Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01658:Taf4b'

103097

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Taf4b

Ensembl Gene

ENSMUSG00000054321

Gene Name

TATA-box binding protein associated factor 4b

Synonyms

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

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.495) question?

Stock #

IGL01658

Quality Score

Status

Chromosome

Chromosomal Location

14916302-15033416 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 14977477 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 750 (S750P)

Ref Sequence

ENSEMBL: ENSMUSP00000126909 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000169862
AA Change: S750P

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000126909
Gene: ENSMUSG00000054321
AA Change: S750P

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: 25 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Blm	A	G	7: 80,113,689 (GRCm39)	S1203P	probably damaging	Het
Cdc25a	C	A	9: 109,705,194 (GRCm39)		probably null	Het
Cstf1	T	A	2: 172,214,993 (GRCm39)	I38N	probably benign	Het
Fam168a	C	A	7: 100,462,180 (GRCm39)	P42T	possibly damaging	Het
Fstl5	A	G	3: 76,389,562 (GRCm39)	Q253R	possibly damaging	Het
Gpr26	C	T	7: 131,585,834 (GRCm39)	T268I	probably benign	Het
Herc2	T	A	7: 55,809,200 (GRCm39)	Y2567N	probably damaging	Het
Hspg2	C	T	4: 137,292,237 (GRCm39)	T4035I	probably damaging	Het
Iqgap3	G	A	3: 88,023,278 (GRCm39)	R523Q	possibly damaging	Het
Mad2l1	T	A	6: 66,514,586 (GRCm39)	V85E	possibly damaging	Het
Mical2	T	C	7: 111,914,205 (GRCm39)	Y292H	probably damaging	Het
Myom2	T	C	8: 15,127,880 (GRCm39)	S239P	probably damaging	Het
Ncoa3	T	C	2: 165,893,222 (GRCm39)		probably benign	Het
Nthl1	A	G	17: 24,853,819 (GRCm39)	T155A	probably benign	Het
Or2a14	T	A	6: 43,130,784 (GRCm39)	S182T	probably damaging	Het
Plcxd2	T	G	16: 45,785,424 (GRCm39)	E327A	probably benign	Het
Prr36	G	A	8: 4,265,243 (GRCm39)	P169L	probably damaging	Het
Satb1	C	A	17: 52,082,279 (GRCm39)	M458I	probably benign	Het
Smarcal1	T	C	1: 72,625,290 (GRCm39)	S146P	probably benign	Het
Tha1	A	G	11: 117,762,438 (GRCm39)	L102P	probably damaging	Het
Trf	A	G	9: 103,104,055 (GRCm39)	F103L	probably benign	Het
Trim2	T	C	3: 84,117,592 (GRCm39)	I8V	probably benign	Het
Usf1	C	T	1: 171,244,867 (GRCm39)	S177L	possibly damaging	Het
Usp12	T	C	5: 146,688,739 (GRCm39)	D205G	probably damaging	Het
Vps13b	A	G	15: 35,671,479 (GRCm39)	T1661A	probably damaging	Het

