Mutagenetix > Incidental Mutations

Incidental Mutation 'R9155:Taf4b'

695344

Institutional Source

Beutler Lab

Gene Symbol

Taf4b

Ensembl Gene

ENSMUSG00000054321

Gene Name

TATA-box binding protein associated factor 4b

Synonyms

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

Accession Numbers

Is this an essential gene?

Possibly non essential (E-score: 0.481) question?

Stock #

R9155 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

14783245-14900359 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 14813239 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 373 (V373A)

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
AA Change: V373A

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000126909
Gene: ENSMUSG00000054321
AA Change: V373A

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

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.0%

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: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700028K03Rik	A	G	5: 107,543,945	E34G	probably damaging	Het
4932415D10Rik	A	T	10: 82,284,369	I4269N	probably damaging	Het
Aldh1a3	A	T	7: 66,409,119	L157*	probably null	Het
Asic2	T	A	11: 80,894,046	T356S	probably benign	Het
Ate1	T	C	7: 130,394,733	D459G	probably damaging	Het
Cacna1g	T	A	11: 94,459,597	Q474L		Het
Carf	C	A	1: 60,150,683	T689K	possibly damaging	Het
Carmil2	A	G	8: 105,686,290	D6G	probably benign	Het
Ccnd2	A	C	6: 127,150,700	V25G	probably damaging	Het
Ccnk	T	A	12: 108,193,719	F153L	probably damaging	Het
Cdh23	C	T	10: 60,413,706	G808E	probably damaging	Het
Clec11a	C	T	7: 44,304,893	R212Q	probably damaging	Het
Cog4	T	C	8: 110,881,752	W749R	probably damaging	Het
Col6a3	T	A	1: 90,810,579	T1073S	probably benign	Het
Col6a4	T	A	9: 106,075,010	D563V	probably benign	Het
Coq5	A	G	5: 115,295,780		probably null	Het
Crebbp	A	C	16: 4,096,482	H1292Q	probably damaging	Het
Csmd3	C	A	15: 47,585,655	G2737W		Het
Ddrgk1	T	C	2: 130,658,307	Y223C	probably damaging	Het
Dennd1c	T	C	17: 57,066,796	Q589R	probably benign	Het
Dnah10	A	G	5: 124,830,411	D4336G	probably damaging	Het
Dnah11	C	T	12: 118,027,516	E2372K	probably damaging	Het
E330034G19Rik	A	T	14: 24,296,870	Q140L	possibly damaging	Het
Ergic3	A	G	2: 156,008,860	Y83C	probably damaging	Het
Fam171a2	A	T	11: 102,438,671	S421T	probably benign	Het
Fam26f	T	C	10: 34,126,367	E240G	probably damaging	Het
Fndc3a	T	A	14: 72,683,722	H4L	possibly damaging	Het
Gid8	T	A	2: 180,717,963	Y213*	probably null	Het
Gm9573	G	A	17: 35,621,239	P685L	unknown	Het
Hephl1	G	T	9: 15,089,079	H292Q	probably damaging	Het
Hexb	T	C	13: 97,177,906	Y443C	probably damaging	Het
Htr1f	C	T	16: 64,926,425	R168H	probably benign	Het
Hus1	A	G	11: 9,006,056	I159T	probably damaging	Het
Inha	A	G	1: 75,509,489	T143A	probably benign	Het
Itga8	A	G	2: 12,189,519	I690T	probably benign	Het
Itgae	G	T	11: 73,125,263	C766F	possibly damaging	Het
Kank4	T	C	4: 98,778,326	E628G	probably benign	Het
Kctd19	T	C	8: 105,393,939	H221R	probably benign	Het
Llgl1	A	G	11: 60,707,108	E351G	probably benign	Het
Lrba	A	G	3: 86,295,201	Y253C	probably damaging	Het
Lrp2	T	A	2: 69,461,369	R3489*	probably null	Het
Lrriq1	T	C	10: 103,214,779	N704S	probably benign	Het
Mbtps1	T	C	8: 119,508,954	N995S	probably benign	Het
Mga	T	C	2: 119,926,532	C1077R	probably damaging	Het
Ndufv1	A	T	19: 4,009,912	C142S	probably damaging	Het
Nkx3-1	T	C	14: 69,192,211	L226P	probably damaging	Het
Nsd1	C	T	13: 55,213,440	R74W	probably damaging	Het
Olfr136	A	T	17: 38,335,333	M59L	probably damaging	Het
Olfr1451	G	A	19: 12,999,064	C26Y	probably benign	Het
Olfr361	A	C	2: 37,085,004	M248R	probably benign	Het
Olfr412	A	G	11: 74,364,965	T99A	probably benign	Het
Olfr855	A	T	9: 19,585,083	D182V	probably benign	Het
Phc3	A	G	3: 30,914,542	V812A	probably benign	Het
Pigt	CCAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGATCTGTAACCACAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGATCTGTAACCACAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGAT	CCAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGATCTGTAACCACAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGAT	2: 164,499,669		probably null	Het
Ppp4c	A	T	7: 126,787,247	C193S	possibly damaging	Het
Rbbp5	C	A	1: 132,494,285	P308T	probably damaging	Het
Rhot1	A	G	11: 80,257,554	T607A	probably null	Het
Secisbp2l	G	A	2: 125,775,703	P18L	probably damaging	Het
Slc27a4	G	A	2: 29,811,282	G362S	probably damaging	Het
Slc4a8	T	C	15: 100,774,690	Y36H	probably damaging	Het
Sox17	T	C	1: 4,492,224	Y251C	probably damaging	Het
Tecpr2	T	A	12: 110,914,750	V107E	probably damaging	Het
Them7	A	G	2: 105,378,779	Y148C	probably damaging	Het
Tktl2	T	A	8: 66,513,206	M472K	possibly damaging	Het
Ttn	C	T	2: 76,795,593	V15041I	probably damaging	Het
Ubr1	A	G	2: 120,924,134	V751A	possibly damaging	Het
Vmn1r213	A	T	13: 23,012,173	R309*	probably null	Het
Vmn2r10	A	T	5: 108,996,346	D579E	probably benign	Het
Vmn2r118	T	C	17: 55,610,207	Q435R	probably null	Het
Vmn2r50	A	T	7: 10,047,644	H391Q	probably damaging	Het
Zbtb44	A	T	9: 31,054,013	I240F	probably benign	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
IGL03078:Taf4b	APN	18	14813554	missense	possibly damaging	0.48
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
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

Predicted Primers

PCR Primer
(F):5'- GTGCTTACCTAACTTGATGTGG -3'
(R):5'- ACACTGCTGCCACTGTATTTG -3'

Sequencing Primer
(F):5'- GCAAATTTCGCTTTACTTTGAGC -3'
(R):5'- CTGCCACTGTATTTGGTACTGATG -3'

Posted On

2022-01-20