Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03068:Taf8'

409788

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 #

IGL03068

Quality Score

Status

Chromosome

Chromosomal Location

47794289-47813216 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 47812290 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Leucine at position 39 (V39L)

Ref Sequence

ENSEMBL: ENSMUSP00000063201 (fasta)

Gene Model

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

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 damaging
Transcript: ENSMUST00000067103
AA Change: V39L

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000063201
Gene: ENSMUSG00000023980
AA Change: V39L

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: ENSMUST00000183061

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000183014

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

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

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: 45 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ago3	A	G	4: 126,311,171 (GRCm39)	L14P	probably damaging	Het
Ak2	G	T	4: 128,901,819 (GRCm39)		probably benign	Het
Appbp2	T	C	11: 85,092,246 (GRCm39)	Y311C	probably damaging	Het
Arl9	C	A	5: 77,155,225 (GRCm39)	L119I	possibly damaging	Het
Atp1a1	T	C	3: 101,491,175 (GRCm39)	H620R	probably benign	Het
Cfap52	T	C	11: 67,826,682 (GRCm39)	D381G	probably benign	Het
Cngb3	T	C	4: 19,375,246 (GRCm39)	F292S	possibly damaging	Het
Comtd1	G	A	14: 21,897,711 (GRCm39)	R203C	probably damaging	Het
Crmp1	G	T	5: 37,422,633 (GRCm39)	A147S	possibly damaging	Het
Csmd3	T	A	15: 47,710,517 (GRCm39)	H1586L	possibly damaging	Het
Ctnna1	G	A	18: 35,382,785 (GRCm39)	E644K	possibly damaging	Het
Dock3	T	C	9: 106,841,958 (GRCm39)	D957G	possibly damaging	Het
Ear1	G	T	14: 44,056,502 (GRCm39)	S122*	probably null	Het
Eefsec	G	T	6: 88,235,209 (GRCm39)	Q576K	probably benign	Het
Efcab5	T	A	11: 76,994,927 (GRCm39)	I1215L	probably benign	Het
Etfa	A	T	9: 55,394,766 (GRCm39)	D160E	probably benign	Het
Exoc7	G	A	11: 116,191,960 (GRCm39)	R197C	possibly damaging	Het
G6pc1	A	G	11: 101,261,576 (GRCm39)	D92G	probably benign	Het
Gm3182	T	A	14: 4,483,921 (GRCm38)		probably null	Het
Gm4952	A	G	19: 12,601,068 (GRCm39)	N96S	probably damaging	Het
Gpr156	G	A	16: 37,812,491 (GRCm39)	V276M	probably damaging	Het
Irs2	A	G	8: 11,054,974 (GRCm39)	S1153P	probably damaging	Het
Kif21b	T	C	1: 136,086,093 (GRCm39)		probably benign	Het
Lmo7	A	T	14: 102,112,928 (GRCm39)		probably benign	Het
Mapk4	G	T	18: 74,103,415 (GRCm39)	N31K	probably damaging	Het
Mccc2	T	C	13: 100,100,319 (GRCm39)	T357A	probably damaging	Het
Mpeg1	A	G	19: 12,439,570 (GRCm39)	T343A	probably benign	Het
Myo3b	G	T	2: 70,257,160 (GRCm39)		probably benign	Het
Pald1	T	C	10: 61,156,963 (GRCm39)	E829G	possibly damaging	Het
Pde11a	A	G	2: 75,848,208 (GRCm39)	I873T	probably damaging	Het
Samd9l	T	A	6: 3,375,348 (GRCm39)	K638*	probably null	Het
Sema4d	A	G	13: 51,862,922 (GRCm39)	S479P	probably damaging	Het
Slc12a2	T	C	18: 58,037,407 (GRCm39)		probably benign	Het
Slc47a2	T	C	11: 61,194,769 (GRCm39)	N470S	probably damaging	Het
Spag17	C	T	3: 99,987,521 (GRCm39)	P1604S	probably benign	Het
Tlr11	A	G	14: 50,598,941 (GRCm39)	E309G	probably benign	Het
Tmem260	A	G	14: 48,724,371 (GRCm39)		probably benign	Het
Tsc1	A	T	2: 28,571,270 (GRCm39)	K816M	probably damaging	Het
Ttc29	A	G	8: 79,052,180 (GRCm39)	I354V	probably benign	Het
Ttll3	A	T	6: 113,386,158 (GRCm39)	N665Y	probably damaging	Het
Ubr4	A	G	4: 139,137,041 (GRCm39)	T971A	probably benign	Het
Vmn2r96	T	A	17: 18,803,137 (GRCm39)	I349N	probably benign	Het
Vwa5a	A	G	9: 38,646,143 (GRCm39)	T504A	probably benign	Het
Ythdf3	T	A	3: 16,258,882 (GRCm39)	V354E	possibly damaging	Het
Zan	C	A	5: 137,474,677 (GRCm39)	G13V	probably damaging	Het

Other mutations in Taf8

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02179:Taf8	APN	17	47,813,158 (GRCm39)	missense	probably benign	0.10
IGL02862:Taf8	APN	17	47,805,339 (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

2016-08-02