Mutagenetix > Incidental Mutation

Incidental Mutation 'R5582:Btaf1'

438537

Institutional Source

Beutler Lab

Gene Symbol

Btaf1

Ensembl Gene

ENSMUSG00000040565

Gene Name

B-TFIID TATA-box binding protein associated factor 1

Synonyms

E430027O22Rik

MMRRC Submission

043136-MU

Accession Numbers

Genbank: NM_001080706

Essential gene?

Probably essential (E-score: 0.963) question?

Stock #

R5582 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

36926079-37012752 bp(+) (GRCm38)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

T to C at 36988173 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000097093 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000099494]

AlphaFold

E9QAE3

Predicted Effect

probably null
Transcript: ENSMUST00000099494

SMART Domains

Protein: ENSMUSP00000097093
Gene: ENSMUSG00000040565

Domain	Start	End	E-Value	Type
low complexity region	87	98	N/A	INTRINSIC
low complexity region	143	152	N/A	INTRINSIC
PDB:3OC3\|B	276	414	3e-6	PDB
low complexity region	438	454	N/A	INTRINSIC
Pfam:DUF3535	585	1051	1.1e-133	PFAM
low complexity region	1099	1110	N/A	INTRINSIC
low complexity region	1177	1192	N/A	INTRINSIC
DEXDc	1261	1469	3.02e-30	SMART
low complexity region	1630	1641	N/A	INTRINSIC
HELICc	1657	1743	2.22e-19	SMART

Meta Mutation Damage Score

0.9496

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.7%
20x: 96.6%

Validation Efficiency

98% (61/62)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a TAF (TATA box-binding protein-associated factor), which associates with TBP (TATA box-binding protein) to form the B-TFIID complex that is required for transcription initiation of genes by RNA polymerase II. This TAF has DNA-dependent ATPase activity, which drives the dissociation of TBP from DNA, freeing the TBP to associate with other TATA boxes or TATA-less promoters. [provided by RefSeq, Sep 2011]
PHENOTYPE: Embryos homozygous for a gene-trapped allele display growth retardation. Embryos homozygous for an ENU-induced allele show growth retardation, edema, abnormal blood circulation, myocardial trabeculae hypoplasia, and delayed head and brain development. [provided by MGI curators]

Allele List at MGI

All alleles(40) : Gene trapped(40)

