Incidental Mutation 'R0840:Polr3a'
ID 77134
Institutional Source Beutler Lab
Gene Symbol Polr3a
Ensembl Gene ENSMUSG00000025280
Gene Name polymerase (RNA) III (DNA directed) polypeptide A
Synonyms RPC155, 9330175N20Rik, RPC1
MMRRC Submission 039019-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R0840 (G1)
Quality Score 125
Status Validated
Chromosome 14
Chromosomal Location 24498764-24537126 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 24502268 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Isoleucine at position 1295 (T1295I)
Ref Sequence ENSEMBL: ENSMUSP00000026322 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000026322] [ENSMUST00000223718]
AlphaFold B2RXC6
Predicted Effect possibly damaging
Transcript: ENSMUST00000026322
AA Change: T1295I

PolyPhen 2 Score 0.952 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000026322
Gene: ENSMUSG00000025280
AA Change: T1295I

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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000223848
Meta Mutation Damage Score 0.8923 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.1%
  • 20x: 94.1%
Validation Efficiency 100% (51/51)
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: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2700049A03Rik C G 12: 71,205,657 (GRCm39) Q434E probably benign Het
A930011G23Rik T C 5: 99,382,547 (GRCm39) T234A probably benign Het
Acot5 G A 12: 84,122,614 (GRCm39) W399* probably null Het
Adra1a A G 14: 66,965,159 (GRCm39) E383G possibly damaging Het
Ahnak T A 19: 8,982,427 (GRCm39) I1237N probably damaging Het
Bsg A G 10: 79,545,519 (GRCm39) T28A probably damaging Het
Cacna1i A T 15: 80,243,150 (GRCm39) I436F possibly damaging Het
Cd109 T C 9: 78,571,612 (GRCm39) I417T probably benign Het
Cep295 A T 9: 15,245,611 (GRCm39) D948E probably benign Het
Cfap92 G T 6: 87,657,260 (GRCm39) noncoding transcript Het
Clcn3 C A 8: 61,382,188 (GRCm39) V467F probably benign Het
Cntnap3 T C 13: 64,935,724 (GRCm39) S380G possibly damaging Het
Dab1 C T 4: 104,588,948 (GRCm39) A524V probably benign Het
Dll4 T A 2: 119,156,966 (GRCm39) N79K probably benign Het
Ep300 A T 15: 81,529,134 (GRCm39) N1558I unknown Het
Fblim1 A G 4: 141,308,320 (GRCm39) F330L possibly damaging Het
Fbxo46 T A 7: 18,871,073 (GRCm39) M564K possibly damaging Het
Fnip1 T A 11: 54,384,007 (GRCm39) probably benign Het
Foxl2 A T 9: 98,837,984 (GRCm39) K91* probably null Het
Gapvd1 C A 2: 34,619,125 (GRCm39) V83F probably benign Het
Guk1 G A 11: 59,075,921 (GRCm39) R146C probably damaging Het
Irf8 G A 8: 121,480,220 (GRCm39) G153S probably benign Het
Kcnu1 T A 8: 26,403,712 (GRCm39) M1K probably null Het
Krt32 G A 11: 99,972,068 (GRCm39) P427S probably benign Het
Lrp12 A G 15: 39,739,554 (GRCm39) S529P probably damaging Het
Mettl22 T C 16: 8,300,021 (GRCm39) V134A probably damaging Het
Morc2b G T 17: 33,355,086 (GRCm39) H895Q probably benign Het
Nrros T C 16: 31,962,241 (GRCm39) D556G probably damaging Het
Nrxn3 A G 12: 90,298,567 (GRCm39) S1367G possibly damaging Het
Or10al7 A G 17: 38,366,463 (GRCm39) F7S probably benign Het
Or56b1b A T 7: 108,164,823 (GRCm39) S60T probably benign Het
Pcnx3 T A 19: 5,735,729 (GRCm39) probably null Het
