Incidental Mutation 'IGL02026:Gclc'
ID 184163
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Gclc
Ensembl Gene ENSMUSG00000032350
Gene Name glutamate-cysteine ligase, catalytic subunit
Synonyms D9Wsu168e, gamma GCS-HS, Glclc, GLCL-H
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL02026
Quality Score
Status
Chromosome 9
Chromosomal Location 77661817-77701767 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 77699342 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 530 (V530A)
Ref Sequence ENSEMBL: ENSMUSP00000034905 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034905]
AlphaFold P97494
Predicted Effect probably benign
Transcript: ENSMUST00000034905
AA Change: V530A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000034905
Gene: ENSMUSG00000032350
AA Change: V530A

DomainStartEndE-ValueType
Pfam:GCS 236 608 1.3e-185 PFAM
Coding Region Coverage
Validation Efficiency
MGI Phenotype 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
Total: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamdec1 A T 14: 68,809,251 (GRCm39) V237E possibly damaging Het
Amh T C 10: 80,641,242 (GRCm39) L54P probably damaging Het
Aoc3 T C 11: 101,228,421 (GRCm39) S743P probably benign Het
Arhgap23 T A 11: 97,342,407 (GRCm39) W19R probably damaging Het
Atm C T 9: 53,353,717 (GRCm39) probably null Het
Ccdc47 T C 11: 106,095,853 (GRCm39) E281G probably damaging Het
Col7a1 A C 9: 108,797,097 (GRCm39) K1650N probably damaging Het
Cstdc5 C A 16: 36,187,848 (GRCm39) V6F possibly damaging Het
Evi2b T C 11: 79,406,613 (GRCm39) S321G probably damaging Het
Fancm T G 12: 65,152,508 (GRCm39) V988G probably benign Het
Gbp2 A G 3: 142,339,241 (GRCm39) Y431C probably damaging Het
Gm5885 T C 6: 133,508,291 (GRCm39) noncoding transcript Het
Hlcs A T 16: 93,935,564 (GRCm39) I576N probably damaging Het
Hnrnpul1 A T 7: 25,444,587 (GRCm39) F240L probably damaging Het
Itgb6 C A 2: 60,458,410 (GRCm39) V448F possibly damaging Het
Lama1 A G 17: 68,116,287 (GRCm39) T2385A possibly damaging Het
Lamc2 C T 1: 153,020,482 (GRCm39) probably benign Het
Lrrc32 C T 7: 98,148,767 (GRCm39) R516C probably benign Het
Lrrtm3 T C 10: 63,924,231 (GRCm39) N312S probably damaging Het
Ltbp4 G A 7: 27,026,842 (GRCm39) R468* probably null Het
Man1a T C 10: 53,890,569 (GRCm39) E373G probably damaging Het
Myo1h A T 5: 114,461,505 (GRCm39) Q250L probably null Het
Myo9a T C 9: 59,813,245 (GRCm39) V2077A probably damaging Het
Or14j3 A G 17: 37,900,298 (GRCm39) probably benign Het
Otud5 C T X: 7,738,232 (GRCm39) probably benign Het
Pcsk1 A G 13: 75,260,772 (GRCm39) S332G probably benign Het
Pde8b A G 13: 95,170,869 (GRCm39) V549A probably damaging Het
Pgap1 A T 1: 54,533,978 (GRCm39) M645K probably benign Het
Pm20d1 A T 1: 131,729,497 (GRCm39) R175* probably null Het
Polr2b A G 5: 77,480,099 (GRCm39) N585S probably benign Het
Recql T A 6: 142,312,394 (GRCm39) K41* probably null Het
Sccpdh A T 1: 179,505,634 (GRCm39) H138L possibly damaging Het
Sec31a A T 5: 100,517,485 (GRCm39) S951T probably benign Het
Slc44a4 A T 17: 35,140,832 (GRCm39) probably benign Het
Tchhl1 G T 3: 93,377,862 (GRCm39) A189S probably damaging Het
Tdrd12 G A 7: 35,203,658 (GRCm39) probably benign Het
Tesl2 T G X: 23,824,233 (GRCm39) H314P probably damaging Het
Trbv12-1 A G 6: 41,090,928 (GRCm39) D100G probably damaging Het
Ttll13 T A 7: 79,910,127 (GRCm39) S757T probably benign Het
Vipas39 T A 12: 87,298,483 (GRCm39) probably benign Het
Vmn1r64 G A 7: 5,886,649 (GRCm39) P298L possibly damaging Het
Vmn1r81 A G 7: 11,994,432 (GRCm39) S59P probably damaging Het
Vsx1 A T 2: 150,530,447 (GRCm39) V145D probably benign Het
Wdfy4 T A 14: 32,815,257 (GRCm39) N1586I probably damaging Het
Zan T A 5: 137,403,726 (GRCm39) probably benign Het
Zfp318 C T 17: 46,707,736 (GRCm39) R265* probably null Het
Zzef1 T A 11: 72,772,164 (GRCm39) M1707K probably benign Het
Other mutations in Gclc
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02059:Gclc APN 9 77,695,098 (GRCm39) missense probably damaging 1.00
R0671:Gclc UTSW 9 77,694,080 (GRCm39) missense probably damaging 1.00
R1469:Gclc UTSW 9 77,688,419 (GRCm39) missense probably benign 0.01
R1469:Gclc UTSW 9 77,688,419 (GRCm39) missense probably benign 0.01
R1700:Gclc UTSW 9 77,683,571 (GRCm39) missense probably benign 0.04
R3120:Gclc UTSW 9 77,688,552 (GRCm39) missense possibly damaging 0.84
R3830:Gclc UTSW 9 77,699,242 (GRCm39) missense probably benign 0.24
R6747:Gclc UTSW 9 77,695,527 (GRCm39) missense probably damaging 0.96
R7028:Gclc UTSW 9 77,695,498 (GRCm39) missense probably damaging 1.00
R7120:Gclc UTSW 9 77,694,032 (GRCm39) missense probably damaging 1.00
R7242:Gclc UTSW 9 77,692,653 (GRCm39) missense probably benign 0.00
R7329:Gclc UTSW 9 77,683,473 (GRCm39) missense probably damaging 1.00
R7716:Gclc UTSW 9 77,662,209 (GRCm39) missense probably damaging 1.00
X0021:Gclc UTSW 9 77,695,491 (GRCm39) missense probably damaging 1.00
Z1088:Gclc UTSW 9 77,688,649 (GRCm39) splice site probably null
Z1177:Gclc UTSW 9 77,694,021 (GRCm39) missense probably benign 0.06
Posted On 2014-05-07