Incidental Mutation 'IGL01066:Polr1b'
ID50392
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Polr1b
Ensembl Gene ENSMUSG00000027395
Gene Namepolymerase (RNA) I polypeptide B
Synonyms128kDa, RPA116, RPA2, D630020H17Rik, Rpo1-2
Accession Numbers

Ncbi RefSeq: NM_009086.2; MGI:108014

Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL01066
Quality Score
Status
Chromosome2
Chromosomal Location129100995-129126594 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to T at 129119152 bp
ZygosityHeterozygous
Amino Acid Change Serine to Leucine at position 677 (S677L)
Ref Sequence ENSEMBL: ENSMUSP00000099494 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000028874] [ENSMUST00000103205]
Predicted Effect probably damaging
Transcript: ENSMUST00000028874
AA Change: S677L

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000028874
Gene: ENSMUSG00000027395
AA Change: S677L

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 damaging
Transcript: ENSMUST00000103205
AA Change: S677L

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000099494
Gene: ENSMUSG00000027395
AA Change: S677L

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: ENSMUST00000133345
Predicted Effect noncoding transcript
Transcript: ENSMUST00000144004
Predicted Effect noncoding transcript
Transcript: ENSMUST00000147727
Coding Region Coverage
Validation Efficiency
MGI Phenotype Strain: 3774130
Lethality: E2-E4
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: 58 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1110038F14Rik G A 15: 76,950,275 V124I probably damaging Het
2300003K06Rik T A 11: 99,837,628 R130* probably null Het
9030624J02Rik T A 7: 118,773,011 probably null Het
Abca12 T A 1: 71,353,730 R117W possibly damaging Het
Agrn A G 4: 156,177,343 S497P probably benign Het
Alpk1 A T 3: 127,680,225 S710T probably benign Het
Anapc4 T A 5: 52,857,209 N471K probably benign Het
Ano3 A T 2: 110,661,445 M879K probably null Het
Apoe A G 7: 19,696,600 L239P probably damaging Het
Ash1l T C 3: 88,984,635 Y1274H probably damaging Het
B3glct C T 5: 149,709,425 T80I possibly damaging Het
Casc1 C T 6: 145,176,222 G624S probably damaging Het
Ccdc146 T C 5: 21,319,542 T271A probably benign Het
Chd8 T A 14: 52,217,766 N1088I probably damaging Het
Csnk1g2 T C 10: 80,634,647 probably benign Het
Daxx T A 17: 33,913,893 V627D probably benign Het
Dpy19l3 A G 7: 35,692,767 probably benign Het
Enc1 A G 13: 97,245,314 I111V probably benign Het
Ep400 A G 5: 110,668,199 probably benign Het
Fig4 T C 10: 41,285,417 probably benign Het
Fkbp7 A T 2: 76,672,908 L36* probably null Het
Fxn A T 19: 24,267,298 probably benign Het
Gm10152 C T 7: 144,763,256 P16L unknown Het
Hivep2 T C 10: 14,149,024 V2194A possibly damaging Het
Hook3 T G 8: 26,048,298 E525A probably damaging Het
Icam1 A G 9: 21,016,105 probably null Het
Ifngr1 C T 10: 19,609,198 T315I probably damaging Het
Igsf10 A G 3: 59,327,782 probably null Het
Krt87 A G 15: 101,438,385 probably null Het
Lama1 T A 17: 67,743,326 C311S probably damaging Het
Lig3 T A 11: 82,797,315 M714K possibly damaging Het
Lrmp T C 6: 145,160,955 S222P probably damaging Het
Lypd5 C T 7: 24,353,485 T189I probably benign Het
Mapk8ip3 C T 17: 24,901,718 G807D probably benign Het
Met T C 6: 17,535,105 probably null Het
Nlrp4g C A 9: 124,349,526 noncoding transcript Het
Nlrp6 T A 7: 140,921,796 V62D possibly damaging Het
Nme7 A G 1: 164,345,430 probably null Het
Olfr1034 A G 2: 86,047,258 R259G probably damaging Het
