Incidental Mutation 'IGL01622:Brf1'
ID 278614
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 # IGL01622
Quality Score
Status
Chromosome 12
Chromosomal Location 112923705-112964324 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to G at 112924795 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Alanine at position 643 (E643A)
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: E643A

PolyPhen 2 Score 0.021 (Sensitivity: 0.95; Specificity: 0.80)
SMART Domains Protein: ENSMUSP00000011302
Gene: ENSMUSG00000011158
AA Change: E643A

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: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930596D02Rik G A 14: 35,532,024 (GRCm39) Q184* probably null Het
A1bg A C 15: 60,789,742 (GRCm39) I502S possibly damaging Het
Actl11 T C 9: 107,805,775 (GRCm39) S33P probably benign Het
Aftph G T 11: 20,659,632 (GRCm39) D730E probably damaging Het
Arhgap29 A G 3: 121,767,773 (GRCm39) probably benign Het
Caskin1 G T 17: 24,722,914 (GRCm39) probably null Het
Ccnjl T C 11: 43,476,154 (GRCm39) V259A probably benign Het
Ccser2 G T 14: 36,662,920 (GRCm39) T88K probably benign Het
Cdk17 T C 10: 93,074,824 (GRCm39) probably benign Het
Clec16a G A 16: 10,395,774 (GRCm39) S309N possibly damaging Het
Cpxm1 C A 2: 130,233,191 (GRCm39) A633S probably benign Het
Ctnnbl1 A T 2: 157,661,468 (GRCm39) N326I probably damaging Het
Cyp46a1 T C 12: 108,318,234 (GRCm39) V215A possibly damaging Het
Daxx A G 17: 34,132,454 (GRCm39) D528G probably benign Het
Dnah6 T C 6: 73,121,701 (GRCm39) Y1427C probably damaging Het
Dpy19l3 G A 7: 35,422,169 (GRCm39) T228I probably damaging Het
Fam131c C T 4: 141,109,761 (GRCm39) A131V possibly damaging Het
Fat1 A G 8: 45,482,592 (GRCm39) T3061A possibly damaging Het
Fgl2 T A 5: 21,578,175 (GRCm39) L154H possibly damaging Het
Fhod3 T A 18: 25,155,924 (GRCm39) I514K probably benign Het
Ficd G A 5: 113,876,622 (GRCm39) G266S probably damaging Het
Frem3 A G 8: 81,340,544 (GRCm39) T946A probably benign Het
Gan T A 8: 117,913,917 (GRCm39) V105D probably damaging Het
Garin5b A G 7: 4,761,722 (GRCm39) V330A probably benign Het
Gramd1c A G 16: 43,811,061 (GRCm39) V221A probably damaging Het
Hacd1 A G 2: 14,040,667 (GRCm39) V196A probably benign Het
Kcna6 C A 6: 126,715,576 (GRCm39) V438L probably damaging Het
Kif14 T C 1: 136,425,094 (GRCm39) probably benign Het
Klhl41 T C 2: 69,508,582 (GRCm39) V512A probably benign Het
Lrfn1 A G 7: 28,166,111 (GRCm39) T502A probably damaging Het
Notch3 A T 17: 32,377,844 (GRCm39) F105I possibly damaging Het
Or4b13 T G 2: 90,082,953 (GRCm39) K126N probably damaging Het
Or5m10 A T 2: 85,717,306 (GRCm39) H54L probably benign Het
P3h1 C T 4: 119,092,480 (GRCm39) T171I probably damaging Het
Pcdhb1 A G 18: 37,399,366 (GRCm39) E439G possibly damaging Het
Pik3c3 A T 18: 30,423,578 (GRCm39) K225* probably null Het
Pik3c3 A G 18: 30,426,102 (GRCm39) probably benign Het
Pik3r5 T A 11: 68,377,452 (GRCm39) probably null Het
Pnpt1 A C 11: 29,098,272 (GRCm39) probably benign Het
Ppp2r1b T A 9: 50,789,422 (GRCm39) V495D probably damaging Het
Rbfox3 C A 11: 118,396,440 (GRCm39) probably benign Het
Sec14l2 G A 11: 4,053,966 (GRCm39) P234S possibly damaging Het
Sec16a A C 2: 26,328,915 (GRCm39) D1033E probably benign Het
Septin14 A G 5: 129,763,019 (GRCm39) V357A probably damaging Het
Sf3a3 C T 4: 124,612,136 (GRCm39) T131I possibly damaging Het
Snrpa A T 7: 26,892,395 (GRCm39) M55K probably benign Het
Swt1 G T 1: 151,286,760 (GRCm39) T244N probably benign Het
Tbl1xr1 A G 3: 22,246,238 (GRCm39) T253A probably benign Het
Tst G T 15: 78,283,964 (GRCm39) R288S probably benign Het
Vmn2r60 A G 7: 41,785,910 (GRCm39) I238V probably benign Het
Zbtb14 A G 17: 69,695,184 (GRCm39) K294R probably benign Het
Zfp710 T A 7: 79,730,871 (GRCm39) V16E probably damaging Het
Zfpm2 A G 15: 40,965,320 (GRCm39) T602A probably benign Het
Zfr2 G A 10: 81,087,193 (GRCm39) M850I 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
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
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 2015-04-16