Other mutations in Taf4b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01755:Taf4b	APN	18	15,031,043 (GRCm39)	missense	probably benign	0.13
IGL01755:Taf4b	APN	18	15,031,042 (GRCm39)	missense	probably benign
IGL02049:Taf4b	APN	18	14,963,196 (GRCm39)	missense	probably benign	0.00
IGL02650:Taf4b	APN	18	14,975,040 (GRCm39)	nonsense	probably null
IGL03078:Taf4b	APN	18	14,946,611 (GRCm39)	missense	possibly damaging	0.48
IGL03169:Taf4b	APN	18	14,954,592 (GRCm39)	missense	probably damaging	1.00
IGL03261:Taf4b	APN	18	14,954,585 (GRCm39)	missense	probably benign
adirondack	UTSW	18	14,937,635 (GRCm39)	missense	probably null	0.16
R0266:Taf4b	UTSW	18	14,946,134 (GRCm39)	splice site	probably benign
R0385:Taf4b	UTSW	18	14,916,817 (GRCm39)	missense	probably benign	0.00
R1015:Taf4b	UTSW	18	14,946,155 (GRCm39)	missense	probably damaging	1.00
R1054:Taf4b	UTSW	18	14,954,530 (GRCm39)	missense	probably benign	0.00
R1416:Taf4b	UTSW	18	14,954,484 (GRCm39)	splice site	probably benign
R1435:Taf4b	UTSW	18	14,940,466 (GRCm39)	missense	probably damaging	1.00
R1609:Taf4b	UTSW	18	14,968,938 (GRCm39)	missense	probably damaging	1.00
R1611:Taf4b	UTSW	18	14,977,526 (GRCm39)	missense	probably null	1.00
R1906:Taf4b	UTSW	18	14,955,159 (GRCm39)	missense	probably benign	0.00
R2038:Taf4b	UTSW	18	14,940,456 (GRCm39)	missense	probably damaging	1.00
R2890:Taf4b	UTSW	18	14,937,849 (GRCm39)	missense	probably damaging	1.00
R4527:Taf4b	UTSW	18	14,954,499 (GRCm39)	missense	probably damaging	1.00
R4559:Taf4b	UTSW	18	14,946,583 (GRCm39)	missense	probably damaging	1.00
R4773:Taf4b	UTSW	18	14,937,577 (GRCm39)	missense	probably benign	0.30
R4857:Taf4b	UTSW	18	14,937,635 (GRCm39)	missense	probably null	0.16
R4946:Taf4b	UTSW	18	14,946,599 (GRCm39)	missense	probably damaging	1.00
R4984:Taf4b	UTSW	18	14,968,873 (GRCm39)	missense	probably damaging	1.00
R4994:Taf4b	UTSW	18	15,031,100 (GRCm39)	missense	probably damaging	0.99
R5010:Taf4b	UTSW	18	14,955,229 (GRCm39)	missense	possibly damaging	0.59
R5155:Taf4b	UTSW	18	14,963,152 (GRCm39)	missense	probably benign	0.07
R5874:Taf4b	UTSW	18	14,937,611 (GRCm39)	missense	probably benign
R6079:Taf4b	UTSW	18	14,955,255 (GRCm39)	missense	possibly damaging	0.75
R6303:Taf4b	UTSW	18	14,940,412 (GRCm39)	missense	probably damaging	1.00
R6304:Taf4b	UTSW	18	14,940,412 (GRCm39)	missense	probably damaging	1.00
R6372:Taf4b	UTSW	18	14,937,790 (GRCm39)	missense	probably damaging	1.00
R6972:Taf4b	UTSW	18	14,946,404 (GRCm39)	missense	possibly damaging	0.86
R7538:Taf4b	UTSW	18	14,946,602 (GRCm39)	missense	probably damaging	1.00
R7790:Taf4b	UTSW	18	14,946,331 (GRCm39)	missense	probably damaging	1.00
R8021:Taf4b	UTSW	18	14,937,581 (GRCm39)	missense	probably damaging	1.00
R8072:Taf4b	UTSW	18	14,954,585 (GRCm39)	missense	probably benign
R8075:Taf4b	UTSW	18	14,916,749 (GRCm39)	missense	possibly damaging	0.58
R8145:Taf4b	UTSW	18	14,963,085 (GRCm39)	missense	probably damaging	1.00
R8221:Taf4b	UTSW	18	15,031,106 (GRCm39)	missense	probably damaging	1.00
R8320:Taf4b	UTSW	18	14,916,749 (GRCm39)	missense	possibly damaging	0.58
R8509:Taf4b	UTSW	18	15,031,112 (GRCm39)	missense	probably damaging	1.00
R8535:Taf4b	UTSW	18	14,955,195 (GRCm39)	missense	probably damaging	0.99
R8772:Taf4b	UTSW	18	14,968,909 (GRCm39)	missense	probably damaging	1.00
R8805:Taf4b	UTSW	18	14,946,485 (GRCm39)	missense	possibly damaging	0.65
R8874:Taf4b	UTSW	18	14,963,127 (GRCm39)	missense	probably benign	0.39
R9155:Taf4b	UTSW	18	14,946,296 (GRCm39)	missense	probably benign	0.00
R9254:Taf4b	UTSW	18	14,946,431 (GRCm39)	missense	probably damaging	0.98
R9338:Taf4b	UTSW	18	14,954,555 (GRCm39)	missense	probably benign	0.00
R9379:Taf4b	UTSW	18	14,946,431 (GRCm39)	missense	probably damaging	0.98
R9630:Taf4b	UTSW	18	14,930,077 (GRCm39)	missense	probably damaging	0.96
R9686:Taf4b	UTSW	18	14,932,215 (GRCm39)	missense	possibly damaging	0.87
R9801:Taf4b	UTSW	18	14,932,235 (GRCm39)	missense	probably benign	0.01

Posted On

2014-01-21