Incidental Mutation 'IGL01787:Polr3k'
ID155105
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: 0.962) question?
Stock #IGL01787
Quality Score
Status
Chromosome2
Chromosomal Location181864337-181870830 bp(+) (GRCm38)
Type of Mutationutr 5 prime
DNA Base Change (assembly) T to C at 181864458 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000044582 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000039551]
Predicted Effect probably benign
Transcript: ENSMUST00000039551
SMART Domains Protein: ENSMUSP00000044582
Gene: ENSMUSG00000038628

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: 22 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ahctf1 A G 1: 179,753,322 S1772P probably benign Het
Epsti1 T C 14: 77,972,612 probably null Het
Gm4758 T A 16: 36,311,229 Y34N probably damaging Het
Mtrr A T 13: 68,571,147 L325Q probably damaging Het
Neb T C 2: 52,296,355 K902E possibly damaging Het
Nfkbie T C 17: 45,556,263 L108P probably damaging Het
Olfr1263 A T 2: 90,015,311 Y127F probably damaging Het
Olfr136 T A 17: 38,335,579 C141S probably damaging Het
Pcdh15 A G 10: 74,450,283 D712G probably benign Het
Shkbp1 A C 7: 27,342,450 F660V possibly damaging Het
Smchd1 T C 17: 71,391,418 D1121G probably damaging Het
Srgap3 A T 6: 112,723,022 D998E probably benign Het
Stab1 T C 14: 31,139,808 D14G probably damaging Het
Tap1 T C 17: 34,196,604 S641P probably benign Het
Tgm3 C T 2: 130,047,740 S618F possibly damaging Het
Tgm6 T C 2: 130,151,434 probably benign Het
Tmco5 A T 2: 116,887,300 E194D probably damaging Het
Treml4 T A 17: 48,264,704 V45E probably damaging Het
Uggt2 A T 14: 119,081,734 M292K probably damaging Het
Usp5 A T 6: 124,824,226 D179E possibly damaging Het
Ythdf1 A G 2: 180,911,693 L216P probably damaging Het
Zfp948 C T 17: 21,587,071 A175V probably benign Het
Other mutations in Polr3k
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL03383:Polr3k APN 2 181866027 missense probably damaging 0.99
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 On2014-02-04