Incidental Mutation 'R1763:Polr3c'
ID 193175
Institutional Source Beutler Lab
Gene Symbol Polr3c
Ensembl Gene ENSMUSG00000028099
Gene Name polymerase (RNA) III (DNA directed) polypeptide C
Synonyms 4933407E01Rik, RPC62, RPC3
MMRRC Submission 039795-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.961) question?
Stock # R1763 (G1)
Quality Score 225
Status Validated
Chromosome 3
Chromosomal Location 96618836-96634803 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 96620911 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Asparagine at position 469 (I469N)
Ref Sequence ENSEMBL: ENSMUSP00000122435 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029741] [ENSMUST00000154679]
AlphaFold Q9D483
Predicted Effect probably damaging
Transcript: ENSMUST00000029741
AA Change: I469N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000029741
Gene: ENSMUSG00000028099
AA Change: I469N

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 probably damaging
Transcript: ENSMUST00000154679
AA Change: I469N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000122435
Gene: ENSMUSG00000028099
AA Change: I469N

DomainStartEndE-ValueType
Pfam:HTH_9 7 68 1.6e-26 PFAM
Pfam:RNA_pol_Rpc82 146 344 7.6e-46 PFAM
Meta Mutation Damage Score 0.8131 question?
Coding Region Coverage
  • 1x: 97.4%
  • 3x: 96.8%
  • 10x: 95.1%
  • 20x: 92.0%
Validation Efficiency 98% (85/87)
Allele List at MGI
Other mutations in this stock
Total: 82 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aadacl4fm4 A G 4: 144,396,529 (GRCm39) V401A probably benign Het
Abca4 G A 3: 121,904,330 (GRCm39) V794M probably benign Het
Abca4 A T 3: 121,957,479 (GRCm39) T772S probably damaging Het
Acox3 G A 5: 35,765,683 (GRCm39) probably null Het
Adamts17 A G 7: 66,797,463 (GRCm39) N1060S probably damaging Het
Akap8l C T 17: 32,551,457 (GRCm39) R511H probably damaging Het
Als2 T C 1: 59,214,150 (GRCm39) Y1346C probably benign Het
Apol10b A T 15: 77,469,215 (GRCm39) F321I probably benign Het
Atp5pb A G 3: 105,858,905 (GRCm39) probably null Het
Bloc1s5 A G 13: 38,803,060 (GRCm39) probably benign Het
Btbd9 T C 17: 30,553,271 (GRCm39) N397S possibly damaging Het
Cacna1d A G 14: 29,821,153 (GRCm39) V1121A probably benign Het
Cad G A 5: 31,218,295 (GRCm39) V460I probably damaging Het
Caprin2 A T 6: 148,744,619 (GRCm39) D935E probably damaging Het
Ccdc150 A T 1: 54,393,795 (GRCm39) K686N probably benign Het
Ccnt2 T C 1: 127,727,143 (GRCm39) F186L possibly damaging Het
Cd5l G A 3: 87,275,187 (GRCm39) probably null Het
Chrna7 A G 7: 62,749,000 (GRCm39) V494A probably benign Het
Clec2i T G 6: 128,872,388 (GRCm39) Y198* probably null Het
Col22a1 A G 15: 71,879,025 (GRCm39) V44A probably damaging Het
Cspg4 T A 9: 56,794,263 (GRCm39) I666N probably damaging Het
Cyp3a16 A T 5: 145,401,841 (GRCm39) probably null Het
Dlk1 G T 12: 109,424,045 (GRCm39) C102F probably damaging Het
Dscc1 CTGAATGAAT CTGAAT 15: 54,943,572 (GRCm39) probably benign Het
Dscc1 T A 15: 54,947,535 (GRCm39) H215L probably damaging Het
