|Institutional Source||Beutler Lab|
|Gene Name||polymerase (DNA directed), lambda|
|Is this an essential gene?||Non essential (E-score: 0.000)|
|Stock #||R3721 (G1)|
|Chromosomal Location||45552275-45560531 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||A to G at 45553577 bp|
|Amino Acid Change||Isoleucine to Threonine at position 430 (I430T)|
|Ref Sequence||ENSEMBL: ENSMUSP00000026239 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000026239]|
|Predicted Effect||probably damaging
AA Change: I430T
PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
AA Change: I430T
|Meta Mutation Damage Score||0.278|
|Coding Region Coverage||
|Validation Efficiency||100% (59/59)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a DNA polymerase. DNA polymerases catalyze DNA-template-directed extension of the 3'-end of a DNA strand. This particular polymerase, which is a member of the X family of DNA polymerases, likely plays a role in non-homologous end joining and other DNA repair processes. Alternatively spliced transcript variants have been described. [provided by RefSeq, Mar 2010]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit defective heavy chain rearrangement. See also the Dpcd gene for mutations that affect both of these overlapping genes. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Poll||
(F):5'- TTATTGTCTTTGGCCCCAGG -3'
(R):5'- AGCTTAATATGAATCCCGGGG -3'
(F):5'- AGGTAGGATTCTTGCAGAGCCC -3'
(R):5'- GGAAGGCTGGGGCGAAG -3'