Incidental Mutation 'R1340:Polr3f'
ID 156985
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 039405-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R1340 (G1)
Quality Score 225
Status Validated
Chromosome 2
Chromosomal Location 144369665-144383699 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 144380548 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Arginine at position 297 (H297R)
Ref Sequence ENSEMBL: ENSMUSP00000028914 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000028914] [ENSMUST00000028915] [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: H297R

PolyPhen 2 Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)
SMART Domains Protein: ENSMUSP00000028914
Gene: ENSMUSG00000027427
AA Change: H297R

DomainStartEndE-ValueType
Pfam:RNA_pol_Rpc34 1 315 6.8e-109 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000028915
SMART Domains Protein: ENSMUSP00000028915
Gene: ENSMUSG00000027428

DomainStartEndE-ValueType
Pfam:Abhydrolase_5 7 166 5.8e-11 PFAM
Pfam:Ser_hydrolase 7 183 2.7e-17 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
Meta Mutation Damage Score 0.0725 question?
Coding Region Coverage
  • 1x: 98.9%
  • 3x: 98.0%
  • 10x: 95.4%
  • 20x: 89.9%
Validation Efficiency 100% (52/52)
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: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc9 A T 6: 142,628,581 (GRCm39) probably benign Het
Acat3 C T 17: 13,148,564 (GRCm39) probably benign Het
Actn1 T C 12: 80,219,918 (GRCm39) probably null Het
Adam8 G A 7: 139,571,290 (GRCm39) S38F probably damaging Het
Aldh9a1 T G 1: 167,184,913 (GRCm39) I275S probably benign Het
Alkbh2 C T 5: 114,262,287 (GRCm39) E148K probably damaging Het
Alms1 G A 6: 85,644,939 (GRCm39) probably null Het
Bltp3a A G 17: 28,113,695 (GRCm39) N1289S probably benign Het
Cacna1d A G 14: 29,794,024 (GRCm39) V1539A probably damaging Het
Cacna1e A G 1: 154,348,403 (GRCm39) L724P probably damaging Het
Ccdc110 A G 8: 46,395,218 (GRCm39) T370A probably benign Het
Ccdc9 G A 7: 16,009,315 (GRCm39) probably benign Het
Cep120 A T 18: 53,857,463 (GRCm39) V334E probably damaging Het
Ces3a C T 8: 105,784,545 (GRCm39) P462L probably damaging Het
Cgref1 A G 5: 31,102,690 (GRCm39) probably benign Het
Cndp1 G A 18: 84,652,777 (GRCm39) probably benign Het
Csrnp3 T A 2: 65,832,740 (GRCm39) F81Y probably damaging Het
Ddr2 T C 1: 169,825,653 (GRCm39) T316A probably benign Het
Dync1h1 G A 12: 110,602,943 (GRCm39) E2195K probably benign Het
Epb41l5 A T 1: 119,476,861 (GRCm39) *740R probably null Het
Gfpt2 A G 11: 49,723,688 (GRCm39) K559E probably damaging Het
Gm2381 A G 7: 42,469,828 (GRCm39) Y99H possibly damaging Het
Gsdma2 T C 11: 98,548,475 (GRCm39) V242A probably damaging Het
Lrp1b T C 2: 40,592,806 (GRCm39) N3771S probably benign Het
Lrriq4 A C 3: 30,704,472 (GRCm39) T167P possibly damaging Het
Mtarc2 T C 1: 184,554,744 (GRCm39) T254A probably benign Het
Naip2 G A 13: 100,325,630 (GRCm39) L93F possibly damaging Het
Nefh G GNNNNNNNNNNNNNNNNNN 11: 4,891,002 (GRCm39) probably benign Het
Nrp1 T C 8: 129,160,836 (GRCm39) S321P probably damaging Het
Nt5c1b T C 12: 10,427,276 (GRCm39) V342A probably damaging Het
Nt5c3 A G 6: 56,860,018 (GRCm39) M273T probably benign Het
Or12j2 A G 7: 139,916,038 (GRCm39) T88A probably benign Het
Or1l4b T G 2: 37,036,769 (GRCm39) L182V probably benign Het
Or6b1 G A 6: 42,814,943 (GRCm39) V43M probably benign Het
Ptgs2 T G 1: 149,981,228 (GRCm39) F504V probably damaging Het
Ptpro C T 6: 137,418,079 (GRCm39) P142L possibly damaging Het
Rps17 A G 7: 80,993,481 (GRCm39) probably null Het
Ryr1 A G 7: 28,815,437 (GRCm39) S132P probably damaging Het
Sacs T C 14: 61,441,958 (GRCm39) S1335P probably damaging Het
Senp6 T C 9: 80,029,305 (GRCm39) V383A possibly damaging Het
Skint7 T C 4: 111,837,416 (GRCm39) F65L probably damaging Het
Slc35f1 T C 10: 52,965,550 (GRCm39) Y322H probably damaging Het
Slc38a4 C A 15: 96,908,153 (GRCm39) probably benign Het
Sned1 G A 1: 93,209,376 (GRCm39) V830M possibly damaging Het
Sox15 T A 11: 69,546,373 (GRCm39) S59T probably damaging Het
Srcap T A 7: 127,159,910 (GRCm39) probably benign Het
Txlnb A T 10: 17,718,488 (GRCm39) I440F probably damaging Het
Vmn1r178 A G 7: 23,593,281 (GRCm39) S37G probably benign Het
Vmn2r75 T C 7: 85,797,798 (GRCm39) T672A probably damaging Het
Wscd1 T C 11: 71,659,586 (GRCm39) V222A probably benign 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
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
R8214:Polr3f UTSW 2 144,378,230 (GRCm39) missense probably benign 0.00
R8546:Polr3f UTSW 2 144,374,284 (GRCm39) missense probably damaging 0.99
Predicted Primers PCR Primer
(F):5'- CCATGACCACAAAGTAGGCACTGTTAC -3'
(R):5'- TATGGAGGCACACTCCCCTGAAAG -3'

Sequencing Primer
(F):5'- CACAAAGTAGGCACTGTTACAGTATG -3'
(R):5'- TGGTGGTAATAACCCCGATG -3'
Posted On 2014-02-11