Incidental Mutation 'IGL00334:Polr3e'
ID 5135
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Polr3e
Ensembl Gene ENSMUSG00000030880
Gene Name polymerase (RNA) III (DNA directed) polypeptide E
Synonyms RPC5, Sin
Accession Numbers
Essential gene? Probably essential (E-score: 0.967) question?
Stock # IGL00334
Quality Score
Status
Chromosome 7
Chromosomal Location 120516967-120546655 bp(+) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) C to T at 120540034 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamine to Stop codon at position 594 (Q594*)
Ref Sequence ENSEMBL: ENSMUSP00000146970 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000033173] [ENSMUST00000106483] [ENSMUST00000207481]
AlphaFold Q9CZT4
Predicted Effect probably null
Transcript: ENSMUST00000033173
AA Change: Q620*
SMART Domains Protein: ENSMUSP00000033173
Gene: ENSMUSG00000030880
AA Change: Q620*

DomainStartEndE-ValueType
Pfam:Sin_N 5 432 7.1e-161 PFAM
coiled coil region 458 491 N/A INTRINSIC
low complexity region 504 518 N/A INTRINSIC
Predicted Effect probably null
Transcript: ENSMUST00000106483
AA Change: Q620*
SMART Domains Protein: ENSMUSP00000102092
Gene: ENSMUSG00000030880
AA Change: Q620*

DomainStartEndE-ValueType
Pfam:Sin_N 4 29 2.8e-10 PFAM
Pfam:Sin_N 29 408 6.9e-141 PFAM
coiled coil region 432 465 N/A INTRINSIC
low complexity region 478 492 N/A INTRINSIC
Predicted Effect probably null
Transcript: ENSMUST00000207481
AA Change: Q594*
Predicted Effect noncoding transcript
Transcript: ENSMUST00000209014
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Arsb T G 13: 94,075,787 (GRCm39) H423Q probably benign Het
Bltp2 T A 11: 78,160,400 (GRCm39) L620I possibly damaging Het
Ces1f T C 8: 93,994,620 (GRCm39) T264A probably benign Het
Clcn6 C A 4: 148,102,359 (GRCm39) probably null Het
Cyb5r3 C A 15: 83,044,605 (GRCm39) A138S probably benign Het
Cyp3a57 A T 5: 145,307,834 (GRCm39) N197Y probably damaging Het
Dctn2 A G 10: 127,113,559 (GRCm39) probably benign Het
Dnmt1 C T 9: 20,821,566 (GRCm39) A1197T possibly damaging Het
Dock2 T C 11: 34,595,488 (GRCm39) D436G probably damaging Het
Drd4 A G 7: 140,872,096 (GRCm39) N49S probably damaging Het
Dst T A 1: 34,205,373 (GRCm39) V521D probably damaging Het
Eif5b T C 1: 38,080,800 (GRCm39) S714P probably damaging Het
Glis3 A G 19: 28,517,664 (GRCm39) I178T probably damaging Het
Gm11565 T A 11: 99,806,021 (GRCm39) C138S possibly damaging Het
H1f8 T A 6: 115,924,588 (GRCm39) probably benign Het
Hdx T A X: 110,492,578 (GRCm39) I623F probably benign Het
Huwe1 T G X: 150,668,623 (GRCm39) L843V probably damaging Het
Hyal2 T C 9: 107,447,604 (GRCm39) Y86H probably damaging Het
Irf7 A T 7: 140,844,553 (GRCm39) S157T probably benign Het
Jmjd4 T A 11: 59,346,140 (GRCm39) M331K probably damaging Het
Kdm2a A T 19: 4,406,926 (GRCm39) D112E possibly damaging Het
Mamdc2 A C 19: 23,356,138 (GRCm39) Y103* probably null Het
Map2k3 T C 11: 60,834,041 (GRCm39) V77A possibly damaging Het
Mideas G A 12: 84,219,629 (GRCm39) R442* probably null Het
Mprip T A 11: 59,639,417 (GRCm39) D403E probably benign Het
Mutyh T A 4: 116,676,516 (GRCm39) V496D possibly damaging Het
Nbeal1 T C 1: 60,321,042 (GRCm39) V2051A probably damaging Het
Nbeal1 T C 1: 60,367,262 (GRCm39) L2575P probably damaging Het
Or10j5 T G 1: 172,785,158 (GRCm39) S265R possibly damaging Het
Or51a6 T C 7: 102,604,311 (GRCm39) K173E probably benign Het