Olfr1392 T C 11: 49,293,630 I103T possibly damaging Het
Olfr507 T C 7: 108,621,857 F15S probably damaging Het
Pcnx G A 12: 81,992,021 R2020Q possibly damaging Het
Pdzd2 T A 15: 12,402,632 probably benign Het
Pi4ka A G 16: 17,348,773 probably benign Het
Pkdrej T G 15: 85,816,159 I1859L probably benign Het
Plcg1 A T 2: 160,754,398 H638L probably damaging Het
Ppef2 A G 5: 92,234,237 L533P probably damaging Het
Sh3rf1 T A 8: 61,329,336 W171R probably damaging Het
Son T C 16: 91,660,136 probably benign Het
Sycp1 A G 3: 102,920,634 S266P probably damaging Het
Tedc1 A G 12: 113,163,150 E344G probably damaging Het
Tkfc T C 19: 10,594,528 I381M probably benign Het
Tmprss6 T C 15: 78,442,434 D1G probably null Het
Ttn T C 2: 76,752,426 T22708A probably damaging Het
Ubtf T C 11: 102,308,884 probably benign Het
Vwc2l T C 1: 70,728,911 F45L probably damaging Het
Xpo7 T C 14: 70,701,755 T154A probably benign Het
Yars2 C T 16: 16,306,542 R338* probably null Het
Other mutations in Polr1b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00489:Polr1b APN 2 129125909 missense probably damaging 1.00
IGL00559:Polr1b APN 2 129113731 missense probably damaging 1.00
IGL00659:Polr1b APN 2 129118100 critical splice donor site probably null
IGL00672:Polr1b APN 2 129125472 missense probably damaging 1.00
IGL01536:Polr1b APN 2 129125555 missense probably benign 0.00
IGL01596:Polr1b APN 2 129110126 missense probably benign 0.38
IGL02156:Polr1b APN 2 129123879 missense probably benign 0.40
IGL02398:Polr1b APN 2 129102966 missense probably benign 0.03
IGL02797:Polr1b APN 2 129102979 missense probably damaging 0.99
IGL02965:Polr1b APN 2 129125523 missense probably benign 0.41
IGL03009:Polr1b APN 2 129126068 missense probably damaging 1.00
IGL03092:Polr1b APN 2 129123129 missense probably damaging 1.00
IGL03129:Polr1b APN 2 129115707 missense probably benign 0.00
IGL03138:Polr1b UTSW 2 129102988 missense probably benign 0.04
PIT4362001:Polr1b UTSW 2 129109292 missense possibly damaging 0.84
R0038:Polr1b UTSW 2 129115668 nonsense probably null
R0038:Polr1b UTSW 2 129115668 nonsense probably null
R0989:Polr1b UTSW 2 129126077 missense probably damaging 0.97
R1508:Polr1b UTSW 2 129113734 missense probably benign 0.24
R1539:Polr1b UTSW 2 129118099 critical splice donor site probably null
R1700:Polr1b UTSW 2 129123121 missense probably damaging 0.99
R1843:Polr1b UTSW 2 129102966 missense probably benign 0.03
R1920:Polr1b UTSW 2 129101111 missense probably benign 0.00
R2414:Polr1b UTSW 2 129103134 splice site probably benign
R3020:Polr1b UTSW 2 129115681 missense probably benign 0.01
R3837:Polr1b UTSW 2 129119107 missense possibly damaging 0.78
R4466:Polr1b UTSW 2 129123882 missense probably benign 0.03
R4773:Polr1b UTSW 2 129105328 missense probably benign 0.29
R4789:Polr1b UTSW 2 129109337 missense probably benign 0.00
R5027:Polr1b UTSW 2 129123883 missense possibly damaging 0.94
R5579:Polr1b UTSW 2 129110108 missense probably damaging 1.00
R5705:Polr1b UTSW 2 129105351 nonsense probably null
R6303:Polr1b UTSW 2 129115762 missense probably damaging 1.00
R6313:Polr1b UTSW 2 129125446 missense probably damaging 1.00
R6427:Polr1b UTSW 2 129123261 missense probably damaging 0.99
R6677:Polr1b UTSW 2 129120211 intron probably benign
R7033:Polr1b UTSW 2 129115642 missense possibly damaging 0.82
R7163:Polr1b UTSW 2 129126011 missense probably benign 0.44
R7184:Polr1b UTSW 2 129123922 missense possibly damaging 0.94
Posted On2013-06-21