Incidental Mutation 'IGL01734:Polr3c'
ID105598
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: 0.936) question?
Stock #IGL01734
Quality Score
Status
Chromosome3
Chromosomal Location96711490-96727628 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 96713520 bp
ZygosityHeterozygous
Amino Acid Change Glutamic Acid to Glycine at position 494 (E494G)
Ref Sequence ENSEMBL: ENSMUSP00000122435 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029741] [ENSMUST00000029742] [ENSMUST00000154679] [ENSMUST00000171249] [ENSMUST00000200387]
Predicted Effect probably damaging
Transcript: ENSMUST00000029741
AA Change: E494G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000029741
Gene: ENSMUSG00000028099
AA Change: E494G

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: ENSMUST00000029742
SMART Domains Protein: ENSMUSP00000029742
Gene: ENSMUSG00000028100

DomainStartEndE-ValueType
low complexity region 2 14 N/A INTRINSIC
Pfam:NUDIX 92 252 2.2e-9 PFAM
low complexity region 273 288 N/A INTRINSIC
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 probably damaging
Transcript: ENSMUST00000154679
AA Change: E494G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000122435
Gene: ENSMUSG00000028099
AA Change: E494G

DomainStartEndE-ValueType
Pfam:HTH_9 7 68 1.6e-26 PFAM
Pfam:RNA_pol_Rpc82 146 344 7.6e-46 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000171249
SMART Domains Protein: ENSMUSP00000129851
Gene: ENSMUSG00000028100

DomainStartEndE-ValueType
low complexity region 2 14 N/A INTRINSIC
Pfam:NUDIX 92 235 1.2e-18 PFAM
low complexity region 256 271 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000200387
SMART Domains Protein: ENSMUSP00000142879
Gene: ENSMUSG00000028100

DomainStartEndE-ValueType
signal peptide 1 16 N/A INTRINSIC
Pfam:NUDIX 79 125 4.2e-6 PFAM
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4932442E05Rik T A 10: 118,861,466 W210R possibly damaging Het
Aknad1 T C 3: 108,751,901 M77T probably benign Het
Aox2 A T 1: 58,354,310 I1210F possibly damaging Het
Brd8 A T 18: 34,614,805 probably benign Het
Cdh23 T C 10: 60,303,513 D3307G probably benign Het
Chsy1 T C 7: 66,171,310 I431T probably damaging Het
Cobl A G 11: 12,254,980 probably benign Het
Col28a1 T C 6: 8,158,134 D308G probably damaging Het
Csmd3 A G 15: 48,185,304 Y568H probably damaging Het
Dmrt3 T C 19: 25,622,583 I264T probably damaging Het
Dusp22 G T 13: 30,696,252 C52F probably damaging Het
Fbxw22 A C 9: 109,383,925 M318R probably damaging Het
Ffar4 C T 19: 38,113,847 T310M probably damaging Het
Fn1 A G 1: 71,619,485 V1138A probably damaging Het
Glt6d1 T A 2: 25,794,493 Y167F probably benign Het
Hydin T A 8: 110,490,789 Y1436* probably null Het
Il12a G A 3: 68,691,555 C2Y possibly damaging Het
Inpp5a T C 7: 139,454,090 Y38H possibly damaging Het
Jmy A C 13: 93,459,651 L490R probably damaging Het
Kif26a T A 12: 112,176,828 L1172H probably benign Het
Kmo A T 1: 175,655,102 M331L probably benign Het
Lonp1 G A 17: 56,616,026 T627M probably damaging Het
Lrrc41 T C 4: 116,093,134 probably null Het
Mast4 A T 13: 102,737,615 S1556R probably damaging Het
Mmel1 A G 4: 154,891,951 N490S probably benign Het
Mpped2 A G 2: 106,783,813 D164G probably damaging Het
Nap1l1 A G 10: 111,492,899 T230A probably benign Het
Nrap C A 19: 56,350,309 A913S probably damaging Het
Nudt16 G T 9: 105,131,508 Q65K probably benign Het
Olfr1039 T A 2: 86,131,668 probably benign Het
Olfr199 T G 16: 59,216,429 L61F probably benign Het
Olfr201 T A 16: 59,268,850 K272N probably benign Het
Olfr382 C A 11: 73,516,636 A188S probably benign Het
Olfr813 T A 10: 129,856,802 C95S probably benign Het
Parp14 A G 16: 35,858,600 F333L probably benign Het
Pi4ka G T 16: 17,297,260 Q1422K probably benign Het
Prss42 C A 9: 110,798,343 P49Q probably benign Het
Ptpra C T 2: 130,544,077 T568I probably damaging Het
Ring1 T C 17: 34,023,320 D71G probably damaging Het
Siae T A 9: 37,631,486 S193T probably damaging Het
Slf2 T C 19: 44,973,267 probably null Het
Spinkl T A 18: 44,174,572 K7N possibly damaging Het
Tbk1 G A 10: 121,571,983 R82* probably null Het
Tcf12 T C 9: 71,922,648 probably null Het
Tcl1b5 G A 12: 105,178,955 M59I probably benign Het
Thumpd3 C A 6: 113,066,845 T407K probably damaging Het
Timm29 T C 9: 21,593,735 V233A probably damaging Het
Tns3 A G 11: 8,519,192 probably benign Het
Ubash3b T C 9: 41,026,247 probably benign Het
Ugdh G T 5: 65,422,688 T253K probably benign Het
Zfp143 T A 7: 110,072,209 probably benign Het
Zfp738 A G 13: 67,683,444 probably benign Het
Other mutations in Polr3c
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01904:Polr3c APN 3 96716665 critical splice donor site probably null
IGL01964:Polr3c APN 3 96711975 unclassified probably benign
IGL02640:Polr3c APN 3 96716686 missense probably damaging 0.98
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
Posted On2014-01-21