Incidental Mutation 'IGL02965:Polr1b'
ID 365522
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Polr1b
Ensembl Gene ENSMUSG00000027395
Gene Name polymerase (RNA) I polypeptide B
Synonyms Rpo1-2, RPA116, 128kDa, RPA2, D630020H17Rik
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL02965
Quality Score
Status
Chromosome 2
Chromosomal Location 128942915-128968514 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 128967443 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Glutamine at position 945 (H945Q)
Ref Sequence ENSEMBL: ENSMUSP00000099494 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000028874] [ENSMUST00000035481] [ENSMUST00000103205]
AlphaFold P70700
Predicted Effect probably benign
Transcript: ENSMUST00000028874
SMART Domains Protein: ENSMUSP00000028874
Gene: ENSMUSG00000027395

DomainStartEndE-ValueType
Pfam:RNA_pol_Rpb2_1 37 437 4.6e-35 PFAM
Pfam:RNA_pol_Rpb2_2 186 375 8.9e-14 PFAM
Pfam:RNA_pol_Rpb2_3 455 521 1.4e-28 PFAM
Pfam:RNA_pol_Rpa2_4 563 621 3.6e-25 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000035481
SMART Domains Protein: ENSMUSP00000044253
Gene: ENSMUSG00000037938

DomainStartEndE-ValueType
PDB:2LQL|A 1 110 2e-69 PDB
Predicted Effect probably benign
Transcript: ENSMUST00000103205
AA Change: H945Q

PolyPhen 2 Score 0.411 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000099494
Gene: ENSMUSG00000027395
AA Change: H945Q

DomainStartEndE-ValueType
Pfam:RNA_pol_Rpb2_1 37 423 1.7e-35 PFAM
Pfam:RNA_pol_Rpb2_2 186 375 3.2e-11 PFAM
Pfam:RNA_pol_Rpb2_3 455 520 2.1e-29 PFAM
Pfam:RNA_pol_Rpa2_4 563 621 4.1e-23 PFAM
Pfam:RNA_pol_Rpb2_6 670 1031 9.7e-118 PFAM
Pfam:RNA_pol_Rpb2_7 1033 1135 1.2e-22 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000137881
Predicted Effect noncoding transcript
Transcript: ENSMUST00000144004
Predicted Effect noncoding transcript
Transcript: ENSMUST00000147727
Predicted Effect noncoding transcript
Transcript: ENSMUST00000149118
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Eukaryotic RNA polymerase I (pol I) is responsible for the transcription of ribosomal RNA (rRNA) genes and production of rRNA, the primary component of ribosomes. Pol I is a multisubunit enzyme composed of 6 to 14 polypeptides, depending on the species. Most of the mass of the pol I complex derives from the 2 largest subunits, Rpa1 and Rpa2 in yeast. POLR1B is homologous to Rpa2 (Seither and Grummt, 1996 [PubMed 8921381]).[supplied by OMIM, Mar 2008]
PHENOTYPE: Mice homozygous for a gene trapped allele exhibit embryonic lethality prior to implantation. [provided by MGI curators]
Allele List at MGI

All alleles(18) : Gene trapped(18)

