Incidental Mutation 'R1882:Brf2'
ID 209181
Institutional Source Beutler Lab
Gene Symbol Brf2
Ensembl Gene ENSMUSG00000031487
Gene Name BRF2, RNA polymerase III transcription initiation factor 50kDa subunit
Synonyms 5730512K07Rik, TFIIIB50, 2700059M06Rik, BRFU
MMRRC Submission 039903-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.957) question?
Stock # R1882 (G1)
Quality Score 225
Status Validated
Chromosome 8
Chromosomal Location 27613392-27618708 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 27618577 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 9 (D9G)
Ref Sequence ENSEMBL: ENSMUSP00000147950 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000033877] [ENSMUST00000209770] [ENSMUST00000210552] [ENSMUST00000211151]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000033877
AA Change: D9G

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
SMART Domains Protein: ENSMUSP00000033877
Gene: ENSMUSG00000031487
AA Change: D9G

DomainStartEndE-ValueType
Pfam:TF_Zn_Ribbon 6 42 5.7e-11 PFAM
SCOP:d1aisb1 73 167 1e-12 SMART
Blast:CYCLIN 74 158 2e-51 BLAST
Blast:CYCLIN 171 275 6e-61 BLAST
low complexity region 322 336 N/A INTRINSIC
low complexity region 355 367 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000209770
AA Change: D9G

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000210230
Predicted Effect probably damaging
Transcript: ENSMUST00000210552
AA Change: D9G

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000210590
Predicted Effect probably damaging
Transcript: ENSMUST00000211151
AA Change: D9G

