Incidental Mutation 'IGL02208:Polr3e'
ID284580
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Polr3e
Ensembl Gene ENSMUSG00000030880
Gene Namepolymerase (RNA) III (DNA directed) polypeptide E
SynonymsSin, RPC5
Accession Numbers
Is this an essential gene? Probably essential (E-score: 0.923) question?
Stock #IGL02208
Quality Score
Status
Chromosome7
Chromosomal Location120917744-120947432 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 120932140 bp
ZygosityHeterozygous
Amino Acid Change Phenylalanine to Isoleucine at position 151 (F151I)
Ref Sequence ENSEMBL: ENSMUSP00000146970 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000033173] [ENSMUST00000106483] [ENSMUST00000207481]
Predicted Effect probably damaging
Transcript: ENSMUST00000033173
AA Change: F177I

PolyPhen 2 Score 0.978 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000033173
Gene: ENSMUSG00000030880
AA Change: F177I

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: F177I

PolyPhen 2 Score 0.978 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000102092
Gene: ENSMUSG00000030880
AA Change: F177I

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: F151I

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000209014
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca8a A G 11: 110,059,946 Y898H probably damaging Het
Abr T C 11: 76,455,645 T484A probably damaging Het
Ahsg G A 16: 22,892,310 V66I possibly damaging Het
Arhgef5 T G 6: 43,275,130 D938E probably benign Het
Asap1 T A 15: 64,122,033 E731V probably damaging Het
Cdca2 C T 14: 67,713,140 R114Q probably damaging Het
Dock5 A G 14: 67,828,450 I368T probably benign Het
Dse T A 10: 34,152,437 M886L probably benign Het
Efcab11 A G 12: 99,854,602 probably benign Het
Eri2 G A 7: 119,785,935 P448S probably benign Het
Gm9999 T C 7: 46,983,824 probably benign Het
Iffo1 A G 6: 125,145,366 D37G possibly damaging Het
Lrrc39 A T 3: 116,578,274 Q230L probably damaging Het
Macrod2 C A 2: 142,374,276 S443Y possibly damaging Het
Map4 T A 9: 109,978,870 M1K probably null Het
Myh4 G A 11: 67,251,934 A974T possibly damaging Het
Npm3 T C 19: 45,748,860 T72A probably benign Het
Olfr125 T C 17: 37,835,524 F175S probably damaging Het
P3h4 T C 11: 100,414,075 N162S probably damaging Het
Pcnx2 G T 8: 125,752,155 T2118N probably benign Het
Pla2r1 G T 2: 60,428,588 P1152Q possibly damaging Het
Pole2 C T 12: 69,223,162 E63K possibly damaging Het
Prdm2 T C 4: 143,135,743 T326A probably benign Het
Prdm8 G T 5: 98,183,465 A59S possibly damaging Het
Reps1 A G 10: 18,119,022 N538S probably damaging Het
Scube1 T C 15: 83,703,540 D76G probably damaging Het
Senp6 T C 9: 80,113,943 F302L probably damaging Het
Skiv2l A T 17: 34,841,675 I822N probably damaging Het
Slc17a7 T C 7: 45,170,943 I299T probably damaging Het
Slc25a26 T A 6: 94,507,539 V20E probably damaging Het
Spem2 T C 11: 69,817,263 probably null Het
Stat5b A C 11: 100,804,913 F81C probably damaging Het
Taf6 A T 5: 138,180,907 V423E probably damaging Het
Tcaf2 T A 6: 42,629,086 Y551F probably damaging Het
Tgm6 A T 2: 130,135,870 D43V probably benign Het
Tubb3 G T 8: 123,420,864 V179L probably damaging Het
Ubr1 G A 2: 120,946,349 H304Y probably benign Het
Vmn2r56 T G 7: 12,715,481 M277L probably benign Het
Wdr72 G A 9: 74,157,299 V538M probably damaging Het
Other mutations in Polr3e
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00334:Polr3e APN 7 120940811 nonsense probably null
IGL01664:Polr3e APN 7 120931317 splice site probably benign
IGL01980:Polr3e APN 7 120940296 splice site probably benign
IGL02027:Polr3e APN 7 120930963 missense probably damaging 1.00
IGL02549:Polr3e APN 7 120939759 missense probably damaging 1.00
IGL03338:Polr3e APN 7 120937620 missense probably benign 0.06
R1192:Polr3e UTSW 7 120933308 missense probably benign 0.03
R1328:Polr3e UTSW 7 120933823 splice site probably benign
R1435:Polr3e UTSW 7 120940788 missense probably benign 0.16
R1528:Polr3e UTSW 7 120940597 missense probably damaging 1.00
R1754:Polr3e UTSW 7 120939298 critical splice donor site probably null
R1924:Polr3e UTSW 7 120940597 missense probably damaging 1.00
R2169:Polr3e UTSW 7 120932137 missense probably damaging 1.00
R2201:Polr3e UTSW 7 120932242 missense probably benign
R2362:Polr3e UTSW 7 120942564 missense probably damaging 1.00
R2696:Polr3e UTSW 7 120933377 missense probably damaging 1.00
R4416:Polr3e UTSW 7 120939057 critical splice donor site probably null
R5278:Polr3e UTSW 7 120922961 missense possibly damaging 0.67
R5560:Polr3e UTSW 7 120922949 missense possibly damaging 0.83
R5689:Polr3e UTSW 7 120940689 missense possibly damaging 0.82
R5790:Polr3e UTSW 7 120927967 missense probably damaging 1.00
R6242:Polr3e UTSW 7 120940467 missense possibly damaging 0.62
R6317:Polr3e UTSW 7 120927982 missense possibly damaging 0.49
R6334:Polr3e UTSW 7 120927999 missense possibly damaging 0.87
R6891:Polr3e UTSW 7 120944650 missense probably damaging 0.98
Posted On2015-04-16