Incidental Mutation 'R8719:Brf1'
ID 670036
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 068614-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.967) question?
Stock # R8719 (G1)
Quality Score 225.009
Status Validated
Chromosome 12
Chromosomal Location 112923705-112964324 bp(-) (GRCm39)
Type of Mutation critical splice donor site
DNA Base Change (assembly) C to A at 112943304 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000011302 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000002880] [ENSMUST00000011302] [ENSMUST00000165079] [ENSMUST00000221104] [ENSMUST00000221500] [ENSMUST00000222209] [ENSMUST00000223287] [ENSMUST00000223368]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000002880
SMART Domains Protein: ENSMUSP00000002880
Gene: ENSMUSG00000002803

DomainStartEndE-ValueType
signal peptide 1 23 N/A INTRINSIC
low complexity region 25 40 N/A INTRINSIC
low complexity region 43 55 N/A INTRINSIC
low complexity region 58 68 N/A INTRINSIC
low complexity region 86 106 N/A INTRINSIC
BTB 137 237 1.39e-23 SMART
BACK 243 352 2.81e-14 SMART
Pfam:PHR 393 538 1.2e-49 PFAM
Predicted Effect probably benign
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 probably benign
Transcript: ENSMUST00000165079
SMART Domains Protein: ENSMUSP00000127286
Gene: ENSMUSG00000002803

