Incidental Mutation 'R8214:Polr3f'
ID 636300
Institutional Source Beutler Lab
Gene Symbol Polr3f
Ensembl Gene ENSMUSG00000027427
Gene Name polymerase (RNA) III (DNA directed) polypeptide F
Synonyms 3010019O03Rik, RPC39, RPC6, 3110032A07Rik, 2810411G20Rik
MMRRC Submission 067656-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R8214 (G1)
Quality Score 225.009
Status Validated
Chromosome 2
Chromosomal Location 144369665-144383699 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 144378230 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Aspartic acid at position 201 (N201D)
Ref Sequence ENSEMBL: ENSMUSP00000028914 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000028914] [ENSMUST00000110017]
AlphaFold Q921X6
PDB Structure Solution structure of rpc34 subunit in RNA polymerase III from mouse [SOLUTION NMR]
Predicted Effect probably benign
Transcript: ENSMUST00000028914
AA Change: N201D

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000028914
Gene: ENSMUSG00000027427
AA Change: N201D

DomainStartEndE-ValueType
Pfam:RNA_pol_Rpc34 1 315 6.8e-109 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000110017
SMART Domains Protein: ENSMUSP00000105644
Gene: ENSMUSG00000027427

DomainStartEndE-ValueType
Pfam:RNA_pol_Rpc34 1 105 6.2e-20 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000134051
Predicted Effect noncoding transcript
Transcript: ENSMUST00000143292
Predicted Effect noncoding transcript
Transcript: ENSMUST00000152311
Predicted Effect noncoding transcript
Transcript: ENSMUST00000155567
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.1%
Validation Efficiency 100% (42/42)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is one of more than a dozen subunits forming eukaryotic RNA polymerase III (RNA Pol III), which transcribes 5S ribosomal RNA and tRNA genes. This protein has been shown to bind both TFIIIB90 and TBP, two subunits of RNA polymerase III transcription initiation factor IIIB (TFIIIB). Unlike most of the other RNA Pol III subunits, the encoded protein is unique to this polymerase. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2013]
Allele List at MGI
Other mutations in this stock
Total: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930438A08Rik G A 11: 58,177,447 (GRCm39) R52Q Het
Abcc3 C T 11: 94,254,344 (GRCm39) R718H probably damaging Het
Abcc4 T C 14: 118,738,253 (GRCm39) M1166V probably benign Het
Abhd16b C T 2: 181,135,983 (GRCm39) T295I probably damaging Het
Amph A G 13: 19,288,468 (GRCm39) N319S possibly damaging Het
Ankrd27 A G 7: 35,313,944 (GRCm39) D425G probably damaging Het
Atg4b T C 1: 93,712,609 (GRCm39) S316P probably damaging Het
Brd4 A G 17: 32,431,921 (GRCm39) S649P probably benign Het
Bzw1 T C 1: 58,444,196 (GRCm39) S411P probably damaging Het
Carmil1 T C 13: 24,228,215 (GRCm39) E987G probably damaging Het
Dnah6 T C 6: 73,021,711 (GRCm39) D3537G probably damaging Het
Dnpep A T 1: 75,292,642 (GRCm39) W126R probably damaging Het
Efcab2 T C 1: 178,265,015 (GRCm39) V27A probably benign Het
Kctd21 T C 7: 96,996,548 (GRCm39) L7P probably damaging Het
Kidins220 C T 12: 25,044,854 (GRCm39) T216I probably damaging Het
Lpl T A 8: 69,345,257 (GRCm39) M87K probably damaging Het
Ltn1 A G 16: 87,177,691 (GRCm39) V1646A probably benign Het
Madcam1 A G 10: 79,502,592 (GRCm39) T359A probably benign Het
Muc5ac A G 7: 141,356,685 (GRCm39) K1092E possibly damaging Het
Nrg2 T C 18: 36,329,729 (GRCm39) E162G probably benign Het
Or10ak11 A T 4: 118,687,288 (GRCm39) F117L probably benign Het
Or52e2 A C 7: 102,804,613 (GRCm39) S114A probably damaging Het
Or5p54 T A 7: 107,554,174 (GRCm39) S109T probably benign Het
Pcdhb5 G T 18: 37,454,636 (GRCm39) V339L probably benign Het
Plec A G 15: 76,076,484 (GRCm39) W145R unknown Het
Skint5 T C 4: 113,662,139 (GRCm39) probably null Het
Slc12a2 A G 18: 58,070,791 (GRCm39) I1048V probably benign Het
Sult2a4 A G 7: 13,723,401 (GRCm39) I39T probably benign Het
Tenm4 T C 7: 96,544,614 (GRCm39) V2247A probably damaging Het
Tg C T 15: 66,645,247 (GRCm39) R2385C probably damaging Het
Tomm70a G T 16: 56,942,330 (GRCm39) A36S unknown Het
Top2b G A 14: 16,383,177 (GRCm38) R55H probably damaging Het
Tut4 A G 4: 108,369,347 (GRCm39) I636V probably benign Het
Unc45b A G 11: 82,824,714 (GRCm39) I629M possibly damaging Het
Vmn1r16 T C 6: 57,300,424 (GRCm39) E66G noncoding transcript Het
Vmn1r189 C T 13: 22,286,301 (GRCm39) V179I probably benign Het
Vmn2r105 T G 17: 20,448,775 (GRCm39) E134A probably benign Het
Wdr70 G A 15: 7,916,851 (GRCm39) A522V probably benign Het
Zfp184 T A 13: 22,142,995 (GRCm39) C234S probably damaging Het
Zscan5b C T 7: 6,236,946 (GRCm39) P232S possibly damaging Het
Other mutations in Polr3f
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0243:Polr3f UTSW 2 144,378,195 (GRCm39) unclassified probably benign
R0761:Polr3f UTSW 2 144,376,327 (GRCm39) missense probably damaging 1.00
R1307:Polr3f UTSW 2 144,375,113 (GRCm39) missense probably damaging 1.00
R1340:Polr3f UTSW 2 144,380,548 (GRCm39) missense probably benign 0.01
R1992:Polr3f UTSW 2 144,378,230 (GRCm39) missense probably benign 0.00
R4817:Polr3f UTSW 2 144,376,001 (GRCm39) makesense probably null
R6037:Polr3f UTSW 2 144,377,943 (GRCm39) missense probably damaging 0.98
R6037:Polr3f UTSW 2 144,377,943 (GRCm39) missense probably damaging 0.98
R6291:Polr3f UTSW 2 144,376,308 (GRCm39) missense probably damaging 1.00
R8546:Polr3f UTSW 2 144,374,284 (GRCm39) missense probably damaging 0.99
Predicted Primers PCR Primer
(F):5'- TCAAATTCCTACAAAGCAAGGTGAG -3'
(R):5'- TTCAGCAGGATGTGTGCCTG -3'

Sequencing Primer
(F):5'- GTGAGGTCATTAAGGAAACATCAC -3'
(R):5'- CAGGATGTGTGCCTGGAAGG -3'
Posted On 2020-07-13