Incidental Mutation 'IGL03383:Polr3k'
ID420771
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Polr3k
Ensembl Gene ENSMUSG00000038628
Gene Namepolymerase (RNA) III (DNA directed) polypeptide K
Synonyms12.3kDa, 1500004O14Rik, C11, RPC10, RPC11
Accession Numbers
Is this an essential gene? Probably essential (E-score: 0.967) question?
Stock #IGL03383
Quality Score
Status
Chromosome2
Chromosomal Location181864337-181870830 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 181866027 bp
ZygosityHeterozygous
Amino Acid Change Threonine to Alanine at position 65 (T65A)
Ref Sequence ENSEMBL: ENSMUSP00000044582 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000039551]
Predicted Effect probably damaging
Transcript: ENSMUST00000039551
AA Change: T65A

PolyPhen 2 Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000044582
Gene: ENSMUSG00000038628
AA Change: T65A

DomainStartEndE-ValueType
RPOL9 3 53 8.44e-19 SMART
ZnF_C2C2 67 108 8.14e-20 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000153214
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 a small essential subunit of RNA polymerase III, the polymerase responsible for synthesizing transfer and small ribosomal RNAs in eukaryotes. The carboxy-terminal domain of this subunit shares a high degree of sequence similarity to the carboxy-terminal domain of an RNA polymerase II elongation factor. This similarity in sequence is supported by functional studies showing that this subunit is required for proper pausing and termination during transcription. Pseudogenes of this gene are found on chromosomes 13 and 17.[provided by RefSeq, Jul 2010]
Allele List at MGI
Other mutations in this stock
Total: 34 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Agbl4 C T 4: 111,657,423 probably benign Het
Cit T C 5: 115,873,845 probably benign Het
Clmp A G 9: 40,774,441 N211S probably damaging Het
Cnot2 A G 10: 116,494,817 probably benign Het
Cntn6 A G 6: 104,776,457 probably benign Het
Dnajb9 C T 12: 44,208,313 probably benign Het
Ece2 T A 16: 20,633,097 N411K possibly damaging Het
Fam208a A G 14: 27,441,961 I235V possibly damaging Het
Fshr A G 17: 89,046,699 I77T possibly damaging Het
Fshr A G 17: 88,985,693 M519T probably damaging Het
Gm10654 G A 8: 70,932,131 noncoding transcript Het
Gm5093 A G 17: 46,439,591 I170T probably benign Het
Meis3 A G 7: 16,183,819 K299R probably damaging Het
Nxf1 T C 19: 8,763,697 F15L probably damaging Het
Nxpe3 T C 16: 55,849,713 D343G probably benign Het
Olfr1246 A T 2: 89,590,312 Y268N probably benign Het
Preb A T 5: 30,958,321 W222R probably damaging Het
Psmd11 T C 11: 80,469,845 I56T probably damaging Het
Rtkn2 A G 10: 68,017,837 T232A probably damaging Het
Scaf11 T C 15: 96,420,183 probably null Het
Slc4a10 A T 2: 62,267,436 K493M probably damaging Het
Stard10 A G 7: 101,342,570 K112E probably damaging Het
Sugp1 A T 8: 70,069,567 probably benign Het
Tmem156 T C 5: 65,075,697 E139G probably damaging Het
Tubd1 C T 11: 86,549,008 probably benign Het
Uap1 G A 1: 170,158,891 T174M probably damaging Het
Vmn2r13 T C 5: 109,156,532 T678A probably damaging Het
Vmn2r84 A T 10: 130,386,687 C555S probably damaging Het
Vps13d T C 4: 145,168,319 probably null Het
Vps8 T C 16: 21,435,823 probably null Het
Wee1 A G 7: 110,139,692 N590S probably damaging Het
Zfp112 C A 7: 24,125,678 S357Y probably damaging Het
Zfp423 T A 8: 87,859,452 K48* probably null Het
Zscan4d A G 7: 11,162,765 V226A probably benign Het
Other mutations in Polr3k
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01787:Polr3k APN 2 181864458 utr 5 prime probably benign
R4214:Polr3k UTSW 2 181868242 missense probably benign 0.02
R4779:Polr3k UTSW 2 181864547 missense probably damaging 1.00
R6056:Polr3k UTSW 2 181864488 missense probably damaging 0.99
Posted On2016-08-02