Incidental Mutation 'R7304:Polb'
ID 567168
Institutional Source Beutler Lab
Gene Symbol Polb
Ensembl Gene ENSMUSG00000031536
Gene Name polymerase (DNA directed), beta
Synonyms A430088C08Rik, Pol beta
MMRRC Submission 045365-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R7304 (G1)
Quality Score 225.009
Status Validated
Chromosome 8
Chromosomal Location 23118142-23143451 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 23129975 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Serine at position 199 (N199S)
Ref Sequence ENSEMBL: ENSMUSP00000033938 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000033938] [ENSMUST00000210950]
AlphaFold Q8K409
Predicted Effect probably benign
Transcript: ENSMUST00000033938
AA Change: N199S

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000033938
Gene: ENSMUSG00000031536
AA Change: N199S

DomainStartEndE-ValueType
POLXc 10 334 4.58e-159 SMART
HhH1 57 76 1.91e-1 SMART
HhH1 98 117 1.14e1 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000210950
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 98.9%
Validation Efficiency 100% (66/66)
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 a DNA polymerase involved in base excision and repair, also called gap-filling DNA synthesis. The encoded protein, acting as a monomer, is normally found in the cytoplasm, but it translocates to the nucleus upon DNA damage. Several transcript variants of this gene exist, but the full-length nature of only one has been described to date. [provided by RefSeq, Sep 2011]
PHENOTYPE: Homozygotes for one knock-out allele die from E10.5 to birth and those for another one exhibit embryonic growth retardation, abnormal neurogenesis, and neonatal lethality due to respiratory failure. Hypomorphic allele mice develop systemic lupus erythematosus-like phentoypes. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 67 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca13 A G 11: 9,247,203 (GRCm39) S2317G probably benign Het
Acap2 A C 16: 30,926,934 (GRCm39) L502R probably benign Het
Amotl2 A G 9: 102,605,549 (GRCm39) E467G probably damaging Het
Apbb1ip A T 2: 22,743,147 (GRCm39) probably null Het
Armc9 C G 1: 86,090,437 (GRCm39) D77E probably benign Het
Art1 T A 7: 101,755,531 (GRCm39) S8T possibly damaging Het
Asic5 G A 3: 81,916,872 (GRCm39) A321T possibly damaging Het
Astn2 A G 4: 66,103,612 (GRCm39) I267T unknown Het
Bmp8a T C 4: 123,236,182 (GRCm39) N107S probably benign Het
Card14 T A 11: 119,228,573 (GRCm39) L633Q probably damaging Het
Chpf C T 1: 75,455,698 (GRCm39) V18M possibly damaging Het
Cog7 T C 7: 121,536,362 (GRCm39) I493V probably benign Het
Col3a1 A T 1: 45,386,971 (GRCm39) N1394I unknown Het
Crybg1 C T 10: 43,873,254 (GRCm39) D1285N probably benign Het
Depdc7 A G 2: 104,553,463 (GRCm39) V395A possibly damaging Het
Dido1 G A 2: 180,329,286 (GRCm39) L379F probably damaging Het
Dnajc13 G T 9: 104,115,713 (GRCm39) T32N probably benign Het
Dok2 T A 14: 71,013,468 (GRCm39) S133R probably benign Het
Ehbp1l1 C T 19: 5,766,410 (GRCm39) R1311H probably damaging Het
Gm3099 A T 14: 15,346,488 (GRCm39) N118I probably damaging Het
Gtse1 A G 15: 85,755,748 (GRCm39) T471A probably benign Het
Heg1 G A 16: 33,581,160 (GRCm39) A13T possibly damaging Het
Ifi209 A T 1: 173,470,156 (GRCm39) Y248F possibly damaging Het
Irag1 T C 7: 110,498,931 (GRCm39) T367A possibly damaging Het
Itgb3bp C G 4: 99,657,758 (GRCm39) E169Q probably damaging Het
Kcna2 A G 3: 107,012,066 (GRCm39) T216A probably benign Het
Kcnj6 A T 16: 94,742,042 (GRCm39) M10K probably benign Het
Krt17 T G 11: 100,148,163 (GRCm39) Q397P probably benign Het
Lrtm1 T A 14: 28,744,075 (GRCm39) M181K probably damaging Het
Map3k5 A G 10: 19,975,301 (GRCm39) H741R probably damaging Het
Mier1 T A 4: 102,996,599 (GRCm39) Y120* probably null Het
Myh14 T A 7: 44,279,415 (GRCm39) T922S probably benign Het
Nfkbie A T 17: 45,871,067 (GRCm39) I240F possibly damaging Het
Npas3 C A 12: 54,115,824 (GRCm39) H915Q probably damaging Het
Nrg2 A T 18: 36,178,994 (GRCm39) V314E probably benign Het
