Mutagenetix > Incidental Mutation

Incidental Mutation 'R7105:Taf5l'

551118

Institutional Source

Beutler Lab

Gene Symbol

Taf5l

Ensembl Gene

ENSMUSG00000038697

Gene Name

TATA-box binding protein associated factor 5 like

Synonyms

1110005N04Rik

MMRRC Submission

045197-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.960) question?

Stock #

R7105 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

124723057-124748136 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 124729951 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 246 (I246T)

Ref Sequence

ENSEMBL: ENSMUSP00000090726 (fasta)

Gene Model

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

AlphaFold

Q91WQ5

Predicted Effect

probably damaging
Transcript: ENSMUST00000093039
AA Change: I246T

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000090726
Gene: ENSMUSG00000038697
AA Change: I246T

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 damaging
Transcript: ENSMUST00000165628
AA Change: I246T

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000128710
Gene: ENSMUSG00000038697
AA Change: I246T

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

probably benign
Transcript: ENSMUST00000212010

Meta Mutation Damage Score

0.1906

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 98.9%

Validation Efficiency

96% (65/68)

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
Abca13	T	A	11: 9,347,842 (GRCm39)	I3565N	probably damaging	Het
Adam8	T	C	7: 139,569,968 (GRCm39)	E99G	probably benign	Het
Adnp2	A	C	18: 80,171,366 (GRCm39)	H1014Q	possibly damaging	Het
Agbl4	T	A	4: 111,423,920 (GRCm39)	N315K	probably benign	Het
Ankrd33b	G	T	15: 31,305,214 (GRCm39)	N183K	probably damaging	Het
Arhgef39	A	G	4: 43,498,913 (GRCm39)	S113P	possibly damaging	Het
Bdp1	G	A	13: 100,206,689 (GRCm39)	P618S	probably damaging	Het
Bhlhe40	C	T	6: 108,641,997 (GRCm39)	P314S	possibly damaging	Het
Birc2	A	C	9: 7,819,442 (GRCm39)	I490S	probably damaging	Het
Blm	T	C	7: 80,149,516 (GRCm39)	I698V	probably benign	Het
C4b	G	A	17: 34,949,885 (GRCm39)	T1433M	possibly damaging	Het
Car12	A	G	9: 66,659,688 (GRCm39)	T238A	probably damaging	Het
Cend1	G	A	7: 141,007,565 (GRCm39)	P85L	probably benign	Het
Cftr	A	T	6: 18,318,971 (GRCm39)	D1337V	probably damaging	Het
Chsy3	T	A	18: 59,309,491 (GRCm39)	M248K	probably damaging	Het
Chtf8	A	G	8: 107,611,883 (GRCm39)	F352S	probably damaging	Het
Cimip4	T	A	15: 78,270,318 (GRCm39)	D150V	possibly damaging	Het
Csf2ra	T	C	19: 61,213,458 (GRCm39)	D384G	possibly damaging	Het
Ctnnbip1	T	C	4: 149,630,937 (GRCm39)	S59P	probably benign	Het
Cyth3	A	G	5: 143,693,027 (GRCm39)	N312D	probably benign	Het
Dtnb	T	C	12: 3,698,391 (GRCm39)		probably null	Het
Duox2	A	G	2: 122,120,033 (GRCm39)	S826P	possibly damaging	Het
Enthd1	C	T	15: 80,393,410 (GRCm39)	A273T	probably benign	Het
Gm3138	T	C	14: 15,632,304 (GRCm39)	V159A	possibly damaging	Het
