Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03078:Taf4b'

417761

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Taf4b

Ensembl Gene

ENSMUSG00000054321

Gene Name

TATA-box binding protein associated factor 4b

Synonyms

Taf2c2, TAFII105, 2610524B04Rik, 105kDa, 4932409F03Rik

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.340) question?

Stock #

IGL03078

Quality Score

Status

Chromosome

Chromosomal Location

14783245-14900359 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 14813554 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Glutamic Acid at position 478 (A478E)

Ref Sequence

ENSEMBL: ENSMUSP00000126909 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000169862]

AlphaFold

no structure available at present

Predicted Effect

possibly damaging
Transcript: ENSMUST00000169862
AA Change: A478E

PolyPhen 2 Score 0.480 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000126909
Gene: ENSMUSG00000054321
AA Change: A478E

Domain	Start	End	E-Value	Type
low complexity region	8	23	N/A	INTRINSIC
low complexity region	185	196	N/A	INTRINSIC
Pfam:TAFH	257	348	5.3e-39	PFAM
low complexity region	359	376	N/A	INTRINSIC
low complexity region	412	422	N/A	INTRINSIC
Pfam:TAF4	610	852	4e-72	PFAM

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] TATA binding protein (TBP) and TBP-associated factors (TAFs) participate in the formation of the TFIID protein complex, which is involved in initiation of transcription of genes by RNA polymerase II. This gene encodes a cell type-specific TAF that may be responsible for mediating transcription by a subset of activators in B cells. Three transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Jun 2014]
PHENOTYPE: Homozygotes for a targeted null mutation are infertile due to a granulosa cell defect preventing normal follicle formation. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 29 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca5	T	A	11: 110,276,545	K1482*	probably null	Het
Adam15	A	G	3: 89,345,937		probably benign	Het
Adamdec1	C	T	14: 68,568,850	R392H	possibly damaging	Het
Anxa7	T	C	14: 20,456,556	K439E	probably damaging	Het
Arap2	T	A	5: 62,733,065		probably benign	Het
Asic5	A	G	3: 82,014,428	E367G	possibly damaging	Het
Btbd11	C	T	10: 85,632,163	A774V	probably damaging	Het
Cubn	T	C	2: 13,287,094	T3307A	possibly damaging	Het
Dnd1	T	C	18: 36,766,144	E8G	probably damaging	Het
Eif2ak1	T	C	5: 143,873,769	I99T	probably benign	Het
Fras1	C	T	5: 96,636,135	R833C	probably damaging	Het
Hectd1	A	G	12: 51,802,236	S362P	probably damaging	Het
Hs3st4	A	G	7: 124,397,446	E445G	probably damaging	Het
Kcnh1	A	G	1: 192,434,800	T21A	probably damaging	Het
Kif26b	G	A	1: 178,870,726	R594H	probably damaging	Het
Lsm14b	T	C	2: 180,026,728	I74T	probably damaging	Het
Myh2	T	A	11: 67,190,430	S1291T	probably benign	Het
Myo3b	T	A	2: 70,286,991	F923I	probably damaging	Het
Obscn	T	C	11: 59,078,798		probably null	Het
Olfr583	T	C	7: 103,051,829	F177S	probably damaging	Het
Olfr920	C	T	9: 38,756,245	Q186*	probably null	Het
Piezo2	A	C	18: 63,070,075	M1484R	probably damaging	Het
Rhoh	T	A	5: 65,892,888	V167D	probably damaging	Het
Rspo3	T	C	10: 29,504,661	Y119C	probably damaging	Het
Scpep1	T	A	11: 88,935,831	I260F	possibly damaging	Het
Slc15a3	T	A	19: 10,857,245	F497I	probably damaging	Het
Stom	T	C	2: 35,315,929	K263E	probably damaging	Het
Ttn	C	T	2: 76,770,250		probably benign	Het
Wdr95	C	T	5: 149,611,597	A598V	possibly damaging	Het

