Incidental Mutation 'IGL03069:Polr3a'
ID409813
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Polr3a
Ensembl Gene ENSMUSG00000025280
Gene Namepolymerase (RNA) III (DNA directed) polypeptide A
SynonymsRPC1, 9330175N20Rik, RPC155
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL03069
Quality Score
Status
Chromosome14
Chromosomal Location24448696-24487058 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 24461740 bp
ZygosityHeterozygous
Amino Acid Change Aspartic acid to Valine at position 916 (D916V)
Ref Sequence ENSEMBL: ENSMUSP00000026322 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000026322] [ENSMUST00000223718]
Predicted Effect probably damaging
Transcript: ENSMUST00000026322
AA Change: D916V

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000026322
Gene: ENSMUSG00000025280
AA Change: D916V

DomainStartEndE-ValueType
Blast:RPOLA_N 122 218 5e-43 BLAST
RPOLA_N 248 553 1.09e-176 SMART
Pfam:RNA_pol_Rpb1_4 728 834 4e-35 PFAM
Pfam:RNA_pol_Rpb1_5 841 1318 1.2e-92 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000223718
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is the catalytic component of RNA polymerase III, which synthesizes small RNAs. The encoded protein also acts as a sensor to detect foreign DNA and trigger an innate immune response. [provided by RefSeq, Aug 2011]
Allele List at MGI
Other mutations in this stock
Total: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700029H14Rik T G 8: 13,557,704 probably null Het
Acpp T C 9: 104,320,005 E145G possibly damaging Het
Ankrd28 T A 14: 31,755,786 K42* probably null Het
Arsg A T 11: 109,563,256 K429N probably damaging Het
Bsn G A 9: 108,114,263 T1430I probably damaging Het
Calu A G 6: 29,356,583 D36G possibly damaging Het
Ccdc18 T C 5: 108,228,901 S1403P probably damaging Het
Cdca2 A G 14: 67,714,936 probably benign Het
Cfh C A 1: 140,099,055 probably benign Het
Cyp2c69 C T 19: 39,881,093 G161S probably benign Het
Dennd4c C A 4: 86,774,437 Y61* probably null Het
Diaph3 A G 14: 86,772,119 S1075P probably damaging Het
Dpp7 T A 2: 25,355,723 probably null Het
Dtd1 T A 2: 144,747,061 probably benign Het
Dtl C A 1: 191,556,896 probably benign Het
Exoc3l4 A G 12: 111,424,023 D344G probably damaging Het
Hsp90ab1 A T 17: 45,569,028 C159S possibly damaging Het
Kcnip2 T C 19: 45,796,271 probably benign Het
Krba1 A G 6: 48,414,549 T755A possibly damaging Het
L2hgdh C T 12: 69,692,399 V433I probably benign Het
Lamc1 A T 1: 153,239,381 L1050I probably damaging Het
Lgals4 A T 7: 28,840,918 I213L probably benign Het
Lysmd1 A G 3: 95,137,634 I64V probably damaging Het
Mfsd4b4 A C 10: 39,892,315 C261G probably benign Het
Mrgprb3 T A 7: 48,643,450 I118F possibly damaging Het
Mtmr2 T A 9: 13,793,205 Y137* probably null Het
Ofcc1 A T 13: 40,072,664 H797Q probably benign Het
Olfr1176 C T 2: 88,340,299 probably null Het
Olfr935 A T 9: 38,995,432 M1K probably null Het
Omd A T 13: 49,592,394 probably benign Het
Prpf38a T C 4: 108,575,431 Y117C probably damaging Het
Scn11a C T 9: 119,789,963 G771D probably benign Het
Smarca4 C T 9: 21,635,836 T219I probably benign Het
Snx1 T A 9: 66,094,624 I306F probably benign Het
Snx31 T A 15: 36,525,603 R317* probably null Het
Sorl1 T C 9: 41,991,426 T1612A probably benign Het
Spag1 G T 15: 36,224,099 probably benign Het
Sssca1 G T 19: 5,730,422 L183I possibly damaging Het
Stambp A G 6: 83,561,932 F162S probably damaging Het
Tkfc T A 19: 10,599,154 M122L probably benign Het
Tnni3k T A 3: 154,941,605 probably null Het
Trim56 T C 5: 137,113,762 Q300R probably damaging Het
Ttc24 T A 3: 88,070,101 T113S probably benign Het
Xirp2 A T 2: 67,509,532 T706S possibly damaging Het
Yipf5 T A 18: 40,206,237 probably benign Het
Zfp202 T C 9: 40,211,399 S486P probably damaging Het
Zfp407 A G 18: 84,350,975 S1676P probably damaging Het
