Incidental Mutation 'IGL01617:Polr2i'
ID92422
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Polr2i
Ensembl Gene ENSMUSG00000019738
Gene Namepolymerase (RNA) II (DNA directed) polypeptide I
Synonyms
Accession Numbers
Is this an essential gene? Probably essential (E-score: 0.965) question?
Stock #IGL01617
Quality Score
Status
Chromosome7
Chromosomal Location30231948-30233390 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 30232392 bp
ZygosityHeterozygous
Amino Acid Change Phenylalanine to Serine at position 16 (F16S)
Ref Sequence ENSEMBL: ENSMUSP00000019882 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000006254] [ENSMUST00000019882] [ENSMUST00000108192] [ENSMUST00000108193] [ENSMUST00000149654] [ENSMUST00000189482]
Predicted Effect probably benign
Transcript: ENSMUST00000006254
SMART Domains Protein: ENSMUSP00000006254
Gene: ENSMUSG00000006095

DomainStartEndE-ValueType
Pfam:Ubiquitin_2 10 94 9.6e-30 PFAM
low complexity region 135 152 N/A INTRINSIC
CAP_GLY 161 230 4.76e-35 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000019882
AA Change: F16S

PolyPhen 2 Score 0.711 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000019882
Gene: ENSMUSG00000019738
AA Change: F16S

DomainStartEndE-ValueType
RPOL9 15 68 1.22e-24 SMART
ZnF_C2C2 84 125 2.18e-11 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000108192
SMART Domains Protein: ENSMUSP00000103827
Gene: ENSMUSG00000019738

DomainStartEndE-ValueType
RPOL9 1 46 5.45e-13 SMART
ZnF_C2C2 62 103 2.18e-11 SMART
Predicted Effect unknown
Transcript: ENSMUST00000108193
AA Change: F16S
SMART Domains Protein: ENSMUSP00000103828
Gene: ENSMUSG00000019738
AA Change: F16S

DomainStartEndE-ValueType
Pfam:RNA_POL_M_15KD 14 41 1.8e-14 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000138118
Predicted Effect noncoding transcript
Transcript: ENSMUST00000138886
Predicted Effect noncoding transcript
Transcript: ENSMUST00000145559
Predicted Effect probably benign
Transcript: ENSMUST00000149654
SMART Domains Protein: ENSMUSP00000116741
Gene: ENSMUSG00000019738

DomainStartEndE-ValueType
RPOL9 1 46 5.45e-13 SMART
Blast:ZnF_C2C2 62 83 2e-8 BLAST
Predicted Effect noncoding transcript
Transcript: ENSMUST00000150841
Predicted Effect probably benign
Transcript: ENSMUST00000189482
SMART Domains Protein: ENSMUSP00000140811
Gene: ENSMUSG00000100512

DomainStartEndE-ValueType
ZnF_C2H2 69 91 3.2e-4 SMART
ZnF_C2H2 97 119 1.4e-6 SMART
ZnF_C2H2 125 148 3.2e-5 SMART
ZnF_C2H2 164 186 5.3e-4 SMART
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a subunit of RNA polymerase II, the polymerase responsible for synthesizing messenger RNA in eukaryotes. This subunit, in combination with two other polymerase subunits, forms the DNA binding domain of the polymerase, a groove in which the DNA template is transcribed into RNA. The product of this gene has two zinc finger motifs with conserved cysteines and the subunit does possess zinc binding activity. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 27 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aass T A 6: 23,115,150 I160F possibly damaging Het
BC037034 A T 5: 138,262,216 L47Q probably damaging Het
Cacna1d C T 14: 30,102,371 A1030T probably damaging Het
Ceacam13 A T 7: 18,011,383 D126V possibly damaging Het
Cep68 G T 11: 20,239,510 Q501K probably benign Het
Cfhr1 A T 1: 139,553,679 C154* probably null Het
Chd3 A G 11: 69,358,234 probably benign Het
Chrna5 A G 9: 55,005,013 M262V probably damaging Het
Csrnp2 T C 15: 100,484,643 Y172C probably benign Het
Dzip1 G T 14: 118,881,065 P752Q probably benign Het
Frem1 G A 4: 82,936,139 T1630I probably benign Het
Gabrr1 G A 4: 33,162,634 S400N probably benign Het
Hmcn1 C T 1: 150,672,032 A2723T probably benign Het
Htt A G 5: 34,876,755 H1895R possibly damaging Het
Kif21a T C 15: 90,995,637 probably benign Het
Mitf A G 6: 97,996,428 I241V probably benign Het
Mterf1b A T 5: 4,196,503 D48V probably benign Het
Nmbr G T 10: 14,770,429 R349M probably benign Het
Pik3r4 T C 9: 105,654,965 S579P probably benign Het
Psmg2 G A 18: 67,653,223 V218I probably benign Het
Rgs11 A G 17: 26,208,250 H385R probably damaging Het
Rufy4 G A 1: 74,129,354 G99R probably damaging Het
Slc29a1 A G 17: 45,589,449 F185S probably benign Het
Spag17 G A 3: 100,109,508 V2200I possibly damaging Het
Ttc7b G T 12: 100,385,956 A414D possibly damaging Het
Ugt2b37 A T 5: 87,251,879 W257R probably damaging Het
Ythdc2 A G 18: 44,841,415 I381M possibly damaging Het
Other mutations in Polr2i
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0086:Polr2i UTSW 7 30233086 missense probably damaging 1.00
R0594:Polr2i UTSW 7 30232745 splice site probably null
R1474:Polr2i UTSW 7 30232802 missense probably damaging 1.00
R1730:Polr2i UTSW 7 30233068 missense probably damaging 1.00
R1783:Polr2i UTSW 7 30233068 missense probably damaging 1.00
R8783:Polr2i UTSW 7 30232365 missense possibly damaging 0.96
Posted On2013-12-09