Other mutations in this stock
Total: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca6 T C 11: 110,071,439 (GRCm39) K1471R probably benign Het
Add1 A G 5: 34,777,467 (GRCm39) S77G probably damaging Het
Atm G T 9: 53,364,863 (GRCm39) N2642K probably damaging Het
Atp6v0a2 T A 5: 124,767,267 (GRCm39) M10K possibly damaging Het
Btd T A 14: 31,389,193 (GRCm39) S305T probably damaging Het
Cmya5 C T 13: 93,229,065 (GRCm39) V2008I probably benign Het
Cpd T G 11: 76,681,814 (GRCm39) probably benign Het
Dis3l A G 9: 64,217,766 (GRCm39) F772L probably damaging Het
Dlg5 A T 14: 24,222,091 (GRCm39) I517N probably damaging Het
Fig4 G A 10: 41,161,661 (GRCm39) T34M probably damaging Het
Flna C T X: 73,270,816 (GRCm39) V2235I probably damaging Het
Flot2 T C 11: 77,950,031 (GRCm39) I371T possibly damaging Het
Fsip2 G A 2: 82,813,398 (GRCm39) S3239N probably benign Het
Gbp3 A G 3: 142,273,343 (GRCm39) I297V probably benign Het
Gcnt3 T C 9: 69,942,235 (GRCm39) E111G probably benign Het
Gdi1 G T X: 73,351,331 (GRCm39) A148S probably benign Het
Heatr5b G A 17: 79,060,502 (GRCm39) H2058Y probably benign Het
Hsp90aa1 A G 12: 110,662,113 (GRCm39) M1T probably null Het
Il22b A G 10: 118,130,762 (GRCm39) S45P probably damaging Het
Inppl1 C A 7: 101,477,478 (GRCm39) V715F possibly damaging Het
Kansl1 T C 11: 104,225,991 (GRCm39) Y975C probably damaging Het
Kif18b A G 11: 102,807,338 (GRCm39) probably benign Het
Krt40 T A 11: 99,432,492 (GRCm39) R175W probably damaging Het
Map3k19 T C 1: 127,751,803 (GRCm39) D516G probably damaging Het
Mfsd3 A G 15: 76,587,352 (GRCm39) H345R probably benign Het
Mlkl A T 8: 112,058,469 (GRCm39) I162N probably benign Het
Mtnr1a A T 8: 45,522,419 (GRCm39) N58I probably damaging Het
Nsmf T C 2: 24,951,774 (GRCm39) V499A probably damaging Het
Nudt6 A G 3: 37,473,655 (GRCm39) L22P probably damaging Het
Nxf7 T G X: 134,490,159 (GRCm39) E35A probably damaging Het
Or11h23 A C 14: 50,948,653 (GRCm39) I289L probably damaging Het
Paf1 T C 7: 28,095,629 (GRCm39) probably null Het
Pcdhb11 G T 18: 37,557,021 (GRCm39) V784L probably benign Het
Pglyrp2 T C 17: 32,637,560 (GRCm39) D156G probably benign Het
Pnpt1 A G 11: 29,106,939 (GRCm39) D670G probably damaging Het
Ptk6 C T 2: 180,840,861 (GRCm39) probably benign Het
Rftn1 C T 17: 50,362,280 (GRCm39) E273K probably benign Het
Rnf125 A G 18: 21,116,168 (GRCm39) I117V probably benign Het
Robo4 A G 9: 37,321,765 (GRCm39) K742R possibly damaging Het
Sez6l T C 5: 112,623,440 (GRCm39) E37G probably damaging Het
Skint4 A T 4: 111,993,218 (GRCm39) I306L probably benign Het
Sntb1 A T 15: 55,506,081 (GRCm39) Y497* probably null Het
Snx27 C A 3: 94,489,733 (GRCm39) V42L probably damaging Het
Sorbs1 T A 19: 40,365,187 (GRCm39) T199S probably benign Het
Sorcs2 A G 5: 36,235,301 (GRCm39) Y72H probably benign Het
Spef2 G T 15: 9,725,192 (GRCm39) probably benign Het
Sucla2 G T 14: 73,816,871 (GRCm39) V204L probably benign Het
Tescl C A 7: 24,033,098 (GRCm39) V76F probably damaging Het
Tnxb T A 17: 34,928,628 (GRCm39) Y2681N possibly damaging Het
Usp42 T C 5: 143,713,769 (GRCm39) T2A probably damaging Het
Vdac3-ps1 T A 13: 18,205,431 (GRCm39) noncoding transcript Het
Wapl T A 14: 34,461,181 (GRCm39) probably benign Het
Other mutations in Polr1b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00489:Polr1b APN 2 128,967,829 (GRCm39) missense probably damaging 1.00
IGL00559:Polr1b APN 2 128,955,651 (GRCm39) missense probably damaging 1.00
IGL00659:Polr1b APN 2 128,960,020 (GRCm39) critical splice donor site probably null
IGL00672:Polr1b APN 2 128,967,392 (GRCm39) missense probably damaging 1.00
IGL01066:Polr1b APN 2 128,961,072 (GRCm39) missense probably damaging 1.00
IGL01536:Polr1b APN 2 128,967,475 (GRCm39) missense probably benign 0.00
IGL01596:Polr1b APN 2 128,952,046 (GRCm39) missense probably benign 0.38
IGL02156:Polr1b APN 2 128,965,799 (GRCm39) missense probably benign 0.40
IGL02398:Polr1b APN 2 128,944,886 (GRCm39) missense probably benign 0.03
IGL02797:Polr1b APN 2 128,944,899 (GRCm39) missense probably damaging 0.99
