Mutagenetix > Incidental Mutation

Incidental Mutation 'R3801:Btaf1'

273024

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

040760-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.967) question?

Stock #

R3801 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

36903479-36990152 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 36966373 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Leucine at position 1047 (H1047L)

Ref Sequence

ENSEMBL: ENSMUSP00000097093 (fasta)

Gene Model

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

AlphaFold

E9QAE3

Predicted Effect

probably benign
Transcript: ENSMUST00000099494
AA Change: H1047L

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000097093
Gene: ENSMUSG00000040565
AA Change: H1047L

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

0.0669

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.2%
20x: 95.0%

Validation Efficiency

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: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700011L22Rik	C	T	8: 79,974,922 (GRCm39)	E54K	probably benign	Het
Als2	A	C	1: 59,206,358 (GRCm39)	M1634R	probably damaging	Het
Ankfy1	T	C	11: 72,640,246 (GRCm39)	S531P	probably benign	Het
Atp6v1e1	A	G	6: 120,778,020 (GRCm39)	Y172H	probably benign	Het
Brd1	C	T	15: 88,601,243 (GRCm39)	V464M	probably damaging	Het
Cacnb2	A	G	2: 14,829,074 (GRCm39)	D3G	possibly damaging	Het
Capn13	G	A	17: 73,646,396 (GRCm39)	P339L	probably benign	Het
Cgrrf1	G	T	14: 47,069,820 (GRCm39)	G30C	probably damaging	Het
Crnkl1	T	C	2: 145,761,715 (GRCm39)	D614G	probably benign	Het
Cyp2c23	C	T	19: 43,995,478 (GRCm39)	V430I	probably benign	Het
Dazl	G	A	17: 50,588,309 (GRCm39)	R289W	probably benign	Het
Dsg1b	C	T	18: 20,523,260 (GRCm39)	P96S	probably damaging	Het
Dusp14	A	G	11: 83,939,535 (GRCm39)	S169P	possibly damaging	Het
Egfem1	A	G	3: 29,206,075 (GRCm39)	D91G	probably benign	Het
Eif1	A	G	11: 100,211,650 (GRCm39)	K95E	probably damaging	Het
Fap	C	T	2: 62,376,994 (GRCm39)	V191I	probably benign	Het
Flnc	T	C	6: 29,447,403 (GRCm39)	Y1069H	probably damaging	Het
Fndc7	T	C	3: 108,776,464 (GRCm39)	T526A	possibly damaging	Het
Fras1	A	T	5: 96,881,791 (GRCm39)	T2508S	probably benign	Het
Gast	T	C	11: 100,227,636 (GRCm39)	S73P	probably damaging	Het
Grap2	A	G	15: 80,507,947 (GRCm39)	T4A	possibly damaging	Het
Grm8	T	G	6: 28,125,635 (GRCm39)	N164H	possibly damaging	Het
Hyal5	A	T	6: 24,876,523 (GRCm39)	H132L	probably benign	Het
Iqcm	C	A	8: 76,396,021 (GRCm39)	T188K	possibly damaging	Het
