|Institutional Source||Beutler Lab|
|Gene Name||glutamate-cysteine ligase, catalytic subunit|
|Synonyms||D9Wsu168e, gamma GCS-HS, GLCL-H, Glclc|
|Is this an essential gene?||Essential (E-score: 1.000)|
|Stock #||R6747 (G1)|
|Chromosomal Location||77754535-77794485 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||A to T at 77788245 bp (GRCm38)|
|Amino Acid Change||Arginine to Tryptophan at position 450 (R450W)|
|Ref Sequence||ENSEMBL: ENSMUSP00000034905 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000034905]|
AA Change: R450W
PolyPhen 2 Score 0.965 (Sensitivity: 0.78; Specificity: 0.95)
AA Change: R450W
|Coding Region Coverage||
|Validation Efficiency||97% (68/70)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Glutamate-cysteine ligase, also known as gamma-glutamylcysteine synthetase is the first rate-limiting enzyme of glutathione synthesis. The enzyme consists of two subunits, a heavy catalytic subunit and a light regulatory subunit. This locus encodes the catalytic subunit, while the regulatory subunit is derived from a different gene located on chromosome 1p22-p21. Mutations at this locus have been associated with hemolytic anemia due to deficiency of gamma-glutamylcysteine synthetase and susceptibility to myocardial infarction.[provided by RefSeq, Oct 2010]
PHENOTYPE: Homozygous mutant mice are embryonic lethal. One model shows lethality before E13 while another shows lethality between E7.5-E8.5. In this second model, embryos are arrested at the egg cylinder stage, fail to gastrulate, do not form mesoderm, and exhibitincreased apoptosis. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Gclc||
(F):5'- TGAATAGCAACTGCAAACGC -3'
(R):5'- GCTTGCAAGGAAAATCAGAGTTC -3'
(F):5'- AACTGCAAACGCCTCTGGG -3'
(R):5'- TGCAAGGAAAATCAGAGTTCAAGTAG -3'