Incidental Mutation 'IGL01146:Polr1e'
ID50984
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 #IGL01146
Quality Score
Status
Chromosome4
Chromosomal Location45018583-45036565 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 45031369 bp
ZygosityHeterozygous
Amino Acid Change Leucine to Serine at position 387 (L387S)
Ref Sequence ENSEMBL: ENSMUSP00000029999 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029999] [ENSMUST00000052236] [ENSMUST00000107814] [ENSMUST00000133157]
Predicted Effect probably damaging
Transcript: ENSMUST00000029999
AA Change: L387S

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000029999
Gene: ENSMUSG00000028318
AA Change: L387S

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 unknown
Transcript: ENSMUST00000054723
AA Change: L311S
SMART Domains Protein: ENSMUSP00000059941
Gene: ENSMUSG00000028318
AA Change: L311S

DomainStartEndE-ValueType
Pfam:RNA_pol_I_A49 24 401 7.9e-104 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000107814
AA Change: L339S

PolyPhen 2 Score 0.176 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000103444
Gene: ENSMUSG00000028318
AA Change: L339S

DomainStartEndE-ValueType
Pfam:RNA_pol_I_A49 49 385 4.1e-105 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000133157
AA Change: L339S

PolyPhen 2 Score 0.176 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000121007
Gene: ENSMUSG00000028318
AA Change: L339S

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: 33 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1810009J06Rik T C 6: 40,966,283 I54T probably damaging Het
4921501E09Rik A G 17: 33,065,383 L815S possibly damaging Het
4930402H24Rik C T 2: 130,770,671 probably null Het
Acss2 T C 2: 155,562,037 V701A possibly damaging Het
Adam6a A T 12: 113,544,220 Y71F probably damaging Het
Arhgef37 A T 18: 61,518,010 I148N possibly damaging Het
Bhlhe40 T C 6: 108,664,940 S282P possibly damaging Het
Bmp2 A T 2: 133,561,300 Q257L probably benign Het
C2cd4d A G 3: 94,364,463 probably benign Het
Calcr T A 6: 3,700,144 Y316F possibly damaging Het
Ccdc186 T C 19: 56,809,317 E274G probably damaging Het
Cdc34b G T 11: 94,742,594 D207Y probably benign Het
Chst5 C T 8: 111,890,682 C102Y probably damaging Het
Cnbd2 T A 2: 156,312,614 probably benign Het
Dnm1l T C 16: 16,314,325 D549G probably benign Het
Gm4847 T A 1: 166,634,952 D323V probably damaging Het
Gm9843 G A 16: 76,403,367 noncoding transcript Het
Gopc A G 10: 52,358,867 V120A probably benign Het
Kmt2c T G 5: 25,308,512 M3095L probably damaging Het
Man1a T C 10: 53,907,519 E629G possibly damaging Het
Pde4b T A 4: 102,255,263 S12T possibly damaging Het
Phf2 A T 13: 48,819,607 L391Q unknown Het
Plekha7 G A 7: 116,157,473 probably benign Het
Pmpcb T A 5: 21,740,478 probably benign Het
Poc1a T C 9: 106,305,304 Y285H probably benign Het
Prr9 A T 3: 92,123,197 C45* probably null Het
Rnf157 T C 11: 116,350,086 H393R probably benign Het
Rps6ka4 A G 19: 6,831,128 F554L probably damaging Het
Sez6l A G 5: 112,428,409 S861P probably damaging Het
Sh3tc2 G T 18: 61,989,511 D448Y probably damaging Het
Smg6 T G 11: 74,930,428 Y508* probably null Het
Sult6b2 C T 6: 142,804,308 G28D probably benign Het
Traf2 C A 2: 25,524,919 C303F probably benign Het
Other mutations in Polr1e
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00973:Polr1e APN 4 45031364 unclassified probably benign
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 On2013-06-21