Incidental Mutation 'R8964:Polb'
ID 682609
Institutional Source Beutler Lab
Gene Symbol Polb
Ensembl Gene ENSMUSG00000031536
Gene Name polymerase (DNA directed), beta
Synonyms A430088C08Rik, Pol beta
MMRRC Submission 068798-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R8964 (G1)
Quality Score 114.008
Status Validated
Chromosome 8
Chromosomal Location 23118142-23143451 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 23143341 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 17 (D17G)
Ref Sequence ENSEMBL: ENSMUSP00000033938 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000033938] [ENSMUST00000210950]
AlphaFold Q8K409
Predicted Effect probably damaging
Transcript: ENSMUST00000033938
AA Change: D17G

PolyPhen 2 Score 0.962 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000033938
Gene: ENSMUSG00000031536
AA Change: D17G

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 damaging
Transcript: ENSMUST00000210950
AA Change: D17G

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.5%
  • 20x: 98.2%
Validation Efficiency 100% (80/80)
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: 81 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933402N03Rik C T 7: 130,740,716 (GRCm39) V167M probably benign Het
Abca6 G A 11: 110,139,363 (GRCm39) P37L probably benign Het
Abca9 A T 11: 110,038,075 (GRCm39) Y490* probably null Het
Abcb11 A G 2: 69,117,061 (GRCm39) V529A possibly damaging Het
Acox2 G T 14: 8,243,768 (GRCm38) Y529* probably null Het
Acte1 A G 7: 143,423,030 (GRCm39) T39A probably benign Het
Adck2 G T 6: 39,551,083 (GRCm39) probably benign Het
Agxt T A 1: 93,072,869 (GRCm39) C409S possibly damaging Het
Ahsa1 T A 12: 87,318,131 (GRCm39) I164N probably damaging Het
Arhgef1 A G 7: 24,622,462 (GRCm39) E647G probably damaging Het
Axin1 T G 17: 26,361,718 (GRCm39) F21V probably damaging Het
B3galnt1 A G 3: 69,482,589 (GRCm39) I224T probably damaging Het
Bche T C 3: 73,608,406 (GRCm39) K340R probably benign Het
Bpifb5 T A 2: 154,072,198 (GRCm39) W302R possibly damaging Het
Cd72 G A 4: 43,450,218 (GRCm39) T230I probably damaging Het
Cdc42ep4 T A 11: 113,620,278 (GRCm39) M38L probably damaging Het
Cdcp1 G A 9: 123,012,561 (GRCm39) Q329* probably null Het
Clps C A 17: 28,777,730 (GRCm39) probably benign Het
Cluap1 A G 16: 3,729,334 (GRCm39) probably benign Het
CN725425 C T 15: 91,119,972 (GRCm39) S31L possibly damaging Het
Cnbp T C 6: 87,821,086 (GRCm39) N158D probably benign Het
Crebbp A G 16: 3,909,753 (GRCm39) F1545S probably damaging Het
Cyp39a1 A T 17: 44,002,558 (GRCm39) T258S probably benign Het
Dclk2 T C 3: 86,743,698 (GRCm39) D257G probably damaging Het
Dock7 A T 4: 98,949,476 (GRCm39) D455E Het
Ehbp1 G A 11: 22,101,154 (GRCm39) Q259* probably null Het
Eif3a A T 19: 60,751,630 (GRCm39) D1228E unknown Het
Has2 A T 15: 56,531,061 (GRCm39) D551E probably damaging Het
Herc1 T A 9: 66,352,872 (GRCm39) N2119K probably damaging Het
Hsdl1 C T 8: 120,292,899 (GRCm39) A179T probably benign Het
Htt T A 5: 35,062,720 (GRCm39) M2818K probably benign Het
Il18bp A G 7: 101,665,591 (GRCm39) S80P possibly damaging Het
Ints10 A G 8: 69,264,631 (GRCm39) M455V probably benign Het
Ipcef1 T C 10: 6,869,789 (GRCm39) T255A possibly damaging Het
