Incidental Mutation 'R0106:Brf1'
ID 63351
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 038392-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.967) question?
Stock # R0106 (G1)
Quality Score 117
Status Validated
Chromosome 12
Chromosomal Location 112923705-112964324 bp(-) (GRCm39)
Type of Mutation unclassified
DNA Base Change (assembly) A to G at 112937083 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Gene Model predicted gene model for transcript(s): [ENSMUST00000002880] [ENSMUST00000011302] [ENSMUST00000165079] [ENSMUST00000221104] [ENSMUST00000221500] [ENSMUST00000223368] [ENSMUST00000223287] [ENSMUST00000222209]
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 noncoding transcript
Transcript: ENSMUST00000220567
Predicted Effect probably benign
Transcript: ENSMUST00000221104
Predicted Effect probably benign
Transcript: ENSMUST00000221500
Predicted Effect noncoding transcript
Transcript: ENSMUST00000221680
Predicted Effect noncoding transcript
Transcript: ENSMUST00000223506
Predicted Effect probably benign
Transcript: ENSMUST00000223368
Predicted Effect noncoding transcript
Transcript: ENSMUST00000222117
Predicted Effect probably benign
Transcript: ENSMUST00000223287
Predicted Effect probably benign
Transcript: ENSMUST00000222209
Predicted Effect probably benign
Transcript: ENSMUST00000223508
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.8%
  • 10x: 97.7%
  • 20x: 95.9%
Validation Efficiency 100% (84/84)
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: 72 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A730018C14Rik A T 12: 112,381,628 (GRCm39) noncoding transcript Het
Abcb9 T C 5: 124,221,123 (GRCm39) N276S possibly damaging Het
Arhgef25 A G 10: 127,019,879 (GRCm39) probably null Het
Asic4 T C 1: 75,427,771 (GRCm39) V99A probably benign Het
Aspm C A 1: 139,404,614 (GRCm39) Q1315K probably benign Het
B3galnt2 T C 13: 14,170,378 (GRCm39) S243P probably benign Het
Card19 A C 13: 49,361,621 (GRCm39) D3E probably benign Het
Chd6 A G 2: 160,809,822 (GRCm39) F1480L probably damaging Het
Ckap5 T C 2: 91,408,550 (GRCm39) I915T possibly damaging Het
Ckap5 T A 2: 91,446,185 (GRCm39) I1836N probably damaging Het
Cpb1 T C 3: 20,320,697 (GRCm39) probably null Het
Cramp1 A G 17: 25,191,350 (GRCm39) V1037A probably benign Het
Cspg5 C A 9: 110,075,600 (GRCm39) P112Q probably damaging Het
Cyp2g1 T A 7: 26,513,607 (GRCm39) I182N probably damaging Het
Dscc1 C A 15: 54,946,966 (GRCm39) C253F probably benign Het
Dysf C A 6: 84,090,318 (GRCm39) F956L probably benign Het
Ephb6 T C 6: 41,596,528 (GRCm39) probably benign Het
Firrm T C 1: 163,810,380 (GRCm39) probably benign Het
Fkbp6 C T 5: 135,368,858 (GRCm39) R234Q probably benign Het
Gda T C 19: 21,374,920 (GRCm39) D332G probably benign Het
Ggt7 C T 2: 155,336,813 (GRCm39) A560T possibly damaging Het
Glis3 A T 19: 28,509,268 (GRCm39) S239T possibly damaging Het
Gm10845 T A 14: 80,100,644 (GRCm39) noncoding transcript Het
H2-M5 A G 17: 37,300,034 (GRCm39) F47L possibly damaging Het
Hsdl1 T A 8: 120,292,517 (GRCm39) S254C probably damaging Het
