Incidental Mutation 'R1345:Brf1'
ID 156471
Institutional Source Beutler Lab
Gene Symbol Brf1
Ensembl Gene ENSMUSG00000011158
Gene Name BRF1, RNA polymerase III transcription initiation factor 90 kDa subunit
Synonyms 2510002F24Rik, TFIIIB90, GTF3B, TAF3C, TAFIII90
MMRRC Submission 039410-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.967) question?
Stock # R1345 (G1)
Quality Score 225
Status Validated
Chromosome 12
Chromosomal Location 112923705-112964324 bp(-) (GRCm39)
Type of Mutation critical splice donor site (2 bp from exon)
DNA Base Change (assembly) A to T at 112924728 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000011302 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000011302]
AlphaFold no structure available at present
Predicted Effect probably null
Transcript: ENSMUST00000011302
SMART Domains Protein: ENSMUSP00000011302
Gene: ENSMUSG00000011158

DomainStartEndE-ValueType
Pfam:TF_Zn_Ribbon 4 46 4.3e-17 PFAM
CYCLIN 91 172 1.93e-12 SMART
CYCLIN 185 269 1.22e-9 SMART
coiled coil region 298 334 N/A INTRINSIC
low complexity region 362 374 N/A INTRINSIC
low complexity region 431 444 N/A INTRINSIC
Pfam:BRF1 452 545 3.3e-29 PFAM
low complexity region 638 650 N/A INTRINSIC
low complexity region 662 675 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000221537
Predicted Effect noncoding transcript
Transcript: ENSMUST00000221754
Meta Mutation Damage Score 0.9582 question?
Coding Region Coverage
  • 1x: 99.0%
  • 3x: 98.2%
  • 10x: 95.9%
  • 20x: 92.3%
Validation Efficiency 100% (45/45)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes one of the three subunits of the RNA polymerase III transcription factor complex. This complex plays a central role in transcription initiation by RNA polymerase III on genes encoding tRNA, 5S rRNA, and other small structural RNAs. The gene product belongs to the TF2B family. Several alternatively spliced variants encoding different isoforms, that function at different promoters transcribed by RNA polymerase III, have been identified. [provided by RefSeq, Jun 2011]
Allele List at MGI

All alleles(3) : Gene trapped(3)

