Mutagenetix > Incidental Mutation

Incidental Mutation 'R1813:Taf5l'

202560

Institutional Source

Beutler Lab

Gene Symbol

Taf5l

Ensembl Gene

ENSMUSG00000038697

Gene Name

TATA-box binding protein associated factor 5 like

Synonyms

1110005N04Rik

MMRRC Submission

039841-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.960) question?

Stock #

R1813 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

124723057-124748136 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 124730152 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 144 (L144P)

Ref Sequence

ENSEMBL: ENSMUSP00000148808 (fasta)

Gene Model

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

AlphaFold

Q91WQ5

Predicted Effect

probably damaging
Transcript: ENSMUST00000093039
AA Change: L179P

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

SMART Domains

Protein: ENSMUSP00000090726
Gene: ENSMUSG00000038697
AA Change: L179P

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: L179P

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

SMART Domains

Protein: ENSMUSP00000128710
Gene: ENSMUSG00000038697
AA Change: L179P

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 damaging
Transcript: ENSMUST00000212010
AA Change: L144P

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

Meta Mutation Damage Score

0.9195

Coding Region Coverage

1x: 97.5%
3x: 96.8%
10x: 94.8%
20x: 90.3%

Validation Efficiency

96% (79/82)

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: 74 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A2ml1	T	A	6: 128,543,236 (GRCm39)	N595Y	probably benign	Het
Abca6	A	G	11: 110,124,671 (GRCm39)		probably benign	Het
Abo	C	A	2: 26,733,609 (GRCm39)	D199Y	probably damaging	Het
Acvr1c	A	C	2: 58,170,306 (GRCm39)	V277G	probably damaging	Het
Adam23	G	A	1: 63,584,731 (GRCm39)	A380T	probably benign	Het
Art2b	A	G	7: 101,229,236 (GRCm39)	V221A	probably benign	Het
Bcam	A	G	7: 19,500,640 (GRCm39)	S153P	probably damaging	Het
Brip1	T	C	11: 86,077,906 (GRCm39)	H174R	possibly damaging	Het
Ccdc186	T	C	19: 56,788,601 (GRCm39)	D536G	probably benign	Het
Cd109	A	G	9: 78,524,287 (GRCm39)	N67S	probably benign	Het
Cd8a	G	T	6: 71,350,947 (GRCm39)	M137I	possibly damaging	Het
Ces2g	T	C	8: 105,693,569 (GRCm39)	F417L	probably benign	Het
Clec2g	A	G	6: 128,925,660 (GRCm39)	N23S	unknown	Het
Cntnap2	T	C	6: 46,507,567 (GRCm39)	Y61C	probably damaging	Het
Cog3	T	A	14: 75,979,784 (GRCm39)	E182D	probably benign	Het
Dbpht2	A	G	12: 74,342,624 (GRCm39)		noncoding transcript	Het
Dock4	A	T	12: 40,686,227 (GRCm39)	N154I	probably damaging	Het
Dysf	T	G	6: 84,128,906 (GRCm39)	V1422G	possibly damaging	Het
E2f3	T	C	13: 30,104,159 (GRCm39)	D140G	probably damaging	Het
Efcab3	A	G	11: 104,611,514 (GRCm39)	K452R	probably benign	Het
Epb41l2	T	A	10: 25,317,466 (GRCm39)		probably null	Het
Epha2	A	G	4: 141,035,857 (GRCm39)	K98E	possibly damaging	Het
Esyt1	T	C	10: 128,355,487 (GRCm39)	D444G	probably benign	Het
Fam163a	T	C	1: 155,955,787 (GRCm39)	T2A	probably damaging	Het
Foxp2	A	T	6: 15,379,767 (GRCm39)		probably benign	Het
Gcm2	T	C	13: 41,259,367 (GRCm39)	H34R	probably benign	Het
Gipr	A	G	7: 18,897,996 (GRCm39)	S79P	probably benign	Het