Other mutations in this stock

Total: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca13	A	C	11: 9,636,639 (GRCm38)		probably null	Het
Agxt2	A	G	15: 10,399,159 (GRCm38)	D444G	probably damaging	Het
Aldh1b1	G	T	4: 45,802,750 (GRCm38)	R96L	probably damaging	Het
Ank2	T	C	3: 126,946,305 (GRCm38)		probably benign	Het
Apob	A	G	12: 8,010,788 (GRCm38)	Y3090C	probably damaging	Het
Bbx	A	G	16: 50,223,356 (GRCm38)	S647P	probably damaging	Het
Brinp2	T	C	1: 158,249,409 (GRCm38)	Y372C	probably damaging	Het
Cdk5rap1	T	A	2: 154,345,974 (GRCm38)	E477D	probably benign	Het
Cfap65	G	A	1: 74,907,518 (GRCm38)		probably benign	Het
Chdh	A	G	14: 30,036,859 (GRCm38)	Y587C	probably damaging	Het
Chek2	T	C	5: 110,868,035 (GRCm38)	V472A	probably damaging	Het
Clasrp	A	C	7: 19,586,856 (GRCm38)	I326S	probably damaging	Het
Clic6	A	T	16: 92,499,454 (GRCm38)	Q334L	possibly damaging	Het
Cyp2d11	A	T	15: 82,392,118 (GRCm38)		probably null	Het
Entpd7	T	C	19: 43,704,994 (GRCm38)	I171T	probably damaging	Het
Fosl1	T	C	19: 5,455,267 (GRCm38)		probably benign	Het
Gm10130	T	C	2: 150,363,052 (GRCm38)		probably benign	Het
Gm6124	A	G	7: 39,220,198 (GRCm38)		noncoding transcript	Het
H3f3a	A	T	1: 180,810,085 (GRCm38)		probably benign	Het
Hs1bp3	AGAGGAGGAGGAGGAGGAGGAGGAGGAGG	AGAGGAGGAGGAGGAGGAGGAGGAGG	12: 8,324,048 (GRCm38)		probably benign	Het
Idh2	CCAGGGC	CC	7: 80,098,339 (GRCm38)		probably null	Het
Igkv3-7	A	G	6: 70,608,006 (GRCm38)	Y110C	probably damaging	Het
Ints9	C	T	14: 65,028,896 (GRCm38)	T399M	possibly damaging	Het
Kctd19	G	A	8: 105,408,443 (GRCm38)	T62M	probably damaging	Het
Lsmem1	A	G	12: 40,180,644 (GRCm38)		probably null	Het
Obscn	T	C	11: 59,099,976 (GRCm38)		probably null	Het
Olfr340	T	C	2: 36,453,221 (GRCm38)	I212T	probably benign	Het
Olfr748	T	C	14: 50,710,968 (GRCm38)	Y213H	probably damaging	Het
Otop3	T	A	11: 115,339,339 (GRCm38)	M14K	unknown	Het
Pibf1	C	T	14: 99,137,130 (GRCm38)	A335V	possibly damaging	Het
Pkd1l2	A	T	8: 117,040,783 (GRCm38)	L1256*	probably null	Het
Plbd2	T	C	5: 120,493,106 (GRCm38)	E202G	probably benign	Het
Ppp1r37	A	G	7: 19,532,294 (GRCm38)	S516P	probably damaging	Het
Ppt2	G	A	17: 34,617,399 (GRCm38)	T229M	probably damaging	Het
Prr14	A	T	7: 127,476,397 (GRCm38)	I526F	probably damaging	Het
Scel	T	C	14: 103,583,139 (GRCm38)		probably benign	Het
Scn9a	A	T	2: 66,565,029 (GRCm38)		probably benign	Het
Senp6	T	A	9: 80,089,876 (GRCm38)	D57E	possibly damaging	Het
Setd5	T	C	6: 113,114,925 (GRCm38)	Y217H	probably damaging	Het
Sgcg	T	C	14: 61,225,305 (GRCm38)	T198A	probably damaging	Het
Sipa1	C	T	19: 5,654,701 (GRCm38)	G622D	probably benign	Het
Slc27a2	C	T	2: 126,564,690 (GRCm38)	A98V	probably damaging	Het
Slitrk3	G	T	3: 73,050,404 (GRCm38)	P345Q	probably benign	Het
Slx4	T	C	16: 3,985,788 (GRCm38)	D1054G	possibly damaging	Het
Sned1	A	T	1: 93,282,361 (GRCm38)	T898S	probably damaging	Het
Tg	C	T	15: 66,693,435 (GRCm38)	P1209S	probably damaging	Het
Tmem63b	C	A	17: 45,667,763 (GRCm38)	V294L	probably benign	Het
Tnks	G	A	8: 34,940,861 (GRCm38)	R238C	probably benign	Het
Tsn	G	A	1: 118,305,214 (GRCm38)	T120I	probably damaging	Het
Txnrd1	T	A	10: 82,895,980 (GRCm38)	F479I	possibly damaging	Het
Ubr1	T	C	2: 120,915,407 (GRCm38)	M849V	probably benign	Het
Usp13	T	C	3: 32,911,589 (GRCm38)	S574P	probably damaging	Het
Vmn1r69	A	G	7: 10,580,508 (GRCm38)	Y20H	probably damaging	Het
Zfp780b	T	A	7: 27,964,827 (GRCm38)	N101I	probably damaging	Het