Hhip	T	C	8: 80,701,638 (GRCm39)	D632G	probably benign	Het
Igfn1	A	T	1: 135,911,956 (GRCm39)	C114S	probably benign	Het
Islr2	T	C	9: 58,105,097 (GRCm39)	D765G	probably damaging	Het
Klf14	TCCCC	TCCC	6: 30,935,476 (GRCm39)		probably null	Het
Mapk12	G	A	15: 89,015,361 (GRCm39)	P362L	probably benign	Het
Msi1	T	G	5: 115,571,929 (GRCm39)	F96V	probably damaging	Het
Mthfd1l	T	C	10: 4,053,261 (GRCm39)	V870A	probably benign	Het
Nfat5	T	C	8: 108,095,823 (GRCm39)	S1355P	possibly damaging	Het
Oplah	T	C	15: 76,181,887 (GRCm39)	N1079D	probably damaging	Het
Or2ah1	G	T	2: 85,654,224 (GRCm39)	R303M	probably benign	Het
Osbpl1a	T	A	18: 12,900,020 (GRCm39)	I645F	probably benign	Het
Pank4	T	C	4: 155,064,624 (GRCm39)	S728P	probably benign	Het
Parp2	TTGCCATAAGTGCTAAATGAAGCC	T	14: 51,047,521 (GRCm39)		probably null	Het
Piezo1	A	G	8: 123,208,857 (GRCm39)	I2503T	unknown	Het
Plekhg6	A	G	6: 125,355,768 (GRCm39)	L12P	probably damaging	Het
Plekhs1	T	A	19: 56,465,647 (GRCm39)	F204Y	probably damaging	Het
Pramel26	T	C	4: 143,537,341 (GRCm39)	N330S	probably benign	Het
Pramel32	G	A	4: 88,548,339 (GRCm39)	S22F	probably damaging	Het
Prep	T	A	10: 45,002,159 (GRCm39)	I438N	probably benign	Het
Prss58	T	C	6: 40,874,700 (GRCm39)	H47R	probably damaging	Het
Rad51ap2	T	G	12: 11,508,278 (GRCm39)	D733E	possibly damaging	Het
Robo1	A	T	16: 72,539,049 (GRCm39)	I31F	probably damaging	Het
Setd2	A	G	9: 110,377,328 (GRCm39)	Y381C	probably damaging	Het
Slc47a2	A	G	11: 61,233,269 (GRCm39)	V87A	probably benign	Het
Slc5a9	T	C	4: 111,755,892 (GRCm39)	N2S	probably benign	Het
Spata13	A	G	14: 60,991,319 (GRCm39)	D1024G	probably damaging	Het
Stat1	T	G	1: 52,190,408 (GRCm39)	N554K	probably benign	Het
Suclg2	T	C	6: 95,572,635 (GRCm39)	D110G	possibly damaging	Het
Sult1c2	T	A	17: 54,280,917 (GRCm39)		probably null	Het
Tcof1	A	T	18: 60,976,368 (GRCm39)	D80E	probably damaging	Het
Tmem233	T	C	5: 116,221,057 (GRCm39)	Y63C	probably damaging	Het
Tshz3	A	G	7: 36,469,181 (GRCm39)	E390G	probably damaging	Het
Ttn	T	C	2: 76,560,610 (GRCm39)	T29264A	possibly damaging	Het
Ubr5	T	C	15: 38,009,019 (GRCm39)	T1065A		Het
Vcp	A	G	4: 42,985,991 (GRCm39)	V341A	probably damaging	Het
Vmn1r176	A	T	7: 23,534,748 (GRCm39)	L135*	probably null	Het
Vmn1r57	T	A	7: 5,223,499 (GRCm39)	I8N	probably damaging	Het
Ythdc2	C	T	18: 44,967,630 (GRCm39)	P209S	probably damaging	Het
Zfp213	A	T	17: 23,777,178 (GRCm39)	V288D	probably benign	Het
Zfp362	T	C	4: 128,668,319 (GRCm39)	I418V	probably damaging	Het
Zfp707	C	A	15: 75,846,595 (GRCm39)	T215K		Het
Zfp957	G	C	14: 79,450,402 (GRCm39)	R466G	probably benign	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
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'- TGTCACAAGCTAGACGGATCC -3'
(R):5'- GACAACAACACTGCCCTGTG -3'

Sequencing Primer
(F):5'- CTAGACGGATCCGGGATGTGTC -3'
(R):5'- GCCCTGTGCAAAGTGCTTG -3'

Posted On

2019-05-15