Dus1l C G 11: 120,686,497 (GRCm39) G15R probably benign Het
Eps8l1 G T 7: 4,474,822 (GRCm39) V268L probably benign Het
F2 A C 2: 91,465,251 (GRCm39) C104W probably damaging Het
F5 C A 1: 164,020,104 (GRCm39) Q860K probably benign Het
Fmn2 T C 1: 174,329,832 (GRCm39) L74P unknown Het
Frmd6 G A 12: 70,940,396 (GRCm39) R347Q possibly damaging Het
Gabbr1 T G 17: 37,365,659 (GRCm39) S158A probably damaging Het
Galc T C 12: 98,200,525 (GRCm39) N295S probably damaging Het
Gm6408 A T 5: 146,419,132 (GRCm39) N49I probably damaging Het
Grm1 T A 10: 10,955,610 (GRCm39) T225S possibly damaging Het
Grm8 C T 6: 27,285,866 (GRCm39) V849I possibly damaging Het
Hmcn2 A G 2: 31,204,602 (GRCm39) D59G probably damaging Het
Iars1 G A 13: 49,876,553 (GRCm39) probably null Het
Ifi27l2a C T 12: 103,403,941 (GRCm39) A127V possibly damaging Het
Ikbip A G 10: 90,932,343 (GRCm39) N329S probably damaging Het
Ikbke T C 1: 131,193,614 (GRCm39) T479A probably benign Het
Krt12 T A 11: 99,306,886 (GRCm39) N472I probably damaging Het
Lmnb2 A T 10: 80,743,025 (GRCm39) L193Q probably damaging Het
Lrriq4 T C 3: 30,704,401 (GRCm39) V128A probably benign Het
Map4k4 C A 1: 40,039,917 (GRCm39) probably benign Het
Mtmr7 T C 8: 41,004,852 (GRCm39) T575A probably benign Het
Myh13 G A 11: 67,225,402 (GRCm39) A256T probably benign Het
Napepld A G 5: 21,888,408 (GRCm39) Y14H probably benign Het
Npr1 T C 3: 90,366,644 (GRCm39) T552A probably damaging Het
Nudt15 A G 14: 73,759,087 (GRCm39) F127S probably benign Het
Nwd2 T A 5: 63,965,614 (GRCm39) S1733T probably benign Het
Or11a4 T C 17: 37,536,321 (GRCm39) F102L probably benign Het
Or4c102 A G 2: 88,422,780 (GRCm39) I211V probably benign Het
Or4c10b G A 2: 89,711,473 (GRCm39) G101E probably damaging Het
Or6z1 T G 7: 6,504,440 (GRCm39) I262L probably benign Het
Or8b44 A G 9: 38,410,334 (GRCm39) Y123C probably damaging Het
Paqr7 A T 4: 134,234,409 (GRCm39) I89F probably benign Het
Pidd1 C A 7: 141,019,543 (GRCm39) V706L probably benign Het
Ppip5k1 A G 2: 121,179,028 (GRCm39) Y233H probably damaging Het
Psmc3 A G 2: 90,886,340 (GRCm39) T166A possibly damaging Het
Ptchd3 A T 11: 121,733,368 (GRCm39) I753L probably benign Het
Rad21 T C 15: 51,841,566 (GRCm39) K50R probably damaging Het
Rad54b A G 4: 11,604,989 (GRCm39) E479G possibly damaging Het
Rfwd3 C T 8: 112,014,874 (GRCm39) R326Q probably damaging Het
Rgs20 C T 1: 4,980,863 (GRCm39) R154Q probably damaging Het
Sbf1 T C 15: 89,178,628 (GRCm39) D1449G probably damaging Het
Sema4g C T 19: 44,990,044 (GRCm39) R708* probably null Het
Septin9 T C 11: 117,181,254 (GRCm39) I18T probably benign Het
Serpinb6b A G 13: 33,162,041 (GRCm39) E280G probably damaging Het
Slamf6 T C 1: 171,770,154 (GRCm39) probably benign Het
Slc6a21 G A 7: 44,937,158 (GRCm39) W554* probably null Het
Slco1a4 A C 6: 141,758,457 (GRCm39) I518R probably benign Het
Stab1 T A 14: 30,890,373 (GRCm39) Q26L probably benign Het
Stox1 A G 10: 62,503,744 (GRCm39) F104L probably damaging Het
Suco T C 1: 161,662,518 (GRCm39) K638E possibly damaging Het
