Incidental Mutation 'IGL00973:Polr1e'
ID27340
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Polr1e
Ensembl Gene ENSMUSG00000028318
Gene Namepolymerase (RNA) I polypeptide E
Synonyms53kDa, D030019D19Rik, Paf53, Praf1
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL00973
Quality Score
Status
Chromosome4
Chromosomal Location45018583-45036565 bp(+) (GRCm38)
Type of Mutationunclassified
DNA Base Change (assembly) C to A at 45031364 bp
ZygosityHeterozygous
Amino Acid Change
Gene Model predicted gene model for transcript(s): [ENSMUST00000029999] [ENSMUST00000052236] [ENSMUST00000107814] [ENSMUST00000133157]
Predicted Effect probably benign
Transcript: ENSMUST00000029999
SMART Domains Protein: ENSMUSP00000029999
Gene: ENSMUSG00000028318

DomainStartEndE-ValueType
Pfam:RNA_pol_I_A49 51 476 2.1e-98 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000052236
SMART Domains Protein: ENSMUSP00000058233
Gene: ENSMUSG00000048232

DomainStartEndE-ValueType
FBOX 6 48 1.92e-6 SMART
PbH1 198 217 8.34e3 SMART
PbH1 238 260 1.37e3 SMART
CASH 337 511 7.29e-6 SMART
PbH1 423 444 1.41e2 SMART
PbH1 467 489 1.33e3 SMART
PbH1 490 512 1.32e2 SMART
PbH1 513 535 8.34e3 SMART
PbH1 536 558 2.87e1 SMART
CASH 536 672 5.49e1 SMART
PbH1 559 581 1.25e1 SMART
PbH1 582 604 2.64e2 SMART
PbH1 605 627 6.05e3 SMART
PbH1 628 650 2.46e2 SMART
PbH1 651 673 2.14e2 SMART
CASH 681 804 6.58e1 SMART
PbH1 713 735 6.52e2 SMART
PbH1 736 758 5.92e2 SMART
PbH1 760 782 1.13e3 SMART
PbH1 783 805 1.86e2 SMART
PbH1 828 850 9.32e1 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000054723
SMART Domains Protein: ENSMUSP00000059941
Gene: ENSMUSG00000028318

DomainStartEndE-ValueType
Pfam:RNA_pol_I_A49 24 401 7.9e-104 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000107814
SMART Domains Protein: ENSMUSP00000103444
Gene: ENSMUSG00000028318

DomainStartEndE-ValueType
Pfam:RNA_pol_I_A49 49 385 4.1e-105 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000133157
SMART Domains Protein: ENSMUSP00000121007
Gene: ENSMUSG00000028318

DomainStartEndE-ValueType
Pfam:RNA_pol_I_A49 49 431 1.4e-117 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000140008
SMART Domains Protein: ENSMUSP00000119862
Gene: ENSMUSG00000048232

