Incidental Mutation 'R9267:Polr1a'
ID 702609
Institutional Source Beutler Lab
Gene Symbol Polr1a
Ensembl Gene ENSMUSG00000049553
Gene Name polymerase (RNA) I polypeptide A
Synonyms 2900087K15Rik, 3010014K16Rik, 194kDa, mRPA1, Rpo1-4, RPA194
MMRRC Submission
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R9267 (G1)
Quality Score 225.009
Status Validated
Chromosome 6
Chromosomal Location 71886037-71956419 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 71942542 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Isoleucine at position 1127 (M1127I)
Ref Sequence ENSEMBL: ENSMUSP00000060858 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000055296]
AlphaFold O35134
Predicted Effect probably benign
Transcript: ENSMUST00000055296
AA Change: M1127I

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000060858
Gene: ENSMUSG00000049553
AA Change: M1127I

DomainStartEndE-ValueType
RPOLA_N 302 649 8.97e-137 SMART
Pfam:RNA_pol_Rpb1_4 846 958 1.3e-26 PFAM
Pfam:RNA_pol_Rpb1_5 965 1669 7e-103 PFAM
low complexity region 1698 1708 N/A INTRINSIC
Predicted Effect
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.7%
Validation Efficiency 98% (79/81)
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 largest subunit of the RNA polymerase I complex. The encoded protein represents the catalytic subunit of the complex, which transcribes DNA into ribosomal RNA precursors. Defects in this gene are a cause of the Cincinnati type of acrofacial dysostosis. [provided by RefSeq, May 2016]
Allele List at MGI

All alleles(18) : Gene trapped(18)

Other mutations in this stock
Total: 83 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc4 G T 14: 118,869,657 (GRCm39) probably benign Het
Abcd2 T A 15: 91,063,423 (GRCm39) T422S possibly damaging Het
Acsl3 T G 1: 78,674,623 (GRCm39) I390S probably damaging Het
Adad1 T A 3: 37,139,074 (GRCm39) probably benign Het
Adam3 A G 8: 25,171,605 (GRCm39) V742A probably benign Het
Adgra3 A T 5: 50,155,618 (GRCm39) I450K possibly damaging Het
Adgrb2 T C 4: 129,885,901 (GRCm39) S14P possibly damaging Het
Arfgef3 T A 10: 18,475,028 (GRCm39) I1553F probably damaging Het
Btbd16 C T 7: 130,417,516 (GRCm39) R344C probably damaging Het
Ccdc27 A G 4: 154,117,441 (GRCm39) L502P probably damaging Het
Ccdc50 T A 16: 27,208,700 (GRCm39) L5Q Het
Cdh16 C T 8: 105,341,834 (GRCm39) G777D probably damaging Het
Cntn2 C A 1: 132,449,021 (GRCm39) V663L probably benign Het
Cpne4 T A 9: 104,884,833 (GRCm39) V343E probably damaging Het
Dctpp1 A T 7: 126,856,275 (GRCm39) I149N probably benign Het
Dlg5 T C 14: 24,204,745 (GRCm39) N1266S probably damaging Het
Dst A G 1: 34,232,145 (GRCm39) D3246G probably benign Het
Efcab8 G C 2: 153,646,861 (GRCm39) V397L unknown Het
Erbin T C 13: 103,987,292 (GRCm39) T423A probably damaging Het
Erich5 C T 15: 34,471,563 (GRCm39) P264L possibly damaging Het
Fam90a1a A G 8: 22,453,091 (GRCm39) M149V probably benign Het
Fbxl18 C T 5: 142,880,870 (GRCm39) G62R possibly damaging Het
Fech A G 18: 64,591,267 (GRCm39) S386P possibly damaging Het
Fhl3 T A 4: 124,601,498 (GRCm39) probably null Het
Fkbp5 A G 17: 28,629,558 (GRCm39) S256P probably benign Het
Frem2 A G 3: 53,564,504 (GRCm39) M1T probably null Het
Galnt5 T C 2: 57,925,220 (GRCm39) F834L possibly damaging Het
Gm3618 G T 14: 17,502,588 (GRCm39) T99N unknown Het
Gm9195 T A 14: 72,700,546 (GRCm39) Q1127L possibly damaging Het