Gli3	T	C	13: 15,823,276 (GRCm39)	S333P	probably damaging	Het
Gm10717	T	G	9: 3,026,317 (GRCm39)	F205C	probably damaging	Het
Gzmk	A	G	13: 113,309,427 (GRCm39)	S208P	probably damaging	Het
Htra2	G	T	6: 83,028,583 (GRCm39)	A318D	probably damaging	Het
Itpkc	T	C	7: 26,907,805 (GRCm39)	D633G	probably damaging	Het
Lama1	G	A	17: 68,098,218 (GRCm39)	R1805H	probably benign	Het
Lama4	T	A	10: 38,909,121 (GRCm39)		probably benign	Het
Lama4	T	C	10: 38,936,182 (GRCm39)	V619A	probably damaging	Het
Notch3	T	C	17: 32,362,402 (GRCm39)	T1408A	probably benign	Het
Nwd2	A	G	5: 63,962,753 (GRCm39)	D779G	probably benign	Het
Nxpe4	A	G	9: 48,304,678 (GRCm39)	Y255C	possibly damaging	Het
Obox6	A	T	7: 15,568,770 (GRCm39)	H35Q	possibly damaging	Het
Or2ab1	A	G	11: 58,489,133 (GRCm39)	I304V	probably damaging	Het
Or8b41	T	A	9: 38,055,025 (GRCm39)	I198N	possibly damaging	Het
Pkig	T	A	2: 163,563,147 (GRCm39)	I26N	possibly damaging	Het
Plekhm2	C	T	4: 141,369,750 (GRCm39)	V82M	possibly damaging	Het
Plppr2	G	A	9: 21,859,220 (GRCm39)	A446T	probably damaging	Het
Psme4	T	A	11: 30,754,353 (GRCm39)	F203L	probably benign	Het
Sh3bp1	A	G	15: 78,787,880 (GRCm39)	K137E	probably damaging	Het
Shisa5	T	A	9: 108,885,108 (GRCm39)	I126N	probably damaging	Het
Slc11a1	T	C	1: 74,414,931 (GRCm39)	L21P	probably benign	Het
Slc35f1	C	T	10: 52,809,291 (GRCm39)	P93S	probably damaging	Het
Slc4a4	A	G	5: 89,194,167 (GRCm39)	T172A	probably damaging	Het
Slc9c1	A	T	16: 45,393,710 (GRCm39)	Y551F	probably benign	Het
Spata31	T	C	13: 65,069,612 (GRCm39)	S587P	probably benign	Het
Syna	C	A	5: 134,588,006 (GRCm39)	M314I	probably benign	Het
Tbccd1	T	C	16: 22,641,271 (GRCm39)	T369A	probably benign	Het
Tnfrsf11b	A	T	15: 54,119,493 (GRCm39)	C160*	probably null	Het
Trim45	A	G	3: 100,830,283 (GRCm39)	N19S	probably benign	Het
Uba2	A	G	7: 33,850,455 (GRCm39)	F364S	probably damaging	Het
Unc50	T	A	1: 37,476,323 (GRCm39)	L161Q	probably damaging	Het
Uso1	A	T	5: 92,348,992 (GRCm39)		probably null	Het
Usp25	A	G	16: 76,911,838 (GRCm39)	I956V	probably benign	Het
Utf1	C	A	7: 139,524,213 (GRCm39)	L143I	probably damaging	Het
Vmn1r158	C	T	7: 22,490,143 (GRCm39)	C22Y	probably damaging	Het
Vmn1r36	T	A	6: 66,693,756 (GRCm39)	M40L	probably benign	Het
Vmn2r43	A	G	7: 8,258,055 (GRCm39)	V386A	possibly damaging	Het
Vps9d1	C	A	8: 123,973,778 (GRCm39)	R335L	probably damaging	Het
Wasf1	T	A	10: 40,802,585 (GRCm39)	V80D	probably damaging	Het
Wdr72	G	A	9: 74,183,298 (GRCm39)	V1077I	possibly damaging	Het
Wnt8a	A	G	18: 34,675,422 (GRCm39)	M1V	probably null	Het
Zbtb26	A	G	2: 37,326,347 (GRCm39)	S230P	possibly damaging	Het
Zfp335	A	G	2: 164,734,525 (GRCm39)	V1247A	probably damaging	Het
Zfp429	T	C	13: 67,538,505 (GRCm39)	N313S	possibly damaging	Het
Zfp74	A	T	7: 29,634,569 (GRCm39)	C380S	probably damaging	Het
Zfyve21	G	A	12: 111,791,328 (GRCm39)	E134K	probably damaging	Het
Zmynd11	T	C	13: 9,739,616 (GRCm39)	T474A	possibly 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
R1708:Taf5l	UTSW	8	124,736,509 (GRCm39)	nonsense	probably null
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'- ATCCTTGACCCGCTTGATAC -3'
(R):5'- CTTCTATAGCCGCTTCCATGGG -3'

Sequencing Primer
(F):5'- GATACTCTCCTGCAAGACTTCCAGG -3'
(R):5'- CCATGGGATGTTCCTGCAGAATG -3'

Posted On

2014-06-23