Incidental Mutation 'R1933:Btaf1'
ID 215627
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 039951-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.965) question?
Stock # R1933 (G1)
Quality Score 225
Status Not validated
Chromosome 19
Chromosomal Location 36903479-36990152 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 36950357 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Lysine at position 529 (I529K)
Ref Sequence ENSEMBL: ENSMUSP00000097093 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000099494]
AlphaFold E9QAE3
Predicted Effect probably damaging
Transcript: ENSMUST00000099494
AA Change: I529K

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000097093
Gene: ENSMUSG00000040565
AA Change: I529K

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: 97.5%
  • 3x: 97.0%
  • 10x: 95.7%
  • 20x: 93.4%
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: 78 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam25 A T 8: 41,207,922 (GRCm39) Y396F probably benign Het
Adra2a T A 19: 54,034,837 (GRCm39) F64L probably damaging Het
Ankrd45 A T 1: 160,978,870 (GRCm39) N103I probably damaging Het
Arhgef7 C A 8: 11,858,713 (GRCm39) probably null Het
Bsn A G 9: 107,993,643 (GRCm39) V703A possibly damaging Het
Ccdc110 A G 8: 46,396,287 (GRCm39) N726S probably damaging Het
Ccdc78 T A 17: 26,006,044 (GRCm39) S71T probably damaging Het
Cct5 G T 15: 31,591,154 (GRCm39) Q516K probably benign Het
Cd300c2 A T 11: 114,891,685 (GRCm39) V63E probably benign Het
Cdh16 A G 8: 105,344,595 (GRCm39) V7A possibly damaging Het
Clec16a T C 16: 10,506,403 (GRCm39) F710L probably damaging Het
Clpb T G 7: 101,428,418 (GRCm39) F393V probably damaging Het
Commd9 G A 2: 101,731,376 (GRCm39) R187H probably damaging Het
Crx T A 7: 15,602,301 (GRCm39) K126* probably null Het
Dcaf13 T A 15: 39,001,483 (GRCm39) Y264N probably damaging Het
Dnah12 T A 14: 26,455,650 (GRCm39) I791N probably damaging Het
Dpy19l1 A T 9: 24,345,683 (GRCm39) D456E probably damaging Het
Dscam A G 16: 96,394,414 (GRCm39) S1963P probably benign Het
Efl1 C T 7: 82,412,325 (GRCm39) Q905* probably null Het
Farsa T C 8: 85,587,780 (GRCm39) F104L probably benign Het
Fbxl19 C A 7: 127,350,101 (GRCm39) A231E probably benign Het
Fbxw19 A T 9: 109,310,718 (GRCm39) N401K probably benign Het
Foxp1 TTGCTGCTGCTGCTGCTGCTGCTGTTGCTGCTGCTGCTGTTGCTGCTGCTG TTGCTGCTGCTGCTGCTGCTGTTGCTGCTGCTGCTGTTGCTGCTGCTG 6: 99,052,926 (GRCm39) probably benign Het
Frem3 A G 8: 81,339,519 (GRCm39) N604S probably benign Het
Gad1 T G 2: 70,417,736 (GRCm39) C312G possibly damaging Het
Garem2 G T 5: 30,319,860 (GRCm39) E441* probably null Het
Glra3 G T 8: 56,393,942 (GRCm39) A18S probably benign Het
Gm8206 A T 14: 6,022,475 (GRCm38) M8K probably benign Het
Gpr162 G A 6: 124,838,410 (GRCm39) S80F probably damaging Het
Grpr C A X: 162,332,137 (GRCm39) V53L probably benign Het
Il21 C T 3: 37,286,635 (GRCm39) R27H probably benign Het
Il21r C T 7: 125,228,153 (GRCm39) T208I possibly damaging Het
Kcnab2 T C 4: 152,520,323 (GRCm39) T6A possibly damaging Het