Gpsm1 A G 2: 26,236,835 (GRCm39) D643G probably damaging Het
Grm4 A G 17: 27,654,183 (GRCm39) V589A possibly damaging Het
Gskip T A 12: 105,665,052 (GRCm39) F30L probably benign Het
Haus3 T A 5: 34,311,452 (GRCm39) probably null Het
Heatr1 T C 13: 12,421,489 (GRCm39) F463S probably damaging Het
Hmcn1 G A 1: 150,473,740 (GRCm39) S4851F probably benign Het
Il16 A C 7: 83,371,757 (GRCm39) F16L probably benign Het
Itga1 C A 13: 115,185,924 (GRCm39) C26F possibly damaging Het
Itga6 A G 2: 71,668,756 (GRCm39) E565G probably benign Het
Itgb4 A G 11: 115,870,465 (GRCm39) H98R probably benign Het
Kidins220 T A 12: 25,038,558 (GRCm39) S37T probably benign Het
Lrrc37 A T 11: 103,495,406 (GRCm39) D2804E unknown Het
Lrrk2 C T 15: 91,584,629 (GRCm39) L349F probably damaging Het
Malrd1 T G 2: 16,260,077 (GRCm39) I2099S unknown Het
Mapk8ip1 A G 2: 92,216,714 (GRCm39) I492T possibly damaging Het
Mest T A 6: 30,742,141 (GRCm39) D68E Het
Mthfd1l A G 10: 3,934,154 (GRCm39) D162G probably benign Het
Nalcn A T 14: 123,518,567 (GRCm39) D1657E probably benign Het
Nbeal2 C A 9: 110,462,115 (GRCm39) V1475F probably damaging Het
Nf1 C A 11: 79,331,716 (GRCm39) Q684K possibly damaging Het
Opn5 T A 17: 42,903,793 (GRCm39) T181S probably damaging Het
Or10ag54 T C 2: 87,099,326 (GRCm39) L67P possibly damaging Het
Or1j19 A T 2: 36,676,530 (GRCm39) probably benign Het
Or7a38 A G 10: 78,752,803 (GRCm39) N43S probably damaging Het
Or9s15 A T 1: 92,524,994 (GRCm39) H251L probably damaging Het
Or9s15 A T 1: 92,524,996 (GRCm39) M252L probably benign Het
Orc4 T A 2: 48,827,534 (GRCm39) R20* probably null Het
Pik3ca T C 3: 32,492,211 (GRCm39) Y270H probably damaging Het
Pkn2 T C 3: 142,517,676 (GRCm39) E474G probably null Het
Pnma8b A T 7: 16,679,159 (GRCm39) N48Y unknown Het
Pnpla2 A C 7: 141,036,503 (GRCm39) probably benign Het
Ptpre A C 7: 135,274,549 (GRCm39) D507A probably damaging Het
Rab3gap2 T C 1: 184,983,331 (GRCm39) V490A probably damaging Het
Rab44 A T 17: 29,354,338 (GRCm39) probably benign Het
Rchy1 G T 5: 92,105,831 (GRCm39) T39N probably benign Het
Ripor1 A G 8: 106,348,063 (GRCm39) D1146G unknown Het
Sh3yl1 A T 12: 30,972,335 (GRCm39) I35F possibly damaging Het
Slc22a5 A G 11: 53,764,619 (GRCm39) F276L probably benign Het
Slc8a3 T A 12: 81,361,208 (GRCm39) D537V possibly damaging Het
Smc4 T A 3: 68,941,786 (GRCm39) I1263N probably damaging Het
Snai2 A T 16: 14,525,120 (GRCm39) T209S possibly damaging Het
Stam2 A T 2: 52,604,903 (GRCm39) Y211N probably damaging Het
Stxbp1 A G 2: 32,708,517 (GRCm39) S83P probably damaging Het
Susd4 T C 1: 182,716,389 (GRCm39) F325L probably benign Het
Tmem245 A G 4: 56,947,236 (GRCm39) V59A probably benign Het
Tnk2 A G 16: 32,494,489 (GRCm39) D469G probably damaging Het
Tpx2 A G 2: 152,732,517 (GRCm39) D597G probably damaging Het
Ube2w A T 1: 16,612,011 (GRCm39) S170R Het
Vmn2r102 A T 17: 19,896,928 (GRCm39) I92F probably damaging Het
Vmn2r11 T A 5: 109,199,929 (GRCm39) E508V possibly damaging Het
Vmn2r30 T A 7: 7,340,432 (GRCm39) I21F possibly damaging Het
Yipf2 G A 9: 21,501,489 (GRCm39) T187M possibly damaging Het
Zbtb8a T A 4: 129,248,267 (GRCm39) K335* probably null Het
Zfp609 T C 9: 65,608,328 (GRCm39) D1184G possibly damaging Het
Other mutations in Polr1a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01363:Polr1a APN 6 71,925,470 (GRCm39) missense probably benign 0.32