Krt1 AAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCAC AAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCAC 15: 101,758,813 (GRCm39) probably benign Het
Lrba T A 3: 86,258,552 (GRCm39) D1346E probably benign Het
Mdm1 T A 10: 118,002,585 (GRCm39) D635E probably damaging Het
Met C T 6: 17,527,144 (GRCm39) P532S probably damaging Het
Nlrc5 T A 8: 95,232,116 (GRCm39) M1314K possibly damaging Het
Notch1 A T 2: 26,371,062 (GRCm39) S341R possibly damaging Het
Nr3c2 T G 8: 77,881,941 (GRCm39) L670V probably damaging Het
Nuak1 C T 10: 84,210,734 (GRCm39) M451I probably benign Het
Nubp1 G A 16: 10,238,894 (GRCm39) V170I probably benign Het
Or5v1 G A 17: 37,809,664 (GRCm39) G41S probably damaging Het
Or9g8 T A 2: 85,606,964 (GRCm39) I12N probably damaging Het
Pamr1 T C 2: 102,464,811 (GRCm39) V320A possibly damaging Het
Pcdhb11 T A 18: 37,556,660 (GRCm39) N663K probably benign Het
Pcnx1 G A 12: 82,039,812 (GRCm39) G1400D Het
Pdxk A T 10: 78,283,771 (GRCm39) V141E probably benign Het
Pex5 A T 6: 124,375,740 (GRCm39) N520K probably benign Het
Pklr T C 3: 89,050,036 (GRCm39) V337A probably benign Het
Ppp1r9b T C 11: 94,882,705 (GRCm39) L111P probably damaging Het
Prl3d1 A G 13: 27,283,926 (GRCm39) E165G possibly damaging Het
Prpf40a A G 2: 53,035,906 (GRCm39) F657S probably damaging Het
Ptgs2 C T 1: 149,980,798 (GRCm39) R455C probably damaging Het
Pzp T A 6: 128,464,462 (GRCm39) D1355V probably benign Het
Rasl12 T A 9: 65,314,913 (GRCm39) V72D probably damaging Het
Rfx2 C A 17: 57,093,696 (GRCm39) R266L probably damaging Het
Rnaseh2a T C 8: 85,686,434 (GRCm39) D204G probably benign Het
S1pr3 A C 13: 51,573,248 (GRCm39) K143T probably damaging Het
Sdr39u1 C A 14: 56,135,170 (GRCm39) A258S possibly damaging Het
Sntb2 T A 8: 107,707,808 (GRCm39) S191T possibly damaging Het
Sod3 T A 5: 52,525,696 (GRCm39) F132I probably damaging Het
Sorcs2 C T 5: 36,386,511 (GRCm39) V176I possibly damaging Het
Syne1 T C 10: 5,060,872 (GRCm39) I7256V Het
Tbc1d22b A G 17: 29,819,202 (GRCm39) E459G probably damaging Het
Tbkbp1 A G 11: 97,037,169 (GRCm39) S278P probably damaging Het
Thoc5 A T 11: 4,860,647 (GRCm39) E245D possibly damaging Het
Tmc7 G A 7: 118,160,228 (GRCm39) P203L probably benign Het
Tns2 T C 15: 102,011,553 (GRCm39) L11P possibly damaging Het
Trip11 A G 12: 101,811,315 (GRCm39) probably null Het
Ttn T G 2: 76,551,309 (GRCm39) Y31361S probably damaging Het
Vars2 T C 17: 35,970,699 (GRCm39) E678G possibly damaging Het
Vav1 C A 17: 57,606,122 (GRCm39) H249N probably benign Het
Vmn2r9 T A 5: 108,996,031 (GRCm39) I206L probably benign Het
Vps4a T C 8: 107,771,686 (GRCm39) S410P probably damaging Het
Wdr82 T C 9: 106,053,861 (GRCm39) Y71H possibly damaging Het
Zfand1 A G 3: 10,413,631 (GRCm39) Y19H probably benign Het
Zfp365 A T 10: 67,745,088 (GRCm39) I230N probably damaging Het
Zfp763 T C 17: 33,240,710 (GRCm39) T40A probably benign Het
Zfp788 A T 7: 41,297,003 (GRCm39) D51V probably damaging 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
R7304:Polb UTSW 8 23,129,975 (GRCm39) missense probably benign
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
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'- GCTCGAGGACACAAGTACAC -3'
(R):5'- TCTCTCAGGCTAACTCACCAG -3'

Sequencing Primer
(F):5'- TCGAGGACACAAGTACACACACC -3'
(R):5'- GGTAAACCTGACCTCCTAGCTC -3'
Posted On 2021-10-11