|Institutional Source||Beutler Lab|
|Gene Name||polymerase (DNA directed), beta|
|Synonyms||Pol beta, A430088C08Rik|
|Is this an essential gene?||Essential (E-score: 1.000)|
|Stock #||R0280 (G1)|
|Chromosomal Location||22628126-22653435 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||A to T at 22640392 bp|
|Amino Acid Change||Tyrosine to Asparagine at position 173 (Y173N)|
|Ref Sequence||ENSEMBL: ENSMUSP00000033938 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000033938] [ENSMUST00000210950]|
|Predicted Effect||probably damaging
AA Change: Y173N
PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
AA Change: Y173N
|Predicted Effect||noncoding transcript
|Predicted Effect||probably benign
|Meta Mutation Damage Score||0.516|
|Coding Region Coverage||
|Validation Efficiency||96% (55/57)|
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||
|Other mutations in Polb||
(F):5'- ACTCAGGTGCAATGACAGAGACAAC -3'
(R):5'- AGCACATCAGAGCCTTCTTCCGTG -3'
(F):5'- TGGGATAAACATGCCCAAGC -3'
(R):5'- CCAGGTGCTTTGATCTATAAACC -3'