Mutagenetix > Incidental Mutation

Incidental Mutation 'R0266:Taf4b'

34965

Institutional Source

Beutler Lab

Gene Symbol

Taf4b

Ensembl Gene

ENSMUSG00000054321

Gene Name

TATA-box binding protein associated factor 4b

Synonyms

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

MMRRC Submission

038492-MU

Accession Numbers

Essential gene?

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

Stock #

R0266 (G1)

Quality Score

125

Status

Validated

Chromosome

Chromosomal Location

14916302-15033416 bp(+) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

T to C at 14946134 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000126909 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000169862

SMART Domains

Protein: ENSMUSP00000126909
Gene: ENSMUSG00000054321

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

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 98.3%
3x: 97.2%
10x: 94.9%
20x: 89.8%

Validation Efficiency

100% (79/79)

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: 77 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700001K19Rik	A	G	12: 110,635,188 (GRCm39)	S117P	possibly damaging	Het
Aars2	T	C	17: 45,818,436 (GRCm39)		probably benign	Het
Acot11	T	C	4: 106,607,185 (GRCm39)	D466G	probably damaging	Het
Adgrd1	G	A	5: 129,216,658 (GRCm39)	A342T	probably benign	Het
Apbb2	A	T	5: 66,459,954 (GRCm39)	N714K	probably benign	Het
Aqp12	C	A	1: 92,934,572 (GRCm39)	H150N	possibly damaging	Het
Brinp3	T	A	1: 146,558,418 (GRCm39)	L114*	probably null	Het
Ccng2	T	C	5: 93,419,148 (GRCm39)		probably benign	Het
Cd36	T	A	5: 18,003,250 (GRCm39)	R265S	probably benign	Het
Ces4a	T	C	8: 105,868,598 (GRCm39)	L104S	probably benign	Het
Clca4b	T	C	3: 144,628,547 (GRCm39)	I387V	probably damaging	Het
Cul7	T	A	17: 46,965,521 (GRCm39)	H566Q	probably benign	Het
Ddx60	A	T	8: 62,486,527 (GRCm39)	H1646L	possibly damaging	Het
Dntt	T	C	19: 41,047,566 (GRCm39)	I503T	probably damaging	Het
Dynlt1a	T	G	17: 6,367,670 (GRCm39)	E2D	probably benign	Het
Efemp2	G	T	19: 5,528,027 (GRCm39)	C78F	probably damaging	Het
Esco1	T	C	18: 10,594,605 (GRCm39)	E227G	probably benign	Het
Fezf2	T	A	14: 12,342,607 (GRCm38)	K419N	probably damaging	Het
Gm17541	A	T	12: 4,739,487 (GRCm39)		probably benign	Het
Gm2381	G	A	7: 42,469,372 (GRCm39)	Q251*	probably null	Het
Gm4782	T	G	6: 50,587,674 (GRCm39)	S686R	probably damaging	Het
Grin3a	G	A	4: 49,665,501 (GRCm39)	R1045*	probably null	Het
Grm8	T	C	6: 27,285,895 (GRCm39)	Y839C	probably damaging	Het
Gtf3c1	G	A	7: 125,243,306 (GRCm39)	P1766L	possibly damaging	Het
Herc2	T	A	7: 55,856,326 (GRCm39)	H3921Q	probably damaging	Het
Hes6	A	T	1: 91,340,026 (GRCm39)	D143E	possibly damaging	Het
Hmcn2	A	G	2: 31,284,839 (GRCm39)	E2055G	probably benign	Het
Hmcn2	G	A	2: 31,335,365 (GRCm39)		probably benign	Het
Ikzf3	A	G	11: 98,358,143 (GRCm39)	L398P	probably benign	Het
Il10ra	A	T	9: 45,176,950 (GRCm39)	I125N	probably benign	Het
Kcnb2	G	A	1: 15,783,137 (GRCm39)		probably benign	Het
Krt77	T	C	15: 101,777,813 (GRCm39)	R81G	possibly damaging	Het
Lrrc40	T	A	3: 157,747,298 (GRCm39)		probably null	Het
