Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02179:Taf8'

283234

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Taf8

Ensembl Gene

ENSMUSG00000023980

Gene Name

TATA-box binding protein associated factor 8

Synonyms

Taf8, Tbn

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL02179

Quality Score

Status

Chromosome

Chromosomal Location

47794289-47813216 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 47813158 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 13 (T13A)

Ref Sequence

ENSEMBL: ENSMUSP00000063201 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000037333] [ENSMUST00000067103] [ENSMUST00000171031] [ENSMUST00000182129] [ENSMUST00000182506] [ENSMUST00000183210] [ENSMUST00000183177] [ENSMUST00000182848] [ENSMUST00000182935] [ENSMUST00000183044]

AlphaFold

Q9EQH4

Predicted Effect

probably benign
Transcript: ENSMUST00000037333

SMART Domains

Protein: ENSMUSP00000040488
Gene: ENSMUSG00000034165

Domain	Start	End	E-Value	Type
CYCLIN	62	146	1.12e-17	SMART
Cyclin_C	155	280	3.49e-16	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000067103
AA Change: T13A

PolyPhen 2 Score 0.097 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000063201
Gene: ENSMUSG00000023980
AA Change: T13A

Domain	Start	End	E-Value	Type
BTP	27	104	1.76e-32	SMART
Pfam:TAF8_C	143	191	8.1e-24	PFAM
low complexity region	236	250	N/A	INTRINSIC
low complexity region	267	286	N/A	INTRINSIC
low complexity region	294	305	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000171031

SMART Domains

Protein: ENSMUSP00000126141
Gene: ENSMUSG00000034165

Domain	Start	End	E-Value	Type
CYCLIN	62	146	1.12e-17	SMART
Cyclin_C	155	280	3.49e-16	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000182060

Predicted Effect

probably benign
Transcript: ENSMUST00000182129

SMART Domains

Protein: ENSMUSP00000138486
Gene: ENSMUSG00000034165

Domain	Start	End	E-Value	Type
CYCLIN	62	146	1.12e-17	SMART
Pfam:Cyclin_C	155	214	2.6e-12	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000182506

SMART Domains

Protein: ENSMUSP00000138180
Gene: ENSMUSG00000034165

Domain	Start	End	E-Value	Type
CYCLIN	62	146	1.12e-17	SMART
Cyclin_C	155	251	2.02e-3	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000182591

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000183014

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000183061

Predicted Effect

probably benign
Transcript: ENSMUST00000183210

Predicted Effect

probably benign
Transcript: ENSMUST00000183177

SMART Domains

Protein: ENSMUSP00000138640
Gene: ENSMUSG00000034165

Domain	Start	End	E-Value	Type
CYCLIN	62	146	1.12e-17	SMART
Cyclin_C	155	280	3.49e-16	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000182848

SMART Domains

Protein: ENSMUSP00000138715
Gene: ENSMUSG00000034165

Domain	Start	End	E-Value	Type
CYCLIN	62	146	1.12e-17	SMART
Pfam:Cyclin_C	155	243	8.1e-17	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000182935

Predicted Effect

probably benign
Transcript: ENSMUST00000183044

SMART Domains

Protein: ENSMUSP00000138220
Gene: ENSMUSG00000034165

Domain	Start	End	E-Value	Type
CYCLIN	62	146	1.12e-17	SMART
Cyclin_C	155	280	3.49e-16	SMART