Klra4 T A 6: 130,042,207 (GRCm39) Q20L possibly damaging Het
Lrrtm1 A T 6: 77,221,949 (GRCm39) probably null Het
Lrrtm3 A G 10: 63,924,292 (GRCm39) F292L possibly damaging Het
Mpeg1 A T 19: 12,440,011 (GRCm39) K490* probably null Het
Myh14 C T 7: 44,264,772 (GRCm39) M1671I probably benign Het
Nebl A T 2: 17,380,103 (GRCm39) M757K probably damaging Het
Or51m1 G T 7: 103,578,337 (GRCm39) M102I probably damaging Het
Or56b1b A C 7: 108,164,730 (GRCm39) F91V possibly damaging Het
Or5aq1 T A 2: 86,966,188 (GRCm39) H159L probably damaging Het
Pkhd1l1 A T 15: 44,404,280 (GRCm39) H2303L possibly damaging Het
Podxl2 C T 6: 88,826,587 (GRCm39) V240M probably benign Het
Ppp2r5e C G 12: 75,516,341 (GRCm39) A239P probably damaging Het
Prss53 T C 7: 127,485,434 (GRCm39) *553W probably null Het
Psma3 T A 12: 71,031,468 (GRCm39) M43K probably benign Het
Rad50 G T 11: 53,570,888 (GRCm39) T790K probably benign Het
Rasgrf1 G T 9: 89,835,966 (GRCm39) Q231H probably damaging Het
Rpn1 T A 6: 88,070,841 (GRCm39) V237E probably damaging Het
Scn10a T A 9: 119,439,064 (GRCm39) M1601L probably damaging Het
Sema4f G T 6: 82,907,908 (GRCm39) P180Q probably damaging Het
Serpinb5 A G 1: 106,803,851 (GRCm39) E8G probably damaging Het
Sgcg C T 14: 61,469,861 (GRCm39) V167I possibly damaging Het
Slc25a13 C T 6: 6,109,262 (GRCm39) V367M probably damaging Het
Spata31 T C 13: 65,068,424 (GRCm39) S191P probably benign Het
Srbd1 A G 17: 86,410,321 (GRCm39) V537A probably damaging Het
Srgap1 G T 10: 121,761,808 (GRCm39) D113E possibly damaging Het
Srl A G 16: 4,310,214 (GRCm39) I505T probably damaging Het
St14 G A 9: 31,017,508 (GRCm39) T226I probably benign Het
Stard9 T A 2: 120,529,137 (GRCm39) I1798N possibly damaging Het
Sugp1 A G 8: 70,509,225 (GRCm39) E166G possibly damaging Het
Susd1 A T 4: 59,351,695 (GRCm39) N455K possibly damaging Het
Sytl3 T A 17: 7,000,445 (GRCm39) V205E probably damaging Het
Tenm4 A G 7: 96,544,533 (GRCm39) Y2183C probably damaging Het
Tktl2 G A 8: 66,964,999 (GRCm39) V186M probably damaging Het
Tlcd3b T A 7: 126,426,844 (GRCm39) probably null Het
Tlr1 T G 5: 65,082,781 (GRCm39) T599P possibly damaging Het
Trpc6 G A 9: 8,656,546 (GRCm39) D658N probably damaging Het
Ttc39b A G 4: 83,150,957 (GRCm39) V546A possibly damaging Het
Ube3c T C 5: 29,824,657 (GRCm39) Y561H probably damaging Het
Vmn1r29 T A 6: 58,284,405 (GRCm39) S42T probably benign Het
Vps4a T C 8: 107,771,190 (GRCm39) V392A probably benign Het
Wdfy4 T C 14: 32,855,301 (GRCm39) E771G probably benign Het
Whrn G A 4: 63,333,876 (GRCm39) Q415* probably null Het
Wnt5a C T 14: 28,233,802 (GRCm39) P10L probably benign Het
Zfhx2 T C 14: 55,312,695 (GRCm39) probably benign Het
Zfp451 T C 1: 33,816,903 (GRCm39) K132R probably 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
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'- TTGGAACGTTCTAACTTGCTGAG -3'
(R):5'- AACGTATGCAAGCATTCTGATC -3'

Sequencing Primer
(F):5'- CTAACTTGCTGAGTGTAATTATGGC -3'
(R):5'- CGTATGCAAGCATTCTGATCTTTTTG -3'
Posted On 2014-07-14