DomainStartEndE-ValueType
PbH1 25 44 8.34e3 SMART
PbH1 65 87 1.37e3 SMART
CASH 164 338 7.29e-6 SMART
PbH1 250 271 1.41e2 SMART
PbH1 294 316 1.33e3 SMART
PbH1 317 339 1.32e2 SMART
PbH1 340 362 8.34e3 SMART
PbH1 363 385 2.87e1 SMART
CASH 363 499 5.49e1 SMART
PbH1 386 408 1.25e1 SMART
PbH1 409 431 2.64e2 SMART
PbH1 432 454 6.05e3 SMART
PbH1 455 477 2.46e2 SMART
PbH1 478 500 2.14e2 SMART
CASH 508 631 6.58e1 SMART
PbH1 540 562 6.52e2 SMART
PbH1 563 585 5.92e2 SMART
PbH1 587 609 1.13e3 SMART
PbH1 610 632 1.86e2 SMART
PbH1 655 677 9.32e1 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000149284
Predicted Effect noncoding transcript
Transcript: ENSMUST00000150663
Predicted Effect noncoding transcript
Transcript: ENSMUST00000153252
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 31 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Atp10a G T 7: 58,807,470 D906Y probably damaging Het
Cdh18 A G 15: 23,173,796 K32R probably damaging Het
Chtf18 G A 17: 25,722,116 A636V probably benign Het
Clcn6 A G 4: 148,013,788 probably benign Het
Dspp A C 5: 104,176,892 K374Q possibly damaging Het
Dusp27 T C 1: 166,099,458 S862G probably benign Het
Ehmt2 C T 17: 34,910,815 R962C probably damaging Het
Frrs1l T C 4: 56,972,369 K111E probably damaging Het
Galnt5 A G 2: 57,998,939 T184A probably benign Het
Glud1 C T 14: 34,319,942 T169I probably damaging Het
Hinfp T G 9: 44,298,139 D283A probably benign Het
Hmcn2 C T 2: 31,383,821 probably benign Het
Hs6st3 A T 14: 119,869,407 Y409F possibly damaging Het
Ighv15-2 A T 12: 114,564,870 V20D possibly damaging Het
Kif17 A G 4: 138,275,057 T91A probably benign Het
Mical3 T C 6: 120,934,924 probably benign Het
Myo1e C T 9: 70,338,787 T420M probably damaging Het
Olfr876 C A 9: 37,804,782 S290R probably damaging Het
Ovgp1 T A 3: 105,981,277 Y316* probably null Het
Plekha1 T A 7: 130,911,013 V313D probably damaging Het
Prdm15 A T 16: 97,806,167 probably benign Het
Ptpn4 T A 1: 119,741,371 M250L probably benign Het
Rtn1 A T 12: 72,408,511 L14Q probably benign Het
Sec24a T C 11: 51,729,577 probably null Het
Sox7 A G 14: 63,948,187 H224R probably benign Het
Sucla2 T C 14: 73,590,907 I318T possibly damaging Het
Tubb4b-ps1 A G 5: 7,179,408 probably benign Het
Ube2o T A 11: 116,541,205 K940M probably damaging Het
Usp20 A C 2: 31,004,950 N149T probably damaging Het
Utp6 C T 11: 79,955,705 W150* probably null Het
Wdr27 A C 17: 14,913,878 H475Q probably benign Het
Other mutations in Polr1e
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01146:Polr1e APN 4 45031369 missense probably damaging 1.00
IGL01514:Polr1e APN 4 45018723 missense probably benign 0.00
IGL01533:Polr1e APN 4 45019328 missense probably damaging 1.00
R0207:Polr1e UTSW 4 45025143 splice site probably null
R0562:Polr1e UTSW 4 45029421 missense probably damaging 0.99
R0761:Polr1e UTSW 4 45027392 missense probably damaging 0.98
R1472:Polr1e UTSW 4 45028026 missense probably damaging 1.00
R1707:Polr1e UTSW 4 45027469 missense probably damaging 0.99
R2994:Polr1e UTSW 4 45027473 critical splice donor site probably null
R3054:Polr1e UTSW 4 45018724 missense possibly damaging 0.77
R4031:Polr1e UTSW 4 45018685 missense probably benign 0.02
R4195:Polr1e UTSW 4 45019327 missense probably damaging 1.00
R4771:Polr1e UTSW 4 45019282 missense probably damaging 1.00
R4806:Polr1e UTSW 4 45024482 missense probably benign
R4880:Polr1e UTSW 4 45022280 missense probably damaging 1.00
R4964:Polr1e UTSW 4 45029429 missense probably damaging 1.00
R4966:Polr1e UTSW 4 45029429 missense probably damaging 1.00
R5605:Polr1e UTSW 4 45018723 missense probably benign 0.00
R5934:Polr1e UTSW 4 45029369 missense probably damaging 0.99
R6358:Polr1e UTSW 4 45026813 missense probably damaging 1.00
R7241:Polr1e UTSW 4 45029340 missense probably damaging 1.00
R7436:Polr1e UTSW 4 45024553 splice site probably null
X0061:Polr1e UTSW 4 45029436 missense probably damaging 0.99
Posted On2013-04-17