Mutagenetix > Incidental Mutation

Incidental Mutation 'R9172:Btaf1'

696509

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

Accession Numbers

Essential gene?

Probably essential (E-score: 0.967) question?

Stock #

R9172 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

36903479-36990152 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 36977630 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Threonine at position 1483 (A1483T)

Ref Sequence

ENSEMBL: ENSMUSP00000097093 (fasta)

Gene Model

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

AlphaFold

E9QAE3

Predicted Effect

probably damaging
Transcript: ENSMUST00000099494
AA Change: A1483T

PolyPhen 2 Score 0.978 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000097093
Gene: ENSMUSG00000040565
AA Change: A1483T

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: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.2%

Validation Efficiency

100% (63/63)

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: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Accsl	A	T	2: 93,691,833 (GRCm39)	L332Q	probably damaging	Het
Adcy1	A	G	11: 7,110,317 (GRCm39)	N855D	probably damaging	Het
Adgrl3	T	A	5: 81,922,251 (GRCm39)	C1199S	probably benign	Het
Alyref	G	A	11: 120,486,842 (GRCm39)	R140C	probably benign	Het
Arhgap26	A	T	18: 39,378,382 (GRCm39)	I92F	probably damaging	Het
Atp9b	G	A	18: 80,960,993 (GRCm39)	R73*	probably null	Het
Cmtr2	T	C	8: 110,948,761 (GRCm39)	L357P	probably damaging	Het
Commd7	A	T	2: 153,470,474 (GRCm39)	L51Q	possibly damaging	Het
Cpd	T	A	11: 76,675,252 (GRCm39)	I1290L	probably benign	Het
Cry2	C	A	2: 92,243,993 (GRCm39)	E393D	probably damaging	Het
Ctsm	A	T	13: 61,685,643 (GRCm39)	M74K		Het
Dnai7	A	G	6: 145,123,175 (GRCm39)	F564L	probably benign	Het
Dync2h1	T	C	9: 7,031,771 (GRCm39)	Y3491C	probably damaging	Het
Erc1	A	C	6: 119,801,842 (GRCm39)	N58K	possibly damaging	Het
Fbxw21	T	C	9: 108,975,764 (GRCm39)	T211A	probably benign	Het
Fcsk	A	G	8: 111,610,557 (GRCm39)	W949R	probably damaging	Het
Fry	T	C	5: 150,336,793 (GRCm39)	V1388A	probably benign	Het
Gca	T	G	2: 62,520,368 (GRCm39)	I176S	probably damaging	Het
Gimap7	A	T	6: 48,700,761 (GRCm39)	K116*	probably null	Het
Gm40460	ACAACCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAG	ACAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAG	7: 141,794,447 (GRCm39)		probably benign	Het
Gm9195	A	C	14: 72,711,154 (GRCm39)	L428R	probably damaging	Het
Grin2b	A	G	6: 135,756,255 (GRCm39)	I490T	possibly damaging	Het
Kif24	T	C	4: 41,400,442 (GRCm39)	T499A	probably benign	Het
Mbtps1	G	A	8: 120,260,108 (GRCm39)	T413I	probably damaging	Het
Med4	A	T	14: 73,751,365 (GRCm39)	S105C	probably benign	Het
Mgat1	G	A	11: 49,151,910 (GRCm39)	R131Q	probably damaging	Het
Mroh4	T	C	15: 74,477,961 (GRCm39)	*984W	probably null	Het
Mybpc1	T	C	10: 88,379,615 (GRCm39)	E628G	possibly damaging	Het
Myh8	C	T	11: 67,183,260 (GRCm39)	P713L	possibly damaging	Het
Myo7a	T	C	7: 97,732,369 (GRCm39)	D706G	probably benign	Het
Nbas	T	A	12: 13,424,751 (GRCm39)	C997S	possibly damaging	Het
Nkx2-1	C	A	12: 56,581,752 (GRCm39)	G32C	probably damaging	Het
Npas3	A	G	12: 54,112,653 (GRCm39)	T466A	probably benign	Het
Opa1	C	T	16: 29,439,232 (GRCm39)	R683C	probably benign	Het
Opa3	C	T	7: 18,989,466 (GRCm39)	R110C	probably damaging	Het
Or5p63	T	C	7: 107,811,169 (GRCm39)	E189G	probably benign	Het
Or8k38	T	A	2: 86,487,879 (GRCm39)	I308L	probably benign	Het
Ppfibp2	T	A	7: 107,337,525 (GRCm39)	L609*	probably null	Het
Pygo2	T	A	3: 89,340,617 (GRCm39)	D338E	possibly damaging	Het
Pzp	A	T	6: 128,502,172 (GRCm39)	M59K	probably benign	Het
Reln	A	G	5: 22,155,815 (GRCm39)		probably null	Het
Ripor1	A	G	8: 106,347,833 (GRCm39)	D1097G	unknown	Het
Rmdn3	T	C	2: 118,968,863 (GRCm39)	K443E	probably benign	Het
Rnf145	A	G	11: 44,448,262 (GRCm39)	D373G	possibly damaging	Het
Sec23b	A	T	2: 144,401,179 (GRCm39)	E13D	probably benign	Het
Semp2l1	G	T	1: 32,585,165 (GRCm39)	H248Q	probably benign	Het
Slc39a6	A	G	18: 24,715,399 (GRCm39)	F707S	probably damaging	Het
Sox11	G	A	12: 27,391,536 (GRCm39)	A291V	possibly damaging	Het
Spart	T	A	3: 55,032,267 (GRCm39)	V367D	possibly damaging	Het
Spata31e3	A	G	13: 50,401,417 (GRCm39)	F303S	probably benign	Het
Strap	A	T	6: 137,718,365 (GRCm39)	K156N	probably benign	Het
Stxbp5	T	A	10: 9,645,152 (GRCm39)	I951F	possibly damaging	Het
Taar7a	T	C	10: 23,868,677 (GRCm39)	I235V	probably benign	Het
Tek	T	A	4: 94,692,583 (GRCm39)	N230K	probably benign	Het
Tyw1	T	A	5: 130,325,520 (GRCm39)	C469*	probably null	Het
Vcan	T	C	13: 89,828,050 (GRCm39)	H3132R	probably damaging	Het
Vmn2r24	A	G	6: 123,783,432 (GRCm39)	D544G	probably damaging	Het
Vmn2r3	A	T	3: 64,186,403 (GRCm39)	M94K	possibly damaging	Het
Vps33a	T	C	5: 123,674,604 (GRCm39)	T388A	probably benign	Het
Vta1	A	G	10: 14,551,743 (GRCm39)	I152T	probably damaging	Het
Vtcn1	A	G	3: 100,799,865 (GRCm39)	D242G	probably benign	Het
Zfp12	T	A	5: 143,231,220 (GRCm39)	C548S	probably damaging	Het
Zfp263	A	G	16: 3,567,323 (GRCm39)	D546G	probably benign	Het
Zfp324	T	A	7: 12,704,689 (GRCm39)	C293S	probably damaging	Het
Zfp747l1	T	C	7: 126,984,626 (GRCm39)	K159E	probably benign	Het
Zscan4c	A	T	7: 10,743,819 (GRCm39)	I473F	possibly 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	36,966,373 (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
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'- GCTGCTGAGGTTTCTGAAGAAG -3'
(R):5'- GGAAGATCCTGCAAAACATCTTC -3'

Sequencing Primer
(F):5'- GACCTGCTAGGAAATGATACTTGCC -3'
(R):5'- CATCTTCTTTCATTCTTCTGAGAAGG -3'

Posted On

2022-02-07