Incidental Mutation 'IGL03143:Polb'
ID 410796
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Polb
Ensembl Gene ENSMUSG00000031536
Gene Name polymerase (DNA directed), beta
Synonyms A430088C08Rik, Pol beta
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL03143
Quality Score
Status
Chromosome 8
Chromosomal Location 23118142-23143451 bp(-) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) T to C at 23130367 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000148216 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000033938] [ENSMUST00000210950]
AlphaFold Q8K409
Predicted Effect probably benign
Transcript: ENSMUST00000033938
SMART Domains Protein: ENSMUSP00000033938
Gene: ENSMUSG00000031536

DomainStartEndE-ValueType
POLXc 10 334 4.58e-159 SMART
HhH1 57 76 1.91e-1 SMART
HhH1 98 117 1.14e1 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000181668
Predicted Effect probably benign
Transcript: ENSMUST00000210950
Coding Region Coverage
Validation Efficiency
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: 56 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ackr2 T G 9: 121,738,333 (GRCm39) L236R probably damaging Het
Agbl1 C T 7: 76,069,793 (GRCm39) Q442* probably null Het
Ahrr G A 13: 74,405,614 (GRCm39) Q108* probably null Het
Ankrd23 T C 1: 36,570,726 (GRCm39) probably benign Het
Art5 A G 7: 101,747,104 (GRCm39) I225T probably damaging Het
Asxl3 T C 18: 22,656,031 (GRCm39) V1347A probably benign Het
Birc6 A G 17: 74,905,994 (GRCm39) M1326V possibly damaging Het
Bpifb6 A C 2: 153,744,655 (GRCm39) N32T probably damaging Het
Brip1 T A 11: 85,952,653 (GRCm39) T1043S possibly damaging Het
Cbx5 A T 15: 103,121,532 (GRCm39) V35E probably damaging Het
Ccdc175 T A 12: 72,182,832 (GRCm39) M396L probably benign Het
Ceacam3 G T 7: 16,892,045 (GRCm39) E263* probably null Het
Cyp4a12a A G 4: 115,159,200 (GRCm39) T157A probably benign Het
Dennd11 A T 6: 40,399,828 (GRCm39) probably benign Het
Derl3 T C 10: 75,730,324 (GRCm39) V129A possibly damaging Het
Dnajb1 T C 8: 84,335,103 (GRCm39) I48T probably damaging Het
Dop1b G A 16: 93,556,543 (GRCm39) E349K probably benign Het
Fkbp10 A T 11: 100,313,580 (GRCm39) I285F probably benign Het
Frrs1 A T 3: 116,692,836 (GRCm39) T37S probably damaging Het
Gata2 A G 6: 88,181,677 (GRCm39) Y377C probably damaging Het
Gm9789 T A 16: 88,954,883 (GRCm39) probably benign Het
Itpkb T A 1: 180,160,933 (GRCm39) V353D probably benign Het
Kcng4 T C 8: 120,352,509 (GRCm39) E467G probably damaging Het
Kdm3a A T 6: 71,573,845 (GRCm39) I906N probably damaging Het
Lama1 G A 17: 68,111,531 (GRCm39) G2261R probably damaging Het
Lamc1 A T 1: 153,208,020 (GRCm39) L89Q probably benign Het
Lef1 G T 3: 130,993,965 (GRCm39) E314* probably null Het
Lpin3 T C 2: 160,745,518 (GRCm39) probably benign Het
Mrtfb A G 16: 13,218,676 (GRCm39) N452D possibly damaging Het
Naaladl1 C T 19: 6,164,896 (GRCm39) T628I possibly damaging Het
Nell1 C T 7: 49,929,281 (GRCm39) Q259* probably null Het
Neu2 G T 1: 87,524,698 (GRCm39) E228* probably null Het
Or5b119 A T 19: 13,456,835 (GRCm39) H242Q probably damaging Het
Or5k15 A G 16: 58,709,824 (GRCm39) F253S probably damaging Het
Or8g21 T G 9: 38,906,732 (GRCm39) probably benign Het
Or8k20 T C 2: 86,106,580 (GRCm39) N84D probably benign Het
Osbpl6 T A 2: 76,378,716 (GRCm39) D124E probably damaging Het
Palm T C 10: 79,652,617 (GRCm39) probably benign Het
Parp8 C A 13: 117,047,497 (GRCm39) probably benign Het
Pax7 A G 4: 139,556,798 (GRCm39) probably benign Het
Pcnx3 G A 19: 5,735,423 (GRCm39) R468W probably damaging Het
Pds5b T A 5: 150,702,722 (GRCm39) V818D probably damaging Het
Piezo2 C T 18: 63,241,147 (GRCm39) V694I probably damaging Het
Plk1 A G 7: 121,760,877 (GRCm39) probably benign Het
Rad54b A G 4: 11,599,755 (GRCm39) T320A probably damaging Het
Reg3b G A 6: 78,349,183 (GRCm39) W103* probably null Het
Slc17a3 T G 13: 24,039,962 (GRCm39) probably null Het
Snrnp200 C T 2: 127,071,962 (GRCm39) probably benign Het
Stox2 T A 8: 47,646,839 (GRCm39) H207L possibly damaging Het
Tbx15 A C 3: 99,259,514 (GRCm39) M462L possibly damaging Het
Tcirg1 G A 19: 3,948,811 (GRCm39) T458I probably damaging Het
Tnfrsf25 A G 4: 152,201,384 (GRCm39) probably benign Het
Trank1 A G 9: 111,195,155 (GRCm39) K1060E probably damaging Het
Ttc16 T C 2: 32,664,457 (GRCm39) D3G possibly damaging Het
Vmn1r199 A C 13: 22,567,299 (GRCm39) N155H probably damaging Het
Vmn1r202 G A 13: 22,685,640 (GRCm39) T259I 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
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
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
Posted On 2016-08-02