Incidental Mutation 'IGL01514:Polr1e'
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ID89324
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 #IGL01514
Quality Score
Status
Chromosome4
Chromosomal Location45018583-45036565 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 45018723 bp
ZygosityHeterozygous
Amino Acid Change Threonine to Alanine at position 18 (T18A)
Ref Sequence ENSEMBL: ENSMUSP00000121007 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029999] [ENSMUST00000107814] [ENSMUST00000133157]
Predicted Effect probably benign
Transcript: ENSMUST00000029999
AA Change: T18A

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000029999
Gene: ENSMUSG00000028318
AA Change: T18A

DomainStartEndE-ValueType
Pfam:RNA_pol_I_A49 51 476 2.1e-98 PFAM
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 noncoding transcript
Transcript: ENSMUST00000095105
Predicted Effect probably benign
Transcript: ENSMUST00000107814
AA Change: T18A

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000103444
Gene: ENSMUSG00000028318
AA Change: T18A

DomainStartEndE-ValueType
Pfam:RNA_pol_I_A49 49 385 4.1e-105 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000133157
AA Change: T18A

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000121007
Gene: ENSMUSG00000028318
AA Change: T18A

DomainStartEndE-ValueType
Pfam:RNA_pol_I_A49 49 431 1.4e-117 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000149284
Predicted Effect noncoding transcript
Transcript: ENSMUST00000186030
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 34 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Accs A G 2: 93,839,242 probably benign Het
Actl7b T C 4: 56,740,677 Y227C probably damaging Het
Adam26a A T 8: 43,568,448 H668Q probably benign Het
Alcam A T 16: 52,274,290 probably benign Het
Aldh3a2 C T 11: 61,253,798 probably benign Het
Atp11b G T 3: 35,836,981 G801V probably damaging Het
C3 G A 17: 57,215,866 T1006I probably benign Het
Cacna2d4 T C 6: 119,282,173 probably benign Het
Cldn34b3 A T X: 76,267,074 I83F probably damaging Het
Clec2g G A 6: 128,948,773 M48I probably benign Het
Coch A G 12: 51,603,353 D375G probably damaging Het
Erbb2 C T 11: 98,432,919 T653I possibly damaging Het
Etv3 A G 3: 87,535,718 H203R possibly damaging Het
Fat4 A G 3: 38,949,534 R1801G possibly damaging Het
Gars T A 6: 55,065,520 S413T probably benign Het
Gnat1 G A 9: 107,676,301 R253C possibly damaging Het
Hook3 A T 8: 26,088,189 L91I possibly damaging Het
Lrp8 T C 4: 107,855,684 Y377H probably damaging Het
Lztr1 G A 16: 17,522,391 probably null Het
Malt1 A G 18: 65,476,400 D825G possibly damaging Het
Nlrp9b T C 7: 20,045,934 probably null Het
Olfr1396 A T 11: 49,113,576 I50N probably damaging Het
Olfr54 C T 11: 51,027,589 R196* probably null Het
Orc1 A G 4: 108,602,052 R473G probably damaging Het
Pard6g G A 18: 80,117,446 R258H probably damaging Het
Pkdrej T C 15: 85,818,063 D1224G possibly damaging Het
Pycrl T C 15: 75,917,004 T240A probably damaging Het
Ralgapa1 C A 12: 55,719,657 G1284V probably damaging Het
Rcl1 T C 19: 29,143,298 probably benign Het
Sec24c C T 14: 20,682,771 T134I possibly damaging Het
Sis A G 3: 72,935,920 probably benign Het
Susd5 A C 9: 114,068,879 probably benign Het
Tlk1 T C 2: 70,752,266 N173S probably benign Het
Uroc1 T C 6: 90,363,100 probably benign Het
Other mutations in Polr1e
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00973:Polr1e APN 4 45031364 unclassified probably benign
IGL01146:Polr1e APN 4 45031369 missense probably damaging 1.00
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 On2013-12-03