Other mutations in Btaf1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00392:Btaf1	APN	19	37,009,702 (GRCm38)	missense	probably damaging	1.00
IGL00535:Btaf1	APN	19	36,997,535 (GRCm38)	missense	probably damaging	1.00
IGL00574:Btaf1	APN	19	36,969,930 (GRCm38)	missense	probably benign	0.00
IGL00969:Btaf1	APN	19	37,011,252 (GRCm38)	splice site	probably benign
IGL01325:Btaf1	APN	19	37,004,649 (GRCm38)	splice site	probably benign
IGL01399:Btaf1	APN	19	37,000,170 (GRCm38)	nonsense	probably null
IGL02024:Btaf1	APN	19	36,992,426 (GRCm38)	splice site	probably benign
IGL02471:Btaf1	APN	19	37,000,192 (GRCm38)	missense	probably damaging	0.96
IGL02664:Btaf1	APN	19	36,978,428 (GRCm38)	splice site	probably benign
IGL02898:Btaf1	APN	19	36,969,068 (GRCm38)	missense	probably benign
IGL02995:Btaf1	APN	19	36,981,135 (GRCm38)	splice site	probably benign
IGL03023:Btaf1	APN	19	37,010,015 (GRCm38)	missense	possibly damaging	0.85
IGL03188:Btaf1	APN	19	36,949,108 (GRCm38)	missense	possibly damaging	0.91
IGL03353:Btaf1	APN	19	36,992,500 (GRCm38)	missense	probably damaging	1.00
freudenberg	UTSW	19	36,988,173 (GRCm38)	critical splice donor site	probably null
Galanos	UTSW	19	36,949,102 (GRCm38)	missense	probably damaging	1.00
3-1:Btaf1	UTSW	19	37,010,078 (GRCm38)	missense	probably damaging	1.00
R0013:Btaf1	UTSW	19	36,958,373 (GRCm38)	missense	probably benign
R0048:Btaf1	UTSW	19	37,003,524 (GRCm38)	missense	probably benign	0.01
R0117:Btaf1	UTSW	19	36,969,968 (GRCm38)	missense	probably benign	0.06
R0207:Btaf1	UTSW	19	37,009,648 (GRCm38)	nonsense	probably null
R0310:Btaf1	UTSW	19	37,004,534 (GRCm38)	missense	probably damaging	0.96
R0377:Btaf1	UTSW	19	36,989,002 (GRCm38)	missense	probably benign
R0419:Btaf1	UTSW	19	36,945,229 (GRCm38)	missense	probably damaging	0.99
R0440:Btaf1	UTSW	19	36,986,653 (GRCm38)	missense	probably damaging	0.99
R0532:Btaf1	UTSW	19	36,951,186 (GRCm38)	splice site	probably benign
R0612:Btaf1	UTSW	19	36,969,137 (GRCm38)	missense	probably damaging	0.99
R0731:Btaf1	UTSW	19	36,997,495 (GRCm38)	splice site	probably null
R0780:Btaf1	UTSW	19	36,988,922 (GRCm38)	missense	probably damaging	0.99
R0919:Btaf1	UTSW	19	36,990,743 (GRCm38)	missense	probably benign	0.03
R1104:Btaf1	UTSW	19	37,004,602 (GRCm38)	missense	probably damaging	1.00
R1263:Btaf1	UTSW	19	36,956,524 (GRCm38)	missense	probably benign	0.10
R1325:Btaf1	UTSW	19	36,969,162 (GRCm38)	missense	possibly damaging	0.68
R1447:Btaf1	UTSW	19	36,992,454 (GRCm38)	missense	probably benign	0.00
R1554:Btaf1	UTSW	19	36,996,598 (GRCm38)	missense	probably benign	0.02
R1649:Btaf1	UTSW	19	36,981,722 (GRCm38)	missense	probably benign
R1715:Btaf1	UTSW	19	36,969,121 (GRCm38)	missense	probably damaging	0.99
R1733:Btaf1	UTSW	19	36,994,962 (GRCm38)	missense	probably benign
R1764:Btaf1	UTSW	19	36,951,118 (GRCm38)	missense	probably benign	0.12
R1874:Btaf1	UTSW	19	36,980,583 (GRCm38)	missense	probably benign
R1911:Btaf1	UTSW	19	36,986,630 (GRCm38)	missense	probably benign
R1933:Btaf1	UTSW	19	36,972,957 (GRCm38)	missense	probably damaging	1.00
R2080:Btaf1	UTSW	19	36,951,148 (GRCm38)	missense	probably benign	0.09
R2483:Btaf1	UTSW	19	36,981,086 (GRCm38)	missense	probably benign	0.02
R2510:Btaf1	UTSW	19	37,002,445 (GRCm38)	missense	probably benign	0.08
R3623:Btaf1	UTSW	19	36,981,086 (GRCm38)	missense	probably benign	0.02
R3624:Btaf1	UTSW	19	36,981,086 (GRCm38)	missense	probably benign	0.02
R3801:Btaf1	UTSW	19	36,988,973 (GRCm38)	missense	probably benign	0.00
R3801:Btaf1	UTSW	19	36,986,548 (GRCm38)	missense	probably benign
R3802:Btaf1	UTSW	19	36,988,973 (GRCm38)	missense	probably benign	0.00
R3802:Btaf1	UTSW	19	36,986,548 (GRCm38)	missense	probably benign
R3803:Btaf1	UTSW	19	36,988,973 (GRCm38)	missense	probably benign	0.00
R3803:Btaf1	UTSW	19	36,986,548 (GRCm38)	missense	probably benign
