Mutagenetix > Incidental Mutations

Incidental Mutation 'R1435:Taf4b'

159489

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

MMRRC Submission

039490-MU

Accession Numbers

Is this an essential gene?

Possibly non essential (E-score: 0.401) question?

Stock #

R1435 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

14783245-14900359 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 14807409 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Leucine at position 315 (Q315L)

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: Q315L

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000126909
Gene: ENSMUSG00000054321
AA Change: Q315L

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: 98.7%
3x: 97.5%
10x: 93.0%
20x: 81.3%

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: 67 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2810474O19Rik	A	G	6: 149,326,082	T209A	probably benign	Het
Acadvl	T	G	11: 70,014,816	T62P	probably benign	Het
AF067061	T	A	13: 120,263,988	W63R	probably damaging	Het
Amz1	A	T	5: 140,748,166	N166Y	probably damaging	Het
Anxa6	T	C	11: 54,991,410	Q518R	probably benign	Het
Aox3	G	A	1: 58,163,446		probably null	Het
Arid1a	C	T	4: 133,680,698	R2166Q	unknown	Het
Armc4	T	A	18: 7,222,646	H541L	probably benign	Het
Asb4	T	G	6: 5,398,410	I125S	probably benign	Het
Aspscr1	T	C	11: 120,689,222	S196P	probably benign	Het
Atxn3	A	G	12: 101,942,201	F131L	probably benign	Het
B3gnt5	T	A	16: 19,769,174	Y48N	probably damaging	Het
Bglap3	A	G	3: 88,369,146	M35T	possibly damaging	Het
Cabp1	A	T	5: 115,173,208	D79E	probably damaging	Het
Chd2	C	T	7: 73,453,136	R1367Q	probably damaging	Het
Clec5a	T	A	6: 40,584,424	Q29L	probably damaging	Het
Cmtr2	T	C	8: 110,221,079	L7P	probably benign	Het
Cnbd1	T	C	4: 18,907,026	I183V	probably benign	Het
Col7a1	G	A	9: 108,963,273	G1297D	unknown	Het
Csnk1g3	G	A	18: 53,906,674		probably null	Het
Cyp4a32	A	T	4: 115,606,666	N134I	probably damaging	Het
Cyp4f16	CTATG	CTATGTATG	17: 32,550,734		probably null	Het
Dst	G	A	1: 34,113,945	V56M	probably damaging	Het
Engase	A	T	11: 118,484,901	T32S	probably damaging	Het
Fam117b	T	C	1: 59,969,063	I352T	possibly damaging	Het
Golga4	C	A	9: 118,535,440	D290E	probably benign	Het
Gtf2a1l	C	A	17: 88,694,315	H153N	probably damaging	Het
Hivep1	C	A	13: 42,158,043	T1253N	probably damaging	Het
Hps1	T	C	19: 42,762,275	S398G	probably benign	Het
Il1r2	T	A	1: 40,105,299	F49I	probably damaging	Het
Iqsec1	A	G	6: 90,672,024	S808P	probably damaging	Het
Lrrk1	A	G	7: 66,273,028	L289P	probably damaging	Het
Magi2	T	A	5: 20,358,945	D358E	probably damaging	Het
Man2b2	A	G	5: 36,813,067	W832R	probably damaging	Het
Mfsd4a	G	T	1: 132,067,756	T46K	probably damaging	Het
N4bp3	G	A	11: 51,644,340	R341W	probably damaging	Het
Olfr284	A	T	15: 98,340,328	H220Q	possibly damaging	Het
Olfr568	T	C	7: 102,877,767	S216P	probably damaging	Het
Otof	A	G	5: 30,378,695	L1353S	probably benign	Het
Pcsk5	A	T	19: 17,563,882	C844*	probably null	Het
Pdk2	T	C	11: 95,031,895	Y153C	probably damaging	Het
Pes1	T	C	11: 3,976,075	V292A	probably benign	Het
Pex14	T	C	4: 148,963,527	T198A	probably benign	Het
Phactr4	G	A	4: 132,377,248	T256I	probably benign	Het
Pnpla2	G	A	7: 141,457,411	R109H	probably benign	Het
Polh	G	A	17: 46,194,255	T145I	probably damaging	Het
Polr3d	A	T	14: 70,440,039	V299E	probably benign	Het
Polr3e	C	T	7: 120,940,788	T586M	probably benign	Het
Rbm20	T	A	19: 53,814,157	F365L	probably benign	Het
Rnf213	G	T	11: 119,436,005	C1606F	probably damaging	Het
Sipa1l2	A	G	8: 125,468,725	V758A	probably damaging	Het
Slc22a16	T	A	10: 40,587,607	M451K	probably damaging	Het
Slc28a1	T	C	7: 81,153,517	S359P	probably damaging	Het
Slc45a1	G	T	4: 150,644,048	F99L	probably damaging	Het
Sp3	A	T	2: 72,938,156	N754K	possibly damaging	Het
Tmem2	A	T	19: 21,844,706	Q1155L	probably benign	Het
Tmprss15	A	T	16: 79,021,454	N544K	probably benign	Het
Tnfsf13b	A	G	8: 10,035,358	I283V	probably benign	Het
Tnfsf14	T	A	17: 57,190,605	E209V	possibly damaging	Het
Uckl1	T	G	2: 181,573,133	S283R	probably benign	Het
Ush1g	T	C	11: 115,318,468	D300G	probably damaging	Het
Virma	C	T	4: 11,528,621	A1286V	probably damaging	Het
Vmn2r114	ATTT	ATT	17: 23,290,932		probably null	Het
Vmn2r59	A	T	7: 42,046,205	M261K	possibly damaging	Het
Vwf	A	T	6: 125,642,249	K1297*	probably null	Het
Zdbf2	G	A	1: 63,303,040	E193K	possibly damaging	Het
Zfp759	T	G	13: 67,138,766	I127S	possibly damaging	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
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
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'- CCCAACAAGCTCCCTGAAATGTAGAGTA -3'
(R):5'- CAACACTTGGGACACAGACAAGGAA -3'

Sequencing Primer
(F):5'- ccttcaactcataggctaaagtg -3'
(R):5'- tgtgtttgccacaaagcc -3'

Posted On

2014-03-14