Incidental Mutation 'R4824:Btaf1'
ID 374281
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 042440-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.967) question?
Stock # R4824 (G1)
Quality Score 225
Status Validated
Chromosome 19
Chromosomal Location 36903479-36990152 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 36958448 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Cysteine at position 655 (Y655C)
Ref Sequence ENSEMBL: ENSMUSP00000097093 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000099494]
AlphaFold E9QAE3
Predicted Effect possibly damaging
Transcript: ENSMUST00000099494
AA Change: Y655C

PolyPhen 2 Score 0.840 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000097093
Gene: ENSMUSG00000040565
AA Change: Y655C

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 0.1869 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.5%
  • 10x: 96.8%
  • 20x: 94.0%
Validation Efficiency 98% (123/126)
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: 107 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1110002E22Rik A G 3: 137,771,437 (GRCm39) T209A probably benign Het
1700086D15Rik T C 11: 65,043,441 (GRCm39) probably benign Het
A130010J15Rik G A 1: 192,856,965 (GRCm39) V106I probably benign Het
Abca16 C A 7: 120,074,702 (GRCm39) N580K possibly damaging Het
Actrt2 A T 4: 154,751,344 (GRCm39) F264Y probably damaging Het
Adh4 G A 3: 138,134,807 (GRCm39) S327N possibly damaging Het
Alkbh5 T C 11: 60,444,697 (GRCm39) probably null Het
Anapc1 T A 2: 128,470,610 (GRCm39) T1507S possibly damaging Het
Anapc2 A G 2: 25,167,764 (GRCm39) R444G probably damaging Het
Apoh G T 11: 108,305,087 (GRCm39) W335L probably benign Het
B4galt7 A T 13: 55,752,162 (GRCm39) H71L possibly damaging Het
Bicd2 A G 13: 49,532,488 (GRCm39) E358G probably damaging Het
Bmper T A 9: 23,134,956 (GRCm39) V7D possibly damaging Het
Brca2 T C 5: 150,463,200 (GRCm39) F988S probably damaging Het
Brix1 A G 15: 10,485,828 (GRCm39) V49A possibly damaging Het
Brpf3 T C 17: 29,025,460 (GRCm39) S178P probably benign Het
C1rl C G 6: 124,486,040 (GRCm39) Y470* probably null Het
Cacnb4 A G 2: 52,565,822 (GRCm39) V21A probably benign Het
Caskin1 C A 17: 24,720,103 (GRCm39) P437T probably benign Het
Casz1 C A 4: 149,029,028 (GRCm39) P1158T probably damaging Het
Ccdc141 T A 2: 76,954,680 (GRCm39) Q189L probably damaging Het
Ccr3 T C 9: 123,828,809 (GRCm39) V48A probably damaging Het
Cebpd G A 16: 15,705,978 (GRCm39) G264S probably benign Het
Cert1 C T 13: 96,752,995 (GRCm39) P350S probably benign Het
Cfap20dc A T 14: 8,665,997 (GRCm38) M1K probably null Het
Chd1 C A 17: 15,953,386 (GRCm39) S440R probably damaging Het
Clip1 T A 5: 123,769,086 (GRCm39) E504D probably damaging Het
Cmya5 T C 13: 93,230,082 (GRCm39) R1669G probably benign Het
Col11a2 T A 17: 34,269,937 (GRCm39) F456I probably damaging Het
Ctnna2 A T 6: 76,957,764 (GRCm39) M130K probably damaging Het
Elmo2 A T 2: 165,133,922 (GRCm39) probably benign Het
F11 T C 8: 45,708,379 (GRCm39) D27G probably damaging Het
Faap100 A T 11: 120,266,412 (GRCm39) probably null Het
Fat1 A G 8: 45,442,151 (GRCm39) E1151G probably damaging Het
Fbll1 T A 11: 35,688,652 (GRCm39) I204F probably damaging Het
Gle1 T A 2: 29,830,215 (GRCm39) V257D possibly damaging Het
Hoxc9 T A 15: 102,890,225 (GRCm39) C47* probably null Het
Hsd17b6 A G 10: 127,829,524 (GRCm39) V226A probably benign Het
Hsd17b7 C T 1: 169,788,764 (GRCm39) R151Q probably benign Het
Hsh2d G A 8: 72,954,304 (GRCm39) D229N probably benign Het
Ido2 A G 8: 25,023,875 (GRCm39) I321T probably benign Het
Irf2bp2 T C 8: 127,318,172 (GRCm39) T465A probably benign Het
Kdm2a A G 19: 4,412,815 (GRCm39) M34T probably damaging Het
Klhl6 C T 16: 19,775,778 (GRCm39) R260H probably damaging Het
Kntc1 T A 5: 123,928,196 (GRCm39) L1231* probably null Het
Lca5l A C 16: 95,963,229 (GRCm39) Y412* probably null Het
