Incidental Mutation 'R2201:Polr3e'
ID 238662
Institutional Source Beutler Lab
Gene Symbol Polr3e
Ensembl Gene ENSMUSG00000030880
Gene Name polymerase (RNA) III (DNA directed) polypeptide E
Synonyms RPC5, Sin
MMRRC Submission 040203-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.966) question?
Stock # R2201 (G1)
Quality Score 218
Status Validated
Chromosome 7
Chromosomal Location 120516967-120546655 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 120531465 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Histidine at position 185 (Y185H)
Ref Sequence ENSEMBL: ENSMUSP00000146970 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000033173] [ENSMUST00000106483] [ENSMUST00000207481]
AlphaFold Q9CZT4
Predicted Effect probably benign
Transcript: ENSMUST00000033173
AA Change: Y211H

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000033173
Gene: ENSMUSG00000030880
AA Change: Y211H

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 benign
Transcript: ENSMUST00000106483
AA Change: Y211H

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000102092
Gene: ENSMUSG00000030880
AA Change: Y211H

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 benign
Transcript: ENSMUST00000207481
AA Change: Y185H

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000209014
Meta Mutation Damage Score 0.0594 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.7%
  • 10x: 97.5%
  • 20x: 95.9%
Validation Efficiency 98% (59/60)
Allele List at MGI
Other mutations in this stock
Total: 61 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A2ml1 A T 6: 128,524,268 (GRCm39) N1121K probably null Het
Actr10 A G 12: 71,006,795 (GRCm39) N351D probably damaging Het
Adcy7 G A 8: 89,044,606 (GRCm39) A500T probably damaging Het
Ankrd35 T C 3: 96,586,564 (GRCm39) I80T possibly damaging Het
Arap2 G A 5: 62,864,028 (GRCm39) T532I probably damaging Het
Bag3 AAAGG AAAGGAAGG 7: 128,147,493 (GRCm39) probably null Het
Cc2d2a T C 5: 43,841,375 (GRCm39) probably benign Het
Cep85l A T 10: 53,224,827 (GRCm39) M254K probably benign Het
Clic4 A G 4: 134,950,850 (GRCm39) S114P probably damaging Het
Ctsj T C 13: 61,150,363 (GRCm39) Y213C probably damaging Het
Ddx28 A G 8: 106,737,206 (GRCm39) V284A probably damaging Het
Dnase2b T A 3: 146,290,443 (GRCm39) D176V probably damaging Het
Dsg2 T A 18: 20,729,111 (GRCm39) N663K probably damaging Het
Dst T A 1: 34,235,002 (GRCm39) S3694T possibly damaging Het
Emilin1 T C 5: 31,073,036 (GRCm39) S158P probably benign Het
Eng T C 2: 32,563,752 (GRCm39) probably benign Het
Entrep2 T A 7: 64,409,141 (GRCm39) M418L probably benign Het
Fdxr C A 11: 115,161,208 (GRCm39) V223L probably benign Het
Fhip1b T C 7: 105,037,398 (GRCm39) N395S probably damaging Het
Frem2 T A 3: 53,423,994 (GRCm39) M3148L probably benign Het
Hip1 A T 5: 135,460,584 (GRCm39) D114E probably benign Het
Itga9 T C 9: 118,706,183 (GRCm39) probably benign Het
Kcnt2 T A 1: 140,437,179 (GRCm39) N487K probably damaging Het
Krt6a A G 15: 101,601,606 (GRCm39) F172L probably benign Het
Megf8 C T 7: 25,040,170 (GRCm39) R1034W probably damaging Het
Muc6 C T 7: 141,236,075 (GRCm39) D451N probably damaging Het
Myo5a A G 9: 75,125,225 (GRCm39) T1838A possibly damaging Het
N4bp2l2 A T 5: 150,585,073 (GRCm39) D302E probably damaging Het
Nbeal2 T A 9: 110,459,318 (GRCm39) I1930F probably benign Het
Nhsl3 A G 4: 129,116,432 (GRCm39) V732A probably benign Het
Npas4 A T 19: 5,037,392 (GRCm39) Y301N probably benign Het
Nt5m A G 11: 59,766,741 (GRCm39) K211E probably benign Het
Pfn4 A G 12: 4,824,382 (GRCm39) probably null Het
Pfpl A C 19: 12,407,843 (GRCm39) D698A probably benign Het
Pias1 G T 9: 62,859,137 (GRCm39) H124N possibly damaging Het
Pja2 A T 17: 64,618,162 (GRCm39) probably benign Het
Pomc T C 12: 4,010,275 (GRCm39) L172S probably benign Het
Rapgef4 A G 2: 71,875,533 (GRCm39) T129A probably damaging Het
Reep1 T C 6: 71,750,278 (GRCm39) S97P probably damaging Het
Rttn T A 18: 89,029,067 (GRCm39) I595N possibly damaging Het
Sap30 T C 8: 57,938,506 (GRCm39) probably null Het
Slc1a7 T C 4: 107,850,203 (GRCm39) Y105H probably damaging Het
Slc5a5 C T 8: 71,345,102 (GRCm39) M68I probably damaging Het
Stab2 T A 10: 86,776,503 (GRCm39) Y791F probably benign Het
Tdrd1 C A 19: 56,847,094 (GRCm39) H912N probably benign Het
Tdrd1 C A 19: 56,847,093 (GRCm39) S911R probably benign Het
Tgm7 A T 2: 120,929,062 (GRCm39) F278Y probably damaging Het
Tln2 T C 9: 67,283,039 (GRCm39) T310A probably damaging Het
Tmem256 T C 11: 69,730,271 (GRCm39) I93T probably benign Het
Trpm2 G A 10: 77,756,305 (GRCm39) Q1172* probably null Het
Ttll8 A G 15: 88,818,156 (GRCm39) V173A possibly damaging Het
Ubr5 T C 15: 38,002,543 (GRCm39) S1497G possibly damaging Het
Ubr7 G A 12: 102,727,764 (GRCm39) probably null Het
Vmn1r37 T A 6: 66,708,878 (GRCm39) M1K probably null Het
Vmn2r14 A G 5: 109,366,698 (GRCm39) probably null Het
Vmn2r72 T C 7: 85,387,444 (GRCm39) I707V probably benign Het
Vps8 A G 16: 21,395,507 (GRCm39) R1266G probably damaging Het
Wdr87-ps T A 7: 29,235,950 (GRCm39) noncoding transcript Het
Zfhx4 A G 3: 5,307,349 (GRCm39) N192D probably damaging Het
Zfp638 G C 6: 83,906,500 (GRCm39) D222H probably damaging Het
Zscan29 A C 2: 120,999,883 (GRCm39) V106G probably damaging Het
Other mutations in Polr3e
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00334:Polr3e APN 7 120,540,034 (GRCm39) nonsense probably null
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
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
Predicted Primers PCR Primer
(F):5'- CCAGAGGCTGAATTCCAAAAGC -3'
(R):5'- GGGGCTAAACCTCTAACTGG -3'

Sequencing Primer
(F):5'- GCTGAATTCCAAAAGCAAAGTG -3'
(R):5'- TGGAACAGGAGCTCTCTGC -3'
Posted On 2014-10-02