Incidental Mutation 'IGL01536:Polr1b'
ID89952
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 #IGL01536
Quality Score
Status
Chromosome2
Chromosomal Location129100995-129126594 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 129125555 bp
ZygosityHeterozygous
Amino Acid Change Asparagine to Serine at position 956 (N956S)
Ref Sequence ENSEMBL: ENSMUSP00000099494 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000028874] [ENSMUST00000035481] [ENSMUST00000103205]
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: N956S

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000099494
Gene: ENSMUSG00000027395
AA Change: N956S

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 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: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Atp5a1 T C 18: 77,780,312 probably benign Het
Ccnc A G 4: 21,732,505 I81V probably benign Het
Cep112 A G 11: 108,531,411 D560G probably null Het
Dis3 A G 14: 99,079,423 Y826H probably damaging Het
Dtx2 A G 5: 136,010,086 probably benign Het
Enpp4 T C 17: 44,099,603 K361E possibly damaging Het
Erap1 A T 13: 74,662,423 K294* probably null Het
Erbb4 T A 1: 68,290,282 Y636F probably benign Het
Fads1 C A 19: 10,194,030 Q342K probably benign Het
Fntb A T 12: 76,920,130 T447S probably benign Het
Hdac4 A G 1: 91,930,146 probably benign Het
Kcnh2 A G 5: 24,326,524 I463T probably damaging Het
Kif13a G T 13: 46,752,289 T726K probably damaging Het
Lcmt1 T C 7: 123,422,743 S275P possibly damaging Het
Lmnb1 T C 18: 56,740,796 S425P probably benign Het
Lrp1b T C 2: 41,110,883 I2224V probably benign Het
Lrrc45 A T 11: 120,715,584 T173S probably benign Het
Muc4 T C 16: 32,763,966 Y2590H possibly damaging Het
Myo18a C T 11: 77,820,851 P676L probably damaging Het
Olfr1023 T C 2: 85,887,600 S267P probably damaging Het
Pcdhb15 T C 18: 37,474,993 M426T probably benign Het
Pik3cd A G 4: 149,652,666 V891A probably damaging Het
Ppil3 T C 1: 58,444,591 M1V probably null Het
Rad1 T A 15: 10,493,200 S238T possibly damaging Het
Shc3 A C 13: 51,516,559 S51A probably damaging Het
Slc9c1 T C 16: 45,589,629 probably null Het
Smg5 A G 3: 88,349,245 K273E possibly damaging Het
Sntg1 C T 1: 8,583,200 probably null Het
Sstr4 T C 2: 148,395,880 L137P probably damaging Het
Taar8b C T 10: 24,091,595 V234I probably benign Het
Tbc1d9 A G 8: 83,260,992 Y860C probably damaging Het
Tll1 A T 8: 64,074,289 S399R probably damaging Het
Tns1 T C 1: 73,919,648 probably benign Het
Trim10 T A 17: 36,877,288 probably null Het
Ttn C T 2: 76,732,351 probably null Het
Usp43 T C 11: 67,855,938 D981G probably benign Het
Vmn2r108 A T 17: 20,463,281 C554S probably damaging Het
Vmn2r112 T A 17: 22,605,155 Y464N probably damaging Het
Vmn2r31 T C 7: 7,384,848 K575E probably damaging Het
Vmn2r50 C T 7: 10,037,683 C697Y probably damaging Het
Zcchc8 A C 5: 123,720,719 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
IGL01066:Polr1b APN 2 129119152 missense probably damaging 1.00
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 On2013-12-03