Igsf6 T A 7: 120,673,677 (GRCm39) I18F probably benign Het
Immt A G 6: 71,828,828 (GRCm39) S128G probably benign Het
Isy1 G A 6: 87,796,167 (GRCm39) R257W probably damaging Het
Kif13a G T 13: 46,978,823 (GRCm39) probably benign Het
Kif14 T C 1: 136,407,662 (GRCm39) probably benign Het
L2hgdh A T 12: 69,752,563 (GRCm39) Y239* probably null Het
Lama3 T C 18: 12,537,039 (GRCm39) V228A probably damaging Het
Lamp1 A G 8: 13,224,550 (GRCm39) T405A probably damaging Het
Lpin1 A T 12: 16,590,980 (GRCm39) N817K possibly damaging Het
Luzp1 A G 4: 136,269,996 (GRCm39) K740E probably damaging Het
Mapk12 T C 15: 89,017,187 (GRCm39) probably benign Het
Mdga2 A T 12: 66,763,480 (GRCm39) N205K probably damaging Het
Myo1a A G 10: 127,555,749 (GRCm39) I913V probably benign Het
Nat10 A G 2: 103,587,550 (GRCm39) V55A probably damaging Het
Nlrp10 T C 7: 108,524,529 (GRCm39) E317G possibly damaging Het
Nomo1 T C 7: 45,687,056 (GRCm39) I72T probably damaging Het
Or5b98 A G 19: 12,931,720 (GRCm39) I256V probably benign Het
Or8d6 GC G 9: 39,854,119 (GRCm39) probably null Het
Pappa2 C T 1: 158,542,547 (GRCm39) C1780Y probably damaging Het
Pgm2l1 A G 7: 99,899,580 (GRCm39) M65V probably benign Het
Plec C T 15: 76,060,518 (GRCm39) E3162K probably damaging Het
Pnisr T C 4: 21,874,617 (GRCm39) probably benign Het
Pop7 A G 5: 137,499,911 (GRCm39) *141Q probably null Het
Prss34 A T 17: 25,517,700 (GRCm39) D25V probably damaging Het
Ptpn1 T C 2: 167,818,338 (GRCm39) probably benign Het
Pygb A G 2: 150,648,123 (GRCm39) D119G probably benign Het
Racgap1 T C 15: 99,540,839 (GRCm39) T4A possibly damaging Het
Rap1gap2 A G 11: 74,326,570 (GRCm39) C166R probably benign Het
Rbm28 C A 6: 29,127,802 (GRCm39) V705L probably benign Het
Rgs1 C T 1: 144,124,287 (GRCm39) V50M probably benign Het
Rgs12 C T 5: 35,124,008 (GRCm39) T597I probably benign Het
Ros1 T C 10: 52,018,363 (GRCm39) N765S possibly damaging Het
Ruvbl1 A G 6: 88,450,182 (GRCm39) R58G probably damaging Het
Scube2 A G 7: 109,446,115 (GRCm39) probably benign Het
Serpinb10 T A 1: 107,474,474 (GRCm39) L212Q probably damaging Het
Slc6a7 A G 18: 61,135,295 (GRCm39) V411A probably benign Het
Slco1a6 A T 6: 142,103,116 (GRCm39) probably benign Het
Smc1b A T 15: 84,955,020 (GRCm39) D1077E probably damaging Het
Srek1 G A 13: 103,880,131 (GRCm39) H476Y unknown Het
Strn3 A G 12: 51,668,571 (GRCm39) V673A probably benign Het
Tepsin T C 11: 119,982,637 (GRCm39) probably null Het
Timmdc1 A C 16: 38,342,724 (GRCm39) L58R probably damaging Het
Tmem132c T C 5: 127,631,733 (GRCm39) V664A possibly damaging Het
Tmem241 A T 18: 12,239,066 (GRCm39) probably benign Het
Tmprss15 T C 16: 78,800,277 (GRCm39) D602G probably damaging Het
Trbv15 T C 6: 41,118,199 (GRCm39) probably benign Het
Wdr70 A T 15: 8,049,068 (GRCm39) probably null 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
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
Predicted Primers PCR Primer
(F):5'- ACGGCTTAAAGGCTCAAGACAGATG -3'
(R):5'- ACCTTTTGCCATACATGCCCAGAAC -3'

Sequencing Primer
(F):5'- GCTCAAGACAGATGACTAAAGTTC -3'
(R):5'- TACATGCCCAGAACTGTGC -3'
Posted On 2013-07-30