IGL01834:Polr1a APN 6 71,925,446 (GRCm39) missense probably benign
IGL01902:Polr1a APN 6 71,940,732 (GRCm39) missense probably damaging 1.00
IGL02101:Polr1a APN 6 71,927,786 (GRCm39) missense probably benign 0.00
IGL02325:Polr1a APN 6 71,897,641 (GRCm39) missense probably benign 0.38
IGL02398:Polr1a APN 6 71,913,540 (GRCm39) splice site probably benign
IGL02528:Polr1a APN 6 71,941,701 (GRCm39) missense probably benign
IGL02555:Polr1a APN 6 71,897,441 (GRCm39) missense probably damaging 0.98
IGL02613:Polr1a APN 6 71,944,304 (GRCm39) missense probably damaging 1.00
IGL02693:Polr1a APN 6 71,940,830 (GRCm39) splice site probably benign
IGL02892:Polr1a APN 6 71,908,680 (GRCm39) missense possibly damaging 0.70
IGL03059:Polr1a APN 6 71,913,496 (GRCm39) missense probably benign
IGL03174:Polr1a APN 6 71,954,331 (GRCm39) missense possibly damaging 0.82
D4043:Polr1a UTSW 6 71,918,401 (GRCm39) missense possibly damaging 0.92
R0092:Polr1a UTSW 6 71,944,439 (GRCm39) splice site probably benign
R0217:Polr1a UTSW 6 71,940,687 (GRCm39) missense probably benign 0.19
R0267:Polr1a UTSW 6 71,951,123 (GRCm39) missense probably damaging 0.99
R0329:Polr1a UTSW 6 71,943,400 (GRCm39) missense possibly damaging 0.96
R0330:Polr1a UTSW 6 71,943,400 (GRCm39) missense possibly damaging 0.96
R0352:Polr1a UTSW 6 71,897,747 (GRCm39) splice site probably benign
R0411:Polr1a UTSW 6 71,955,405 (GRCm39) missense possibly damaging 0.95
R0446:Polr1a UTSW 6 71,927,648 (GRCm39) critical splice donor site probably null
R0846:Polr1a UTSW 6 71,901,627 (GRCm39) missense probably damaging 1.00
R1035:Polr1a UTSW 6 71,944,900 (GRCm39) missense probably benign
R1294:Polr1a UTSW 6 71,889,886 (GRCm39) missense probably damaging 0.99
R1460:Polr1a UTSW 6 71,918,368 (GRCm39) missense probably damaging 0.99
R1657:Polr1a UTSW 6 71,918,519 (GRCm39) missense probably damaging 1.00
R1846:Polr1a UTSW 6 71,953,172 (GRCm39) missense probably damaging 0.98
R1862:Polr1a UTSW 6 71,886,187 (GRCm39) missense probably damaging 0.96
R1865:Polr1a UTSW 6 71,943,508 (GRCm39) missense probably damaging 1.00
R1903:Polr1a UTSW 6 71,944,898 (GRCm39) missense probably benign 0.02
R1937:Polr1a UTSW 6 71,913,536 (GRCm39) critical splice donor site probably null
R2063:Polr1a UTSW 6 71,913,269 (GRCm39) splice site probably null
R2071:Polr1a UTSW 6 71,953,058 (GRCm39) missense possibly damaging 0.64
R2084:Polr1a UTSW 6 71,927,793 (GRCm39) missense possibly damaging 0.69
R2377:Polr1a UTSW 6 71,949,810 (GRCm39) critical splice donor site probably null
R2410:Polr1a UTSW 6 71,951,866 (GRCm39) missense probably benign
R3001:Polr1a UTSW 6 71,890,000 (GRCm39) missense probably benign 0.01
R3001:Polr1a UTSW 6 71,942,628 (GRCm39) missense probably benign 0.02
R3002:Polr1a UTSW 6 71,942,628 (GRCm39) missense probably benign 0.02
R3002:Polr1a UTSW 6 71,890,000 (GRCm39) missense probably benign 0.01
R3924:Polr1a UTSW 6 71,906,434 (GRCm39) missense probably benign 0.00
R4105:Polr1a UTSW 6 71,953,175 (GRCm39) missense probably damaging 0.98
R4125:Polr1a UTSW 6 71,942,690 (GRCm39) missense probably benign 0.00
R4271:Polr1a UTSW 6 71,930,006 (GRCm39) missense probably benign 0.02
R4440:Polr1a UTSW 6 71,927,832 (GRCm39) missense probably damaging 0.98
R4667:Polr1a UTSW 6 71,894,805 (GRCm39) missense probably benign 0.30
R4769:Polr1a UTSW 6 71,927,852 (GRCm39) missense probably benign 0.01
R4801:Polr1a UTSW 6 71,953,054 (GRCm39) missense probably benign 0.00
