Incidental Mutation 'IGL01364:Polr3b'
ID 75871
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Polr3b
Ensembl Gene ENSMUSG00000034453
Gene Name polymerase (RNA) III (DNA directed) polypeptide B
Synonyms RPC2, A330032P03Rik, 2700078H01Rik
Accession Numbers

Genbank: NM_027423

Is this an essential gene? Essential (E-score: 1.000) question?
Stock # IGL01364
Quality Score
Status
Chromosome 10
Chromosomal Location 84622292-84727178 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) T to A at 84695669 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Asparagine at position 803 (I803N)
Ref Sequence ENSEMBL: ENSMUSP00000076418 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000077175]
AlphaFold P59470
Predicted Effect probably benign
Transcript: ENSMUST00000077175
AA Change: I803N

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000076418
Gene: ENSMUSG00000034453
AA Change: I803N

DomainStartEndE-ValueType
Pfam:RNA_pol_Rpb2_1 38 413 2e-55 PFAM
Pfam:RNA_pol_Rpb2_2 185 363 8.4e-29 PFAM
Pfam:RNA_pol_Rpb2_3 438 502 2.6e-22 PFAM
Pfam:RNA_pol_Rpb2_4 539 600 1e-29 PFAM
Pfam:RNA_pol_Rpb2_5 621 661 6.5e-14 PFAM
Pfam:RNA_pol_Rpb2_6 668 1041 5.8e-129 PFAM
Pfam:RNA_pol_Rpb2_7 1043 1129 7.6e-36 PFAM
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 the second largest subunit of RNA polymerase III, the polymerase responsible for synthesizing transfer and small ribosomal RNAs in eukaryotes. The largest subunit and the encoded protein form the catalytic center of RNA polymerase III. Mutations in this gene are a cause of hypomyelinating leukodystrophy. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Dec 2011]
Allele List at MGI

All alleles(48) : Targeted, other(2) Gene trapped(46)

