|Institutional Source||Beutler Lab|
|Gene Name||polymerase (DNA directed), epsilon|
|Is this an essential gene?||Essential (E-score: 1.000)|
|Stock #||R0124 (G1)|
|Chromosomal Location||110286306-110337474 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||T to G at 110303992 bp|
|Amino Acid Change||Methionine to Arginine at position 900 (M900R)|
|Ref Sequence||ENSEMBL: ENSMUSP00000007296 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000007296]|
|Predicted Effect||probably damaging
AA Change: M900R
PolyPhen 2 Score 0.965 (Sensitivity: 0.78; Specificity: 0.95)
AA Change: M900R
|Predicted Effect||noncoding transcript
|Meta Mutation Damage Score||0.298|
|Coding Region Coverage||
|Validation Efficiency||100% (67/67)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes the catalytic subunit of DNA polymerase epsilon. The enzyme is involved in DNA repair and chromosomal DNA replication. Mutations in this gene have been associated with colorectal cancer 12 and facial dysmorphism, immunodeficiency, livedo, and short stature. [provided by RefSeq, Sep 2013]
PHENOTYPE: Mice homozygous for a knock-in allele exhibit increased incidence of tumors and premature death. Mice homozygous for a transgenic gene disruption exhibit embryonic lethality at E7. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Pole||
(F):5'- AGCCAAATTCCACCTTAGTTCTGTCC -3'
(R):5'- ccaagccatagctccaCTCTTCTTTAGT -3'
(F):5'- AACACCTGGCTTCTAAGGACTTG -3'
(R):5'- GCAAGTTGAATCTAACAGTCTTACC -3'