Synpo T C 18: 60,735,856 (GRCm39) K458E probably damaging Het
Szt2 A T 4: 118,229,565 (GRCm39) W2820R unknown Het
Tmtc1 C A 6: 148,196,116 (GRCm39) G499W probably damaging Het
Tonsl A C 15: 76,522,266 (GRCm39) S242R probably damaging Het
Trpc4 G T 3: 54,102,243 (GRCm39) S47I possibly damaging Het
Zfp106 G A 2: 120,350,909 (GRCm39) R1581C probably benign Het
Zfp27 A G 7: 29,594,801 (GRCm39) L388P possibly damaging Het
Other mutations in Polr3c
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01734:Polr3c APN 3 96,620,836 (GRCm39) missense probably damaging 1.00
IGL01904:Polr3c APN 3 96,623,981 (GRCm39) critical splice donor site probably null
IGL01964:Polr3c APN 3 96,619,291 (GRCm39) unclassified probably benign
IGL02640:Polr3c APN 3 96,624,002 (GRCm39) missense probably damaging 0.98
IGL02955:Polr3c APN 3 96,621,628 (GRCm39) missense probably damaging 1.00
IGL03129:Polr3c APN 3 96,626,770 (GRCm39) splice site probably benign
IGL03263:Polr3c APN 3 96,621,567 (GRCm39) splice site probably benign
R0503:Polr3c UTSW 3 96,620,952 (GRCm39) splice site probably null
R0800:Polr3c UTSW 3 96,626,627 (GRCm39) missense probably damaging 0.99
R0881:Polr3c UTSW 3 96,631,163 (GRCm39) missense probably damaging 0.99
R1931:Polr3c UTSW 3 96,626,614 (GRCm39) missense probably damaging 1.00
R1932:Polr3c UTSW 3 96,626,614 (GRCm39) missense probably damaging 1.00
R1994:Polr3c UTSW 3 96,621,689 (GRCm39) splice site probably null
R3771:Polr3c UTSW 3 96,633,170 (GRCm39) missense probably damaging 1.00
R4116:Polr3c UTSW 3 96,622,560 (GRCm39) missense probably damaging 1.00
R4614:Polr3c UTSW 3 96,623,787 (GRCm39) missense probably benign 0.00
R4732:Polr3c UTSW 3 96,630,977 (GRCm39) missense probably damaging 1.00
R4733:Polr3c UTSW 3 96,630,977 (GRCm39) missense probably damaging 1.00
R5057:Polr3c UTSW 3 96,619,373 (GRCm39) missense probably damaging 0.98
R5058:Polr3c UTSW 3 96,630,833 (GRCm39) missense probably benign 0.01
R5756:Polr3c UTSW 3 96,621,450 (GRCm39) missense probably damaging 1.00
R6005:Polr3c UTSW 3 96,626,784 (GRCm39) missense possibly damaging 0.96
R6009:Polr3c UTSW 3 96,620,930 (GRCm39) missense probably damaging 1.00
R6580:Polr3c UTSW 3 96,634,659 (GRCm39) splice site probably null
R7003:Polr3c UTSW 3 96,630,954 (GRCm39) missense possibly damaging 0.94
R7475:Polr3c UTSW 3 96,622,501 (GRCm39) missense probably benign 0.11
R8065:Polr3c UTSW 3 96,622,968 (GRCm39) missense probably null 0.80
R8067:Polr3c UTSW 3 96,622,968 (GRCm39) missense probably null 0.80
R8478:Polr3c UTSW 3 96,624,066 (GRCm39) splice site probably benign
R8729:Polr3c UTSW 3 96,634,796 (GRCm39) unclassified probably benign
R8865:Polr3c UTSW 3 96,622,517 (GRCm39) unclassified probably benign
R9532:Polr3c UTSW 3 96,629,866 (GRCm39) missense probably null
Predicted Primers PCR Primer
(F):5'- TGAAAGGCAATGCTAAGTGCAGGTC -3'
(R):5'- CAGAGCCTGAGGGAAAACTTGCTAC -3'

Sequencing Primer
(F):5'- ACGTTGCGTTTCAGTGTCTC -3'
(R):5'- CCAGTCTAGTTGCACTGAGTCATAG -3'
Posted On 2014-05-23