R4802:Polr1a UTSW 6 71,953,054 (GRCm39) missense probably benign 0.00
R4828:Polr1a UTSW 6 71,943,385 (GRCm39) missense possibly damaging 0.93
R4911:Polr1a UTSW 6 71,886,213 (GRCm39) missense possibly damaging 0.67
R5071:Polr1a UTSW 6 71,908,693 (GRCm39) missense possibly damaging 0.71
R5165:Polr1a UTSW 6 71,944,909 (GRCm39) missense probably damaging 1.00
R5223:Polr1a UTSW 6 71,944,891 (GRCm39) missense possibly damaging 0.73
R5239:Polr1a UTSW 6 71,890,021 (GRCm39) missense probably damaging 1.00
R5546:Polr1a UTSW 6 71,906,350 (GRCm39) missense possibly damaging 0.64
R5599:Polr1a UTSW 6 71,944,346 (GRCm39) missense possibly damaging 0.95
R5696:Polr1a UTSW 6 71,906,410 (GRCm39) missense probably benign 0.05
R5850:Polr1a UTSW 6 71,903,667 (GRCm39) missense probably benign 0.00
R6274:Polr1a UTSW 6 71,931,874 (GRCm39) splice site probably null
R6526:Polr1a UTSW 6 71,906,427 (GRCm39) missense possibly damaging 0.89
R6578:Polr1a UTSW 6 71,953,025 (GRCm39) missense possibly damaging 0.93
R6660:Polr1a UTSW 6 71,944,358 (GRCm39) missense probably damaging 0.98
R6892:Polr1a UTSW 6 71,941,696 (GRCm39) missense possibly damaging 0.72
R7274:Polr1a UTSW 6 71,897,500 (GRCm39) nonsense probably null
R7291:Polr1a UTSW 6 71,918,440 (GRCm39) missense probably benign 0.02
R7311:Polr1a UTSW 6 71,927,863 (GRCm39) missense possibly damaging 0.53
R7431:Polr1a UTSW 6 71,903,643 (GRCm39) missense probably benign 0.14
R7479:Polr1a UTSW 6 71,913,281 (GRCm39) missense probably damaging 1.00
R7607:Polr1a UTSW 6 71,890,005 (GRCm39) missense probably benign
R7739:Polr1a UTSW 6 71,931,819 (GRCm39) missense possibly damaging 0.94
R7746:Polr1a UTSW 6 71,918,496 (GRCm39) missense probably damaging 1.00
R7764:Polr1a UTSW 6 71,930,054 (GRCm39) missense probably damaging 1.00
R7835:Polr1a UTSW 6 71,892,126 (GRCm39) missense probably benign 0.02
R8029:Polr1a UTSW 6 71,889,940 (GRCm39) nonsense probably null
R8057:Polr1a UTSW 6 71,908,644 (GRCm39) missense possibly damaging 0.95
R8144:Polr1a UTSW 6 71,927,600 (GRCm39) missense probably benign
R8170:Polr1a UTSW 6 71,897,733 (GRCm39) missense probably benign
R8320:Polr1a UTSW 6 71,918,368 (GRCm39) missense probably damaging 0.99
R8328:Polr1a UTSW 6 71,897,718 (GRCm39) missense probably benign
R8331:Polr1a UTSW 6 71,953,163 (GRCm39) missense probably damaging 1.00
R8362:Polr1a UTSW 6 71,941,651 (GRCm39) missense probably benign 0.00
R8511:Polr1a UTSW 6 71,897,504 (GRCm39) missense probably benign 0.01
R8709:Polr1a UTSW 6 71,951,832 (GRCm39) missense probably benign
R8745:Polr1a UTSW 6 71,931,755 (GRCm39) missense probably damaging 1.00
R8784:Polr1a UTSW 6 71,927,612 (GRCm39) missense probably benign
R9055:Polr1a UTSW 6 71,892,053 (GRCm39) missense possibly damaging 0.46
R9088:Polr1a UTSW 6 71,908,767 (GRCm39) missense probably benign 0.26
R9211:Polr1a UTSW 6 71,943,521 (GRCm39) missense probably damaging 1.00
R9228:Polr1a UTSW 6 71,931,755 (GRCm39) missense probably damaging 1.00
R9240:Polr1a UTSW 6 71,940,661 (GRCm39) nonsense probably null
R9302:Polr1a UTSW 6 71,901,683 (GRCm39) critical splice donor site probably null
R9744:Polr1a UTSW 6 71,906,372 (GRCm39) missense probably benign 0.05
Predicted Primers PCR Primer
(F):5'- TGCTATGCTTTGGACAGGCC -3'
(R):5'- CTGCCCATTCCTGACTGAAG -3'

Sequencing Primer
(F):5'- CAGGCCAAGGTGAATTGCC -3'
(R):5'- GCAAAGTAGATGTCTGGG -3'
Posted On 2022-03-25