Kank4	A	G	4: 98,668,370 (GRCm39)	S26P	probably damaging	Het
Lipo3	C	T	19: 33,762,257 (GRCm39)	C80Y	probably damaging	Het
Lrrk2	A	G	15: 91,621,314 (GRCm39)	R963G	probably benign	Het
Lrtm2	G	A	6: 119,294,444 (GRCm39)	T229I	probably damaging	Het
Mb21d2	A	T	16: 28,646,755 (GRCm39)	D406E	possibly damaging	Het
Meikin	T	A	11: 54,290,697 (GRCm39)		probably null	Het
Mybl1	A	T	1: 9,743,439 (GRCm39)	F538I	probably damaging	Het
Nectin2	T	C	7: 19,451,561 (GRCm39)	D491G	probably benign	Het
Nf1	A	G	11: 79,450,347 (GRCm39)	D511G	probably null	Het
Nid2	T	C	14: 19,860,065 (GRCm39)	C1328R	probably damaging	Het
Nlrp1a	T	A	11: 71,013,529 (GRCm39)	M574L	probably benign	Het
Nrap	C	T	19: 56,310,211 (GRCm39)	D1595N	probably damaging	Het
Nrg3	G	A	14: 38,098,391 (GRCm39)	P496S	probably damaging	Het
Or4k41	A	T	2: 111,279,910 (GRCm39)	I142F	probably benign	Het
Pak3	G	A	X: 142,492,727 (GRCm39)	V87I	probably damaging	Het
Phf8	T	C	X: 150,355,572 (GRCm39)	S512P	possibly damaging	Het
Phkb	G	T	8: 86,648,858 (GRCm39)	E225*	probably null	Het
Plaa	T	C	4: 94,458,125 (GRCm39)	D615G	probably damaging	Het
Prdm12	A	G	2: 31,541,959 (GRCm39)	K223E	probably damaging	Het
Prkd1	C	A	12: 50,430,205 (GRCm39)	R634L	possibly damaging	Het
Rassf3	T	A	10: 121,250,271 (GRCm39)	I181F	possibly damaging	Het
Samd8	G	A	14: 21,825,133 (GRCm39)	V30M	probably damaging	Het
Sema4f	A	T	6: 82,895,608 (GRCm39)	H308Q	possibly damaging	Het
Skint4	G	T	4: 111,975,378 (GRCm39)	V113L	probably damaging	Het
Slc16a10	G	C	10: 39,932,620 (GRCm39)	H314D	possibly damaging	Het
Slpi	A	G	2: 164,198,158 (GRCm39)	L12P	probably damaging	Het
Smco1	A	G	16: 32,092,716 (GRCm39)	Y129C	probably benign	Het
Spag17	A	G	3: 99,961,169 (GRCm39)	K985R	possibly damaging	Het
Stc1	T	C	14: 69,275,924 (GRCm39)	I239T	probably benign	Het
Suclg2	A	T	6: 95,474,649 (GRCm39)	I372N	probably damaging	Het
Tmed4	C	A	11: 6,224,233 (GRCm39)	V80F	probably damaging	Het
Tnpo2	T	A	8: 85,781,800 (GRCm39)		probably null	Het
Top1	A	G	2: 160,544,688 (GRCm39)	H268R	probably damaging	Het
Triobp	A	T	15: 78,857,900 (GRCm39)	Q1167L	probably benign	Het
Txndc16	G	A	14: 45,388,809 (GRCm39)	P536L	possibly damaging	Het
Usp13	C	T	3: 32,935,657 (GRCm39)	A360V	possibly damaging	Het
Vhl	G	A	6: 113,606,423 (GRCm39)	V147I	probably benign	Het
Vldlr	A	T	19: 27,195,021 (GRCm39)	T3S	probably damaging	Het
Vps54	T	A	11: 21,218,832 (GRCm39)	D130E	probably benign	Het
Zfp808	T	A	13: 62,319,897 (GRCm39)	H375Q	probably damaging	Het
Zfp87	A	T	13: 67,669,334 (GRCm39)	N37K	probably damaging	Het