Other mutations in this stock
Total: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
6430573F11Rik A G 8: 36,512,347 K368R probably benign Het
Aco1 C A 4: 40,181,380 probably null Het
Acot6 T C 12: 84,101,066 V32A possibly damaging Het
Aff3 A T 1: 38,535,681 L73I probably damaging Het
Aldh1l2 C A 10: 83,492,667 D729Y probably damaging Het
Alox15 T C 11: 70,345,166 Q525R possibly damaging Het
Atr T C 9: 95,865,624 Y320H probably benign Het
Atxn3 C T 12: 101,934,423 probably benign Het
Caprin2 C A 6: 148,873,028 S262I probably benign Het
Ccar1 T C 10: 62,776,874 probably null Het
Ccdc14 T A 16: 34,723,213 L647H probably damaging Het
Cd300lf T C 11: 115,126,350 D49G probably benign Het
Csmd2 A G 4: 128,414,288 T1280A probably benign Het
Ddb1 T C 19: 10,627,660 probably null Het
Dnah9 A G 11: 66,155,459 Y88H probably damaging Het
Enpp1 T C 10: 24,664,614 T351A probably damaging Het
Evi2b T A 11: 79,516,623 Y42F probably benign Het
Fdps A T 3: 89,094,270 C274* probably null Het
Flnb A C 14: 7,934,562 probably null Het
Herc1 T A 9: 66,399,361 V917E probably benign Het
Hmcn2 C T 2: 31,361,814 Q854* probably null Het
Hmgxb3 T C 18: 61,146,434 Y769C probably damaging Het
Hps3 G T 3: 20,003,305 Q772K possibly damaging Het
Ifnab T C 4: 88,690,750 S160G probably damaging Het
Kalrn T C 16: 34,262,629 E652G probably damaging Het
Kat6a T C 8: 22,907,700 L255S probably damaging Het
Kbtbd7 T A 14: 79,428,046 D439E possibly damaging Het
Kcnn4 T C 7: 24,381,703 F289L probably benign Het
Mapk6 A C 9: 75,388,790 D475E possibly damaging Het
Msh5 A G 17: 35,028,769 V825A possibly damaging Het
Mst1 A G 9: 108,081,601 I111V probably benign Het
Myo1h T A 5: 114,348,439 I586N probably damaging Het
Olfr1280 G T 2: 111,315,670 A64S probably damaging Het
Panx1 C T 9: 15,021,465 V80M probably damaging Het
Rasa4 T C 5: 136,095,571 V158A possibly damaging Het
Rbp3 T A 14: 33,954,188 M31K possibly damaging Het
Rpl3l A G 17: 24,732,430 K154E probably benign Het
Sec24a A T 11: 51,713,529 probably null Het
Sox5 C T 6: 144,116,472 M151I probably damaging Het
Sun1 T A 5: 139,234,741 L290Q probably damaging Het
Tm9sf2 T A 14: 122,143,460 I155N probably damaging Het
Tuft1 A G 3: 94,635,503 probably benign Het
Ubash3b A G 9: 41,018,015 probably null Het
Vwa1 A G 4: 155,770,743 probably null Het
Wnk1 T C 6: 119,937,411 E80G probably damaging Het
Xpot C A 10: 121,604,494 A611S probably benign Het
Other mutations in Polr3b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00787:Polr3b APN 10 84676990 missense probably benign
IGL00848:Polr3b APN 10 84680377 missense probably damaging 1.00
IGL00901:Polr3b APN 10 84631796 missense possibly damaging 0.94
IGL01313:Polr3b APN 10 84725743 missense probably damaging 1.00
IGL01731:Polr3b APN 10 84631840 nonsense probably null
IGL03326:Polr3b APN 10 84667395 missense probably benign 0.43
IGL03369:Polr3b APN 10 84676952 missense probably damaging 1.00
etruscan UTSW 10 84632538 missense probably benign 0.00
pennyweight UTSW 10 84713632 missense probably damaging 1.00
pinhead UTSW 10 84655991 missense probably damaging 1.00
G5538:Polr3b UTSW 10 84631794 missense probably benign 0.21
PIT4382001:Polr3b UTSW 10 84684185 missense probably damaging 1.00
R0180:Polr3b UTSW 10 84622515 missense probably benign
R0270:Polr3b UTSW 10 84718475 missense probably benign 0.02
R0541:Polr3b UTSW 10 84638064 missense probably damaging 1.00
R0890:Polr3b UTSW 10 84714336 missense probably benign 0.01
R1302:Polr3b UTSW 10 84632486 missense probably damaging 0.97
R1511:Polr3b UTSW 10 84680385 missense probably benign
R1561:Polr3b UTSW 10 84634912 missense probably damaging 1.00
R1607:Polr3b UTSW 10 84652783 missense probably benign 0.00
R1624:Polr3b UTSW 10 84679805 missense probably damaging 0.98
R1809:Polr3b UTSW 10 84693001 missense probably damaging 1.00
R1830:Polr3b UTSW 10 84692922 nonsense probably null
R2973:Polr3b UTSW 10 84628280 missense probably benign 0.00
R3401:Polr3b UTSW 10 84699491 missense probably damaging 0.96
R3876:Polr3b UTSW 10 84720518 critical splice donor site probably null
R3961:Polr3b UTSW 10 84684302 missense possibly damaging 0.89
R4664:Polr3b UTSW 10 84714369 missense probably damaging 1.00
R4721:Polr3b UTSW 10 84656003 missense possibly damaging 0.56
R4972:Polr3b UTSW 10 84638124 missense probably damaging 1.00
R5065:Polr3b UTSW 10 84632538 missense probably benign 0.00
R5264:Polr3b UTSW 10 84667416 missense probably benign 0.02
R5302:Polr3b UTSW 10 84699400 missense possibly damaging 0.59
R5795:Polr3b UTSW 10 84628252 missense probably benign
R5795:Polr3b UTSW 10 84677011 missense probably damaging 0.97
R5838:Polr3b UTSW 10 84674590 missense probably benign 0.09
R6419:Polr3b UTSW 10 84638111 missense possibly damaging 0.78
R6568:Polr3b UTSW 10 84634903 missense probably damaging 1.00
R6787:Polr3b UTSW 10 84628625 critical splice acceptor site probably null
R6913:Polr3b UTSW 10 84713632 missense probably damaging 1.00
R7405:Polr3b UTSW 10 84684179 missense probably benign
R7456:Polr3b UTSW 10 84622491 missense probably benign
R7657:Polr3b UTSW 10 84655991 missense probably damaging 1.00
R8074:Polr3b UTSW 10 84713659 missense probably damaging 1.00
R8082:Polr3b UTSW 10 84656063 missense probably damaging 1.00
R8127:Polr3b UTSW 10 84679789 missense probably benign
R8676:Polr3b UTSW 10 84680387 missense probably benign 0.00
R8744:Polr3b UTSW 10 84628624 splice site probably benign
R8797:Polr3b UTSW 10 84697015 nonsense probably null
R8866:Polr3b UTSW 10 84695691 missense probably benign 0.14
R9006:Polr3b UTSW 10 84631833 missense probably benign 0.05
R9397:Polr3b UTSW 10 84631789 missense possibly damaging 0.93
X0066:Polr3b UTSW 10 84713695 missense probably damaging 0.97
Z1177:Polr3b UTSW 10 84714293 missense probably damaging 1.00
Posted On 2013-10-07