Incidental Mutation 'R6291:Btaf1'
ID 508478
Institutional Source Beutler Lab
Gene Symbol Btaf1
Ensembl Gene ENSMUSG00000040565
Gene Name B-TFIID TATA-box binding protein associated factor 1
Synonyms E430027O22Rik
Accession Numbers
Essential gene? Probably essential (E-score: 0.967) question?
Stock # R6291 (G1)
Quality Score 225.009
Status Validated
Chromosome 19
Chromosomal Location 36903479-36990152 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 36950408 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Isoleucine at position 546 (T546I)
Ref Sequence ENSEMBL: ENSMUSP00000097093 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000099494]
AlphaFold E9QAE3
Predicted Effect probably benign
Transcript: ENSMUST00000099494
AA Change: T546I

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000097093
Gene: ENSMUSG00000040565
AA Change: T546I

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: 99.9%
  • 3x: 99.7%
  • 10x: 98.6%
  • 20x: 96.3%
Validation Efficiency 98% (86/88)
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: 91 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc12 C T 8: 87,293,173 (GRCm39) G5D possibly damaging Het
Adamts9 T C 6: 92,867,101 (GRCm39) K95R probably damaging Het
Adap1 G T 5: 139,259,246 (GRCm39) L314M probably benign Het
Alkbh1 T A 12: 87,475,864 (GRCm39) E306V possibly damaging Het
Alpk2 T A 18: 65,438,972 (GRCm39) D1274V possibly damaging Het
Ankrd31 A C 13: 97,014,746 (GRCm39) K1188N possibly damaging Het
Aox1 T A 1: 58,369,965 (GRCm39) M759K probably damaging Het
Atp13a3 T A 16: 30,155,061 (GRCm39) D961V probably damaging Het
Bcl11a G A 11: 24,108,321 (GRCm39) G100R probably damaging Het
Bpifc G A 10: 85,812,122 (GRCm39) A362V probably damaging Het
Casd1 C A 6: 4,619,834 (GRCm39) P193Q probably damaging Het
Cdhr1 T C 14: 36,811,422 (GRCm39) T230A probably benign Het
Celsr3 T G 9: 108,706,041 (GRCm39) D841E probably damaging Het
Cenpj T C 14: 56,789,433 (GRCm39) D872G probably benign Het
Cep95 G T 11: 106,706,422 (GRCm39) A559S probably damaging Het
Chpt1 A T 10: 88,311,306 (GRCm39) C62* probably null Het
Cspg4b T A 13: 113,456,981 (GRCm39) I1009N possibly damaging Het
Cspp1 A G 1: 10,134,559 (GRCm39) K103R probably damaging Het
Ctla4 T C 1: 60,951,837 (GRCm39) V122A probably benign Het
Cyp3a11 A G 5: 145,799,237 (GRCm39) F317L possibly damaging Het
Daam1 T C 12: 71,993,025 (GRCm39) L338P unknown Het
Dcc T A 18: 71,815,238 (GRCm39) I379L probably benign Het
Dennd2c C A 3: 103,038,925 (GRCm39) C24* probably null Het
Dnai3 G A 3: 145,772,648 (GRCm39) S466L probably benign Het
Dnajc12 A G 10: 63,233,053 (GRCm39) I65V probably benign Het
Dock3 T A 9: 106,785,631 (GRCm39) M208L probably benign Het
Dsg1b T C 18: 20,537,848 (GRCm39) I588T possibly damaging Het
Eif1b T C 9: 120,323,206 (GRCm39) L22S probably benign Het
Ep300 T A 15: 81,532,708 (GRCm39) S1649T unknown Het
Eps15 CAAA CAA 4: 109,162,900 (GRCm39) probably null Het
Ercc6 A T 14: 32,291,943 (GRCm39) E1102D probably benign Het
Gsdmc3 T C 15: 63,732,090 (GRCm39) N312S probably benign Het
Guca2b A T 4: 119,514,890 (GRCm39) L57Q probably damaging Het
Heatr5b G T 17: 79,069,526 (GRCm39) H1740Q probably benign Het
Hecw1 G A 13: 14,697,592 (GRCm39) probably benign Het
Icam5 A G 9: 20,948,217 (GRCm39) H675R probably benign Het
Il18rap T C 1: 40,564,049 (GRCm39) F56L probably benign Het
Iqgap3 T A 3: 87,997,037 (GRCm39) probably null Het
