Incidental Mutation 'IGL02640:Polr3c'
ID301697
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Polr3c
Ensembl Gene ENSMUSG00000028099
Gene Namepolymerase (RNA) III (DNA directed) polypeptide C
Synonyms4933407E01Rik, RPC62, RPC3
Accession Numbers
Is this an essential gene? Probably essential (E-score: 0.962) question?
Stock #IGL02640
Quality Score
Status
Chromosome3
Chromosomal Location96711490-96727628 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to A at 96716686 bp
ZygosityHeterozygous
Amino Acid Change Threonine to Methionine at position 312 (T312M)
Ref Sequence ENSEMBL: ENSMUSP00000122435 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029741] [ENSMUST00000154679]
Predicted Effect probably damaging
Transcript: ENSMUST00000029741
AA Change: T312M

PolyPhen 2 Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000029741
Gene: ENSMUSG00000028099
AA Change: T312M

DomainStartEndE-ValueType
Pfam:HTH_9 7 68 9.4e-26 PFAM
Pfam:RNA_pol_Rpc82 146 344 7.6e-46 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000128918
SMART Domains Protein: ENSMUSP00000119236
Gene: ENSMUSG00000028099

DomainStartEndE-ValueType
Pfam:RNA_pol_Rpc82 20 180 5.9e-32 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000137009
Predicted Effect probably damaging
Transcript: ENSMUST00000154679
AA Change: T312M

PolyPhen 2 Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000122435
Gene: ENSMUSG00000028099
AA Change: T312M

DomainStartEndE-ValueType
Pfam:HTH_9 7 68 1.6e-26 PFAM
Pfam:RNA_pol_Rpc82 146 344 7.6e-46 PFAM
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 34 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4932429P05Rik T C X: 89,752,604 V14A probably benign Het
Alkbh3 C A 2: 93,996,361 R165L possibly damaging Het
Arap3 A G 18: 37,987,802 V730A possibly damaging Het
Arcn1 A C 9: 44,751,317 I344S probably damaging Het
Ascc3 A C 10: 50,767,374 D1807A possibly damaging Het
Atp2b3 A G X: 73,542,205 S615G probably benign Het
Ccdc40 A G 11: 119,238,078 N450S probably benign Het
Cep41 T C 6: 30,658,868 E160G probably benign Het
Cxxc1 T C 18: 74,221,183 L654P probably damaging Het
Dupd1 T A 14: 21,703,055 T8S probably damaging Het
Gnb4 C T 3: 32,591,225 A106T probably benign Het
Gosr1 T C 11: 76,754,777 N59S probably benign Het
Itgav A G 2: 83,791,939 T622A probably benign Het
Lamc2 A G 1: 153,152,057 I207T probably damaging Het
Lce1c C A 3: 92,680,538 probably benign Het
Mcm3ap G T 10: 76,506,421 D1583Y probably damaging Het
Mphosph9 A T 5: 124,315,500 F220I possibly damaging Het
Olfr113 A G 17: 37,575,021 V134A possibly damaging Het
Olfr698 A T 7: 106,753,352 F12Y probably damaging Het
Plcb1 T G 2: 135,220,859 probably benign Het
Ptpn12 G T 5: 21,019,246 D116E probably damaging Het
Ptprb A G 10: 116,338,664 D747G probably damaging Het
Scn9a A G 2: 66,536,096 probably null Het
Slit3 T C 11: 35,700,345 V1328A probably benign Het
Sucla2 C A 14: 73,581,806 S264Y probably benign Het
Tagln3 T C 16: 45,724,233 D25G probably benign Het
Tbck A G 3: 132,774,486 T709A probably benign Het
Tead1 C T 7: 112,861,456 A189V probably benign Het
Tmem234 A G 4: 129,601,103 Q46R probably damaging Het
Trpm1 T A 7: 64,219,133 L395Q probably damaging Het
Tti2 T A 8: 31,155,914 W419R probably damaging Het
Vmn2r3 A T 3: 64,287,395 M34K probably benign Het
Vps13c G T 9: 67,886,248 probably benign Het
Zfp521 A T 18: 13,844,930 Y809N probably benign Het
Other mutations in Polr3c
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01734:Polr3c APN 3 96713520 missense probably damaging 1.00
IGL01904:Polr3c APN 3 96716665 critical splice donor site probably null
IGL01964:Polr3c APN 3 96711975 unclassified probably benign
IGL02955:Polr3c APN 3 96714312 missense probably damaging 1.00
IGL03129:Polr3c APN 3 96719454 splice site probably benign
IGL03263:Polr3c APN 3 96714251 splice site probably benign
R0503:Polr3c UTSW 3 96713636 splice site probably null
R0800:Polr3c UTSW 3 96719311 missense probably damaging 0.99
R0881:Polr3c UTSW 3 96723847 missense probably damaging 0.99
R1763:Polr3c UTSW 3 96713595 missense probably damaging 1.00
R1931:Polr3c UTSW 3 96719298 missense probably damaging 1.00
R1932:Polr3c UTSW 3 96719298 missense probably damaging 1.00
R1994:Polr3c UTSW 3 96714373 splice site probably null
R3771:Polr3c UTSW 3 96725854 missense probably damaging 1.00
R4116:Polr3c UTSW 3 96715244 missense probably damaging 1.00
R4614:Polr3c UTSW 3 96716471 missense probably benign 0.00
R4732:Polr3c UTSW 3 96723661 missense probably damaging 1.00
R4733:Polr3c UTSW 3 96723661 missense probably damaging 1.00
R5057:Polr3c UTSW 3 96712057 missense probably damaging 0.98
R5058:Polr3c UTSW 3 96723517 missense probably benign 0.01
R5756:Polr3c UTSW 3 96714134 missense probably damaging 1.00
R6005:Polr3c UTSW 3 96719468 missense possibly damaging 0.96
R6009:Polr3c UTSW 3 96713614 missense probably damaging 1.00
R6580:Polr3c UTSW 3 96727343 splice site probably null
R7003:Polr3c UTSW 3 96723638 missense possibly damaging 0.94
Posted On2015-04-16