Mutagenetix > Incidental Mutation

Incidental Mutation 'R0419:Btaf1'

177937

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

038621-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.967) question?

Stock #

R0419 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

36903479-36990152 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 36922629 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Asparagine at position 11 (I11N)

Ref Sequence

ENSEMBL: ENSMUSP00000097093 (fasta)

Gene Model

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

AlphaFold

E9QAE3

Predicted Effect

probably damaging
Transcript: ENSMUST00000099494
AA Change: I11N

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000097093
Gene: ENSMUSG00000040565
AA Change: I11N

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

0.5071

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.9%
20x: 94.8%

Validation Efficiency

98% (54/55)

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
1700029H14Rik	T	C	8: 13,601,842 (GRCm39)		probably benign	Het
5730507C01Rik	A	T	12: 18,583,424 (GRCm39)	R161S	possibly damaging	Het
Adamts5	T	C	16: 85,663,530 (GRCm39)	I735V	probably benign	Het
Arid1a	G	T	4: 133,408,435 (GRCm39)	P2024Q	unknown	Het
Ascc3	G	T	10: 50,625,022 (GRCm39)	V1637L	probably benign	Het
B3galt4	T	C	17: 34,169,764 (GRCm39)	Y158C	probably damaging	Het
BC049715	A	G	6: 136,817,143 (GRCm39)	T128A	possibly damaging	Het
Cfb	T	C	17: 35,077,485 (GRCm39)	I496V	probably damaging	Het
Chd8	A	T	14: 52,441,517 (GRCm39)	H858Q	probably benign	Het
Chrne	T	C	11: 70,506,549 (GRCm39)	I324V	probably benign	Het
Clec14a	T	C	12: 58,314,451 (GRCm39)	I390M	probably damaging	Het
Cpsf3	A	G	12: 21,347,800 (GRCm39)	Y207C	probably damaging	Het
Cubn	A	C	2: 13,474,574 (GRCm39)	I410S	possibly damaging	Het
Cubn	T	A	2: 13,474,575 (GRCm39)	I410F	possibly damaging	Het
Dlc1	T	C	8: 37,050,740 (GRCm39)	E997G	possibly damaging	Het
Emilin1	G	T	5: 31,072,366 (GRCm39)	V71F	probably damaging	Het
Esrp2	T	C	8: 106,861,307 (GRCm39)	E164G	probably damaging	Het
Fars2	A	G	13: 36,721,285 (GRCm39)	T410A	probably benign	Het
Fat3	A	G	9: 15,903,552 (GRCm39)	V2981A	probably damaging	Het
Fkbp15	G	A	4: 62,244,373 (GRCm39)	T472I	probably benign	Het
Gm6871	A	G	7: 41,222,869 (GRCm39)	V73A	probably benign	Het
Gnl2	T	G	4: 124,947,320 (GRCm39)	S647R	probably benign	Het
Grb10	T	C	11: 11,884,207 (GRCm39)	I500V	possibly damaging	Het
Herc1	T	C	9: 66,353,356 (GRCm39)		probably benign	Het
Iqgap2	A	C	13: 95,826,207 (GRCm39)		probably null	Het
Kcnu1	A	T	8: 26,427,646 (GRCm39)	N321I	probably benign	Het
Kif23	G	A	9: 61,833,687 (GRCm39)	R519*	probably null	Het
Klhl1	C	T	14: 96,619,225 (GRCm39)	R224Q	probably benign	Het
Lama1	T	C	17: 68,098,605 (GRCm39)		probably null	Het
Lamp3	T	C	16: 19,492,302 (GRCm39)	Y314C	probably damaging	Het
Lamtor5	C	A	3: 107,189,227 (GRCm39)	R88S	probably damaging	Het
Nbea	G	T	3: 55,726,715 (GRCm39)	A2088E	probably benign	Het
Neo1	A	G	9: 58,897,463 (GRCm39)		probably benign	Het
Ntn4	A	T	10: 93,518,291 (GRCm39)	R199S	probably benign	Het
Or5ap2	A	T	2: 85,680,311 (GRCm39)	R172*	probably null	Het
Plekho2	A	G	9: 65,464,334 (GRCm39)	S172P	possibly damaging	Het
Pmp2	T	C	3: 10,245,823 (GRCm39)	Y129C	probably damaging	Het
Prss3b	T	C	6: 41,011,281 (GRCm39)	N34D	probably benign	Het
Ralgapa2	A	T	2: 146,270,592 (GRCm39)	M578K	possibly damaging	Het
Ranbp3	C	T	17: 57,015,219 (GRCm39)	T307M	possibly damaging	Het
Serpinb11	G	A	1: 107,304,590 (GRCm39)	W185*	probably null	Het
Setdb2	A	T	14: 59,644,193 (GRCm39)		probably null	Het
Sirpb1b	A	T	3: 15,613,656 (GRCm39)	V75E	probably damaging	Het
Slc13a1	A	T	6: 24,100,292 (GRCm39)	L397Q	probably damaging	Het
Slc19a1	T	A	10: 76,878,742 (GRCm39)	I355N	probably damaging	Het
Slc51a	T	A	16: 32,295,254 (GRCm39)	I275F	possibly damaging	Het
Spink14	T	C	18: 44,164,934 (GRCm39)	S84P	probably damaging	Het
Stx2	A	G	5: 129,070,641 (GRCm39)		probably benign	Het
Tgfbi	G	T	13: 56,780,006 (GRCm39)		probably benign	Het
Tshr	T	A	12: 91,504,643 (GRCm39)	M527K	probably damaging	Het
Upb1	T	C	10: 75,248,717 (GRCm39)	V79A	probably damaging	Het
Zdhhc5	A	T	2: 84,521,587 (GRCm39)		probably null	Het
Zfp11	C	T	5: 129,735,302 (GRCm39)	G53E	possibly damaging	Het
Zfp280d	T	C	9: 72,219,519 (GRCm39)	V32A	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
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
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'- TCTTCTTCCTTGAGAGGAAAGATAGGCA -3'
(R):5'- GACCCCAAGGTCACTTAGGACGAT -3'

Sequencing Primer
(F):5'- ccgcctgcctctgcttc -3'
(R):5'- GGTCACTTAGGACGATTTTTACC -3'

Posted On

2014-05-02