Itsn1 T C 16: 91,664,984 (GRCm39) probably benign Het
Jakmip3 A T 7: 138,622,585 (GRCm39) D315V probably damaging Het
Kif24 A G 4: 41,413,959 (GRCm39) Y328H probably damaging Het
Kmt2a A T 9: 44,744,171 (GRCm39) probably benign Het
Kng1 A G 16: 22,898,475 (GRCm39) E625G probably damaging Het
Man2b1 C T 8: 85,823,675 (GRCm39) T973I probably benign Het
Masp2 G A 4: 148,687,210 (GRCm39) V31M probably damaging Het
Myo18b C T 5: 113,013,601 (GRCm39) R785H possibly damaging Het
Naa15 G A 3: 51,350,212 (GRCm39) G103D probably damaging Het
Or4f15 A G 2: 111,813,969 (GRCm39) V150A probably benign Het
Or5m11b A G 2: 85,805,926 (GRCm39) Y113C probably damaging Het
Or7e177 T A 9: 20,211,899 (GRCm39) D134E probably damaging Het
Papln A G 12: 83,829,789 (GRCm39) N970S probably benign Het
Pick1 T A 15: 79,135,928 (GRCm39) probably null Het
Pigr A C 1: 130,769,498 (GRCm39) D103A probably benign Het
Plekhf1 A C 7: 37,921,029 (GRCm39) F180V possibly damaging Het
Plxnc1 A G 10: 94,669,504 (GRCm39) probably null Het
Polr3f A G 2: 144,376,308 (GRCm39) I136V probably damaging Het
Ppp2r2c T C 5: 37,097,468 (GRCm39) M218T possibly damaging Het
Prox2 C T 12: 85,136,420 (GRCm39) V466I probably damaging Het
Prrc2a G A 17: 35,373,909 (GRCm39) L1479F probably damaging Het
Rbm24 T A 13: 46,575,313 (GRCm39) probably null Het
Rcc1l A T 5: 134,195,560 (GRCm39) probably null Het
Ripk4 A C 16: 97,556,323 (GRCm39) L140R probably damaging Het
Rmnd1 A T 10: 4,372,135 (GRCm39) L188Q probably damaging Het
Rnf170 C T 8: 26,630,992 (GRCm39) P249S probably damaging Het
Rras A G 7: 44,667,595 (GRCm39) probably null Het
Rsf1 G A 7: 97,229,117 (GRCm39) probably benign Het
Scn7a T A 2: 66,530,458 (GRCm39) D629V probably damaging Het
Sipa1l3 A G 7: 29,087,558 (GRCm39) S556P probably damaging Het
Smarca2 C T 19: 26,608,292 (GRCm39) A117V probably damaging Het
Snca C T 6: 60,792,702 (GRCm39) A69T probably damaging Het
Snx2 T C 18: 53,342,737 (GRCm39) probably null Het
Spp1 T A 5: 104,587,242 (GRCm39) S109T possibly damaging Het
Stoml3 T C 3: 53,414,937 (GRCm39) L243P probably damaging Het
Susd2 A G 10: 75,473,408 (GRCm39) F789L possibly damaging Het
Sycp1 A G 3: 102,816,277 (GRCm39) M419T probably damaging Het
Thoc1 T C 18: 9,993,330 (GRCm39) V563A probably benign Het
Tmprss11g T C 5: 86,635,281 (GRCm39) I398V probably damaging Het
Tox3 A G 8: 90,975,566 (GRCm39) L355P probably damaging Het
Tpp1 A G 7: 105,396,223 (GRCm39) I492T probably benign Het
Trim21 A T 7: 102,213,289 (GRCm39) L3Q probably damaging Het
Ttn A C 2: 76,738,080 (GRCm39) V4153G probably benign Het
Ttn T C 2: 76,744,638 (GRCm39) probably benign Het
Unc80 A G 1: 66,560,756 (GRCm39) E828G possibly damaging Het
Vav3 A G 3: 109,416,170 (GRCm39) N263S possibly damaging Het
Vmn1r183 A C 7: 23,754,982 (GRCm39) T262P possibly damaging Het
Vmn2r67 G A 7: 84,799,142 (GRCm39) P522S possibly damaging Het
Vps35 T A 8: 86,026,086 (GRCm39) M1L probably benign Het
Xpo7 A T 14: 70,942,130 (GRCm39) L79* probably null Het
Zc3h14 G A 12: 98,726,087 (GRCm39) R324H probably damaging Het
Zfp330 T C 8: 83,499,613 (GRCm39) T6A probably damaging Het
Zfp948 T A 17: 21,807,286 (GRCm39) H159Q unknown 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
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'- GTCAACATGAGTAGGTCCATATAAC -3'
(R):5'- CACTGCCCACATCAAATGGTTC -3'

Sequencing Primer
(F):5'- GTCACTCACAGTTTTAGTCC -3'
(R):5'- ACTTGTAACTCGGTCCAGGGATC -3'
Posted On 2018-03-15