Incidental Mutation 'IGL02027:Polr3e'
ID 184221
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Polr3e
Ensembl Gene ENSMUSG00000030880
Gene Name polymerase (RNA) III (DNA directed) polypeptide E
Synonyms Sin, RPC5
Accession Numbers
Is this an essential gene? Probably essential (E-score: 0.967) question?
Stock # IGL02027
Quality Score
Status
Chromosome 7
Chromosomal Location 120917744-120947432 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) G to T at 120930963 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Arginine to Leucine at position 124 (R124L)
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: R150L

PolyPhen 2 Score 0.435 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000033173
Gene: ENSMUSG00000030880
AA Change: R150L

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: R150L

PolyPhen 2 Score 0.435 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000102092
Gene: ENSMUSG00000030880
AA Change: R150L

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: R124L

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000209014
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adipor1 A G 1: 134,431,185 T312A probably benign Het
Begain T G 12: 109,034,309 K384Q possibly damaging Het
C2cd6 T C 1: 59,060,604 I393V probably benign Het
Catsperz A G 19: 6,925,296 V5A probably benign Het
Cbx1 T A 11: 96,801,489 F67L probably damaging Het
Cerkl T C 2: 79,341,286 probably benign Het
Ctgf A G 10: 24,596,409 S117G probably damaging Het
Cubn G T 2: 13,287,594 D3259E probably damaging Het
Cyp2u1 A G 3: 131,297,951 Y307H probably damaging Het
Dcaf6 A C 1: 165,424,341 D71E probably damaging Het
Dclk3 A T 9: 111,467,843 K152* probably null Het
Fcgbp G A 7: 28,075,204 D68N probably damaging Het
Gm6576 A G 15: 27,025,866 noncoding transcript Het
Has2 T C 15: 56,668,171 T383A probably damaging Het
Htr1f T A 16: 64,926,321 K203* probably null Het
Il1f9 A T 2: 24,192,785 I191L probably benign Het
Iqgap3 T C 3: 88,087,342 I116T possibly damaging Het
Itga1 C T 13: 114,990,055 probably null Het
Kif5b T C 18: 6,209,089 D891G possibly damaging Het
Krt74 T C 15: 101,756,794 noncoding transcript Het
Lama3 A G 18: 12,516,513 K1776E probably damaging Het
Lats1 T C 10: 7,712,948 S1110P probably benign Het
Lipo3 T A 19: 33,580,519 K158* probably null Het
Lrrc9 T A 12: 72,470,334 probably benign Het
Met A G 6: 17,563,727 probably benign Het
Mmp13 A G 9: 7,272,955 Y105C probably damaging Het
Mtus1 T C 8: 40,993,601 E1151G probably damaging Het
Nov T C 15: 54,747,934 V155A probably damaging Het
Nptx1 T C 11: 119,544,596 D298G possibly damaging Het
Pdlim1 T C 19: 40,243,466 N156S probably benign Het
Pdzk1 A G 3: 96,854,673 probably benign Het
Pex5 A G 6: 124,398,888 S448P probably benign Het
Ppp2r2c C T 5: 36,952,472 R392C probably damaging Het
Prpf4b T C 13: 34,889,571 I543T probably benign Het
Prr27 A G 5: 87,843,443 S305G possibly damaging Het
Repin1 A G 6: 48,596,473 H56R probably damaging Het
Ryr2 A T 13: 11,597,112 L408H probably damaging Het
Sbf2 T A 7: 110,461,141 Q205H probably damaging Het
Sgo2b G A 8: 63,926,829 P990S probably benign Het
Slc33a1 G T 3: 63,948,141 P361Q probably damaging Het
Tmem98 T C 11: 80,815,657 probably benign Het
Ttc25 C T 11: 100,569,902 T495M probably damaging Het
Vmn1r16 T C 6: 57,323,059 T193A possibly damaging Het
Vmn1r5 T A 6: 56,985,655 I105K probably damaging Het
Zfp473 A T 7: 44,738,038 probably benign 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
IGL02208:Polr3e APN 7 120932140 missense probably damaging 0.99
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
R7110:Polr3e UTSW 7 120940287 splice site probably null
R7771:Polr3e UTSW 7 120940578 missense probably benign
R7809:Polr3e UTSW 7 120924226 missense probably damaging 1.00
R8431:Polr3e UTSW 7 120931305 missense probably damaging 0.99
R8753:Polr3e UTSW 7 120940317 missense possibly damaging 0.55
R9038:Polr3e UTSW 7 120937683 missense possibly damaging 0.91
R9049:Polr3e UTSW 7 120939239 missense probably benign
Posted On 2014-05-07