Incidental Mutation 'R1307:Polr3f'
ID 157820
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 039373-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R1307 (G1)
Quality Score 225
Status Not validated
Chromosome 2
Chromosomal Location 144369665-144383699 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 144375113 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 95 (V95A)
Ref Sequence ENSEMBL: ENSMUSP00000105644 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000028914] [ENSMUST00000110017]
AlphaFold Q921X6
Predicted Effect probably damaging
Transcript: ENSMUST00000028914
AA Change: V95A

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000028914
Gene: ENSMUSG00000027427
AA Change: V95A

DomainStartEndE-ValueType
Pfam:RNA_pol_Rpc34 1 315 6.8e-109 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000110017
AA Change: V95A

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000105644
Gene: ENSMUSG00000027427
AA Change: V95A

DomainStartEndE-ValueType
Pfam:RNA_pol_Rpc34 1 105 6.2e-20 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000134051
Predicted Effect noncoding transcript
Transcript: ENSMUST00000136999
Predicted Effect noncoding transcript
Transcript: ENSMUST00000143292
Predicted Effect noncoding transcript
Transcript: ENSMUST00000152311
Predicted Effect noncoding transcript
Transcript: ENSMUST00000155567
Coding Region Coverage
  • 1x: 98.9%
  • 3x: 98.0%
  • 10x: 95.6%
  • 20x: 91.4%
Validation Efficiency
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: 23 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ascc1 A T 10: 59,848,321 (GRCm39) I83L probably benign Het
Bcl2a1b T C 9: 89,081,543 (GRCm39) V44A probably damaging Het
Bdp1 T C 13: 100,186,271 (GRCm39) D1727G possibly damaging Het
Cabp1 A G 5: 115,310,965 (GRCm39) F294L probably damaging Het
Coq8b T A 7: 26,950,016 (GRCm39) M365K probably damaging Het
Gk2 A T 5: 97,603,268 (GRCm39) D523E probably benign Het
Havcr1 C T 11: 46,647,097 (GRCm39) T177I probably damaging Het
Kdm4a T C 4: 118,032,839 (GRCm39) T76A probably benign Het
Lama4 A T 10: 38,946,028 (GRCm39) I804F probably benign Het
Ntn4 C T 10: 93,543,215 (GRCm39) R314W probably damaging Het
Pcdh10 A G 3: 45,336,314 (GRCm39) N876S probably benign Het
Ptk2 A G 15: 73,163,895 (GRCm39) V389A probably benign Het
Rhof T C 5: 123,258,378 (GRCm39) E151G probably damaging Het
Slc25a28 T C 19: 43,655,470 (GRCm39) N135S probably benign Het
Sphk1 G A 11: 116,426,928 (GRCm39) V295I probably benign Het
Sv2b G T 7: 74,856,182 (GRCm39) T36K probably damaging Het
Sybu T C 15: 44,538,786 (GRCm39) E291G probably damaging Het
Tnc T C 4: 63,927,096 (GRCm39) E810G probably damaging Het
Uba52 T C 8: 70,961,166 (GRCm39) H68R probably damaging Het
Unc79 A G 12: 103,036,335 (GRCm39) N552S probably damaging Het
Ush2a T C 1: 188,090,164 (GRCm39) C416R probably damaging Het
Ush2a T C 1: 188,184,037 (GRCm39) V1447A probably damaging Het
Zfp985 C T 4: 147,667,704 (GRCm39) L191F 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
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
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'- CCCAGAGGACCTGCTCTTGGTAAT -3'
(R):5'- GCATGTAACAGGATATGCCTGCAATCT -3'

Sequencing Primer
(F):5'- tttttccctttctttctcgctc -3'
(R):5'- GCCTGCAATCTCAAATATCAGGAAG -3'
Posted On 2014-02-18