRCm39)	P143L	probably damaging	Het
Pigc	T	A	1: 161,798,293 (GRCm39)	S92T	probably benign	Het
Pou3f2	C	A	4: 22,487,255 (GRCm39)	V293L	possibly damaging	Het
Rbm15	A	G	3: 107,238,536 (GRCm39)	S621P	probably damaging	Het
Rnf220	T	C	4: 117,347,083 (GRCm39)	S110G	probably benign	Het
Rnf38	A	T	4: 44,143,593 (GRCm39)	V115D	probably damaging	Het
Rps6ka2	A	G	17: 7,544,929 (GRCm39)	H347R	probably damaging	Het
Ryr2	T	C	13: 11,602,328 (GRCm39)		probably null	Het
Sema4f	G	T	6: 82,894,975 (GRCm39)	P407T	probably damaging	Het
Setbp1	T	C	18: 78,901,682 (GRCm39)	T662A	probably damaging	Het
Slc27a1	C	A	8: 72,037,274 (GRCm39)		probably null	Het
Slc41a2	T	A	10: 83,069,596 (GRCm39)	I519F	probably damaging	Het
Sntg2	C	T	12: 30,423,179 (GRCm39)	S17N	possibly damaging	Het
Sptb	A	G	12: 76,659,348 (GRCm39)	L1184P	probably damaging	Het
Tbc1d32	A	C	10: 56,027,865 (GRCm39)	S746A	possibly damaging	Het
Tdrd1	T	G	19: 56,830,721 (GRCm39)	S251R	probably benign	Het
Thap7	C	T	16: 17,346,814 (GRCm39)	R121Q	probably benign	Het
Tmem50a	A	G	4: 134,625,779 (GRCm39)	V146A	probably benign	Het
Tmprss15	T	C	16: 78,850,958 (GRCm39)	I327V	possibly damaging	Het
Tmt1a3	A	G	15: 100,233,150 (GRCm39)	N114D	probably damaging	Het
Ttc23	T	C	7: 67,316,924 (GRCm39)	I65T	probably damaging	Het
Vmn1r22	G	T	6: 57,877,481 (GRCm39)	H165Q	possibly damaging	Het
Vopp1	C	T	6: 57,739,497 (GRCm39)	R17H	probably damaging	Het
Vwa5a	A	G	9: 38,639,128 (GRCm39)	K337E	probably benign	Het
Wrap53	G	A	11: 69,454,761 (GRCm39)	R203*	probably null	Het
Zfp944	T	C	17: 22,558,026 (GRCm39)	Y407C	probably damaging	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
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
R8337:Taf5l	UTSW	8	124,724,841 (GRCm39)	missense	probably benign	0.00
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'- TAGCCTACCCTTTGCTGAGAACCC -3'
(R):5'- CAAGCACTGATAGTCCATGTGCTGG -3'

Sequencing Primer
(F):5'- TGATACCTGTGAGGTTGGCT -3'
(R):5'- TGCTGTTCTCCCCCAAAGAAG -3'

Posted On

2014-05-14