|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 #||R3830 (G1)|
|Chromosomal Location||77754535-77794485 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||A to T at 77791960 bp|
|Amino Acid Change||Isoleucine to Leucine at position 520 (I520L)|
|Ref Sequence||ENSEMBL: ENSMUSP00000034905 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000034905]|
|Predicted Effect||probably benign
AA Change: I520L
PolyPhen 2 Score 0.243 (Sensitivity: 0.91; Specificity: 0.88)
AA Change: I520L
|Coding Region Coverage||
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'- CTGCAAAGGTATCACGTGTTGG -3'
(R):5'- GCAACTCTACTGTACCAGATGC -3'
(F):5'- CAAAGGTATCACGTGTTGGGGATC -3'
(R):5'- TTCAGAATACTGCATCGGGTGTCC -3'