IGL03009:Polr1b APN 2 128,967,988 (GRCm39) missense probably damaging 1.00
IGL03092:Polr1b APN 2 128,965,049 (GRCm39) missense probably damaging 1.00
IGL03129:Polr1b APN 2 128,957,627 (GRCm39) missense probably benign 0.00
IGL03138:Polr1b UTSW 2 128,944,908 (GRCm39) missense probably benign 0.04
PIT4362001:Polr1b UTSW 2 128,951,212 (GRCm39) missense possibly damaging 0.84
R0038:Polr1b UTSW 2 128,957,588 (GRCm39) nonsense probably null
R0038:Polr1b UTSW 2 128,957,588 (GRCm39) nonsense probably null
R0989:Polr1b UTSW 2 128,967,997 (GRCm39) missense probably damaging 0.97
R1508:Polr1b UTSW 2 128,955,654 (GRCm39) missense probably benign 0.24
R1539:Polr1b UTSW 2 128,960,019 (GRCm39) critical splice donor site probably null
R1700:Polr1b UTSW 2 128,965,041 (GRCm39) missense probably damaging 0.99
R1843:Polr1b UTSW 2 128,944,886 (GRCm39) missense probably benign 0.03
R1920:Polr1b UTSW 2 128,943,031 (GRCm39) missense probably benign 0.00
R2414:Polr1b UTSW 2 128,945,054 (GRCm39) splice site probably benign
R3020:Polr1b UTSW 2 128,957,601 (GRCm39) missense probably benign 0.01
R3837:Polr1b UTSW 2 128,961,027 (GRCm39) missense possibly damaging 0.78
R4466:Polr1b UTSW 2 128,965,802 (GRCm39) missense probably benign 0.03
R4773:Polr1b UTSW 2 128,947,248 (GRCm39) missense probably benign 0.29
R4789:Polr1b UTSW 2 128,951,257 (GRCm39) missense probably benign 0.00
R5027:Polr1b UTSW 2 128,965,803 (GRCm39) missense possibly damaging 0.94
R5579:Polr1b UTSW 2 128,952,028 (GRCm39) missense probably damaging 1.00
R5705:Polr1b UTSW 2 128,947,271 (GRCm39) nonsense probably null
R6303:Polr1b UTSW 2 128,957,682 (GRCm39) missense probably damaging 1.00
R6313:Polr1b UTSW 2 128,967,366 (GRCm39) missense probably damaging 1.00
R6427:Polr1b UTSW 2 128,965,181 (GRCm39) missense probably damaging 0.99
R6677:Polr1b UTSW 2 128,962,131 (GRCm39) intron probably benign
R7033:Polr1b UTSW 2 128,957,562 (GRCm39) missense possibly damaging 0.82
R7163:Polr1b UTSW 2 128,967,931 (GRCm39) missense probably benign 0.44
R7184:Polr1b UTSW 2 128,965,842 (GRCm39) missense possibly damaging 0.94
R7376:Polr1b UTSW 2 128,960,993 (GRCm39) missense probably benign 0.00
R7453:Polr1b UTSW 2 128,967,583 (GRCm39) missense probably damaging 1.00
R7545:Polr1b UTSW 2 128,959,766 (GRCm39) splice site probably null
R7770:Polr1b UTSW 2 128,967,464 (GRCm39) missense probably damaging 1.00
R7772:Polr1b UTSW 2 128,967,464 (GRCm39) missense probably damaging 1.00
R7774:Polr1b UTSW 2 128,967,464 (GRCm39) missense probably damaging 1.00
R7776:Polr1b UTSW 2 128,967,464 (GRCm39) missense probably damaging 1.00
R7777:Polr1b UTSW 2 128,967,464 (GRCm39) missense probably damaging 1.00
R7814:Polr1b UTSW 2 128,967,464 (GRCm39) missense probably damaging 1.00
R7825:Polr1b UTSW 2 128,967,464 (GRCm39) missense probably damaging 1.00
R7826:Polr1b UTSW 2 128,967,464 (GRCm39) missense probably damaging 1.00
R7827:Polr1b UTSW 2 128,967,464 (GRCm39) missense probably damaging 1.00
R7828:Polr1b UTSW 2 128,947,200 (GRCm39) missense probably damaging 1.00
R7959:Polr1b UTSW 2 128,950,014 (GRCm39) missense probably damaging 1.00
R8082:Polr1b UTSW 2 128,957,652 (GRCm39) missense probably benign 0.18
R8251:Polr1b UTSW 2 128,965,086 (GRCm39) missense probably damaging 1.00
R8696:Polr1b UTSW 2 128,967,571 (GRCm39) missense probably damaging 1.00
R8711:Polr1b UTSW 2 128,943,064 (GRCm39) missense probably damaging 0.99
R8746:Polr1b UTSW 2 128,954,597 (GRCm39) missense possibly damaging 0.70
R8823:Polr1b UTSW 2 128,967,457 (GRCm39) missense probably damaging 1.00
R8872:Polr1b UTSW 2 128,957,613 (GRCm39) missense probably damaging 1.00
R8901:Polr1b UTSW 2 128,967,595 (GRCm39) missense probably damaging 1.00
R8963:Polr1b UTSW 2 128,957,576 (GRCm39) missense probably benign
R9488:Polr1b UTSW 2 128,967,417 (GRCm39) missense probably damaging 1.00
R9499:Polr1b UTSW 2 128,957,684 (GRCm39) nonsense probably null
R9550:Polr1b UTSW 2 128,962,205 (GRCm39) missense unknown
R9551:Polr1b UTSW 2 128,957,684 (GRCm39) nonsense probably null
Posted On 2015-12-18