DomainStartEndE-ValueType
low complexity region 7 17 N/A INTRINSIC
low complexity region 35 55 N/A INTRINSIC
BTB 86 186 1.39e-23 SMART
BACK 192 301 2.81e-14 SMART
Pfam:PHR 342 488 8.7e-50 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000221104
Predicted Effect probably benign
Transcript: ENSMUST00000221500
Predicted Effect probably benign
Transcript: ENSMUST00000222209
Predicted Effect probably benign
Transcript: ENSMUST00000223287
Predicted Effect probably benign
Transcript: ENSMUST00000223368
Predicted Effect probably benign
Transcript: ENSMUST00000223508
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.2%
Validation Efficiency 100% (61/61)
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: 61 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acsl1 T C 8: 46,966,700 (GRCm39) I224T probably benign Het
Adamts20 C G 15: 94,241,903 (GRCm39) A702P probably damaging Het
Ahdc1 T A 4: 132,791,533 (GRCm39) Y925N possibly damaging Het
Anapc1 T C 2: 128,483,369 (GRCm39) E1242G probably damaging Het
Angptl2 A G 2: 33,133,914 (GRCm39) N412S possibly damaging Het
Aox3 T C 1: 58,158,696 (GRCm39) V89A probably damaging Het
Atxn1l A T 8: 110,459,861 (GRCm39) S134T possibly damaging Het
Cab39l A T 14: 59,734,314 (GRCm39) H11L probably benign Het
Cabcoco1 A G 10: 68,272,671 (GRCm39) probably benign Het
Ccdc150 C A 1: 54,302,668 (GRCm39) P96Q probably benign Het
Chek2 T C 5: 111,014,908 (GRCm39) V459A probably damaging Het
Cntnap2 A T 6: 45,978,161 (GRCm39) D272V probably damaging Het
Cspp1 T C 1: 10,160,516 (GRCm39) S572P possibly damaging Het
Cysltr2 T C 14: 73,267,111 (GRCm39) T200A possibly damaging Het
Dglucy T C 12: 100,804,821 (GRCm39) L104P probably damaging Het
Dnah8 T A 17: 30,960,289 (GRCm39) M2222K probably damaging Het
Dync2h1 C A 9: 7,041,641 (GRCm39) V3334F probably benign Het
Ear2 A T 14: 44,340,734 (GRCm39) T131S possibly damaging Het
Eef1akmt2 A T 7: 132,452,340 (GRCm39) V92D probably damaging Het
Fam83c T A 2: 155,671,128 (GRCm39) Q769L probably benign Het
Fanca A T 8: 124,014,867 (GRCm39) C812S probably benign Het
Gm21663 T G 5: 26,146,162 (GRCm39) R50S probably damaging Het
Gm5591 T G 7: 38,221,614 (GRCm39) S152R probably benign Het
Gm6370 T G 5: 146,430,626 (GRCm39) D270E probably damaging Het
H2-T22 T C 17: 36,352,835 (GRCm39) I91V probably benign Het
Hdac5 T C 11: 102,097,963 (GRCm39) M61V probably benign Het
Hsd17b6 A G 10: 127,829,492 (GRCm39) S237P possibly damaging Het
Khk T A 5: 31,088,374 (GRCm39) F294I possibly damaging Het
Klc1 G A 12: 111,772,509 (GRCm39) probably benign Het
Lamb3 T C 1: 193,006,099 (GRCm39) W143R probably damaging Het
Lmo2 T C 2: 103,811,264 (GRCm39) I171T probably damaging Het
Meis1 A G 11: 18,835,587 (GRCm39) S344P probably benign Het
Nf1 C A 11: 79,281,119 (GRCm39) R125S possibly damaging Het
Nrcam A G 12: 44,586,325 (GRCm39) E105G probably benign Het
Nudt22 T C 19: 6,972,638 (GRCm39) D150G possibly damaging Het
Or14j8 T C 17: 38,263,895 (GRCm39) T7A probably damaging Het
Or5an1 A G 19: 12,260,792 (GRCm39) I127V probably benign Het
Or5b109 A G 19: 13,211,836 (GRCm39) Y74C probably damaging Het
Pclo A T 5: 14,763,778 (GRCm39) R799* probably null Het
Pelp1 T C 11: 70,292,789 (GRCm39) N175S probably damaging Het
Perm1 TGCCTCTGAGCCTGACACGGCTTTGTCTACACCCGCCTCTGAGCCTGACACGGCTTTGTCTACACCCGCCTCTGAGCCTGACACGGCTTTGTCTACACCCGCCTCT TGCCTCTGAGCCTGACACGGCTTTGTCTACACCCGCCTCTGAGCCTGACACGGCTTTGTCTACACCCGCCTCT 4: 156,302,525 (GRCm39) probably benign Het
Pik3r4 C A 9: 105,559,394 (GRCm39) S1162R probably benign Het
Pkd1l3 A T 8: 110,341,255 (GRCm39) N36I unknown Het
Pomk T A 8: 26,473,503 (GRCm39) Y150F possibly damaging Het
Rdh11 T A 12: 79,229,574 (GRCm39) H233L probably benign Het
Rln1 A T 19: 29,309,281 (GRCm39) M166K probably benign Het
Rnf40 T A 7: 127,191,834 (GRCm39) L356Q probably damaging Het
Sin3b G T 8: 73,450,139 (GRCm39) G19W unknown Het
Slc6a15 A G 10: 103,240,176 (GRCm39) R300G probably damaging Het
Sncaip A T 18: 53,027,910 (GRCm39) K433M probably damaging Het
Tead2 A T 7: 44,882,316 (GRCm39) probably benign Het
Tespa1 A G 10: 130,184,108 (GRCm39) D63G probably benign Het
Tmem117 T C 15: 94,992,248 (GRCm39) F303L probably damaging Het
Tmem270 T G 5: 134,930,650 (GRCm39) T204P probably damaging Het
Trip12 A G 1: 84,722,790 (GRCm39) V1320A probably damaging Het
Ttc7b A G 12: 100,267,812 (GRCm39) L843P probably damaging Het
Ttn T C 2: 76,543,041 (GRCm39) Y33315C probably damaging Het
Ttn A G 2: 76,607,146 (GRCm39) V17959A possibly damaging Het
Vmn2r73 A G 7: 85,521,095 (GRCm39) V291A probably damaging Het
Ywhag T A 5: 135,939,998 (GRCm39) T199S probably benign Het
Zfp810 T C 9: 22,190,571 (GRCm39) T77A probably benign 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
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
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'- TCCTGGCCGTCATTTGACAG -3'
(R):5'- TTTAAGAAAACAGCAGCTGAGC -3'

Sequencing Primer
(F):5'- AGGCACTGGTAGGCCTTCTG -3'
(R):5'- TGGTGATCGCCTTAACCAG -3'
Posted On 2021-04-30