Incidental Mutation 'R1740:Btf3'
ID 200303
Institutional Source Beutler Lab
Gene Symbol Btf3
Ensembl Gene ENSMUSG00000021660
Gene Name basic transcription factor 3
Synonyms 1700054E11Rik
MMRRC Submission 039772-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R1740 (G1)
Quality Score 225
Status Validated
Chromosome 13
Chromosomal Location 98446405-98453514 bp(-) (GRCm39)
Type of Mutation start codon destroyed
DNA Base Change (assembly) C to T at 98452804 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Isoleucine at position 1 (M1I)
Ref Sequence ENSEMBL: ENSMUSP00000118093 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022163] [ENSMUST00000134542] [ENSMUST00000152704]
AlphaFold Q64152
Predicted Effect probably benign
Transcript: ENSMUST00000022163
AA Change: M43I

PolyPhen 2 Score 0.063 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000022163
Gene: ENSMUSG00000021660
AA Change: M43I

DomainStartEndE-ValueType
low complexity region 13 21 N/A INTRINSIC
Pfam:NAC 83 139 6.2e-30 PFAM
low complexity region 182 193 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000062252
Predicted Effect noncoding transcript
Transcript: ENSMUST00000126622
Predicted Effect noncoding transcript
Transcript: ENSMUST00000132488
Predicted Effect noncoding transcript
Transcript: ENSMUST00000133461
Predicted Effect noncoding transcript
Transcript: ENSMUST00000133826
Predicted Effect probably null
Transcript: ENSMUST00000134542
AA Change: M1I

PolyPhen 2 Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)
SMART Domains Protein: ENSMUSP00000115500
Gene: ENSMUSG00000021660
AA Change: M1I

DomainStartEndE-ValueType
Pfam:NAC 41 98 1.9e-26 PFAM
low complexity region 140 151 N/A INTRINSIC
Predicted Effect probably null
Transcript: ENSMUST00000152704
AA Change: M1I

PolyPhen 2 Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)
SMART Domains Protein: ENSMUSP00000118093
Gene: ENSMUSG00000021660
AA Change: M1I

