Incidental Mutation 'R1874:Btaf1'
ID 211106
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 039896-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.963) question?
Stock # R1874 (G1)
Quality Score 225
Status Validated
Chromosome 19
Chromosomal Location 36926079-37012752 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) A to T at 36980583 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Methionine to Leucine at position 587 (M587L)
Ref Sequence ENSEMBL: ENSMUSP00000097093 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000099494]
AlphaFold E9QAE3
Predicted Effect probably benign
Transcript: ENSMUST00000099494
AA Change: M587L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000097093
Gene: ENSMUSG00000040565
AA Change: M587L

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
Meta Mutation Damage Score 0.0597 question?
Coding Region Coverage
  • 1x: 97.5%
  • 3x: 97.0%
  • 10x: 95.8%
  • 20x: 94.1%
Validation Efficiency 96% (105/109)
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: 104 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
AA986860 A G 1: 130,742,691 (GRCm38) S217G probably benign Het
Adrb3 C A 8: 27,227,563 (GRCm38) R286L probably damaging Het
Akap11 T A 14: 78,511,866 (GRCm38) D1027V probably benign Het
Ank3 A T 10: 69,898,083 (GRCm38) I726F probably damaging Het
Ankmy2 T A 12: 36,165,931 (GRCm38) D43E possibly damaging Het
Ankrd34b A G 13: 92,439,556 (GRCm38) D432G probably damaging Het
Ano3 A C 2: 110,884,872 (GRCm38) S74A probably benign Het
B4galnt4 T A 7: 141,070,526 (GRCm38) S769T probably damaging Het
Bicral T A 17: 46,825,178 (GRCm38) T369S probably benign Het
Blm A G 7: 80,497,418 (GRCm38) L738P probably damaging Het
Bpifb3 A G 2: 153,925,840 (GRCm38) T278A probably benign Het
Bpifb5 A G 2: 154,227,202 (GRCm38) probably benign Het
Brd8 G C 18: 34,610,474 (GRCm38) P266R probably damaging Het
Casz1 C G 4: 148,943,211 (GRCm38) T1015S probably damaging Het
Cdh23 A G 10: 60,436,818 (GRCm38) I524T possibly damaging Het
Celsr3 T C 9: 108,835,838 (GRCm38) V1825A probably benign Het
Cenpf A G 1: 189,683,816 (GRCm38) L104P probably damaging Het
Clasp1 G T 1: 118,600,585 (GRCm38) probably null Het
Coprs A G 8: 13,885,112 (GRCm38) W148R probably damaging Het
Cpne1 A G 2: 156,078,382 (GRCm38) S168P probably damaging Het
Cpxm2 T C 7: 132,059,834 (GRCm38) Y408C probably damaging Het
Ctnna3 A G 10: 63,504,107 (GRCm38) E24G possibly damaging Het
Cubn T A 2: 13,323,002 (GRCm38) S2671C probably damaging Het
Cyp4f39 T A 17: 32,483,324 (GRCm38) F265Y probably damaging Het
Dgkq C A 5: 108,660,595 (GRCm38) R34L probably benign Het
Dnajc7 C T 11: 100,599,313 (GRCm38) probably benign Het
Eml6 T G 11: 29,831,136 (GRCm38) D632A probably damaging Het
Fbxl18 G A 5: 142,886,223 (GRCm38) A419V probably damaging Het
Fbxw22 A T 9: 109,385,111 (GRCm38) C212* probably null Het
Ffar2 A G 7: 30,819,414 (GRCm38) probably null Het
Fga A T 3: 83,032,721 (GRCm38) T561S probably damaging Het
