Incidental Mutation 'R2696:Polr3e'
ID 251067
Institutional Source Beutler Lab
Gene Symbol Polr3e
Ensembl Gene ENSMUSG00000030880
Gene Name polymerase (RNA) III (DNA directed) polypeptide E
Synonyms RPC5, Sin
MMRRC Submission 040434-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.967) question?
Stock # R2696 (G1)
Quality Score 225
Status Not validated
Chromosome 7
Chromosomal Location 120516967-120546655 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 120532600 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Proline at position 212 (L212P)
Ref Sequence ENSEMBL: ENSMUSP00000146970 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000033173] [ENSMUST00000106483] [ENSMUST00000207481]
AlphaFold Q9CZT4
Predicted Effect probably damaging
Transcript: ENSMUST00000033173
AA Change: L238P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000033173
Gene: ENSMUSG00000030880
AA Change: L238P

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 damaging
Transcript: ENSMUST00000106483
AA Change: L238P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000102092
Gene: ENSMUSG00000030880
AA Change: L238P

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 damaging
Transcript: ENSMUST00000207481
AA Change: L212P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000209014
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 95.0%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930562C15Rik A T 16: 4,668,228 (GRCm39) T540S probably benign Het
Acp7 G T 7: 28,314,001 (GRCm39) H369Q probably benign Het
Adgrg3 A G 8: 95,747,702 (GRCm39) N65S probably benign Het
Anln A G 9: 22,272,259 (GRCm39) V620A probably benign Het
Atp10a T A 7: 58,463,366 (GRCm39) S966R probably benign Het
Atp8b3 T A 10: 80,370,017 (GRCm39) Q132L possibly damaging Het
Col4a1 T A 8: 11,285,092 (GRCm39) probably null Het
Ddx21 T C 10: 62,429,871 (GRCm39) H291R possibly damaging Het
Dlgap3 A G 4: 127,088,416 (GRCm39) Y4C probably damaging Het
Dnah5 A G 15: 28,278,722 (GRCm39) N1106D probably benign Het
Esyt1 T C 10: 128,352,914 (GRCm39) D662G probably damaging Het
F830016B08Rik T A 18: 60,433,808 (GRCm39) V297E possibly damaging Het
Faf1 T A 4: 109,698,525 (GRCm39) N328K possibly damaging Het
Gdf3 A C 6: 122,583,859 (GRCm39) F169L probably benign Het
Ifi213 G A 1: 173,417,590 (GRCm39) T274I probably benign Het
Igf2r T C 17: 12,914,231 (GRCm39) D1746G possibly damaging Het
Ighv1-75 T C 12: 115,797,826 (GRCm39) K32R probably benign Het
Ipo8 T A 6: 148,698,239 (GRCm39) Q594L probably benign Het
Krt87 A T 15: 101,384,890 (GRCm39) I402N probably benign Het
Med18 G A 4: 132,187,281 (GRCm39) R118W probably damaging Het
Mmrn2 A G 14: 34,120,372 (GRCm39) E414G probably damaging Het
Myo6 A G 9: 80,168,176 (GRCm39) T447A probably benign Het
Ncoa6 T C 2: 155,279,935 (GRCm39) E27G probably benign Het
Ngly1 T C 14: 16,283,439 (GRCm38) L406S possibly damaging Het
Or14j1 T C 17: 38,145,998 (GRCm39) I36T probably benign Het
Or51l4 A G 7: 103,404,735 (GRCm39) I19T probably damaging Het
Phldb1 T C 9: 44,629,585 (GRCm39) Y156C probably damaging Het
Pkd2l1 T A 19: 44,145,708 (GRCm39) T172S probably benign Het
Pknox2 G A 9: 36,820,987 (GRCm39) R292* probably null Het
Plod3 G C 5: 137,017,000 (GRCm39) A50P probably benign Het
Ppp4r4 A G 12: 103,547,653 (GRCm39) I215M possibly damaging Het
Psmg2 T C 18: 67,781,288 (GRCm39) Y127H possibly damaging Het
Ptch1 T G 13: 63,672,773 (GRCm39) E944A probably benign Het
Ptp4a1 A T 1: 30,985,213 (GRCm39) M4K probably benign Het
R3hcc1l A T 19: 42,552,427 (GRCm39) I475L possibly damaging Het
Rbp3 C T 14: 33,677,975 (GRCm39) T641M probably damaging Het
Rsf1 GGC GGCGGCGGCGGC 7: 97,229,140 (GRCm39) probably benign Het
Sec63 T A 10: 42,659,522 (GRCm39) I70N probably benign Het
Slc2a5 A C 4: 150,205,203 (GRCm39) K4T probably benign Het
Slc4a3 A G 1: 75,532,119 (GRCm39) Y939C possibly damaging Het
Slc7a15 T C 12: 8,579,345 (GRCm39) *229W probably null Het
Slco1a6 C A 6: 142,058,662 (GRCm39) G206C probably damaging Het
Spata9 A G 13: 76,125,895 (GRCm39) Q126R probably benign Het
Speg A T 1: 75,383,570 (GRCm39) D1186V probably benign Het
Spink5 T G 18: 44,115,359 (GRCm39) M197R probably damaging Het
Stab2 T C 10: 86,697,363 (GRCm39) D1975G probably benign Het
Syngap1 T A 17: 27,176,385 (GRCm39) C224* probably null Het
Ttn T C 2: 76,698,807 (GRCm39) probably benign Het
Txnrd1 G A 10: 82,721,116 (GRCm39) E397K probably benign Het
Ugt2b36 A T 5: 87,237,344 (GRCm39) M313K probably damaging Het
Ulk3 A G 9: 57,497,724 (GRCm39) I74V possibly damaging Het
Zcchc4 T C 5: 52,953,573 (GRCm39) V194A probably damaging Het
Zfp27 C T 7: 29,595,792 (GRCm39) A58T possibly damaging Het
Zfp398 T G 6: 47,843,879 (GRCm39) *512E probably null 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
R2201:Polr3e UTSW 7 120,531,465 (GRCm39) missense probably benign
R2362:Polr3e UTSW 7 120,541,787 (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'- CCACATTGCAGAGGATTTGTGG -3'
(R):5'- GGTGTAAGCAAATACCCATCCC -3'

Sequencing Primer
(F):5'- GGTGTTGTGCTCAGGAGGC -3'
(R):5'- TAGTCCTAGTAGCTCCTGGACAAG -3'
Posted On 2014-12-04