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
Predicted Effect probably benign
Transcript: ENSMUST00000211236
Meta Mutation Damage Score 0.0952 question?
Coding Region Coverage
  • 1x: 97.4%
  • 3x: 96.9%
  • 10x: 95.6%
  • 20x: 93.5%
Validation Efficiency 100% (59/59)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes one of the multiple subunits of the RNA polymerase III transcription factor complex required for transcription of genes with promoter elements upstream of the initiation site. The product of this gene, a TFIIB-like factor, is directly recruited to the TATA-box of polymerase III small nuclear RNA gene promoters through its interaction with the TATA-binding protein. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc2 T C 19: 43,786,945 (GRCm39) S189P probably benign Het
Adgrg3 G T 8: 95,766,943 (GRCm39) V433F probably benign Het
Arhgap33 A T 7: 30,222,234 (GRCm39) W1233R probably damaging Het
Btrc G A 19: 45,515,839 (GRCm39) R562Q probably damaging Het
Cenpu T C 8: 47,009,225 (GRCm39) F67L probably damaging Het
Chia1 T C 3: 106,035,790 (GRCm39) M150T probably damaging Het
Cntln A G 4: 85,019,072 (GRCm39) E1254G probably damaging Het
Creld1 G A 6: 113,469,166 (GRCm39) C332Y probably damaging Het
Ctla2a A G 13: 61,083,355 (GRCm39) probably benign Het
Dusp13b A T 14: 21,785,043 (GRCm39) D223E probably benign Het
Ext1 C A 15: 52,939,188 (GRCm39) L620F probably damaging Het
H2-DMb2 C T 17: 34,366,834 (GRCm39) R89C probably damaging Het
Klhl32 A T 4: 24,743,916 (GRCm39) L17* probably null Het
Lats2 C T 14: 57,934,811 (GRCm39) V640M probably damaging Het
Lrig3 G A 10: 125,845,694 (GRCm39) V708I possibly damaging Het
Mtcl1 T C 17: 66,686,315 (GRCm39) T415A probably benign Het
Mynn A G 3: 30,670,962 (GRCm39) *611W probably null Het
Nfx1 A G 4: 41,009,240 (GRCm39) T793A possibly damaging Het
Nlrp4d T C 7: 10,116,604 (GRCm39) noncoding transcript Het
Nos3 T C 5: 24,573,818 (GRCm39) V194A probably damaging Het
Npc1l1 C T 11: 6,167,473 (GRCm39) probably null Het
Nrg2 T C 18: 36,154,150 (GRCm39) D589G probably damaging Het
Omg C T 11: 79,392,545 (GRCm39) probably benign Het
Or10v9 T C 19: 11,832,835 (GRCm39) T161A probably damaging Het
Or14j5 T C 17: 38,161,839 (GRCm39) S119P probably damaging Het
Or2y17 A G 11: 49,231,539 (GRCm39) Y60C probably damaging Het
Or8k16 T A 2: 85,519,950 (GRCm39) M59K probably damaging Het
P2ry2 G T 7: 100,648,058 (GRCm39) Y82* probably null Het
Pcdh1 T C 18: 38,335,895 (GRCm39) T247A possibly damaging Het
Pecr A T 1: 72,314,136 (GRCm39) probably null Het
Pgm3 A G 9: 86,447,743 (GRCm39) Y167H possibly damaging Het
Pramel15 A T 4: 144,103,485 (GRCm39) C214S probably benign Het
Prmt2 T C 10: 76,058,302 (GRCm39) H169R probably benign Het
Rad51ap2 T A 12: 11,506,251 (GRCm39) S58T possibly damaging Het
Rbpms2 ACTGCTGCTGCTGCTGC ACTGCTGCTGCTGCTGCTGC 9: 65,558,948 (GRCm39) probably benign Het
Slc6a15 T C 10: 103,230,925 (GRCm39) S217P probably benign Het
Slco1a8 C A 6: 141,939,363 (GRCm39) probably null Het
Snx27 G A 3: 94,426,416 (GRCm39) T361I probably damaging Het
St7l A G 3: 104,775,363 (GRCm39) T80A probably damaging Het
Stk32b T A 5: 37,689,031 (GRCm39) M98L possibly damaging Het
Tonsl C A 15: 76,508,350 (GRCm39) A6S possibly damaging Het
Tpx2 A G 2: 152,711,611 (GRCm39) R49G probably benign Het
Trmt2a A G 16: 18,067,758 (GRCm39) K144E possibly damaging Het
Trpm7 A C 2: 126,654,697 (GRCm39) L1414V probably benign Het
Ugdh T C 5: 65,580,939 (GRCm39) K107E possibly damaging Het
Vamp3 A T 4: 151,135,366 (GRCm39) probably benign Het
Vmn1r172 T C 7: 23,359,651 (GRCm39) S179P probably damaging Het
Vmn1r28 A G 6: 58,242,963 (GRCm39) M269V probably benign Het
Vmn2r94 T C 17: 18,464,476 (GRCm39) T605A probably benign Het
Vwce A G 19: 10,615,520 (GRCm39) T134A possibly damaging Het
Zfp277 T C 12: 40,495,745 (GRCm39) E5G probably benign Het
Other mutations in Brf2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL03371:Brf2 APN 8 27,615,872 (GRCm39) missense probably benign 0.11
R0179:Brf2 UTSW 8 27,615,896 (GRCm39) missense possibly damaging 0.73
R0615:Brf2 UTSW 8 27,614,059 (GRCm39) missense probably benign 0.00
R1066:Brf2 UTSW 8 27,613,974 (GRCm39) missense probably benign 0.34
R3766:Brf2 UTSW 8 27,614,496 (GRCm39) missense possibly damaging 0.50
R5546:Brf2 UTSW 8 27,614,311 (GRCm39) missense possibly damaging 0.67
R5716:Brf2 UTSW 8 27,616,074 (GRCm39) missense probably benign
R6965:Brf2 UTSW 8 27,614,586 (GRCm39) missense probably benign 0.34
R7903:Brf2 UTSW 8 27,616,121 (GRCm39) missense possibly damaging 0.77
R7923:Brf2 UTSW 8 27,614,218 (GRCm39) nonsense probably null
R8184:Brf2 UTSW 8 27,614,013 (GRCm39) missense possibly damaging 0.81
R8282:Brf2 UTSW 8 27,614,621 (GRCm39) missense
R8365:Brf2 UTSW 8 27,618,566 (GRCm39) missense possibly damaging 0.91
R8704:Brf2 UTSW 8 27,618,499 (GRCm39) missense possibly damaging 0.84
R8848:Brf2 UTSW 8 27,616,140 (GRCm39) missense probably benign
R9293:Brf2 UTSW 8 27,614,021 (GRCm39) missense probably damaging 1.00
R9548:Brf2 UTSW 8 27,614,623 (GRCm39) missense probably benign 0.02
X0026:Brf2 UTSW 8 27,616,079 (GRCm39) missense probably benign
Z1088:Brf2 UTSW 8 27,614,019 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- CATTTAACTGTGCGCATGGCC -3'
(R):5'- AGCAAACTGCCAGCCGATTG -3'

Sequencing Primer
(F):5'- AGCTGGGTTTAAGGACTCCAC -3'
(R):5'- GCCCAGTTACAAGTTCTC -3'
Posted On 2014-06-30