Other mutations in this stock
Total: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700001K19Rik C T 12: 110,635,152 (GRCm39) V129I probably damaging Het
Akr1c18 T C 13: 4,195,213 (GRCm39) T82A possibly damaging Het
Alx1 A G 10: 102,864,353 (GRCm39) S39P possibly damaging Het
Atr A G 9: 95,802,408 (GRCm39) T1767A probably benign Het
Cd86 A G 16: 36,438,686 (GRCm39) probably null Het
Cdan1 A G 2: 120,549,620 (GRCm39) probably null Het
Cntln A G 4: 84,892,228 (GRCm39) D371G probably damaging Het
Cypt4 A G 9: 24,536,515 (GRCm39) T2A possibly damaging Het
Dll1 G T 17: 15,593,817 (GRCm39) Y183* probably null Het
Dnmt1 G T 9: 20,819,814 (GRCm39) P1444Q probably damaging Het
Ern2 A G 7: 121,776,993 (GRCm39) L309P probably damaging Het
Fam151a A G 4: 106,599,491 (GRCm39) K142E probably damaging Het
Fbn1 T C 2: 125,156,591 (GRCm39) E2378G probably damaging Het
Hsh2d G A 8: 72,954,304 (GRCm39) D229N probably benign Het
Kdm5b A C 1: 134,558,288 (GRCm39) T1432P possibly damaging Het
Kif2a G A 13: 107,130,423 (GRCm39) S15F probably damaging Het
Lzic A G 4: 149,571,308 (GRCm39) E31G probably damaging Het
Mmp16 A G 4: 18,112,021 (GRCm39) M466V probably benign Het
Mtm1 T C X: 70,330,837 (GRCm39) V203A probably benign Het
Muc21 T A 17: 35,932,489 (GRCm39) probably benign Het
Neurl4 A G 11: 69,794,702 (GRCm39) M249V probably benign Het
Or6c76b T C 10: 129,692,759 (GRCm39) I124T probably damaging Het
Plxna2 T C 1: 194,326,794 (GRCm39) Y243H probably damaging Het
Rbm44 A G 1: 91,080,481 (GRCm39) N223S probably damaging Het
Sel1l3 G T 5: 53,357,559 (GRCm39) H144Q possibly damaging Het
Simc1 A ANNNNNNNNNNNNNNNNNNNNN 13: 54,673,060 (GRCm39) probably benign Het
Snrpb2 A G 2: 142,907,086 (GRCm39) probably benign Het
Spata31d1d T G 13: 59,873,838 (GRCm39) K1232N possibly damaging Het
Spink5 A T 18: 44,123,749 (GRCm39) E345D possibly damaging Het
Sucla2 C T 14: 73,798,074 (GRCm39) probably benign Het
Tarbp1 T C 8: 127,175,069 (GRCm39) D789G probably benign Het
Tedc2 T A 17: 24,435,291 (GRCm39) E366V probably damaging Het
Tedc2 C A 17: 24,435,292 (GRCm39) E366* probably null Het
Tmem232 T C 17: 65,757,401 (GRCm39) N264S possibly damaging Het
Trim43b G C 9: 88,967,725 (GRCm39) L303V possibly damaging Het
Tulp2 C A 7: 45,168,145 (GRCm39) R298S probably benign Het
Usp42 A G 5: 143,703,088 (GRCm39) V511A probably damaging Het
Vav1 A T 17: 57,608,214 (GRCm39) T321S probably benign Het
Vmn1r169 A C 7: 23,277,247 (GRCm39) H213P probably damaging Het
Vmn1r170 C T 7: 23,305,787 (GRCm39) T63I probably benign Het
Vmn2r103 T G 17: 20,014,509 (GRCm39) W434G probably damaging Het
Zfp407 C T 18: 84,577,898 (GRCm39) A1072T probably benign Het
Zfp7 T C 15: 76,774,908 (GRCm39) S317P probably damaging Het
Other mutations in Brf1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00928:Brf1 APN 12 112,927,220 (GRCm39) splice site probably benign
IGL01609:Brf1 APN 12 112,927,211 (GRCm39) missense probably damaging 1.00
IGL01610:Brf1 APN 12 112,951,703 (GRCm39) missense probably benign
IGL01622:Brf1 APN 12 112,924,795 (GRCm39) missense probably benign 0.02
IGL01623:Brf1 APN 12 112,924,795 (GRCm39) missense probably benign 0.02
IGL01791:Brf1 APN 12 112,926,095 (GRCm39) missense probably benign 0.00
IGL02037:Brf1 APN 12 112,956,682 (GRCm39) critical splice donor site probably null
IGL02227:Brf1 APN 12 112,925,394 (GRCm39) missense probably damaging 1.00
R0106:Brf1 UTSW 12 112,937,083 (GRCm39) unclassified probably benign
R0106:Brf1 UTSW 12 112,937,083 (GRCm39) unclassified probably benign
R0138:Brf1 UTSW 12 112,924,759 (GRCm39) missense probably damaging 0.99
R1370:Brf1 UTSW 12 112,924,728 (GRCm39) critical splice donor site probably null
R1927:Brf1 UTSW 12 112,963,964 (GRCm39) missense possibly damaging 0.95
R2423:Brf1 UTSW 12 112,963,819 (GRCm39) missense probably benign 0.17
R3608:Brf1 UTSW 12 112,924,894 (GRCm39) missense probably benign 0.00
R3703:Brf1 UTSW 12 112,932,991 (GRCm39) splice site probably null
R4033:Brf1 UTSW 12 112,943,352 (GRCm39) missense probably damaging 1.00
R4817:Brf1 UTSW 12 112,935,921 (GRCm39) missense probably damaging 0.99
R4897:Brf1 UTSW 12 112,929,507 (GRCm39) missense probably benign 0.05
R4985:Brf1 UTSW 12 112,932,990 (GRCm39) splice site probably null
R5092:Brf1 UTSW 12 112,943,352 (GRCm39) missense probably damaging 1.00
R7138:Brf1 UTSW 12 112,933,835 (GRCm39) missense probably damaging 1.00
R7187:Brf1 UTSW 12 112,923,945 (GRCm39) missense unknown
R7726:Brf1 UTSW 12 112,927,865 (GRCm39) missense probably benign
R7970:Brf1 UTSW 12 112,927,820 (GRCm39) missense probably damaging 1.00
R8719:Brf1 UTSW 12 112,943,304 (GRCm39) critical splice donor site probably benign
R8897:Brf1 UTSW 12 112,951,589 (GRCm39) missense probably damaging 1.00
R8967:Brf1 UTSW 12 112,937,239 (GRCm39) missense probably damaging 1.00
R9109:Brf1 UTSW 12 112,927,011 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TGCCTCATTGCTCTGTGAGCTG -3'
(R):5'- TTAGAGTCAGGAGGATTGCCACCC -3'

Sequencing Primer
(F):5'- gttaagagcactgactaatcttcc -3'
(R):5'- AGGATTGCCACCCTCTGC -3'
Posted On 2014-02-11