Other mutations in Btaf1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00392:Btaf1	APN	19	36,987,102 (GRCm39)	missense	probably damaging	1.00
IGL00535:Btaf1	APN	19	36,974,935 (GRCm39)	missense	probably damaging	1.00
IGL00574:Btaf1	APN	19	36,947,330 (GRCm39)	missense	probably benign	0.00
IGL00969:Btaf1	APN	19	36,988,652 (GRCm39)	splice site	probably benign
IGL01325:Btaf1	APN	19	36,982,049 (GRCm39)	splice site	probably benign
IGL01399:Btaf1	APN	19	36,977,570 (GRCm39)	nonsense	probably null
IGL02024:Btaf1	APN	19	36,969,826 (GRCm39)	splice site	probably benign
IGL02471:Btaf1	APN	19	36,977,592 (GRCm39)	missense	probably damaging	0.96
IGL02664:Btaf1	APN	19	36,955,828 (GRCm39)	splice site	probably benign
IGL02898:Btaf1	APN	19	36,946,468 (GRCm39)	missense	probably benign
IGL02995:Btaf1	APN	19	36,958,535 (GRCm39)	splice site	probably benign
IGL03023:Btaf1	APN	19	36,987,415 (GRCm39)	missense	possibly damaging	0.85
IGL03188:Btaf1	APN	19	36,926,508 (GRCm39)	missense	possibly damaging	0.91
IGL03353:Btaf1	APN	19	36,969,900 (GRCm39)	missense	probably damaging	1.00
freudenberg	UTSW	19	36,965,573 (GRCm39)	critical splice donor site	probably null
Galanos	UTSW	19	36,926,502 (GRCm39)	missense	probably damaging	1.00
3-1:Btaf1	UTSW	19	36,987,478 (GRCm39)	missense	probably damaging	1.00
R0013:Btaf1	UTSW	19	36,935,773 (GRCm39)	missense	probably benign
R0048:Btaf1	UTSW	19	36,980,924 (GRCm39)	missense	probably benign	0.01
R0117:Btaf1	UTSW	19	36,947,368 (GRCm39)	missense	probably benign	0.06
R0207:Btaf1	UTSW	19	36,987,048 (GRCm39)	nonsense	probably null
R0310:Btaf1	UTSW	19	36,981,934 (GRCm39)	missense	probably damaging	0.96
R0377:Btaf1	UTSW	19	36,966,402 (GRCm39)	missense	probably benign
R0419:Btaf1	UTSW	19	36,922,629 (GRCm39)	missense	probably damaging	0.99
R0440:Btaf1	UTSW	19	36,964,053 (GRCm39)	missense	probably damaging	0.99
R0532:Btaf1	UTSW	19	36,928,586 (GRCm39)	splice site	probably benign
R0612:Btaf1	UTSW	19	36,946,537 (GRCm39)	missense	probably damaging	0.99
R0731:Btaf1	UTSW	19	36,974,895 (GRCm39)	splice site	probably null
R0780:Btaf1	UTSW	19	36,966,322 (GRCm39)	missense	probably damaging	0.99
R0919:Btaf1	UTSW	19	36,968,143 (GRCm39)	missense	probably benign	0.03
R1104:Btaf1	UTSW	19	36,982,002 (GRCm39)	missense	probably damaging	1.00
R1263:Btaf1	UTSW	19	36,933,924 (GRCm39)	missense	probably benign	0.10
R1325:Btaf1	UTSW	19	36,946,562 (GRCm39)	missense	possibly damaging	0.68
R1447:Btaf1	UTSW	19	36,969,854 (GRCm39)	missense	probably benign	0.00
R1554:Btaf1	UTSW	19	36,973,998 (GRCm39)	missense	probably benign	0.02
R1649:Btaf1	UTSW	19	36,959,122 (GRCm39)	missense	probably benign
R1715:Btaf1	UTSW	19	36,946,521 (GRCm39)	missense	probably damaging	0.99
R1733:Btaf1	UTSW	19	36,972,362 (GRCm39)	missense	probably benign
R1764:Btaf1	UTSW	19	36,928,518 (GRCm39)	missense	probably benign	0.12
R1874:Btaf1	UTSW	19	36,957,983 (GRCm39)	missense	probably benign
R1911:Btaf1	UTSW	19	36,964,030 (GRCm39)	missense	probably benign
R1933:Btaf1	UTSW	19	36,950,357 (GRCm39)	missense	probably damaging	1.00
R2080:Btaf1	UTSW	19	36,928,548 (GRCm39)	missense	probably benign	0.09
R2483:Btaf1	UTSW	19	36,958,486 (GRCm39)	missense	probably benign	0.02
R2510:Btaf1	UTSW	19	36,979,845 (GRCm39)	missense	probably benign	0.08
R3623:Btaf1	UTSW	19	36,958,486 (GRCm39)	missense	probably benign	0.02
R3624:Btaf1	UTSW	19	36,958,486 (GRCm39)	missense	probably benign	0.02
R3801:Btaf1	UTSW	19	36,963,948 (GRCm39)	missense	probably benign
R3802:Btaf1	UTSW	19	36,966,373 (GRCm39)	missense	probably benign	0.00
R3802:Btaf1	UTSW	19	36,963,948 (GRCm39)	missense	probably benign
R3803:Btaf1	UTSW	19	36,966,373 (GRCm39)	missense	probably benign	0.00
R3803:Btaf1	UTSW	19	36,963,948 (GRCm39)	missense	probably benign
R4077:Btaf1	UTSW	19	36,963,879 (GRCm39)	missense	probably benign	0.00
