Mutagenetix > Incidental Mutation

Incidental Mutation 'R4968:Btaf1'

384236

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

042564-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.967) question?

Stock #

R4968 (G1)

Quality Score

147

Status

Not validated

Chromosome

Chromosomal Location

36903479-36990152 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 36947351 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Glutamine at position 480 (L480Q)

Ref Sequence

ENSEMBL: ENSMUSP00000097093 (fasta)

Gene Model

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

AlphaFold

E9QAE3

Predicted Effect

probably null
Transcript: ENSMUST00000099494
AA Change: L480Q

PolyPhen 2 Score 0.709 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000097093
Gene: ENSMUSG00000040565
AA Change: L480Q

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

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.7%
20x: 93.6%

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: 69 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2810021J22Rik	A	T	11: 58,769,616 (GRCm39)	K53*	probably null	Het
4921513D11Rik	T	C	17: 79,935,651 (GRCm39)	S255P	probably benign	Het
Ace	A	G	11: 105,872,679 (GRCm39)	N367S	possibly damaging	Het
Agl	A	T	3: 116,582,175 (GRCm39)	N282K	probably benign	Het
Ahnak	C	A	19: 8,992,464 (GRCm39)	P4583T	probably damaging	Het
Alpi	T	C	1: 87,029,247 (GRCm39)	D4G	probably benign	Het
Anks6	C	T	4: 47,030,795 (GRCm39)	G601S	probably damaging	Het
Aplnr	T	C	2: 84,967,289 (GRCm39)	Y105H	probably damaging	Het
Arhgap9	G	A	10: 127,162,875 (GRCm39)	R395K	possibly damaging	Het
Asah1	A	G	8: 41,807,067 (GRCm39)	M119T		Het
Atp5f1b	T	C	10: 127,919,856 (GRCm39)	F75L	probably damaging	Het
B4galt6	G	T	18: 20,861,026 (GRCm39)	N75K	possibly damaging	Het
Bco1	A	T	8: 117,857,833 (GRCm39)	H486L	probably benign	Het
Ccdc34	G	T	2: 109,871,078 (GRCm39)		probably null	Het
Cdh19	T	C	1: 110,852,958 (GRCm39)	S326G	probably benign	Het
Cep89	A	G	7: 35,109,055 (GRCm39)	D178G	possibly damaging	Het
Cyp11b2	A	T	15: 74,725,854 (GRCm39)		probably null	Het
Cyp21a1	A	G	17: 35,022,383 (GRCm39)	I157T	possibly damaging	Het
Dcbld2	A	G	16: 58,245,074 (GRCm39)	D116G	probably damaging	Het
Ddx5	T	C	11: 106,674,953 (GRCm39)	Q377R	probably damaging	Het
Deup1	T	C	9: 15,503,724 (GRCm39)	D279G	probably damaging	Het
F11	G	A	8: 45,698,770 (GRCm39)	A458V	probably benign	Het
Fhad1	C	A	4: 141,645,618 (GRCm39)	G326W	probably damaging	Het
Fhit	C	T	14: 10,421,522 (GRCm38)	V26M	probably damaging	Het
Gjb5	A	T	4: 127,250,015 (GRCm39)	V43E	probably damaging	Het
Grtp1	A	T	8: 13,242,184 (GRCm39)	I75N	probably damaging	Het
Hmcn1	A	G	1: 150,533,221 (GRCm39)	I3022T	possibly damaging	Het
Hsp90ab1	T	C	17: 45,881,962 (GRCm39)	T166A	probably benign	Het
Ift70b	T	C	2: 75,768,391 (GRCm39)	I121V	probably benign	Het