DomainStartEndE-ValueType
Pfam:NAC 41 98 1.9e-26 PFAM
low complexity region 140 151 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000135572
Meta Mutation Damage Score 0.1447 question?
Coding Region Coverage
  • 1x: 97.5%
  • 3x: 97.0%
  • 10x: 95.5%
  • 20x: 93.0%
Validation Efficiency 99% (69/70)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes the basic transcription factor 3. This protein forms a stable complex with RNA polymerase IIB and is required for transcriptional initiation. Alternative splicing results in multiple transcript variants encoding different isoforms. This gene has multiple pseudogenes. [provided by RefSeq, Jul 2008]
PHENOTYPE: A gene trap insertional mutation results in homozygous embryonic lethality shortly after implantation. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 62 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2610021A01Rik T A 7: 41,275,549 (GRCm39) C417* probably null Het
4930548G14Rik G A 15: 46,488,885 (GRCm39) noncoding transcript Het
Abcc12 T A 8: 87,232,126 (GRCm39) K1311* probably null Het
Abcc12 T C 8: 87,236,400 (GRCm39) D1138G possibly damaging Het
Adam32 A G 8: 25,411,314 (GRCm39) S116P probably damaging Het
Arhgef26 C T 3: 62,331,004 (GRCm39) L39F probably damaging Het
Babam1 T C 8: 71,855,663 (GRCm39) I252T probably damaging Het
Ccdc61 G T 7: 18,637,862 (GRCm39) probably benign Het
Ccdc89 C T 7: 90,075,946 (GRCm39) S52F probably damaging Het
Cds2 T A 2: 132,144,133 (GRCm39) I320N possibly damaging Het
Cebpe T C 14: 54,949,399 (GRCm39) Y6C probably damaging Het
Cep250 T A 2: 155,815,276 (GRCm39) I598N probably damaging Het
Cep350 T A 1: 155,804,579 (GRCm39) I835F probably damaging Het
Ces3a T C 8: 105,775,317 (GRCm39) L22P probably damaging Het
Cfap221 T C 1: 119,873,558 (GRCm39) S490G probably benign Het
Cyp2j11 A G 4: 96,207,613 (GRCm39) V234A probably benign Het
Dgat1 T C 15: 76,386,929 (GRCm39) H399R probably damaging Het
Dnah10 A T 5: 124,850,254 (GRCm39) probably null Het
Ebpl T G 14: 61,578,656 (GRCm39) K193T probably benign Het
Entpd5 T C 12: 84,443,545 (GRCm39) N66S probably benign Het
Fcgbp G T 7: 27,800,674 (GRCm39) G1240V possibly damaging Het
Gabra5 A G 7: 57,071,590 (GRCm39) S209P probably benign Het
Glce A T 9: 61,977,815 (GRCm39) V23D probably damaging Het
Gm14226 GACTGTTAC GAC 2: 154,866,851 (GRCm39) probably benign Het
Gtf2h1 A G 7: 46,461,890 (GRCm39) N296S probably null Het
Herc6 T C 6: 57,629,050 (GRCm39) S654P probably benign Het
Kcnk3 A T 5: 30,779,321 (GRCm39) M124L possibly damaging Het
Lamb2 T G 9: 108,359,127 (GRCm39) V281G probably damaging Het
Lctl A T 9: 64,040,389 (GRCm39) D444V probably damaging Het
Mcm2 A G 6: 88,861,026 (GRCm39) F891L probably damaging Het
Mcub A T 3: 129,712,376 (GRCm39) H166Q probably benign Het
Mical2 G T 7: 111,933,043 (GRCm39) R739L probably benign Het
Mideas T C 12: 84,219,676 (GRCm39) E426G probably damaging Het
Mkrn2 G T 6: 115,590,330 (GRCm39) A229S probably damaging Het
Mmp7 A G 9: 7,695,278 (GRCm39) Y80C possibly damaging Het
Mpp2 T C 11: 101,953,222 (GRCm39) probably null Het
Msh6 C A 17: 88,293,150 (GRCm39) T635K possibly damaging Het
Mvd T A 8: 123,163,286 (GRCm39) T315S probably benign Het
Myocd C T 11: 65,109,347 (GRCm39) probably benign Het
Nav1 C T 1: 135,386,127 (GRCm39) probably null Het
Or4k48 T A 2: 111,476,214 (GRCm39) I43F probably damaging Het
Pde4b A T 4: 102,344,548 (GRCm39) D141V probably damaging Het
Pdgfrb A T 18: 61,214,905 (GRCm39) D978V possibly damaging Het
Prss55 T C 14: 64,313,129 (GRCm39) T252A probably damaging Het
Psd3 A T 8: 68,573,491 (GRCm39) V230E probably damaging Het
Ptk2 A G 15: 73,114,255 (GRCm39) V701A possibly damaging Het
Ptprn A G 1: 75,238,694 (GRCm39) V82A probably damaging Het
Ptpru G T 4: 131,520,989 (GRCm39) probably null Het
Raph1 T A 1: 60,558,183 (GRCm39) K258* probably null Het
Rnf25 A G 1: 74,637,886 (GRCm39) V28A probably damaging Het
Slc25a4 C T 8: 46,661,540 (GRCm39) V212M probably benign Het
Slc39a3 T C 10: 80,867,342 (GRCm39) S135G probably damaging Het
Slco6d1 A G 1: 98,356,097 (GRCm39) I220M probably damaging Het
Smim19 G T 8: 22,963,544 (GRCm39) Y21* probably null Het
Speer4f1 A C 5: 17,683,759 (GRCm39) Y141S probably damaging Het
Srgap2 G A 1: 131,217,126 (GRCm39) P1062L probably benign Het
Stra8 A T 6: 34,904,654 (GRCm39) probably benign Het
Timm21 G C 18: 84,967,387 (GRCm39) L130V probably damaging Het
Tmem40 A G 6: 115,715,960 (GRCm39) S76P probably benign Het
Unc13b C T 4: 43,240,285 (GRCm39) R3569W probably damaging Het
Vmn1r128 A T 7: 21,083,869 (GRCm39) Q191L probably benign Het
Washc2 T A 6: 116,208,593 (GRCm39) probably benign Het
Other mutations in Btf3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02613:Btf3 APN 13 98,446,714 (GRCm39) unclassified probably benign
R1726:Btf3 UTSW 13 98,452,804 (GRCm39) start codon destroyed probably null 0.01
R1741:Btf3 UTSW 13 98,452,804 (GRCm39) start codon destroyed probably null 0.01
R1742:Btf3 UTSW 13 98,452,804 (GRCm39) start codon destroyed probably null 0.01
R2096:Btf3 UTSW 13 98,449,659 (GRCm39) missense possibly damaging 0.94
R3106:Btf3 UTSW 13 98,447,496 (GRCm39) missense probably benign 0.01
R4571:Btf3 UTSW 13 98,449,792 (GRCm39) missense probably benign 0.03
Predicted Primers PCR Primer
(F):5'- TGTCCCCTGCCAAGCAAAGTG -3'
(R):5'- TCTCTCCCTCTCGGCGGAAG -3'

Sequencing Primer
(F):5'- accaaaccaaaaacaacaacaac -3'
(R):5'- TAACGAGCGTGGAATGCT -3'
Posted On 2014-05-23