Pcdhb6 T A 18: 37,467,277 (GRCm39) I66N probably damaging Het
Pck2 T C 14: 55,780,098 (GRCm39) Y89H probably benign Het
Poglut3 T A 9: 53,309,330 (GRCm39) probably benign Het
Poglut3 C A 9: 53,309,328 (GRCm39) probably benign Het
Ptpro T G 6: 137,371,907 (GRCm39) probably null Het
Rfx4 A G 10: 84,615,917 (GRCm39) K28E possibly damaging Het
Shox2 T C 3: 66,888,774 (GRCm39) E39G possibly damaging Het
Slc22a16 A T 10: 40,449,930 (GRCm39) D122V probably benign Het
Smr3a A C 5: 88,155,919 (GRCm39) probably benign Het
Spmip8 G A 8: 96,039,676 (GRCm39) R31H probably damaging Het
Taf4 G T 2: 179,618,418 (GRCm39) L8M unknown Het
Tbkbp1 T A 11: 97,028,474 (GRCm39) probably benign Het
Tmem120b G T 5: 123,253,230 (GRCm39) E210D probably damaging Het
Tmem120b A T 5: 123,253,229 (GRCm39) probably null Het
Trim21 C T 7: 102,208,805 (GRCm39) V305M probably damaging Het
Ube4a A T 9: 44,859,439 (GRCm39) L353Q probably damaging Het
Zfyve1 A T 12: 83,621,572 (GRCm39) N274K probably benign Het
Other mutations in Polr3e
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01664:Polr3e APN 7 120,530,540 (GRCm39) splice site probably benign
IGL01980:Polr3e APN 7 120,539,519 (GRCm39) splice site probably benign
IGL02027:Polr3e APN 7 120,530,186 (GRCm39) missense probably damaging 1.00
IGL02208:Polr3e APN 7 120,531,363 (GRCm39) missense probably damaging 0.99
IGL02549:Polr3e APN 7 120,538,982 (GRCm39) missense probably damaging 1.00
IGL03338:Polr3e APN 7 120,536,843 (GRCm39) missense probably benign 0.06
R1192:Polr3e UTSW 7 120,532,531 (GRCm39) missense probably benign 0.03
R1328:Polr3e UTSW 7 120,533,046 (GRCm39) splice site probably benign
R1435:Polr3e UTSW 7 120,540,011 (GRCm39) missense probably benign 0.16
R1528:Polr3e UTSW 7 120,539,820 (GRCm39) missense probably damaging 1.00
R1754:Polr3e UTSW 7 120,538,521 (GRCm39) critical splice donor site probably null
R1924:Polr3e UTSW 7 120,539,820 (GRCm39) missense probably damaging 1.00
R2169:Polr3e UTSW 7 120,531,360 (GRCm39) missense probably damaging 1.00
R2201:Polr3e UTSW 7 120,531,465 (GRCm39) missense probably benign
R2362:Polr3e UTSW 7 120,541,787 (GRCm39) missense probably damaging 1.00
R2696:Polr3e UTSW 7 120,532,600 (GRCm39) missense probably damaging 1.00
R4416:Polr3e UTSW 7 120,538,280 (GRCm39) critical splice donor site probably null
R5278:Polr3e UTSW 7 120,522,184 (GRCm39) missense possibly damaging 0.67
R5560:Polr3e UTSW 7 120,522,172 (GRCm39) missense possibly damaging 0.83
R5689:Polr3e UTSW 7 120,539,912 (GRCm39) missense possibly damaging 0.82
R5790:Polr3e UTSW 7 120,527,190 (GRCm39) missense probably damaging 1.00
R6242:Polr3e UTSW 7 120,539,690 (GRCm39) missense possibly damaging 0.62
R6317:Polr3e UTSW 7 120,527,205 (GRCm39) missense possibly damaging 0.49
R6334:Polr3e UTSW 7 120,527,222 (GRCm39) missense possibly damaging 0.87
R6891:Polr3e UTSW 7 120,543,873 (GRCm39) missense probably damaging 0.98
R7110:Polr3e UTSW 7 120,539,510 (GRCm39) splice site probably null
R7771:Polr3e UTSW 7 120,539,801 (GRCm39) missense probably benign
R7809:Polr3e UTSW 7 120,523,449 (GRCm39) missense probably damaging 1.00
R8431:Polr3e UTSW 7 120,530,528 (GRCm39) missense probably damaging 0.99
R8753:Polr3e UTSW 7 120,539,540 (GRCm39) missense possibly damaging 0.55
R9038:Polr3e UTSW 7 120,536,906 (GRCm39) missense possibly damaging 0.91
R9049:Polr3e UTSW 7 120,538,462 (GRCm39) missense probably benign
Posted On 2012-04-20