|Institutional Source||Beutler Lab|
|Gene Name||GEN1, Holliday junction 5' flap endonuclease|
|Is this an essential gene?||Probably non essential (E-score: 0.167)|
|Stock #||R5091 (G1)|
|Chromosomal Location||11238920-11265801 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||C to T at 11246346 bp|
|Amino Acid Change||Valine to Isoleucine at position 337 (V337I)|
|Ref Sequence||ENSEMBL: ENSMUSP00000151310 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000166117] [ENSMUST00000218487] [ENSMUST00000218547]|
|Predicted Effect||possibly damaging
AA Change: V402I
PolyPhen 2 Score 0.811 (Sensitivity: 0.84; Specificity: 0.93)
AA Change: V402I
|Predicted Effect||probably damaging
AA Change: V337I
PolyPhen 2 Score 0.968 (Sensitivity: 0.77; Specificity: 0.95)
|Predicted Effect||probably benign
|Predicted Effect||noncoding transcript
|Meta Mutation Damage Score||0.1378|
|Coding Region Coverage||
|Validation Efficiency||96% (67/70)|
|MGI Phenotype||FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the Rad2/xeroderma pigmentosum group G nuclease family, whose members are characterized by N-terminal and internal xeroderma pigmentosum group G nuclease domains followed by helix-hairpin-helix domains and disordered C-terminal domains. The protein encoded by this gene is involved in resolution of Holliday junctions, which are intermediate four-way structures that covalently link DNA during homologous recombination and double-strand break repair. The protein resolves Holliday junctions by creating dual incisions across the junction to produce nicked duplex products that can be ligated. In addition, this protein has been found to localize to centrosomes where it has been implicated in regulation of centrosome integrity. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2016]|
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Gen1||
(F):5'- TCACCCCAATTGCTTTAGAAAC -3'
(R):5'- ATGAAAGTACACATTCAGTACATCC -3'
(F):5'- TAAGACCCCAAAGACAATTCATTTG -3'
(R):5'- TCCAATAATTTTCAACTCTACCTCAC -3'