Man1a2	C	T	3: 100,489,350 (GRCm39)	R543Q	probably damaging	Het
Mansc1	T	C	6: 134,587,670 (GRCm39)	D169G	probably benign	Het
Mdn1	T	A	4: 32,741,835 (GRCm39)	S3869T	probably damaging	Het
Mettl14	A	T	3: 123,176,475 (GRCm39)	S58T	probably benign	Het
Mrpl4	T	C	9: 20,914,610 (GRCm39)	V62A	probably benign	Het
Myh3	A	G	11: 66,984,498 (GRCm39)	D1085G	possibly damaging	Het
Myo5c	C	A	9: 75,191,498 (GRCm39)		probably benign	Het
Naalad2	G	T	9: 18,262,239 (GRCm39)		probably benign	Het
Nat3	A	G	8: 68,000,432 (GRCm39)	T104A	probably benign	Het
Nek4	A	G	14: 30,679,253 (GRCm39)	E198G	probably damaging	Het
Olfm1	A	G	2: 28,119,619 (GRCm39)	Y403C	probably damaging	Het
Or5w11	C	A	2: 87,459,626 (GRCm39)	T273K	possibly damaging	Het
Or7e177	A	T	9: 20,212,454 (GRCm39)	R320S	probably benign	Het
Osbpl1a	T	A	18: 13,004,220 (GRCm39)		probably null	Het
Pax7	G	A	4: 139,507,047 (GRCm39)	S330L	possibly damaging	Het
Pcdhb15	C	A	18: 37,608,329 (GRCm39)	D520E	probably damaging	Het
Pgm3	T	C	9: 86,449,586 (GRCm39)	T145A	probably benign	Het
Phox2b	G	A	5: 67,253,968 (GRCm39)		probably null	Het
Pik3r6	A	T	11: 68,417,234 (GRCm39)	R59*	probably null	Het
Pold1	A	G	7: 44,190,449 (GRCm39)		probably benign	Het
Ppp1r21	T	C	17: 88,876,500 (GRCm39)		probably benign	Het
Prl5a1	A	G	13: 28,333,970 (GRCm39)	K158E	possibly damaging	Het
Rag2	T	G	2: 101,460,948 (GRCm39)	C419W	probably damaging	Het
Reln	A	G	5: 22,193,774 (GRCm39)	S1395P	probably damaging	Het
Retnlb	T	G	16: 48,639,022 (GRCm39)	Y74*	probably null	Het
Robo3	A	G	9: 37,333,936 (GRCm39)	S633P	probably damaging	Het
Ryr1	A	G	7: 28,740,104 (GRCm39)	S3941P	probably damaging	Het
Scnn1b	A	G	7: 121,511,698 (GRCm39)	N370S	probably damaging	Het
Slc6a5	C	A	7: 49,588,156 (GRCm39)		probably benign	Het
Sort1	T	A	3: 108,252,247 (GRCm39)	N481K	probably benign	Het
Sptlc3	T	A	2: 139,437,957 (GRCm39)	I417K	possibly damaging	Het
Svil	T	A	18: 5,099,063 (GRCm39)		probably benign	Het
Tchp	T	C	5: 114,847,394 (GRCm39)	M71T	possibly damaging	Het
Thsd4	T	A	9: 59,904,417 (GRCm39)	H233L	probably benign	Het
Tmem217	G	T	17: 29,745,573 (GRCm39)	N52K	possibly damaging	Het
Tmem38b	T	C	4: 53,840,765 (GRCm39)	L60S	probably damaging	Het
Uqcrfs1	A	C	13: 30,725,146 (GRCm39)	N131K	probably benign	Het
Vars1	T	A	17: 35,232,845 (GRCm39)	S896R	probably benign	Het
Vmn1r170	A	T	7: 23,305,906 (GRCm39)	M103L	probably benign	Het
Vmn2r22	T	C	6: 123,614,363 (GRCm39)	Y409C	probably damaging	Het
Vmn2r92	C	T	17: 18,388,219 (GRCm39)	A408V	probably damaging	Het
Wdr49	A	T	3: 75,359,103 (GRCm39)	I8N	possibly damaging	Het
Zfp648	T	A	1: 154,080,632 (GRCm39)	Y264N	probably damaging	Het
Zmym1	A	C	4: 126,941,818 (GRCm39)	F857V	possibly damaging	Het

Other mutations in Taf4b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01658:Taf4b	APN	18	14,977,477 (GRCm39)	missense	probably damaging	1.00
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
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

Predicted Primers

PCR Primer
(F):5'- TGGCATCACCTAGAGCCAAGAGAG -3'
(R):5'- CTGGGGAAACTGTACTTGTCACCAC -3'

Sequencing Primer
(F):5'- tttttttCACTAAGAAAGCACTTCAG -3'
(R):5'- CTGTACTTGTCACCACAGGAG -3'

Posted On

2013-05-09