Fry A G 5: 150,345,921 (GRCm38) Y159C probably damaging Het
Gal3st1 A G 11: 3,998,231 (GRCm38) Y146C probably damaging Het
Gapvd1 A T 2: 34,706,021 (GRCm38) H788Q probably damaging Het
Gimap7 G A 6: 48,723,515 (GRCm38) V12I possibly damaging Het
Gli2 C A 1: 119,002,049 (GRCm38) A43S possibly damaging Het
Gm15446 T C 5: 109,942,553 (GRCm38) F224L probably damaging Het
Gm21738 C T 14: 19,418,824 (GRCm38) V35I possibly damaging Het
Grhl1 T C 12: 24,586,156 (GRCm38) probably benign Het
Grk6 T C 13: 55,450,273 (GRCm38) Y53H probably damaging Het
Hcar1 C T 5: 123,879,265 (GRCm38) R121K probably damaging Het
Hmcn1 A C 1: 150,720,695 (GRCm38) S1797A probably damaging Het
Hsd17b7 A T 1: 169,955,993 (GRCm38) L282Q possibly damaging Het
Irs1 TTCTCTGAGTGGCCACAGCGTCT TTCT 1: 82,289,853 (GRCm38) probably null Het
Kif1b C T 4: 149,187,632 (GRCm38) V1571I probably benign Het
Lpl T A 8: 68,896,619 (GRCm38) C266S probably damaging Het
Mag G A 7: 30,909,051 (GRCm38) H213Y probably benign Het
Mansc4 T G 6: 147,075,190 (GRCm38) R309S probably benign Het
Mlh3 A G 12: 85,237,513 (GRCm38) probably null Het
Mndal G A 1: 173,860,367 (GRCm38) probably benign Het
Mrgpra2b T A 7: 47,463,994 (GRCm38) E330V probably damaging Het
Myh3 A G 11: 67,093,179 (GRCm38) I990V probably benign Het
Myoz2 A T 3: 123,026,116 (GRCm38) S65T probably damaging Het
Naa16 T C 14: 79,355,743 (GRCm38) E463G possibly damaging Het
Nadsyn1 A G 7: 143,797,844 (GRCm38) F684S probably damaging Het
Notch1 T C 2: 26,481,579 (GRCm38) E286G possibly damaging Het
Nynrin A T 14: 55,863,493 (GRCm38) I247L probably benign Het
Olfr136 C T 17: 38,335,969 (GRCm38) P271S probably damaging Het
Olfr644 T C 7: 104,068,129 (GRCm38) I301V probably null Het
Olfr981 T A 9: 40,022,855 (GRCm38) I154N possibly damaging Het
Oprm1 A G 10: 6,789,035 (GRCm38) H54R probably benign Het
P4hb C T 11: 120,562,166 (GRCm38) D483N probably benign Het
Pak1 T C 7: 97,871,580 (GRCm38) S149P probably benign Het
Pars2 T C 4: 106,653,716 (GRCm38) F232L possibly damaging Het
Pih1d2 A G 9: 50,620,945 (GRCm38) M88V possibly damaging Het
Pms1 A T 1: 53,207,233 (GRCm38) N382K probably benign Het
Pnliprp2 G T 19: 58,763,389 (GRCm38) V189L probably benign Het
Pole G A 5: 110,323,664 (GRCm38) V1425M possibly damaging Het
Pot1b T A 17: 55,654,805 (GRCm38) Q591L probably benign Het
Ppp1r9a C T 6: 4,906,348 (GRCm38) T301M possibly damaging Het
Psg21 T C 7: 18,650,816 (GRCm38) E335G probably benign Het
Ptpru T A 4: 131,769,755 (GRCm38) M1416L probably benign Het
Pxn T C 5: 115,544,990 (GRCm38) V117A probably damaging Het
Qsox1 C T 1: 155,812,639 (GRCm38) R54H possibly damaging Het
Rad1 A G 15: 10,488,006 (GRCm38) E42G probably damaging Het
Rpp14 A G 14: 8,090,145 (GRCm38) Y23C probably benign Het
Sdk2 C T 11: 113,834,956 (GRCm38) V1156I probably benign Het
Serpina3j G T 12: 104,319,699 (GRCm38) R371L probably benign Het
Serpinb9d T A 13: 33,197,963 (GRCm38) probably null Het
Sirt5 C T 13: 43,370,791 (GRCm38) S13F possibly damaging Het
