Incidental Mutation 'R6783:Polm'
ID 531523
Institutional Source Beutler Lab
Gene Symbol Polm
Ensembl Gene ENSMUSG00000020474
Gene Name polymerase (DNA directed), mu
Synonyms Tdt-N, B230309I03Rik
MMRRC Submission 044897-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6783 (G1)
Quality Score 154.008
Status Validated
Chromosome 11
Chromosomal Location 5777860-5788016 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 5785534 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Leucine at position 175 (R175L)
Ref Sequence ENSEMBL: ENSMUSP00000105463 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000020767] [ENSMUST00000109837]
AlphaFold Q9JIW4
Predicted Effect probably damaging
Transcript: ENSMUST00000020767
AA Change: R175L

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000020767
Gene: ENSMUSG00000020474
AA Change: R175L

DomainStartEndE-ValueType
low complexity region 12 26 N/A INTRINSIC
PDB:2HTF|A 27 124 2e-42 PDB
POLXc 150 495 1.78e-115 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000109837
AA Change: R175L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000105463
Gene: ENSMUSG00000020474
AA Change: R175L

DomainStartEndE-ValueType
low complexity region 12 26 N/A INTRINSIC
Blast:BRCT 27 112 1e-45 BLAST
PDB:2HTF|A 27 124 4e-42 PDB
POLXc 150 500 8.68e-78 SMART
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 98.4%
  • 20x: 95.8%
Validation Efficiency 95% (42/44)
MGI Phenotype PHENOTYPE: Mice homozygous for disruptions in this gene display an apparently normal phenotype. However, B cell maturation and proliferation is abnormal. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam12 T A 7: 133,576,126 (GRCm39) Q228L probably damaging Het
Arhgap45 A G 10: 79,853,698 (GRCm39) T71A possibly damaging Het
Bag6 T A 17: 35,363,211 (GRCm39) S684T possibly damaging Het
Bcam C T 7: 19,500,806 (GRCm39) G123R probably damaging Het
Cdcp3 T C 7: 130,828,493 (GRCm39) L316P probably damaging Het
Cdr2l C T 11: 115,284,495 (GRCm39) A277V possibly damaging Het
Clcn4 T A 7: 7,302,181 (GRCm39) probably benign Het
Csnk1g1 T A 9: 65,880,794 (GRCm39) I72N probably damaging Het
Cspg4b A T 13: 113,456,743 (GRCm39) K930* probably null Het
Ddx31 G A 2: 28,764,188 (GRCm39) V465I probably benign Het
Ddx54 C T 5: 120,756,779 (GRCm39) Q163* probably null Het
Dnmt3a A G 12: 3,947,406 (GRCm39) E459G probably damaging Het
Dpp8 T C 9: 64,970,844 (GRCm39) S568P possibly damaging Het
Drap1 G T 19: 5,474,219 (GRCm39) T47K probably damaging Het
Epha7 G T 4: 28,950,528 (GRCm39) R777L possibly damaging Het
Far2 T G 6: 148,052,273 (GRCm39) probably null Het
Fhdc1 T C 3: 84,352,834 (GRCm39) K797R probably benign Het
Gm10330 A T 12: 23,830,094 (GRCm39) M29K probably damaging Het
Grik3 A T 4: 125,526,093 (GRCm39) I109F probably benign Het
Il31ra T C 13: 112,688,522 (GRCm39) probably null Het
Itga1 T G 13: 115,133,513 (GRCm39) I466L probably benign Het
Itpr2 A T 6: 146,287,371 (GRCm39) probably null Het
Mical3 A C 6: 120,935,786 (GRCm39) L1580R possibly damaging Het
Or14c43 T A 7: 86,114,835 (GRCm39) V72D probably damaging Het
Or4n4 T C 14: 50,519,644 (GRCm39) D22G probably benign Het
Palb2 T A 7: 121,726,711 (GRCm39) E386D probably damaging Het
