|Institutional Source||Beutler Lab|
|Gene Name||helicase, lymphoid specific|
|Synonyms||YFK8, LSH, proliferation-associated SNF2-like, PASG, Lysh, E130115I21Rik|
|Is this an essential gene?||Essential (E-score: 1.000)|
|Stock #||R1646 (G1)|
|Chromosomal Location||38930915-38971051 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||A to T at 38967783 bp|
|Amino Acid Change||Isoleucine to Leucine at position 808 (I808L)|
|Ref Sequence||ENSEMBL: ENSMUSP00000025965 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000025965]|
|Predicted Effect||probably benign
AA Change: I808L
PolyPhen 2 Score 0.187 (Sensitivity: 0.92; Specificity: 0.87)
AA Change: I808L
|Meta Mutation Damage Score||0.0637|
|Coding Region Coverage||
|Validation Efficiency||96% (69/72)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a lymphoid-specific helicase. Other helicases function in processes involving DNA strand separation, including replication, repair, recombination, and transcription. This protein is thought to be involved with cellular proliferation and may play a role in leukemogenesis. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jan 2014]
PHENOTYPE: Homozygotes for a null allele show DNA hypomethylation, delayed growth, multiorgan and skeletal defects, premature graying, alopecia, low fat deposition, kyphosis, cachexia and early death. Homozygotes for another null allele show neonatal death, low birth weight, lymphoid defects and renal lesions. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Hells||
(F):5'- GCGTTCAAACTCTGCATGATTGTCTC -3'
(R):5'- TTCCACAGGAAGACTGATAAACTTGGC -3'
(F):5'- GGGAAAGAATATCCCACAATTCTCTG -3'
(R):5'- AAGACTGATAAACTTGGCAATGG -3'