R4079:Btaf1	UTSW	19	36,963,879 (GRCm39)	missense	probably benign	0.00
R4133:Btaf1	UTSW	19	36,939,138 (GRCm39)	missense	probably benign	0.00
R4673:Btaf1	UTSW	19	36,955,772 (GRCm39)	missense	probably benign	0.00
R4731:Btaf1	UTSW	19	36,958,478 (GRCm39)	missense	probably benign	0.03
R4796:Btaf1	UTSW	19	36,933,828 (GRCm39)	missense	possibly damaging	0.95
R4824:Btaf1	UTSW	19	36,958,448 (GRCm39)	missense	possibly damaging	0.84
R4835:Btaf1	UTSW	19	36,979,858 (GRCm39)	missense	probably benign	0.00
R4837:Btaf1	UTSW	19	36,944,185 (GRCm39)	missense	probably benign
R4925:Btaf1	UTSW	19	36,988,733 (GRCm39)	missense	probably benign
R4968:Btaf1	UTSW	19	36,947,351 (GRCm39)	missense	probably null	0.71
R4976:Btaf1	UTSW	19	36,963,979 (GRCm39)	missense	probably benign
R5001:Btaf1	UTSW	19	36,964,052 (GRCm39)	missense	possibly damaging	0.90
R5037:Btaf1	UTSW	19	36,980,931 (GRCm39)	missense	probably damaging	1.00
R5039:Btaf1	UTSW	19	36,968,162 (GRCm39)	missense	probably benign
R5211:Btaf1	UTSW	19	36,973,962 (GRCm39)	missense	probably benign	0.32
R5422:Btaf1	UTSW	19	36,928,507 (GRCm39)	missense	probably benign	0.09
R5429:Btaf1	UTSW	19	36,972,257 (GRCm39)	missense	possibly damaging	0.58
R5530:Btaf1	UTSW	19	36,968,175 (GRCm39)	missense	possibly damaging	0.85
R5582:Btaf1	UTSW	19	36,965,573 (GRCm39)	critical splice donor site	probably null
R5654:Btaf1	UTSW	19	36,961,015 (GRCm39)	missense	probably benign	0.35
R5744:Btaf1	UTSW	19	36,981,890 (GRCm39)	missense	probably benign	0.02
R6082:Btaf1	UTSW	19	36,960,942 (GRCm39)	missense	probably damaging	1.00
R6243:Btaf1	UTSW	19	36,958,520 (GRCm39)	missense	probably benign	0.02
R6291:Btaf1	UTSW	19	36,950,408 (GRCm39)	missense	probably benign	0.00
R6502:Btaf1	UTSW	19	36,961,017 (GRCm39)	missense	probably benign
R7034:Btaf1	UTSW	19	36,981,869 (GRCm39)	missense	probably benign
R7036:Btaf1	UTSW	19	36,981,869 (GRCm39)	missense	probably benign
R7085:Btaf1	UTSW	19	36,950,318 (GRCm39)	missense	probably benign
R7097:Btaf1	UTSW	19	36,926,502 (GRCm39)	missense	probably damaging	1.00
R7248:Btaf1	UTSW	19	36,922,714 (GRCm39)	missense	possibly damaging	0.54
R7386:Btaf1	UTSW	19	36,935,782 (GRCm39)	missense	probably benign	0.02
R7402:Btaf1	UTSW	19	36,980,915 (GRCm39)	missense	probably damaging	1.00
R7452:Btaf1	UTSW	19	36,946,527 (GRCm39)	missense	probably damaging	1.00
R7493:Btaf1	UTSW	19	36,987,005 (GRCm39)	missense	probably damaging	1.00
R7513:Btaf1	UTSW	19	36,955,803 (GRCm39)	missense	probably benign	0.30
R7888:Btaf1	UTSW	19	36,943,036 (GRCm39)	missense	probably benign	0.10
R7944:Btaf1	UTSW	19	36,926,565 (GRCm39)	missense	probably benign
R8062:Btaf1	UTSW	19	36,969,865 (GRCm39)	missense	probably benign	0.00
R8559:Btaf1	UTSW	19	36,964,273 (GRCm39)	missense	probably benign	0.00
R8793:Btaf1	UTSW	19	36,958,429 (GRCm39)	missense	probably benign	0.21
R8855:Btaf1	UTSW	19	36,935,901 (GRCm39)	missense	probably benign
R8866:Btaf1	UTSW	19	36,935,901 (GRCm39)	missense	probably benign
R9016:Btaf1	UTSW	19	36,971,705 (GRCm39)	missense	probably benign	0.00
R9028:Btaf1	UTSW	19	36,946,508 (GRCm39)	missense	probably damaging	1.00
R9109:Btaf1	UTSW	19	36,964,114 (GRCm39)	missense	probably benign
R9172:Btaf1	UTSW	19	36,977,630 (GRCm39)	missense	probably damaging	0.98
R9298:Btaf1	UTSW	19	36,964,114 (GRCm39)	missense	probably benign
R9717:Btaf1	UTSW	19	36,922,646 (GRCm39)	missense	probably benign	0.28
W0251:Btaf1	UTSW	19	36,980,904 (GRCm39)	missense	probably damaging	1.00
X0027:Btaf1	UTSW	19	36,926,496 (GRCm39)	nonsense	probably null
Z1088:Btaf1	UTSW	19	36,964,018 (GRCm39)	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- ACTGGTGACTGTCTTTAGAAATAGC -3'
(R):5'- CTGCACTTAAAAGCAACTGAAGAG -3'

Sequencing Primer
(F):5'- AAATCTAGTTAGGAGTTTTAGGCCTG -3'
(R):5'- GCAGCTTTCTTTGAAAAGG -3'

Posted On

2015-03-25