Or2z9 T A 8: 72,854,190 (GRCm39) Y195* probably null Het
Pds5a T C 5: 65,777,077 (GRCm39) N28S probably damaging Het
Pira1 T C 7: 3,740,493 (GRCm39) T243A probably damaging Het
Pkhd1l1 A T 15: 44,361,878 (GRCm39) N517I possibly damaging Het
Plekhb1 T C 7: 100,294,874 (GRCm39) Y99C probably benign Het
Plpp6 T C 19: 28,941,617 (GRCm39) S73P probably benign Het
Ppp1r13b T C 12: 111,838,840 (GRCm39) N13D possibly damaging Het
Prorp A G 12: 55,351,429 (GRCm39) D246G probably damaging Het
Ptprn2 T A 12: 117,212,164 (GRCm39) V862D probably damaging Het
Rassf4 T C 6: 116,617,278 (GRCm39) I242M probably damaging Het
Rnf19a G A 15: 36,254,598 (GRCm39) T320I probably damaging Het
Sctr A T 1: 119,949,970 (GRCm39) E53V probably damaging Het
Srcin1 T C 11: 97,442,519 (GRCm39) D103G probably benign Het
St3gal3 T C 4: 117,814,633 (GRCm39) Q220R Het
Stk40 G A 4: 126,019,483 (GRCm39) E86K probably benign Het
Tas2r104 T A 6: 131,662,005 (GRCm39) I235F possibly damaging Het
Terf2ip T C 8: 112,738,280 (GRCm39) V56A possibly damaging Het
Thsd7b A G 1: 130,030,890 (GRCm39) N1075S probably benign Het
Trak1 A G 9: 121,245,278 (GRCm39) Y51C probably benign Het
Trav16n T A 14: 53,588,859 (GRCm39) V45E probably benign Het
Ttc6 T C 12: 57,622,837 (GRCm39) S79P probably damaging Het
Unc79 C T 12: 103,029,449 (GRCm39) T484M probably damaging Het
Usp49 T C 17: 47,983,796 (GRCm39) V267A possibly damaging Het
Vldlr T A 19: 27,216,004 (GRCm39) D305E possibly damaging Het
Vmn1r226 G T 17: 20,908,011 (GRCm39) C81F probably damaging Het
Vmn1r73 T C 7: 11,490,824 (GRCm39) V214A probably damaging Het
Vmn2r5 T C 3: 64,411,671 (GRCm39) N299S probably damaging Het
Vwa3b T C 1: 37,203,586 (GRCm39) L55S probably damaging Het
Wdr90 T C 17: 26,070,480 (GRCm39) D1105G probably benign Het
Zbtb38 A G 9: 96,569,480 (GRCm39) S535P probably damaging Het
Zfp329 T C 7: 12,544,826 (GRCm39) I233V probably damaging Het
Zfp579 T A 7: 4,997,582 (GRCm39) T110S probably benign Het
Other mutations in Polb
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01455:Polb APN 8 23,143,088 (GRCm39) missense probably damaging 1.00
IGL02421:Polb APN 8 23,130,389 (GRCm39) missense probably damaging 1.00
IGL02618:Polb APN 8 23,127,109 (GRCm39) missense probably damaging 1.00
IGL02850:Polb APN 8 23,138,277 (GRCm39) splice site probably benign
IGL03143:Polb APN 8 23,130,367 (GRCm39) splice site probably benign
IGL02796:Polb UTSW 8 23,121,474 (GRCm39) missense probably damaging 1.00
R0280:Polb UTSW 8 23,130,408 (GRCm39) missense probably damaging 0.99
R0383:Polb UTSW 8 23,130,011 (GRCm39) nonsense probably null
R0788:Polb UTSW 8 23,132,354 (GRCm39) missense probably null
R1374:Polb UTSW 8 23,143,073 (GRCm39) splice site probably benign
R1564:Polb UTSW 8 23,120,357 (GRCm39) critical splice donor site probably null
R2194:Polb UTSW 8 23,137,483 (GRCm39) missense probably benign 0.05
R2295:Polb UTSW 8 23,143,335 (GRCm39) missense probably damaging 1.00
R2314:Polb UTSW 8 23,130,018 (GRCm39) missense possibly damaging 0.69
R4992:Polb UTSW 8 23,135,087 (GRCm39) missense probably damaging 0.97
R5107:Polb UTSW 8 23,135,062 (GRCm39) splice site probably null
R5474:Polb UTSW 8 23,120,386 (GRCm39) missense probably benign 0.13
R5905:Polb UTSW 8 23,130,011 (GRCm39) nonsense probably null
R5908:Polb UTSW 8 23,132,319 (GRCm39) critical splice donor site probably null
R6028:Polb UTSW 8 23,130,011 (GRCm39) nonsense probably null
R6188:Polb UTSW 8 23,137,463 (GRCm39) missense probably damaging 0.99
R7644:Polb UTSW 8 23,130,443 (GRCm39) missense probably benign 0.02
R7766:Polb UTSW 8 23,143,107 (GRCm39) missense probably benign 0.23
R8964:Polb UTSW 8 23,143,341 (GRCm39) missense probably damaging 0.96
R9249:Polb UTSW 8 23,143,084 (GRCm39) missense probably benign 0.10
R9681:Polb UTSW 8 23,118,346 (GRCm39) missense possibly damaging 0.94
Predicted Primers PCR Primer
(F):5'- AGCAGATGCCTCTCACAGAG -3'
(R):5'- GTCTCTGTCATTGCACCTGAG -3'

Sequencing Primer
(F):5'- ATAGCTTAGTGGTAAAGTCCCTGC -3'
(R):5'- CTCATTTGAGATACCAGTTACAGTG -3'
Posted On 2019-06-26