Iho1	C	T	9: 108,289,713 (GRCm39)	V170M	probably benign	Het
Ikbke	GCC	G	1: 131,203,004 (GRCm39)		probably null	Het
Kcnk10	T	C	12: 98,401,161 (GRCm39)	I491V	probably benign	Het
Kcp	A	T	6: 29,497,628 (GRCm39)	C519*	probably null	Het
Lcmt2	T	C	2: 120,970,217 (GRCm39)	T69A	probably benign	Het
Lmf1	A	G	17: 25,804,592 (GRCm39)	Y90C	probably damaging	Het
Lpp	A	G	16: 24,798,064 (GRCm39)	D612G	probably damaging	Het
Lrfn5	C	A	12: 61,886,461 (GRCm39)	S83Y	probably damaging	Het
Lrp1b	T	C	2: 40,592,719 (GRCm39)		probably null	Het
Lrp1b	C	T	2: 41,679,074 (GRCm39)	C6Y	probably damaging	Het
Lrrc8c	A	G	5: 105,754,993 (GRCm39)	D256G	probably damaging	Het
Mphosph10	A	G	7: 64,032,656 (GRCm39)	Y478H	probably damaging	Het
Mpp2	T	C	11: 101,955,124 (GRCm39)	H167R	probably benign	Het
Mtss1	A	G	15: 58,815,767 (GRCm39)	S598P	probably damaging	Het
Myh10	A	G	11: 68,684,049 (GRCm39)	E1154G	probably damaging	Het
Myo10	T	C	15: 25,808,270 (GRCm39)	V1218A	probably damaging	Het
Myo19	A	G	11: 84,792,328 (GRCm39)	K599R	probably damaging	Het
Neurl4	T	C	11: 69,798,134 (GRCm39)	M771T	probably damaging	Het
Nlrc4	A	G	17: 74,753,936 (GRCm39)	V149A	probably benign	Het
Nup133	A	T	8: 124,641,935 (GRCm39)	S843T	probably benign	Het
Or2y1c	T	C	11: 49,361,358 (GRCm39)	C127R	probably damaging	Het
Or51k1	T	C	7: 103,661,777 (GRCm39)	N44S	probably damaging	Het
P3h2	A	G	16: 25,811,412 (GRCm39)		probably null	Het
Piezo2	A	T	18: 63,278,042 (GRCm39)	Y287*	probably null	Het
Prob1	T	C	18: 35,785,605 (GRCm39)	Y883C	probably damaging	Het
Pxdn	T	A	12: 30,050,011 (GRCm39)	H506Q	probably benign	Het
Ripor3	T	C	2: 167,827,037 (GRCm39)	D658G	probably benign	Het
Rufy1	T	A	11: 50,301,434 (GRCm39)	I333L	probably benign	Het
Selenok	T	A	14: 29,692,064 (GRCm39)	V34E	probably benign	Het
Selplg	T	C	5: 113,957,787 (GRCm39)	E173G	possibly damaging	Het
Septin10	A	G	10: 59,016,943 (GRCm39)	F194L	probably damaging	Het
Sptbn2	A	T	19: 4,779,230 (GRCm39)		probably null	Het
St6galnac6	C	T	2: 32,498,098 (GRCm39)	P6S	probably benign	Het
Syngr2	T	C	11: 117,704,296 (GRCm39)	Y194H	probably damaging	Het
Thbs4	A	G	13: 92,894,576 (GRCm39)	I649T	possibly damaging	Het
Triobp	T	A	15: 78,850,816 (GRCm39)	N323K	probably benign	Het
Tuba8	T	A	6: 121,197,548 (GRCm39)	L70Q	probably damaging	Het
Vmn2r61	A	G	7: 41,949,478 (GRCm39)	T633A	probably benign	Het
Zfp280b	G	T	10: 75,875,188 (GRCm39)	V356L	probably damaging	Het
Zswim4	A	T	8: 84,944,001 (GRCm39)	V746D	probably benign	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	36,966,373 (GRCm39)	missense	probably benign	0.00
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
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'- AAAGTCGAGCTGAGTGGCAC -3'
(R):5'- AGCACTGTTCTTTAAAGGTGC -3'

Sequencing Primer
(F):5'- ACAAATTGTGTCTTCTCCTTGATG -3'
(R):5'- GCACTGTTCTTTAAAGGTGCTAAAC -3'

Posted On

2016-04-27