Slc6a7 T A 18: 61,001,398 (GRCm38) probably benign Het
Slx4 A G 16: 3,986,848 (GRCm38) S701P probably benign Het
Snx29 A G 16: 11,367,681 (GRCm38) T43A probably benign Het
Speg T C 1: 75,423,906 (GRCm38) V2570A probably benign Het
Srrm4 T A 5: 116,453,506 (GRCm38) probably benign Het
Stk32a A G 18: 43,261,316 (GRCm38) Y110C probably damaging Het
Tbc1d31 G A 15: 57,916,110 (GRCm38) G73E probably benign Het
Thsd7a A T 6: 12,555,435 (GRCm38) I150N possibly damaging Het
Tjp1 A T 7: 65,319,253 (GRCm38) D699E probably damaging Het
Tmem143 A G 7: 45,916,564 (GRCm38) D437G possibly damaging Het
Tmem45a2 A G 16: 57,047,084 (GRCm38) Y85H possibly damaging Het
Tmem45b T A 9: 31,429,087 (GRCm38) T7S probably damaging Het
Ube4b A G 4: 149,347,971 (GRCm38) L832P probably damaging Het
Ugp2 G T 11: 21,329,048 (GRCm38) F379L probably damaging Het
Ugt3a2 A T 15: 9,365,351 (GRCm38) D350V probably damaging Het
Vmn2r8 T A 5: 108,802,418 (GRCm38) T188S possibly damaging Het
Vwa7 C G 17: 35,017,112 (GRCm38) P14R probably benign Het
Vwc2 C A 11: 11,261,495 (GRCm38) T317K probably damaging Het
Vwf A T 6: 125,628,372 (GRCm38) Q906L probably benign Het
Wdr49 A G 3: 75,429,347 (GRCm38) V351A probably damaging Het
Wdr7 A G 18: 63,728,504 (GRCm38) S196G probably benign Het
Xkr6 C A 14: 63,798,296 (GRCm38) A26E unknown Het
Zcchc11 T A 4: 108,550,725 (GRCm38) V1397D probably damaging Het
Zfp955b T C 17: 33,305,453 (GRCm38) I47V probably benign Het
Other mutations in Btaf1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00392:Btaf1 APN 19 37,009,702 (GRCm38) missense probably damaging 1.00
IGL00535:Btaf1 APN 19 36,997,535 (GRCm38) missense probably damaging 1.00
IGL00574:Btaf1 APN 19 36,969,930 (GRCm38) missense probably benign 0.00
IGL00969:Btaf1 APN 19 37,011,252 (GRCm38) splice site probably benign
IGL01325:Btaf1 APN 19 37,004,649 (GRCm38) splice site probably benign
IGL01399:Btaf1 APN 19 37,000,170 (GRCm38) nonsense probably null
IGL02024:Btaf1 APN 19 36,992,426 (GRCm38) splice site probably benign
IGL02471:Btaf1 APN 19 37,000,192 (GRCm38) missense probably damaging 0.96
IGL02664:Btaf1 APN 19 36,978,428 (GRCm38) splice site probably benign
IGL02898:Btaf1 APN 19 36,969,068 (GRCm38) missense probably benign
IGL02995:Btaf1 APN 19 36,981,135 (GRCm38) splice site probably benign
IGL03023:Btaf1 APN 19 37,010,015 (GRCm38) missense possibly damaging 0.85
IGL03188:Btaf1 APN 19 36,949,108 (GRCm38) missense possibly damaging 0.91
IGL03353:Btaf1 APN 19 36,992,500 (GRCm38) missense probably damaging 1.00
freudenberg UTSW 19 36,988,173 (GRCm38) critical splice donor site probably null
Galanos UTSW 19 36,949,102 (GRCm38) missense probably damaging 1.00
3-1:Btaf1 UTSW 19 37,010,078 (GRCm38) missense probably damaging 1.00
R0013:Btaf1 UTSW 19 36,958,373 (GRCm38) missense probably benign
R0048:Btaf1 UTSW 19 37,003,524 (GRCm38) missense probably benign 0.01
R0117:Btaf1 UTSW 19 36,969,968 (GRCm38) missense probably benign 0.06
R0207:Btaf1 UTSW 19 37,009,648 (GRCm38) nonsense probably null