Pgap2 A T 7: 101,886,655 (GRCm39) M226L probably damaging Het
Pik3c2g A G 6: 139,841,798 (GRCm39) I616M probably damaging Het
Pisd A G 5: 32,894,656 (GRCm39) I380T probably damaging Het
Pkhd1 T C 1: 20,420,745 (GRCm39) I2454V probably damaging Het
Plpp2 A G 10: 79,363,378 (GRCm39) I151T probably benign Het
Pot1a T C 6: 25,748,283 (GRCm39) probably benign Het
Prpf39 T G 12: 65,094,980 (GRCm39) N219K probably benign Het
Rnf17 T A 14: 56,712,904 (GRCm39) N790K probably damaging Het
Slit3 C T 11: 35,514,263 (GRCm39) probably benign Het
Stx1a T A 5: 135,070,088 (GRCm39) probably benign Het
Tenm3 C A 8: 48,788,777 (GRCm39) V690F probably damaging Het
Tmcc3 A G 10: 94,414,633 (GRCm39) I143V probably benign Het
Tmem41b G A 7: 109,580,256 (GRCm39) S36F probably damaging Het
Trim5 A T 7: 103,914,978 (GRCm39) W364R probably damaging Het
Ttn T C 2: 76,617,155 (GRCm39) Y16403C probably damaging Het
Vps8 T C 16: 21,275,071 (GRCm39) S210P probably damaging Het
Zbtb3 T A 19: 8,780,821 (GRCm39) S145T possibly damaging Het
Zfp882 T A 8: 72,668,530 (GRCm39) C452* probably null Het
Other mutations in Polr3a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00838:Polr3a APN 14 24,525,931 (GRCm39) missense probably benign 0.35
IGL00974:Polr3a APN 14 24,529,492 (GRCm39) missense probably benign 0.05
IGL01348:Polr3a APN 14 24,511,831 (GRCm39) missense probably damaging 1.00
IGL01464:Polr3a APN 14 24,520,749 (GRCm39) splice site probably benign
IGL01785:Polr3a APN 14 24,534,188 (GRCm39) nonsense probably null
IGL01786:Polr3a APN 14 24,534,188 (GRCm39) nonsense probably null
IGL01936:Polr3a APN 14 24,529,256 (GRCm39) missense probably damaging 1.00
IGL02095:Polr3a APN 14 24,504,678 (GRCm39) missense possibly damaging 0.91
IGL02454:Polr3a APN 14 24,525,891 (GRCm39) missense possibly damaging 0.87
IGL02702:Polr3a APN 14 24,520,945 (GRCm39) missense probably benign 0.07
IGL02961:Polr3a APN 14 24,517,108 (GRCm39) nonsense probably null
IGL03069:Polr3a APN 14 24,511,808 (GRCm39) missense probably damaging 0.99
R0001:Polr3a UTSW 14 24,502,257 (GRCm39) splice site probably benign
R0048:Polr3a UTSW 14 24,519,323 (GRCm39) splice site probably benign
R0157:Polr3a UTSW 14 24,529,254 (GRCm39) missense probably damaging 0.99
R0445:Polr3a UTSW 14 24,504,989 (GRCm39) missense probably benign 0.00
R0449:Polr3a UTSW 14 24,534,534 (GRCm39) missense probably damaging 0.99
R0597:Polr3a UTSW 14 24,534,202 (GRCm39) missense probably benign 0.29
R0604:Polr3a UTSW 14 24,534,232 (GRCm39) missense probably damaging 1.00
R0644:Polr3a UTSW 14 24,534,232 (GRCm39) missense probably damaging 1.00
R0703:Polr3a UTSW 14 24,534,232 (GRCm39) missense probably damaging 1.00
R0754:Polr3a UTSW 14 24,534,232 (GRCm39) missense probably damaging 1.00
R0767:Polr3a UTSW 14 24,534,232 (GRCm39) missense probably damaging 1.00
R0816:Polr3a UTSW 14 24,534,232 (GRCm39) missense probably damaging 1.00
R0817:Polr3a UTSW 14 24,534,232 (GRCm39) missense probably damaging 1.00
R0819:Polr3a UTSW 14 24,534,232 (GRCm39) missense probably damaging 1.00
R1481:Polr3a UTSW 14 24,502,616 (GRCm39) missense probably null 0.98
R1644:Polr3a UTSW 14 24,520,692 (GRCm39) missense probably damaging 1.00
R1699:Polr3a UTSW 14 24,534,232 (GRCm39) missense probably damaging 1.00
