Incidental Mutation 'R7402:Btaf1'
ID 574308
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 045484-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.967) question?
Stock # R7402 (G1)
Quality Score 225.009
Status Not validated
Chromosome 19
Chromosomal Location 36903479-36990152 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 36980915 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Tyrosine at position 1579 (N1579Y)
Ref Sequence ENSEMBL: ENSMUSP00000097093 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000099494]
AlphaFold E9QAE3
Predicted Effect probably damaging
Transcript: ENSMUST00000099494
AA Change: N1579Y

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000097093
Gene: ENSMUSG00000040565
AA Change: N1579Y

DomainStartEndE-ValueType
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: 99.3%
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: 98 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc4 G T 14: 118,943,487 (GRCm39) P12Q probably damaging Het
Acsf3 A G 8: 123,507,163 (GRCm39) Y152C probably damaging Het
Adam22 T A 5: 8,145,049 (GRCm39) Q803L possibly damaging Het
Adamtsl3 G A 7: 82,227,825 (GRCm39) V1337I probably damaging Het
Adra1b T C 11: 43,666,845 (GRCm39) D464G possibly damaging Het
Alpk3 T A 7: 80,726,660 (GRCm39) I115K probably benign Het
Amdhd2 A G 17: 24,380,657 (GRCm39) S96P Het
Ankib1 T G 5: 3,819,586 (GRCm39) D111A probably benign Het
Arhgef2 A G 3: 88,540,873 (GRCm39) D216G probably damaging Het
Astn1 A T 1: 158,380,425 (GRCm39) probably benign Het
Atosa C A 9: 74,913,668 (GRCm39) Y107* probably null Het
Atrn T A 2: 130,789,520 (GRCm39) W328R probably damaging Het
Atxn7 A T 14: 14,095,427 (GRCm38) H375L probably damaging Het
Cacna1b A T 2: 24,497,671 (GRCm39) L2079Q probably benign Het
Ccdc102a T C 8: 95,629,981 (GRCm39) K520R probably damaging Het
Cd2ap T C 17: 43,116,054 (GRCm39) H602R possibly damaging Het
Cdkn2aip A G 8: 48,164,408 (GRCm39) V435A possibly damaging Het
Cenpf A T 1: 189,391,575 (GRCm39) Y735* probably null Het
Cep350 T A 1: 155,803,961 (GRCm39) I1041L probably benign Het
Ckap4 A G 10: 84,363,863 (GRCm39) V400A probably damaging Het
Comp T A 8: 70,829,854 (GRCm39) D359E probably benign Het
Coq10b A C 1: 55,100,500 (GRCm39) K61N probably benign Het
Csmd2 G A 4: 128,215,889 (GRCm39) S548N Het
Csmd2 A C 4: 128,215,888 (GRCm39) S548R Het
Ctif A G 18: 75,744,807 (GRCm39) I99T probably benign Het
Ctns T G 11: 73,083,903 (GRCm39) T40P possibly damaging Het
Cyp11b1 C T 15: 74,712,674 (GRCm39) R129H probably damaging Het
Cyp2c68 A T 19: 39,729,318 (GRCm39) N56K probably benign Het
D6Wsu163e A G 6: 126,938,968 (GRCm39) K401R probably damaging Het
Dstn T A 2: 143,780,368 (GRCm39) C23S probably benign Het
Fam72a A T 1: 131,466,613 (GRCm39) E132D probably damaging Het
Fam72a G T 1: 131,466,614 (GRCm39) E133* probably null Het
Gbp8 T A 5: 105,179,161 (GRCm39) I113F probably damaging Het
Gm3095 A T 14: 15,170,332 (GRCm39) R60S possibly damaging Het
Gpa33 A T 1: 165,980,263 (GRCm39) M109L probably damaging Het
Grik2 A G 10: 49,411,493 (GRCm39) L215P probably damaging Het
Gucy2g A C 19: 55,194,725 (GRCm39) F897L probably damaging Het
Hinfp A G 9: 44,209,314 (GRCm39) L295P probably damaging Het
Ift122 T C 6: 115,871,283 (GRCm39) V526A probably benign Het
Ighv5-12 T C 12: 113,665,853 (GRCm39) T82A probably benign Het
Il18rap T A 1: 40,564,111 (GRCm39) S76R probably benign Het
Itga6 A T 2: 71,683,897 (GRCm39) N1045I probably benign Het
Kctd21 A T 7: 96,996,970 (GRCm39) I148F possibly damaging Het
Kif28 T A 1: 179,567,644 (GRCm39) H42L probably benign Het