Other mutations in Taf4b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01658:Taf4b	APN	18	14844420	missense	probably damaging	1.00
IGL01755:Taf4b	APN	18	14897985	missense	probably benign
IGL01755:Taf4b	APN	18	14897986	missense	probably benign	0.13
IGL02049:Taf4b	APN	18	14830139	missense	probably benign	0.00
IGL02650:Taf4b	APN	18	14841983	nonsense	probably null
IGL03169:Taf4b	APN	18	14821535	missense	probably damaging	1.00
IGL03261:Taf4b	APN	18	14821528	missense	probably benign
adirondack	UTSW	18	14804578	missense	probably null	0.16
R0266:Taf4b	UTSW	18	14813077	splice site	probably benign
R0385:Taf4b	UTSW	18	14783760	missense	probably benign	0.00
R1015:Taf4b	UTSW	18	14813098	missense	probably damaging	1.00
R1054:Taf4b	UTSW	18	14821473	missense	probably benign	0.00
R1416:Taf4b	UTSW	18	14821427	splice site	probably benign
R1435:Taf4b	UTSW	18	14807409	missense	probably damaging	1.00
R1609:Taf4b	UTSW	18	14835881	missense	probably damaging	1.00
R1611:Taf4b	UTSW	18	14844469	missense	probably null	1.00
R1906:Taf4b	UTSW	18	14822102	missense	probably benign	0.00
R2038:Taf4b	UTSW	18	14807399	missense	probably damaging	1.00
R2890:Taf4b	UTSW	18	14804792	missense	probably damaging	1.00
R4527:Taf4b	UTSW	18	14821442	missense	probably damaging	1.00
R4559:Taf4b	UTSW	18	14813526	missense	probably damaging	1.00
R4773:Taf4b	UTSW	18	14804520	missense	probably benign	0.30
R4857:Taf4b	UTSW	18	14804578	missense	probably null	0.16
R4946:Taf4b	UTSW	18	14813542	missense	probably damaging	1.00
R4984:Taf4b	UTSW	18	14835816	missense	probably damaging	1.00
R4994:Taf4b	UTSW	18	14898043	missense	probably damaging	0.99
R5010:Taf4b	UTSW	18	14822172	missense	possibly damaging	0.59
R5155:Taf4b	UTSW	18	14830095	missense	probably benign	0.07
R5874:Taf4b	UTSW	18	14804554	missense	probably benign
R6079:Taf4b	UTSW	18	14822198	missense	possibly damaging	0.75
R6303:Taf4b	UTSW	18	14807355	missense	probably damaging	1.00
R6304:Taf4b	UTSW	18	14807355	missense	probably damaging	1.00
R6372:Taf4b	UTSW	18	14804733	missense	probably damaging	1.00
R6972:Taf4b	UTSW	18	14813347	missense	possibly damaging	0.86
R7538:Taf4b	UTSW	18	14813545	missense	probably damaging	1.00
R7790:Taf4b	UTSW	18	14813274	missense	probably damaging	1.00
R8021:Taf4b	UTSW	18	14804524	missense	probably damaging	1.00
R8072:Taf4b	UTSW	18	14821528	missense	probably benign
R8075:Taf4b	UTSW	18	14783692	missense	possibly damaging	0.58
R8145:Taf4b	UTSW	18	14830028	missense	probably damaging	1.00
R8221:Taf4b	UTSW	18	14898049	missense	probably damaging	1.00
R8320:Taf4b	UTSW	18	14783692	missense	possibly damaging	0.58
R8509:Taf4b	UTSW	18	14898055	missense	probably damaging	1.00
R8535:Taf4b	UTSW	18	14822138	missense	probably damaging	0.99
R8772:Taf4b	UTSW	18	14835852	missense	probably damaging	1.00
R8805:Taf4b	UTSW	18	14813428	missense	possibly damaging	0.65
R8874:Taf4b	UTSW	18	14830070	missense	probably benign	0.39
R9155:Taf4b	UTSW	18	14813239	missense	probably benign	0.00
R9254:Taf4b	UTSW	18	14813374	missense	probably damaging	0.98
R9338:Taf4b	UTSW	18	14821498	missense	probably benign	0.00
R9379:Taf4b	UTSW	18	14813374	missense	probably damaging	0.98
R9630:Taf4b	UTSW	18	14797020	missense	probably damaging	0.96
R9686:Taf4b	UTSW	18	14799158	missense	possibly damaging	0.87
R9801:Taf4b	UTSW	18	14799178	missense	probably benign	0.01

Posted On

2016-08-02