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes one of several TATA-binding protein (TBP)-associated factors (TAFs), which are integral subunits of the general transcription factor complex TFIID. TFIID recognizes the core promoter of many genes and nucleates the assembly of a transcription preinitiation complex containing RNA polymerase II and other initiation factors. The protein encoded by this gene contains an H4-like histone fold domain, and interacts with several subunits of TFIID including TBP and the histone-fold protein TAF10. Alternatively spliced transcript variants have been described, but their biological validity has not been determined. [provided by RefSeq, Jul 2008]
PHENOTYPE: Embryos homozygous for a gene trap mutation die at E4.0 and exhibit apoptosis of inner mass cells. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 37 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abl1	C	A	2: 31,682,261 (GRCm39)	A385D	probably damaging	Het
Ace	A	G	11: 105,860,615 (GRCm39)	D174G	probably benign	Het
Aldh1l2	A	G	10: 83,358,701 (GRCm39)	V98A	probably benign	Het
AU040320	T	A	4: 126,729,405 (GRCm39)	F522L	probably benign	Het
Ccdc73	A	G	2: 104,737,913 (GRCm39)	D3G	probably damaging	Het
Cdk14	A	C	5: 5,153,845 (GRCm39)	L199V	probably damaging	Het
Cdk15	G	T	1: 59,370,100 (GRCm39)	A381S	possibly damaging	Het
Cyb5a	A	G	18: 84,891,280 (GRCm39)	I68V	probably benign	Het
Dock5	G	A	14: 68,043,945 (GRCm39)		probably benign	Het
Fbxw24	T	A	9: 109,438,973 (GRCm39)	K201*	probably null	Het
Gm5852	C	T	3: 93,635,023 (GRCm39)		noncoding transcript	Het
Gsdma3	A	G	11: 98,526,097 (GRCm39)	K274E	possibly damaging	Het
Hoxa7	T	A	6: 52,192,854 (GRCm39)	Q178L	probably damaging	Het
Itgae	G	T	11: 73,024,844 (GRCm39)	V992L	probably benign	Het
Klk1b26	A	G	7: 43,665,736 (GRCm39)	N183D	probably benign	Het
Krt39	A	T	11: 99,411,667 (GRCm39)	S140T	probably damaging	Het
Lama2	G	A	10: 26,946,360 (GRCm39)	T1953I	probably benign	Het
Mmp1a	G	A	9: 7,464,273 (GRCm39)	R26Q	probably benign	Het
Myh7b	A	C	2: 155,456,411 (GRCm39)	I175L	probably benign	Het
Nol11	A	G	11: 107,080,082 (GRCm39)	M1T	probably null	Het
Nrxn1	T	A	17: 90,937,511 (GRCm39)	I641F	probably damaging	Het
Or51ag1	A	C	7: 103,155,934 (GRCm39)	L73R	probably damaging	Het
Or8k3	A	T	2: 86,058,591 (GRCm39)	C241*	probably null	Het
Or9i2	T	C	19: 13,815,851 (GRCm39)	T229A	probably benign	Het
Parn	G	T	16: 13,485,456 (GRCm39)	H13Q	probably benign	Het
Pcnx1	T	C	12: 81,980,493 (GRCm39)		probably benign	Het
Pdcd10	T	C	3: 75,434,922 (GRCm39)	D60G	probably damaging	Het
Phka2	G	A	X: 159,337,376 (GRCm39)		probably null	Het
Ppargc1a	A	T	5: 51,631,053 (GRCm39)	D525E	possibly damaging	Het
Rad54l2	C	A	9: 106,597,589 (GRCm39)	R139L	probably damaging	Het
Rnf20	T	C	4: 49,638,712 (GRCm39)	V178A	probably benign	Het
Ror2	C	T	13: 53,264,764 (GRCm39)	S764N	probably damaging	Het
Sdccag8	C	T	1: 176,705,622 (GRCm39)	H479Y	probably benign	Het
Ttc8	T	C	12: 98,930,796 (GRCm39)	L270P	possibly damaging	Het
Ttn	G	A	2: 76,717,712 (GRCm39)	Q365*	probably null	Het
Uchl1	A	G	5: 66,833,637 (GRCm39)	Q2R	probably benign	Het
Ufl1	A	G	4: 25,254,896 (GRCm39)	V440A	probably damaging	Het

Other mutations in Taf8

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02862:Taf8	APN	17	47,805,339 (GRCm39)	missense	probably damaging	1.00
IGL03068:Taf8	APN	17	47,812,290 (GRCm39)	missense	probably damaging	1.00
IGL03197:Taf8	APN	17	47,809,127 (GRCm39)	missense	probably benign	0.05
R0153:Taf8	UTSW	17	47,809,177 (GRCm39)	splice site	probably benign
R0344:Taf8	UTSW	17	47,804,505 (GRCm39)	missense	probably benign	0.03
R1782:Taf8	UTSW	17	47,809,136 (GRCm39)	missense	probably benign	0.13
R2046:Taf8	UTSW	17	47,801,201 (GRCm39)	missense	probably benign
R5536:Taf8	UTSW	17	47,805,407 (GRCm39)	missense	possibly damaging	0.89
R5956:Taf8	UTSW	17	47,809,467 (GRCm39)	missense	probably damaging	1.00
R9016:Taf8	UTSW	17	47,807,527 (GRCm39)	missense	probably damaging	1.00
R9679:Taf8	UTSW	17	47,801,101 (GRCm39)	missense	unknown
X0065:Taf8	UTSW	17	47,812,321 (GRCm39)	missense	probably benign	0.00

Posted On

2015-04-16