Kmt2c A C 5: 25,600,418 (GRCm39) C326W probably damaging Het
Knl1 T A 2: 118,925,707 (GRCm39) L1912* probably null Het
Lrfn1 A T 7: 28,158,947 (GRCm39) I289F probably damaging Het
Lrriq1 T C 10: 103,057,185 (GRCm39) K205R possibly damaging Het
Mbd5 A T 2: 49,147,566 (GRCm39) N592I probably damaging Het
Mbl2 A G 19: 30,216,802 (GRCm39) N205D possibly damaging Het
Mcm4 C A 16: 15,455,042 (GRCm39) M1I probably null Het
Mgat4a T A 1: 37,493,865 (GRCm39) H327L probably damaging Het
Miox A G 15: 89,219,206 (GRCm39) D16G probably benign Het
Mvk C A 5: 114,594,039 (GRCm39) P298Q possibly damaging Het
Nol6 A G 4: 41,118,699 (GRCm39) L726P probably damaging Het
Nos1 T C 5: 118,087,880 (GRCm39) I1381T probably benign Het
Nup98 A T 7: 101,784,144 (GRCm39) S1063T probably benign Het
Obscn T G 11: 58,886,275 (GRCm39) M7862L unknown Het
Obsl1 T C 1: 75,464,348 (GRCm39) T1653A probably benign Het
Odr4 A G 1: 150,262,107 (GRCm39) probably null Het
Or4c105 G T 2: 88,647,687 (GRCm39) M57I probably damaging Het
Or8g53 T A 9: 39,683,260 (GRCm39) T279S probably benign Het
Or8u9 A G 2: 86,001,546 (GRCm39) I205T probably benign Het
Or9q2 C T 19: 13,772,358 (GRCm39) V206I probably damaging Het
Pcdhb20 A G 18: 37,638,005 (GRCm39) Y177C probably benign Het
Pcdhb3 A C 18: 37,434,657 (GRCm39) I208L probably benign Het
Phlpp1 G T 1: 106,317,420 (GRCm39) G1214W probably damaging Het
Ppp4r3a A T 12: 101,025,053 (GRCm39) S149T possibly damaging Het
Pxdn T C 12: 30,052,438 (GRCm39) C872R probably damaging Het
Rarb A G 14: 16,548,419 (GRCm38) C101R probably damaging Het
Rcor3 A C 1: 191,812,283 (GRCm39) V114G probably benign Het
Rnpepl1 A G 1: 92,847,372 (GRCm39) Q653R probably benign Het
Rpap2 T A 5: 107,768,324 (GRCm39) Y387* probably null Het
Rttn C T 18: 89,004,035 (GRCm39) T343M possibly damaging Het
Samd11 T C 4: 156,333,230 (GRCm39) T333A probably benign Het
Six5 T C 7: 18,828,968 (GRCm39) L136P probably damaging Het
Slc12a5 T A 2: 164,824,852 (GRCm39) M419K probably benign Het
Slc22a21 T C 11: 53,851,226 (GRCm39) M179V probably benign Het
Slc35a4 A G 18: 36,813,570 (GRCm39) D6G unknown Het
Spdye4c A T 2: 128,434,261 (GRCm39) M1L probably benign Het
Svep1 A T 4: 58,069,699 (GRCm39) C2696S possibly damaging Het
Tceanc2 T C 4: 107,004,893 (GRCm39) N85S probably benign Het
Teddm2 G C 1: 153,726,344 (GRCm39) L124V probably benign Het
Teddm2 A T 1: 153,726,343 (GRCm39) L124Q probably damaging Het
Tgfbr1 T A 4: 47,405,623 (GRCm39) W409R probably damaging Het
Tkt A G 14: 30,280,755 (GRCm39) D62G probably damaging Het
Tnrc6b T A 15: 80,768,501 (GRCm39) V1054D probably damaging Het
Trpm7 C A 2: 126,641,126 (GRCm39) L1564F probably damaging Het
Vmn1r43 A T 6: 89,846,803 (GRCm39) C228S probably benign Het
Vmn2r106 T C 17: 20,487,883 (GRCm39) R839G probably damaging Het
Vmn2r5 G A 3: 64,403,176 (GRCm39) T523I probably benign Het
Vwa3b C T 1: 37,153,678 (GRCm39) Q507* probably null Het
Wrn C G 8: 33,738,994 (GRCm39) W1278S probably benign Het
Zfp281 T G 1: 136,553,190 (GRCm39) L56R probably damaging Het
Zfp407 G A 18: 84,579,661 (GRCm39) T484I probably benign Het
Zfp451 T C 1: 33,852,843 (GRCm39) T24A probably benign Het
Zfp607b T A 7: 27,392,919 (GRCm39) F16I probably damaging Het
Zfp638 T A 6: 83,905,670 (GRCm39) V41E possibly damaging Het
Other mutations in Btaf1
AlleleSourceChrCoordTypePredicted EffectPPH 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
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'- GTAGGTTCTGAGATCTGAGCTC -3'
(R):5'- CTTTGGGAAAAGCAACGTGTTC -3'

Sequencing Primer
(F):5'- CTGAGATCTGAGCTCTGGGC -3'
(R):5'- GGAAAAGCAACGTGTTCTAGTATTAG -3'
Posted On 2019-09-13