Mutagenetix > Incidental Mutations

Incidental Mutation 'R8874:Taf4b'

676500

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: 0.342) question?

Stock #

R8874 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

14783245-14900359 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 14830070 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 622 (D622E)

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: D622E

PolyPhen 2 Score 0.390 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000126909
Gene: ENSMUSG00000054321
AA Change: D622E

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: 99.1%

Validation Efficiency

98% (53/54)

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: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb1b	A	G	5: 8,825,671	M615V	possibly damaging	Het
Bud31	T	C	5: 145,142,569		probably null	Het
Ccdc42	A	G	11: 68,594,570	K105E	probably damaging	Het
Cenpq	A	G	17: 40,931,660	S93P	probably damaging	Het
Cfh	A	G	1: 140,086,421	F1222L	probably damaging	Het
Cpxm2	A	T	7: 132,106,281		probably null	Het
Cubn	T	C	2: 13,360,346	D1627G	possibly damaging	Het
Diras2	T	C	13: 52,507,701	E190G	possibly damaging	Het
Dpyd	G	C	3: 118,999,332	A563P	probably damaging	Het
Efcab8	T	A	2: 153,798,649	N343K		Het
Fam26d	A	G	10: 34,044,268	M1T	probably null	Het
Gbp2b	A	G	3: 142,608,279	E440G	probably benign	Het
Ghrhr	T	C	6: 55,378,906	F30L	probably benign	Het
Gm3404	T	A	5: 146,528,143	V231E	possibly damaging	Het
Gramd4	A	G	15: 86,100,892	H143R	probably damaging	Het
Greb1l	A	T	18: 10,544,896	E1408V	probably benign	Het
Hdgfl1	T	G	13: 26,770,024	Y22S	probably damaging	Het
Heatr1	T	A	13: 12,430,912	V1590D	probably damaging	Het
Hecw2	A	T	1: 53,904,449		probably benign	Het
Igkv8-30	C	A	6: 70,117,166	R87L	probably damaging	Het
Il18rap	T	A	1: 40,525,346	C179S	probably damaging	Het
Jph4	T	C	14: 55,114,077	T161A	possibly damaging	Het
Klhdc7a	A	T	4: 139,967,585	M17K	probably damaging	Het
Kpnb1	T	C	11: 97,165,383	N699S	probably benign	Het
Lama3	T	C	18: 12,449,586		probably null	Het
Lca5	A	G	9: 83,395,450	F614L	probably damaging	Het
Lyst	T	C	13: 13,637,562	V853A	probably benign	Het
Map2	A	T	1: 66,416,364	T1406S	probably damaging	Het
Med23	A	G	10: 24,895,719	I552V	possibly damaging	Het
Myo1h	A	T	5: 114,334,102	I414L		Het
Myom1	A	G	17: 71,106,204	K1271E	probably damaging	Het
Olfr126	A	T	17: 37,850,784	K64M	probably damaging	Het
Olfr133	T	A	17: 38,148,732	V48E	possibly damaging	Het
Olfr873	T	C	9: 20,300,773	F192S	possibly damaging	Het
Pkd1l3	GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA	GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA	8: 109,624,195		probably benign	Het
Prdm2	A	T	4: 143,133,215	D1168E	possibly damaging	Het
Prr5	T	C	15: 84,699,715	M181T	probably damaging	Het
Ptpdc1	A	G	13: 48,590,692	I151T	probably damaging	Het
Ptpn7	T	C	1: 135,139,266	V287A	possibly damaging	Het
Ptprz1	T	C	6: 23,042,748	V2057A		Het
Rad17	G	T	13: 100,617,819	A631E	probably benign	Het
Sf3a2	ACTCCAGGGGTGCACCCACCAGCTCCAGGGGTGCACCCACCAGCTCCAGGGGTGCACCCACCAGCTCCAGGGGT	ACTCCAGGGGTGCACCCACCAGCTCCAGGGGTGCACCCACCAGCTCCAGGGGT	10: 80,804,437		probably benign	Het
Slc22a2	A	T	17: 12,609,979	D324V	probably benign	Het
Ssfa2	A	G	2: 79,657,340	K589R	probably benign	Het
Strc	C	T	2: 121,374,872		probably null	Het
Tgfbrap1	A	C	1: 43,075,813	N42K	probably benign	Het
Uvrag	A	G	7: 98,979,736	F375L	probably benign	Het
Vmn2r76	A	G	7: 86,228,791	I466T	probably damaging	Het
Vmn2r8	T	C	5: 108,808,751	K2E	probably damaging	Het
Vps13d	T	C	4: 145,155,202	T1274A		Het
Vwa3b	C	T	1: 37,035,758	A2V	possibly damaging	Het
Ylpm1	T	C	12: 85,069,620	V2092A	probably damaging	Het
Zfp638	T	C	6: 83,969,153	S1055P	probably damaging	Het
Zzef1	A	G	11: 72,863,989	T982A	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
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

Predicted Primers

PCR Primer
(F):5'- GGGCGTTCTTAAAGTCACTTC -3'
(R):5'- TTAGAGTCCCAGGCCATCTC -3'

Sequencing Primer
(F):5'- CGTTCTTAAAGTCACTTCGTAGG -3'
(R):5'- TCTGTAGAGCTCCAATGAC -3'

Posted On

2021-07-15