R1704:Polr3a UTSW 14 24,534,188 (GRCm39) nonsense probably null
R2363:Polr3a UTSW 14 24,525,960 (GRCm39) splice site probably null
R3419:Polr3a UTSW 14 24,517,103 (GRCm39) missense probably damaging 1.00
R3934:Polr3a UTSW 14 24,526,169 (GRCm39) missense probably benign 0.30
R4296:Polr3a UTSW 14 24,503,264 (GRCm39) missense possibly damaging 0.82
R4611:Polr3a UTSW 14 24,502,576 (GRCm39) splice site probably null
R4690:Polr3a UTSW 14 24,514,349 (GRCm39) missense possibly damaging 0.78
R4934:Polr3a UTSW 14 24,502,692 (GRCm39) missense probably benign 0.11
R4947:Polr3a UTSW 14 24,532,532 (GRCm39) missense probably benign 0.00
R5232:Polr3a UTSW 14 24,503,279 (GRCm39) missense probably benign 0.00
R5263:Polr3a UTSW 14 24,505,009 (GRCm39) missense possibly damaging 0.65
R5264:Polr3a UTSW 14 24,505,009 (GRCm39) missense possibly damaging 0.65
R5265:Polr3a UTSW 14 24,505,009 (GRCm39) missense possibly damaging 0.65
R5282:Polr3a UTSW 14 24,505,009 (GRCm39) missense possibly damaging 0.65
R5319:Polr3a UTSW 14 24,505,009 (GRCm39) missense possibly damaging 0.65
R5321:Polr3a UTSW 14 24,505,009 (GRCm39) missense possibly damaging 0.65
R5323:Polr3a UTSW 14 24,505,009 (GRCm39) missense possibly damaging 0.65
R5387:Polr3a UTSW 14 24,505,009 (GRCm39) missense possibly damaging 0.65
R5388:Polr3a UTSW 14 24,505,009 (GRCm39) missense possibly damaging 0.65
R5401:Polr3a UTSW 14 24,505,009 (GRCm39) missense possibly damaging 0.65
R5402:Polr3a UTSW 14 24,505,009 (GRCm39) missense possibly damaging 0.65
R5443:Polr3a UTSW 14 24,505,009 (GRCm39) missense possibly damaging 0.65
R5444:Polr3a UTSW 14 24,505,009 (GRCm39) missense possibly damaging 0.65
R5725:Polr3a UTSW 14 24,515,455 (GRCm39) splice site probably null
R5841:Polr3a UTSW 14 24,500,766 (GRCm39) missense probably benign 0.00
R6408:Polr3a UTSW 14 24,536,939 (GRCm39) critical splice donor site probably null
R6704:Polr3a UTSW 14 24,511,910 (GRCm39) missense probably damaging 1.00
R7136:Polr3a UTSW 14 24,511,883 (GRCm39) missense probably damaging 1.00
R7307:Polr3a UTSW 14 24,510,055 (GRCm39) missense probably benign 0.03
R7368:Polr3a UTSW 14 24,517,144 (GRCm39) missense probably damaging 0.98
R7800:Polr3a UTSW 14 24,534,455 (GRCm39) missense probably null 0.83
R8753:Polr3a UTSW 14 24,513,702 (GRCm39) nonsense probably null
R8785:Polr3a UTSW 14 24,502,383 (GRCm39) missense probably benign 0.06
R8848:Polr3a UTSW 14 24,500,834 (GRCm39) missense probably damaging 1.00
R9025:Polr3a UTSW 14 24,519,479 (GRCm39) missense probably damaging 1.00
R9139:Polr3a UTSW 14 24,519,416 (GRCm39) missense probably damaging 1.00
R9264:Polr3a UTSW 14 24,520,899 (GRCm39) missense probably benign
R9309:Polr3a UTSW 14 24,510,067 (GRCm39) missense probably benign
R9363:Polr3a UTSW 14 24,500,831 (GRCm39) missense probably damaging 1.00
R9526:Polr3a UTSW 14 24,503,313 (GRCm39) missense probably benign 0.00
R9585:Polr3a UTSW 14 24,502,289 (GRCm39) missense probably damaging 1.00
Z1088:Polr3a UTSW 14 24,529,792 (GRCm39) missense probably damaging 0.96
Predicted Primers PCR Primer
(F):5'- ACTACCTGTGTTGAAATTCTGCCCC -3'
(R):5'- AGTTGCTGACCCCGACATTTGC -3'

Sequencing Primer
(F):5'- TATCCAGGTCAGTCCTCACA -3'
(R):5'- CAATTGCATAGCAATCTGTTGTGG -3'
Posted On 2013-10-16