Mutagenetix > Incidental Mutation

Incidental Mutation 'R9338:Taf4b'

707335

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

Essential gene?

Possibly non essential (E-score: 0.487) question?

Stock #

R9338 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

14783245-14900359 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 14821498 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Proline to Serine at position 544 (P544S)

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: P544S

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000126909
Gene: ENSMUSG00000054321
AA Change: P544S

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: 99.9%
10x: 99.7%
20x: 98.8%

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: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb9	T	C	5: 124,090,113	T22A	possibly damaging	Het
Adam30	G	A	3: 98,162,813	G654D	probably damaging	Het
Cct3	T	C	3: 88,318,399	V343A	probably benign	Het
Col11a2	A	G	17: 34,047,230	T358A	unknown	Het
Cox6a2	T	C	7: 128,205,742	Y94C	probably damaging	Het
Cubn	T	A	2: 13,381,892	I1521F	probably damaging	Het
Dclk3	C	A	9: 111,439,305	A14E	unknown	Het
Dlgap2	T	C	8: 14,179,683		probably null	Het
Dopey2	C	A	16: 93,803,560	Q2042K	probably damaging	Het
Ech1	A	G	7: 28,826,002	S61G	probably null	Het
Ext2	T	A	2: 93,696,258	N678Y	probably damaging	Het
Fgfr2	G	T	7: 130,261,831	C28*	probably null	Het
Gm11487	T	C	4: 73,402,008	E178G	possibly damaging	Het
Gon4l	C	A	3: 88,901,712	D1754E	probably benign	Het
Hivep2	T	A	10: 14,128,949	C430*	probably null	Het
Htr7	C	T	19: 35,964,380		probably null	Het
Idh3b	A	T	2: 130,280,472	M331K	probably damaging	Het
Ighv2-7	A	T	12: 113,807,498	F56I	probably benign	Het
Inpp5k	C	T	11: 75,645,585	H330Y	probably damaging	Het
Kif26b	T	C	1: 178,916,493	Y1385H	probably damaging	Het
Mad1l1	A	G	5: 140,088,806	L543P	probably damaging	Het
Mdn1	A	T	4: 32,666,536	H158L	probably benign	Het
Mpp2	T	A	11: 102,060,423	T511S	probably benign	Het
Msh4	T	C	3: 153,867,807	I737V	possibly damaging	Het
Myo15b	T	C	11: 115,871,412	L1186P		Het
Nckap1l	A	G	15: 103,471,564	T346A	probably benign	Het
Nox4	G	A	7: 87,376,240	R525Q	probably benign	Het
Npy5r	T	C	8: 66,682,006	N45S	probably benign	Het
Olfr771	T	C	10: 129,160,741	N81S	probably benign	Het
Pde6a	G	A	18: 61,221,037	A145T	probably damaging	Het
Pfkp	A	C	13: 6,584,688	S678A	probably damaging	Het
Phxr2	A	G	10: 99,126,181		probably benign	Het
Pi4ka	C	A	16: 17,317,363	L942F		Het
Pkd1l3	GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA	GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA	8: 109,624,195		probably benign	Het
Pla2g4e	T	A	2: 120,189,433	T179S	probably benign	Het
Popdc2	G	A	16: 38,374,147	C310Y	probably benign	Het
Ppip5k1	C	T	2: 121,323,346	R113Q		Het
Prmt7	C	T	8: 106,235,033	R193C	unknown	Het
Prph	G	C	15: 99,057,478	R442P	probably damaging	Het
Prrc2b	A	G	2: 32,208,767	Y697C	probably damaging	Het
Ptprm	T	A	17: 66,762,148	R962S	probably damaging	Het
Raph1	A	G	1: 60,490,141	S654P	unknown	Het
Reln	A	G	5: 21,997,939	F1288L	probably damaging	Het
Rhot1	T	A	11: 80,254,742	I553N	probably benign	Het
Rnf168	T	C	16: 32,291,983		probably null	Het
Slamf6	T	A	1: 171,919,590		probably benign	Het
Srgap1	CTACCTCCTCTTAGGGACCACGCCCACCCCCTCCCAGGGACCATGCTTACCTCCTCTTAGGGACCACGCCCACCCCCTCCCAGGGACCATGCTTACCTCCTC	CTACCTCCTCTTAGGGACCACGCCCACCCCCTCCCAGGGACCATGCTTACCTCCTC	10: 121,853,553		probably benign	Het
Tbc1d24	A	G	17: 24,208,403	V195A	probably benign	Het
Tomm70a	A	G	16: 57,122,036	M59V	probably benign	Het
Trip12	A	G	1: 84,749,298	S1184P	probably damaging	Het
Trrap	A	G	5: 144,791,115	S549G	probably benign	Het
Unc5d	T	A	8: 29,219,443		probably benign	Het
Ush2a	G	A	1: 188,576,292		probably null	Het
Usp45	T	C	4: 21,784,755	V147A	probably damaging	Het
Vmn2r77	T	A	7: 86,811,786	N773K	probably damaging	Het
Vps13c	A	T	9: 67,951,695	N2809I	probably damaging	Het
Yeats2	T	A	16: 20,213,328	S984R	possibly damaging	Het
Yeats2	T	A	16: 20,222,783	L1141Q	probably damaging	Het
Zfp58	T	A	13: 67,491,275	T366S	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
R9155:Taf4b	UTSW	18	14813239	missense	probably benign	0.00
R9254:Taf4b	UTSW	18	14813374	missense	probably damaging	0.98
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

Predicted Primers

PCR Primer
(F):5'- GGCATTCTTATTGTGCTAGCAAG -3'
(R):5'- GAAATCAGCTTATAAACATCGCTGG -3'

Sequencing Primer
(F):5'- CATGCTTCCTTGAGTGAC -3'
(R):5'- CATCATGCTTGAAAGGTAAATGTTG -3'

Posted On

2022-04-18