Pate8 T A 9: 36,492,631 (GRCm39) probably null Het
Prpf40b C T 15: 99,212,784 (GRCm39) R627W probably damaging Het
Ptcd3 A T 6: 71,885,627 (GRCm39) V33D probably benign Het
Pwwp4c C T X: 73,684,021 (GRCm39) R355H probably damaging Homo
Ripk4 C A 16: 97,549,237 (GRCm39) R273L probably damaging Het
Rpap2 A G 5: 107,803,153 (GRCm39) T612A probably damaging Het
Serpinb10 A G 1: 107,474,597 (GRCm39) N253S possibly damaging Het
Sgpp1 G C 12: 75,782,243 (GRCm39) P32R probably benign Het
Sim1 T C 10: 50,784,823 (GRCm39) I156T possibly damaging Het
Ski A T 4: 155,245,289 (GRCm39) probably null Het
Spaca7b G A 8: 11,705,661 (GRCm39) Q39* probably null Het
Tent2 G A 13: 93,291,526 (GRCm39) A368V probably benign Het
Tent2 C G 13: 93,291,527 (GRCm39) A372P probably benign Het
Trdn C T 10: 33,314,811 (GRCm39) R512C probably damaging Het
Trim33 T C 3: 103,259,403 (GRCm39) Y1031H probably damaging Het
Use1 T C 8: 71,821,880 (GRCm39) L188P probably damaging Het
Usp34 G A 11: 23,362,318 (GRCm39) G1588D probably damaging Het
Vmn2r33 C A 7: 7,566,797 (GRCm39) R105L probably benign Het
Vmn2r53 G A 7: 12,335,360 (GRCm39) S100F probably damaging Het
Other mutations in Polm
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02184:Polm APN 11 5,780,137 (GRCm39) missense probably benign 0.00
gott UTSW 11 5,779,512 (GRCm39) missense possibly damaging 0.46
lobet UTSW 11 5,779,491 (GRCm39) missense probably damaging 1.00
IGL02988:Polm UTSW 11 5,786,343 (GRCm39) missense probably benign 0.02
R0626:Polm UTSW 11 5,786,207 (GRCm39) missense probably damaging 0.97
R0736:Polm UTSW 11 5,785,495 (GRCm39) missense possibly damaging 0.94
R1723:Polm UTSW 11 5,784,776 (GRCm39) missense probably benign 0.04
R1893:Polm UTSW 11 5,785,574 (GRCm39) missense possibly damaging 0.65
R2473:Polm UTSW 11 5,779,881 (GRCm39) missense possibly damaging 0.94
R3812:Polm UTSW 11 5,779,512 (GRCm39) missense possibly damaging 0.46
R4676:Polm UTSW 11 5,785,749 (GRCm39) nonsense probably null
R4705:Polm UTSW 11 5,787,663 (GRCm39) missense possibly damaging 0.66
R4988:Polm UTSW 11 5,787,618 (GRCm39) missense probably damaging 0.98
R5276:Polm UTSW 11 5,779,393 (GRCm39) missense probably benign 0.16
R6401:Polm UTSW 11 5,779,491 (GRCm39) missense probably damaging 1.00
R7876:Polm UTSW 11 5,781,695 (GRCm39) missense probably benign 0.00
R7961:Polm UTSW 11 5,780,155 (GRCm39) missense possibly damaging 0.50
R8151:Polm UTSW 11 5,787,906 (GRCm39) unclassified probably benign
R8184:Polm UTSW 11 5,781,707 (GRCm39) missense possibly damaging 0.94
R9108:Polm UTSW 11 5,779,872 (GRCm39) missense probably benign 0.00
R9283:Polm UTSW 11 5,779,050 (GRCm39) missense probably damaging 0.99
R9430:Polm UTSW 11 5,784,749 (GRCm39) missense probably damaging 0.98
R9570:Polm UTSW 11 5,779,713 (GRCm39) missense probably damaging 1.00
R9651:Polm UTSW 11 5,781,732 (GRCm39) missense probably damaging 1.00
X0018:Polm UTSW 11 5,780,158 (GRCm39) missense possibly damaging 0.79
Predicted Primers PCR Primer
(F):5'- GCACACCCATATTGTCAGACTG -3'
(R):5'- AACACTCTCCTCTCAGTAAGCTG -3'

Sequencing Primer
(F):5'- CATATTGTCAGACTGGGCTCTGAAC -3'
(R):5'- GCAAGGTACCTTATCCCA -3'
Posted On 2018-08-29