Incidental Mutation 'IGL01791:Brf1'
ID 155224
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Brf1
Ensembl Gene ENSMUSG00000011158
Gene Name BRF1, RNA polymerase III transcription initiation factor 90 kDa subunit
Synonyms 2510002F24Rik, TFIIIB90, GTF3B, TAF3C, TAFIII90
Accession Numbers
Essential gene? Probably essential (E-score: 0.967) question?
Stock # IGL01791
Quality Score
Status
Chromosome 12
Chromosomal Location 112923705-112964324 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 112926095 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 557 (D557G)
Ref Sequence ENSEMBL: ENSMUSP00000011302 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000011302]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000011302
AA Change: D557G

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000011302
Gene: ENSMUSG00000011158
AA Change: D557G

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
Coding Region Coverage
Validation Efficiency
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: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Arhgap32 A G 9: 32,158,486 (GRCm39) I174V probably damaging Het
Asb15 T A 6: 24,567,211 (GRCm39) C511S probably damaging Het
Atr C T 9: 95,803,834 (GRCm39) A1896V probably benign Het
B3gnt4 C T 5: 123,649,162 (GRCm39) R176C probably damaging Het
Catsperg2 T A 7: 29,404,090 (GRCm39) probably null Het
Cdip1 A G 16: 4,586,729 (GRCm39) I122T probably damaging Het
Ctrl C T 8: 106,659,199 (GRCm39) E147K probably benign Het
Dennd2c T C 3: 103,073,741 (GRCm39) V829A probably benign Het
Dync1h1 T A 12: 110,625,364 (GRCm39) L3874Q probably damaging Het
Dynlt4 T A 4: 116,985,794 (GRCm39) S206T probably damaging Het
Gm10521 T C 1: 171,723,964 (GRCm39) S92P unknown Het
Gm57858 T C 3: 36,089,416 (GRCm39) probably benign Het
Gzf1 G A 2: 148,525,981 (GRCm39) A151T probably benign Het
Hddc2 A G 10: 31,202,022 (GRCm39) Y123C probably damaging Het
Hyal4 T C 6: 24,763,894 (GRCm39) probably benign Het
Ighv16-1 T C 12: 114,032,589 (GRCm39) N71S probably benign Het
Ing2 A T 8: 48,122,070 (GRCm39) S159R probably benign Het
Itga1 A T 13: 115,124,197 (GRCm39) N698K probably benign Het
Lemd2 A T 17: 27,409,702 (GRCm39) I483N probably damaging Het
Lyst T C 13: 13,809,887 (GRCm39) L519P probably damaging Het
Mapk10 T C 5: 103,144,514 (GRCm39) N101S probably damaging Het
Nfatc4 A T 14: 56,069,695 (GRCm39) E164V probably null Het
Nfkb2 T G 19: 46,298,278 (GRCm39) probably benign Het
Nox3 A G 17: 3,733,218 (GRCm39) V231A possibly damaging Het
Nup160 G A 2: 90,534,197 (GRCm39) G674D probably damaging Het
Or1l4b A T 2: 37,036,548 (GRCm39) D108V probably damaging Het
Or56b1 C T 7: 104,285,682 (GRCm39) T267I possibly damaging Het
Otoa T G 7: 120,755,072 (GRCm39) V998G probably benign Het
Pcnx3 A T 19: 5,723,295 (GRCm39) M1300K probably benign Het
Pde4b A G 4: 102,448,127 (GRCm39) probably benign Het
Rfc1 T A 5: 65,420,488 (GRCm39) K1104I probably benign Het
Serpina1f G T 12: 103,659,761 (GRCm39) Q174K probably damaging Het
Serping1 T C 2: 84,603,721 (GRCm39) N107D possibly damaging Het
Speer4c2 C A 5: 15,861,884 (GRCm39) probably benign Het
Surf6 A G 2: 26,789,759 (GRCm39) S94P probably benign Het
Tigd4 T A 3: 84,502,052 (GRCm39) I323N probably damaging Het
Vmn2r28 T C 7: 5,491,161 (GRCm39) D362G probably benign Het
Wdfy3 A G 5: 102,085,278 (GRCm39) S739P 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
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
R1345:Brf1 UTSW 12 112,924,728 (GRCm39) critical splice donor site probably null
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
Posted On 2014-02-04