R0310:Btaf1 UTSW 19 37,004,534 (GRCm38) missense probably damaging 0.96
R0377:Btaf1 UTSW 19 36,989,002 (GRCm38) missense probably benign
R0419:Btaf1 UTSW 19 36,945,229 (GRCm38) missense probably damaging 0.99
R0440:Btaf1 UTSW 19 36,986,653 (GRCm38) missense probably damaging 0.99
R0532:Btaf1 UTSW 19 36,951,186 (GRCm38) splice site probably benign
R0612:Btaf1 UTSW 19 36,969,137 (GRCm38) missense probably damaging 0.99
R0731:Btaf1 UTSW 19 36,997,495 (GRCm38) splice site probably null
R0780:Btaf1 UTSW 19 36,988,922 (GRCm38) missense probably damaging 0.99
R0919:Btaf1 UTSW 19 36,990,743 (GRCm38) missense probably benign 0.03
R1104:Btaf1 UTSW 19 37,004,602 (GRCm38) missense probably damaging 1.00
R1263:Btaf1 UTSW 19 36,956,524 (GRCm38) missense probably benign 0.10
R1325:Btaf1 UTSW 19 36,969,162 (GRCm38) missense possibly damaging 0.68
R1447:Btaf1 UTSW 19 36,992,454 (GRCm38) missense probably benign 0.00
R1554:Btaf1 UTSW 19 36,996,598 (GRCm38) missense probably benign 0.02
R1649:Btaf1 UTSW 19 36,981,722 (GRCm38) missense probably benign
R1715:Btaf1 UTSW 19 36,969,121 (GRCm38) missense probably damaging 0.99
R1733:Btaf1 UTSW 19 36,994,962 (GRCm38) missense probably benign
R1764:Btaf1 UTSW 19 36,951,118 (GRCm38) missense probably benign 0.12
R1911:Btaf1 UTSW 19 36,986,630 (GRCm38) missense probably benign
R1933:Btaf1 UTSW 19 36,972,957 (GRCm38) missense probably damaging 1.00
R2080:Btaf1 UTSW 19 36,951,148 (GRCm38) missense probably benign 0.09
R2483:Btaf1 UTSW 19 36,981,086 (GRCm38) missense probably benign 0.02
R2510:Btaf1 UTSW 19 37,002,445 (GRCm38) missense probably benign 0.08
R3623:Btaf1 UTSW 19 36,981,086 (GRCm38) missense probably benign 0.02
R3624:Btaf1 UTSW 19 36,981,086 (GRCm38) missense probably benign 0.02
R3801:Btaf1 UTSW 19 36,988,973 (GRCm38) missense probably benign 0.00
R3801:Btaf1 UTSW 19 36,986,548 (GRCm38) missense probably benign
R3802:Btaf1 UTSW 19 36,988,973 (GRCm38) missense probably benign 0.00
R3802:Btaf1 UTSW 19 36,986,548 (GRCm38) missense probably benign
R3803:Btaf1 UTSW 19 36,988,973 (GRCm38) missense probably benign 0.00
R3803:Btaf1 UTSW 19 36,986,548 (GRCm38) missense probably benign
R4077:Btaf1 UTSW 19 36,986,479 (GRCm38) missense probably benign 0.00
R4079:Btaf1 UTSW 19 36,986,479 (GRCm38) missense probably benign 0.00
R4133:Btaf1 UTSW 19 36,961,738 (GRCm38) missense probably benign 0.00
R4673:Btaf1 UTSW 19 36,978,372 (GRCm38) missense probably benign 0.00
R4731:Btaf1 UTSW 19 36,981,078 (GRCm38) missense probably benign 0.03
R4796:Btaf1 UTSW 19 36,956,428 (GRCm38) missense possibly damaging 0.95
R4824:Btaf1 UTSW 19 36,981,048 (GRCm38) missense possibly damaging 0.84
R4835:Btaf1 UTSW 19 37,002,458 (GRCm38) missense probably benign 0.00
R4837:Btaf1 UTSW 19 36,966,785 (GRCm38) missense probably benign
R4925:Btaf1 UTSW 19 37,011,333 (GRCm38) missense probably benign
R4968:Btaf1 UTSW 19 36,969,951 (GRCm38) missense probably null 0.71
R4976:Btaf1 UTSW 19 36,986,579 (GRCm38) missense probably benign