Lipt1 T C 1: 37,914,513 (GRCm39) S190P possibly damaging Het
Ly6f T A 15: 75,143,569 (GRCm39) V92D probably damaging Het
Matn4 T A 2: 164,235,151 (GRCm39) M433L probably benign Het
Mbtd1 C A 11: 93,816,528 (GRCm39) P370T probably benign Het
Mcph1 T A 8: 18,682,703 (GRCm39) probably null Het
Muc5b T A 7: 141,417,922 (GRCm39) C3623S probably damaging Het
Myt1l C A 12: 29,899,399 (GRCm39) H134N probably benign Het
Nav2 A T 7: 49,058,749 (GRCm39) probably benign Het
Ndufaf8 T C 11: 119,989,992 (GRCm39) C35R probably damaging Het
Neb G A 2: 52,094,891 (GRCm39) T5130I possibly damaging Het
Nlrp9c T C 7: 26,079,989 (GRCm39) N624S possibly damaging Het
Nr0b2 C A 4: 133,283,334 (GRCm39) H190Q probably damaging Het
Nrg4 A G 9: 55,156,405 (GRCm39) probably benign Het
Nup88 A T 11: 70,852,450 (GRCm39) V215E probably benign Het
Oas2 T G 5: 120,876,411 (GRCm39) T511P probably benign Het
Or1e25 A G 11: 73,493,426 (GRCm39) T7A possibly damaging Het
Or2t6 A G 14: 14,175,885 (GRCm38) S66P probably damaging Het
Or5d14 A C 2: 87,880,432 (GRCm39) F179V probably damaging Het
Or5w8 T C 2: 87,687,621 (GRCm39) V34A probably benign Het
Or8g26 A G 9: 39,095,501 (GRCm39) N9S probably benign Het
Or9q1 A C 19: 13,805,718 (GRCm39) L14R probably damaging Het
Pcdhgb2 T A 18: 37,823,502 (GRCm39) N164K probably damaging Het
Pde4d C G 13: 109,253,400 (GRCm39) P76A probably benign Het
Phlda1 T C 10: 111,343,516 (GRCm39) probably benign Het
Plekhh1 A G 12: 79,101,577 (GRCm39) T216A probably benign Het
Plppr3 T A 10: 79,701,507 (GRCm39) E445V possibly damaging Het
Prom1 A G 5: 44,191,732 (GRCm39) V337A probably damaging Het
Prr14l T C 5: 33,001,743 (GRCm39) probably benign Het
Psmd1 A G 1: 86,064,820 (GRCm39) I951V probably benign Het
Rab35 T G 5: 115,781,454 (GRCm39) I85M possibly damaging Het
Rad9a A T 19: 4,250,536 (GRCm39) S93T probably benign Het
Ric1 G A 19: 29,563,242 (GRCm39) C555Y probably damaging Het
Rnd2 C T 11: 101,359,825 (GRCm39) L57F probably damaging Het
Ror2 T A 13: 53,264,719 (GRCm39) Q791L probably benign Het
Rps8 G C 4: 117,012,352 (GRCm39) probably benign Het
Sdr16c5 C T 4: 4,016,216 (GRCm39) W70* probably null Het
Senp3 A G 11: 69,568,821 (GRCm39) V408A probably benign Het
Sh2d4b C A 14: 40,562,301 (GRCm39) W288L probably benign Het
Slc38a9 A T 13: 112,859,832 (GRCm39) D422V probably damaging Het
Slc4a2 T C 5: 24,645,141 (GRCm39) F1104L probably damaging Het
Slc4a3 A G 1: 75,527,267 (GRCm39) K113E possibly damaging Het
Spata3 G A 1: 85,952,048 (GRCm39) probably null Het
Spata31d1d A T 13: 59,877,055 (GRCm39) V160E possibly damaging Het
Sprr2f A G 3: 92,273,203 (GRCm39) M1V probably null Het
Sptbn1 A G 11: 30,068,295 (GRCm39) V1733A possibly damaging Het
Syce1 C A 7: 140,359,809 (GRCm39) L83F probably damaging Het
Tardbp A G 4: 148,702,050 (GRCm39) I295T probably benign Het
Tmem212 A G 3: 27,939,157 (GRCm39) S110P probably damaging Het
Tnc G A 4: 63,935,857 (GRCm39) Q360* probably null Het
Tnrc6c C A 11: 117,613,731 (GRCm39) Q630K probably damaging Het
Ttc19 G A 11: 62,199,922 (GRCm39) R235H probably benign Het
Ube3b T A 5: 114,553,787 (GRCm39) probably null Het
Vmn2r31 C T 7: 7,390,062 (GRCm39) probably null Het
Vmn2r92 T A 17: 18,372,183 (GRCm39) probably benign Het
Washc5 A T 15: 59,205,485 (GRCm39) Y685* probably null Het
Wdr93 T A 7: 79,399,817 (GRCm39) Y135* probably null Het
Wdr95 T A 5: 149,518,797 (GRCm39) I546K probably damaging Het
Zbtb38 T A 9: 96,570,254 (GRCm39) T277S probably benign Het
Zfp13 T C 17: 23,795,797 (GRCm39) D258G possibly damaging Het
Zfp397 T A 18: 24,093,249 (GRCm39) S245T probably benign Het
Zfp646 T C 7: 127,482,907 (GRCm39) Y1695H probably benign 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
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'- GTGCCTTCATTAACTTTAGTTAGGA -3'
(R):5'- TGACACACCCATGAAGAAATCTT -3'

Sequencing Primer
(F):5'- GTTAGGAATTCTTCAGTCTCTG -3'
(R):5'- CTGATACTTGGCACTTGG -3'
Posted On 2016-03-01