R4077:Btaf1	UTSW	19	36,986,479 (GRCm38)	missense	probably benign	0.00
R4079:Btaf1	UTSW	19	36,986,479 (GRCm38)	missense	probably benign	0.00
R4133:Btaf1	UTSW	19	36,961,738 (GRCm38)	missense	probably benign	0.00
R4673:Btaf1	UTSW	19	36,978,372 (GRCm38)	missense	probably benign	0.00
R4731:Btaf1	UTSW	19	36,981,078 (GRCm38)	missense	probably benign	0.03
R4796:Btaf1	UTSW	19	36,956,428 (GRCm38)	missense	possibly damaging	0.95
R4824:Btaf1	UTSW	19	36,981,048 (GRCm38)	missense	possibly damaging	0.84
R4835:Btaf1	UTSW	19	37,002,458 (GRCm38)	missense	probably benign	0.00
R4837:Btaf1	UTSW	19	36,966,785 (GRCm38)	missense	probably benign
R4925:Btaf1	UTSW	19	37,011,333 (GRCm38)	missense	probably benign
R4968:Btaf1	UTSW	19	36,969,951 (GRCm38)	missense	probably null	0.71
R4976:Btaf1	UTSW	19	36,986,579 (GRCm38)	missense	probably benign
R5001:Btaf1	UTSW	19	36,986,652 (GRCm38)	missense	possibly damaging	0.90
R5037:Btaf1	UTSW	19	37,003,531 (GRCm38)	missense	probably damaging	1.00
R5039:Btaf1	UTSW	19	36,990,762 (GRCm38)	missense	probably benign
R5211:Btaf1	UTSW	19	36,996,562 (GRCm38)	missense	probably benign	0.32
R5422:Btaf1	UTSW	19	36,951,107 (GRCm38)	missense	probably benign	0.09
R5429:Btaf1	UTSW	19	36,994,857 (GRCm38)	missense	possibly damaging	0.58
R5530:Btaf1	UTSW	19	36,990,775 (GRCm38)	missense	possibly damaging	0.85
R5654:Btaf1	UTSW	19	36,983,615 (GRCm38)	missense	probably benign	0.35
R5744:Btaf1	UTSW	19	37,004,490 (GRCm38)	missense	probably benign	0.02
R6082:Btaf1	UTSW	19	36,983,542 (GRCm38)	missense	probably damaging	1.00
R6243:Btaf1	UTSW	19	36,981,120 (GRCm38)	missense	probably benign	0.02
R6291:Btaf1	UTSW	19	36,973,008 (GRCm38)	missense	probably benign	0.00
R6502:Btaf1	UTSW	19	36,983,617 (GRCm38)	missense	probably benign
R7034:Btaf1	UTSW	19	37,004,469 (GRCm38)	missense	probably benign
R7036:Btaf1	UTSW	19	37,004,469 (GRCm38)	missense	probably benign
R7085:Btaf1	UTSW	19	36,972,918 (GRCm38)	missense	probably benign
R7097:Btaf1	UTSW	19	36,949,102 (GRCm38)	missense	probably damaging	1.00
R7248:Btaf1	UTSW	19	36,945,314 (GRCm38)	missense	possibly damaging	0.54
R7386:Btaf1	UTSW	19	36,958,382 (GRCm38)	missense	probably benign	0.02
R7402:Btaf1	UTSW	19	37,003,515 (GRCm38)	missense	probably damaging	1.00
R7452:Btaf1	UTSW	19	36,969,127 (GRCm38)	missense	probably damaging	1.00
R7493:Btaf1	UTSW	19	37,009,605 (GRCm38)	missense	probably damaging	1.00
R7513:Btaf1	UTSW	19	36,978,403 (GRCm38)	missense	probably benign	0.30
R7888:Btaf1	UTSW	19	36,965,636 (GRCm38)	missense	probably benign	0.10
R7944:Btaf1	UTSW	19	36,949,165 (GRCm38)	missense	probably benign
R8062:Btaf1	UTSW	19	36,992,465 (GRCm38)	missense	probably benign	0.00
R8559:Btaf1	UTSW	19	36,986,873 (GRCm38)	missense	probably benign	0.00
R8793:Btaf1	UTSW	19	36,981,029 (GRCm38)	missense	probably benign	0.21
R8855:Btaf1	UTSW	19	36,958,501 (GRCm38)	missense	probably benign
R8866:Btaf1	UTSW	19	36,958,501 (GRCm38)	missense	probably benign
R9016:Btaf1	UTSW	19	36,994,305 (GRCm38)	missense	probably benign	0.00
R9028:Btaf1	UTSW	19	36,969,108 (GRCm38)	missense	probably damaging	1.00
R9109:Btaf1	UTSW	19	36,986,714 (GRCm38)	missense	probably benign
R9172:Btaf1	UTSW	19	37,000,230 (GRCm38)	missense	probably damaging	0.98
R9298:Btaf1	UTSW	19	36,986,714 (GRCm38)	missense	probably benign
R9717:Btaf1	UTSW	19	36,945,246 (GRCm38)	missense	probably benign	0.28
W0251:Btaf1	UTSW	19	37,003,504 (GRCm38)	missense	probably damaging	1.00
X0027:Btaf1	UTSW	19	36,949,096 (GRCm38)	nonsense	probably null
Z1088:Btaf1	UTSW	19	36,986,618 (GRCm38)	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- GGAATGCACCATACTGTCACC -3'
(R):5'- CTATGTCTTAGGGCAGAGGCAAAG -3'

Sequencing Primer
(F):5'- TACTGTCACCAAGCACAGGGG -3'
(R):5'- TGCATCCCTGTCCTGAAATAC -3'

Posted On

2016-10-26