Other mutations in Polr3a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00838:Polr3a APN 14 24475863 missense probably benign 0.35
IGL00974:Polr3a APN 14 24479424 missense probably benign 0.05
IGL01348:Polr3a APN 14 24461763 missense probably damaging 1.00
IGL01464:Polr3a APN 14 24470681 splice site probably benign
IGL01785:Polr3a APN 14 24484120 nonsense probably null
IGL01786:Polr3a APN 14 24484120 nonsense probably null
IGL01936:Polr3a APN 14 24479188 missense probably damaging 1.00
IGL02095:Polr3a APN 14 24454610 missense possibly damaging 0.91
IGL02454:Polr3a APN 14 24475823 missense possibly damaging 0.87
IGL02702:Polr3a APN 14 24470877 missense probably benign 0.07
IGL02961:Polr3a APN 14 24467040 nonsense probably null
R0001:Polr3a UTSW 14 24452189 splice site probably benign
R0048:Polr3a UTSW 14 24469255 splice site probably benign
R0157:Polr3a UTSW 14 24479186 missense probably damaging 0.99
R0445:Polr3a UTSW 14 24454921 missense probably benign 0.00
R0449:Polr3a UTSW 14 24484466 missense probably damaging 0.99
R0597:Polr3a UTSW 14 24484134 missense probably benign 0.29
R0604:Polr3a UTSW 14 24484164 missense probably damaging 1.00
R0644:Polr3a UTSW 14 24484164 missense probably damaging 1.00
R0703:Polr3a UTSW 14 24484164 missense probably damaging 1.00
R0754:Polr3a UTSW 14 24484164 missense probably damaging 1.00
R0767:Polr3a UTSW 14 24484164 missense probably damaging 1.00
R0816:Polr3a UTSW 14 24484164 missense probably damaging 1.00
R0817:Polr3a UTSW 14 24484164 missense probably damaging 1.00
R0819:Polr3a UTSW 14 24484164 missense probably damaging 1.00
R0840:Polr3a UTSW 14 24452200 missense possibly damaging 0.95
R1481:Polr3a UTSW 14 24452548 missense probably null 0.98
R1644:Polr3a UTSW 14 24470624 missense probably damaging 1.00
R1699:Polr3a UTSW 14 24484164 missense probably damaging 1.00
R1704:Polr3a UTSW 14 24484120 nonsense probably null
R2363:Polr3a UTSW 14 24475892 splice site probably null
R3419:Polr3a UTSW 14 24467035 missense probably damaging 1.00
R3934:Polr3a UTSW 14 24476101 missense probably benign 0.30
R4296:Polr3a UTSW 14 24453196 missense possibly damaging 0.82
R4611:Polr3a UTSW 14 24452508 splice site probably null
R4690:Polr3a UTSW 14 24464281 missense possibly damaging 0.78
R4934:Polr3a UTSW 14 24452624 missense probably benign 0.11
R4947:Polr3a UTSW 14 24482464 missense probably benign 0.00
R5232:Polr3a UTSW 14 24453211 missense probably benign 0.00
R5263:Polr3a UTSW 14 24454941 missense possibly damaging 0.65
R5264:Polr3a UTSW 14 24454941 missense possibly damaging 0.65
R5265:Polr3a UTSW 14 24454941 missense possibly damaging 0.65
R5282:Polr3a UTSW 14 24454941 missense possibly damaging 0.65
R5319:Polr3a UTSW 14 24454941 missense possibly damaging 0.65
R5321:Polr3a UTSW 14 24454941 missense possibly damaging 0.65
R5323:Polr3a UTSW 14 24454941 missense possibly damaging 0.65
R5387:Polr3a UTSW 14 24454941 missense possibly damaging 0.65
R5388:Polr3a UTSW 14 24454941 missense possibly damaging 0.65
R5401:Polr3a UTSW 14 24454941 missense possibly damaging 0.65
R5402:Polr3a UTSW 14 24454941 missense possibly damaging 0.65
R5443:Polr3a UTSW 14 24454941 missense possibly damaging 0.65
R5444:Polr3a UTSW 14 24454941 missense possibly damaging 0.65
R5725:Polr3a UTSW 14 24465387 splice site probably null
R5841:Polr3a UTSW 14 24450698 missense probably benign 0.00
R6408:Polr3a UTSW 14 24486871 critical splice donor site probably null
R6704:Polr3a UTSW 14 24461842 missense probably damaging 1.00
R7136:Polr3a UTSW 14 24461815 missense probably damaging 1.00
R7307:Polr3a UTSW 14 24459987 missense probably benign 0.03
R7368:Polr3a UTSW 14 24467076 missense probably damaging 0.98
R7800:Polr3a UTSW 14 24484387 missense probably null 0.83
Z1088:Polr3a UTSW 14 24479724 missense probably damaging 0.96
Posted On2016-08-02