R5001:Btaf1 UTSW 19 36,986,652 (GRCm38) missense possibly damaging 0.90
R5037:Btaf1 UTSW 19 37,003,531 (GRCm38) missense probably damaging 1.00
R5039:Btaf1 UTSW 19 36,990,762 (GRCm38) missense probably benign
R5211:Btaf1 UTSW 19 36,996,562 (GRCm38) missense probably benign 0.32
R5422:Btaf1 UTSW 19 36,951,107 (GRCm38) missense probably benign 0.09
R5429:Btaf1 UTSW 19 36,994,857 (GRCm38) missense possibly damaging 0.58
R5530:Btaf1 UTSW 19 36,990,775 (GRCm38) missense possibly damaging 0.85
R5582:Btaf1 UTSW 19 36,988,173 (GRCm38) critical splice donor site probably null
R5654:Btaf1 UTSW 19 36,983,615 (GRCm38) missense probably benign 0.35
R5744:Btaf1 UTSW 19 37,004,490 (GRCm38) missense probably benign 0.02
R6082:Btaf1 UTSW 19 36,983,542 (GRCm38) missense probably damaging 1.00
R6243:Btaf1 UTSW 19 36,981,120 (GRCm38) missense probably benign 0.02
R6291:Btaf1 UTSW 19 36,973,008 (GRCm38) missense probably benign 0.00
R6502:Btaf1 UTSW 19 36,983,617 (GRCm38) missense probably benign
R7034:Btaf1 UTSW 19 37,004,469 (GRCm38) missense probably benign
R7036:Btaf1 UTSW 19 37,004,469 (GRCm38) missense probably benign
R7085:Btaf1 UTSW 19 36,972,918 (GRCm38) missense probably benign
R7097:Btaf1 UTSW 19 36,949,102 (GRCm38) missense probably damaging 1.00
R7248:Btaf1 UTSW 19 36,945,314 (GRCm38) missense possibly damaging 0.54
R7386:Btaf1 UTSW 19 36,958,382 (GRCm38) missense probably benign 0.02
R7402:Btaf1 UTSW 19 37,003,515 (GRCm38) missense probably damaging 1.00
R7452:Btaf1 UTSW 19 36,969,127 (GRCm38) missense probably damaging 1.00
R7493:Btaf1 UTSW 19 37,009,605 (GRCm38) missense probably damaging 1.00
R7513:Btaf1 UTSW 19 36,978,403 (GRCm38) missense probably benign 0.30
R7888:Btaf1 UTSW 19 36,965,636 (GRCm38) missense probably benign 0.10
R7944:Btaf1 UTSW 19 36,949,165 (GRCm38) missense probably benign
R8062:Btaf1 UTSW 19 36,992,465 (GRCm38) missense probably benign 0.00
R8559:Btaf1 UTSW 19 36,986,873 (GRCm38) missense probably benign 0.00
R8793:Btaf1 UTSW 19 36,981,029 (GRCm38) missense probably benign 0.21
R8855:Btaf1 UTSW 19 36,958,501 (GRCm38) missense probably benign
R8866:Btaf1 UTSW 19 36,958,501 (GRCm38) missense probably benign
R9016:Btaf1 UTSW 19 36,994,305 (GRCm38) missense probably benign 0.00
R9028:Btaf1 UTSW 19 36,969,108 (GRCm38) missense probably damaging 1.00
R9109:Btaf1 UTSW 19 36,986,714 (GRCm38) missense probably benign
R9172:Btaf1 UTSW 19 37,000,230 (GRCm38) missense probably damaging 0.98
R9298:Btaf1 UTSW 19 36,986,714 (GRCm38) missense probably benign
R9717:Btaf1 UTSW 19 36,945,246 (GRCm38) missense probably benign 0.28
W0251:Btaf1 UTSW 19 37,003,504 (GRCm38) missense probably damaging 1.00
X0027:Btaf1 UTSW 19 36,949,096 (GRCm38) nonsense probably null
Z1088:Btaf1 UTSW 19 36,986,618 (GRCm38) missense probably damaging 0.99
Predicted Primers PCR Primer
(F):5'- TCGGTGCTCTTAACCACTG -3'
(R):5'- GCTGAACACAGAAATACCACGTTTC -3'

Sequencing Primer
(F):5'- TGAACCATCTCTCCAGGCG -3'
(R):5'- AGAAATACCACGTTTCTCTACCC -3'
Posted On 2014-06-30