Incidental Mutation 'R6601:Polr1d'
ID525255
Institutional Source Beutler Lab
Gene Symbol Polr1d
Ensembl Gene ENSMUSG00000029642
Gene Namepolymerase (RNA) I polypeptide D
Synonyms1110003G10Rik, 16kDa, mRPA16, Rpo1-3
MMRRC Submission
Accession Numbers
Is this an essential gene? Probably essential (E-score: 0.909) question?
Stock #R6601 (G1)
Quality Score225.009
Status Validated
Chromosome5
Chromosomal Location147077050-147111597 bp(+) (GRCm38)
Type of Mutationnonsense
DNA Base Change (assembly) T to A at 147078549 bp
ZygosityHeterozygous
Amino Acid Change Leucine to Stop codon at position 14 (L14*)
Ref Sequence ENSEMBL: ENSMUSP00000058355 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000016664] [ENSMUST00000050970] [ENSMUST00000110557] [ENSMUST00000200993] [ENSMUST00000202444]
Predicted Effect probably benign
Transcript: ENSMUST00000016664
SMART Domains Protein: ENSMUSP00000016664
Gene: ENSMUSG00000016520

DomainStartEndE-ValueType
RING 51 88 2.06e-6 SMART
low complexity region 103 114 N/A INTRINSIC
PDZ 242 317 2.25e-17 SMART
PDZ 348 421 2.97e-17 SMART
PDZ 474 553 7.37e-13 SMART
PDZ 606 683 1.27e-16 SMART
Predicted Effect probably null
Transcript: ENSMUST00000050970
AA Change: L14*
SMART Domains Protein: ENSMUSP00000058355
Gene: ENSMUSG00000029642
AA Change: L14*

DomainStartEndE-ValueType
Pfam:RNA_pol_L_2 39 113 5.6e-30 PFAM
Pfam:RNA_pol_L 41 107 4.7e-13 PFAM
low complexity region 116 129 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000110557
SMART Domains Protein: ENSMUSP00000106186
Gene: ENSMUSG00000029642

DomainStartEndE-ValueType
low complexity region 105 116 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000200993
Predicted Effect probably benign
Transcript: ENSMUST00000202444
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.5%
  • 10x: 97.7%
  • 20x: 93.0%
Validation Efficiency 98% (41/42)
MGI Phenotype FUNCTION: This gene encodes an RNA polymerase subunit that is a component of both the RNA polymerase I and RNA polymerase III complexes. RNA polymerase I is associated with transcription of pre-ribosomal RNAs, while RNA polymerase III is associated with transcription of small RNAs. Pseudogenes of this gene have been defined on chromosomes 4 and 6. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2013]
Allele List at MGI
Other mutations in this stock
Total: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aox1 T G 1: 58,063,506 L527R probably damaging Het
Ccdc172 T A 19: 58,537,291 C194S possibly damaging Het
Ccnb1ip1 G T 14: 50,793,664 T64K possibly damaging Het
Ces1b T C 8: 93,079,481 E44G probably benign Het
Coro2a A T 4: 46,543,421 Y317* probably null Het
Csnk1a1 T C 18: 61,578,758 F281S probably damaging Het
Ddx28 A T 8: 106,010,616 probably null Het
Dtnbp1 A G 13: 44,931,245 probably null Het
Eif2s1 T C 12: 78,883,352 I258T possibly damaging Het
Elp3 T C 14: 65,547,039 *554W probably null Het
Golga1 T C 2: 39,020,106 M610V probably damaging Het
Hc T A 2: 35,045,894 K156N probably benign Het
Hcls1 G A 16: 36,962,386 G428D probably benign Het
Il16 T C 7: 83,722,469 D43G probably damaging Het
Klhl3 C A 13: 58,095,116 K91N probably damaging Het
L3mbtl1 C T 2: 162,948,175 probably benign Het
Lamc3 T C 2: 31,920,532 F805L possibly damaging Het
Lipg T C 18: 74,948,204 M269V probably benign Het
Ly75 G A 2: 60,318,376 T1203I probably benign Het
Mat1a T A 14: 41,105,604 V5E probably benign Het
Muc16 A T 9: 18,637,570 L5809Q probably benign Het
Naip6 G A 13: 100,283,758 R1335C probably benign Het
Ndufaf3 T C 9: 108,566,217 H128R probably benign Het
Nphp4 A T 4: 152,503,007 probably null Het
Olfr52 T A 2: 86,181,965 I49F probably damaging Het
Otop3 T C 11: 115,339,847 V148A probably damaging Het
Ovgp1 T C 3: 105,986,431 probably benign Het
Pcsk5 T G 19: 17,511,380 R1025S probably benign Het
Pkd1l2 T C 8: 117,040,666 D1295G probably benign Het
Rab26 T A 17: 24,529,621 K270* probably null Het
Rasgef1c T A 11: 49,971,419 N378K probably damaging Het
Rpl7a T C 2: 26,911,524 V76A probably benign Het
Samd9l T A 6: 3,377,229 I11F possibly damaging Het
Smarca2 C A 19: 26,654,377 Q531K probably benign Het
Styxl1 C G 5: 135,755,496 G211A probably benign Het
Taar9 T C 10: 24,109,047 Y163C probably damaging Het
Tmem198 T A 1: 75,480,373 F48I possibly damaging Het
Ttn T A 2: 76,764,729 N12032I probably damaging Het
Ubr7 T A 12: 102,761,464 C82S probably damaging Het
Wwtr1 T C 3: 57,575,738 E48G possibly damaging Het
Zfp108 T C 7: 24,261,394 V470A probably damaging Het
Zfp612 C A 8: 110,089,549 Q424K possibly damaging Het
Zscan4-ps1 T C 7: 11,068,834 T13A probably benign Het
Other mutations in Polr1d
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0208:Polr1d UTSW 5 147078680 splice site probably null
R5828:Polr1d UTSW 5 147077598 start gained probably benign
R6241:Polr1d UTSW 5 147078723 missense probably benign 0.08
Predicted Primers PCR Primer
(F):5'- GCAAACATTTAACTTGGTGGGG -3'
(R):5'- GGATGGGTCGTAGTGTAACC -3'

Sequencing Primer
(F):5'- TCTGAGATGACACCCCTCC -3'
(R):5'- GGGTCGTAGTGTAACCACAAAATTCC -3'
Posted On2018-06-22