Incidental Mutation 'IGL02026:Gclc'
ID184163
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Gclc
Ensembl Gene ENSMUSG00000032350
Gene Nameglutamate-cysteine ligase, catalytic subunit
SynonymsD9Wsu168e, gamma GCS-HS, GLCL-H, Glclc
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL02026
Quality Score
Status
Chromosome9
Chromosomal Location77754535-77794485 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 77792060 bp
ZygosityHeterozygous
Amino Acid Change Valine to Alanine at position 530 (V530A)
Ref Sequence ENSEMBL: ENSMUSP00000034905 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034905]
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: 68,571,802 V237E possibly damaging Het
Amh T C 10: 80,805,408 L54P probably damaging Het
Aoc3 T C 11: 101,337,595 S743P probably benign Het
Arhgap23 T A 11: 97,451,581 W19R probably damaging Het
Atm C T 9: 53,442,417 probably null Het
BC100530 C A 16: 36,367,486 V6F possibly damaging Het
Ccdc47 T C 11: 106,205,027 E281G probably damaging Het
Col7a1 A C 9: 108,968,029 K1650N probably damaging Het
Evi2b T C 11: 79,515,787 S321G probably damaging Het
Fancm T G 12: 65,105,734 V988G probably benign Het
Gbp2 A G 3: 142,633,480 Y431C probably damaging Het
Gm4985 T G X: 23,957,994 H314P probably damaging Het
Gm5885 T C 6: 133,531,328 noncoding transcript Het
Hlcs A T 16: 94,134,705 I576N probably damaging Het
Hnrnpul1 A T 7: 25,745,162 F240L probably damaging Het
Itgb6 C A 2: 60,628,066 V448F possibly damaging Het
Lama1 A G 17: 67,809,292 T2385A possibly damaging Het
Lamc2 C T 1: 153,144,736 probably benign Het
Lrrc32 C T 7: 98,499,560 R516C probably benign Het
Lrrtm3 T C 10: 64,088,452 N312S probably damaging Het
Ltbp4 G A 7: 27,327,417 R468* probably null Het
Man1a T C 10: 54,014,473 E373G probably damaging Het
Myo1h A T 5: 114,323,444 Q250L probably null Het
Myo9a T C 9: 59,905,962 V2077A probably damaging Het
Olfr114 A G 17: 37,589,407 probably benign Het
Otud5 C T X: 7,871,993 probably benign Het
Pcsk1 A G 13: 75,112,653 S332G probably benign Het
Pde8b A G 13: 95,034,361 V549A probably damaging Het
Pgap1 A T 1: 54,494,819 M645K probably benign Het
Pm20d1 A T 1: 131,801,759 R175* probably null Het
Polr2b A G 5: 77,332,252 N585S probably benign Het
Recql T A 6: 142,366,668 K41* probably null Het
Sccpdh A T 1: 179,678,069 H138L possibly damaging Het
Sec31a A T 5: 100,369,626 S951T probably benign Het
Slc44a4 A T 17: 34,921,856 probably benign Het
Tchhl1 G T 3: 93,470,555 A189S probably damaging Het
Tdrd12 G A 7: 35,504,233 probably benign Het
Trbv12-1 A G 6: 41,113,994 D100G probably damaging Het
Ttll13 T A 7: 80,260,379 S757T probably benign Het
Vipas39 T A 12: 87,251,709 probably benign Het
Vmn1r64 G A 7: 5,883,650 P298L possibly damaging Het
Vmn1r81 A G 7: 12,260,505 S59P probably damaging Het
Vsx1 A T 2: 150,688,527 V145D probably benign Het
Wdfy4 T A 14: 33,093,300 N1586I probably damaging Het
Zan T A 5: 137,405,464 probably benign Het
Zfp318 C T 17: 46,396,810 R265* probably null Het
Zzef1 T A 11: 72,881,338 M1707K probably benign Het
Other mutations in Gclc
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02059:Gclc APN 9 77787816 missense probably damaging 1.00
R0671:Gclc UTSW 9 77786798 missense probably damaging 1.00
R1469:Gclc UTSW 9 77781137 missense probably benign 0.01
R1469:Gclc UTSW 9 77781137 missense probably benign 0.01
R1700:Gclc UTSW 9 77776289 missense probably benign 0.04
R3120:Gclc UTSW 9 77781270 missense possibly damaging 0.84
R3830:Gclc UTSW 9 77791960 missense probably benign 0.24
R6747:Gclc UTSW 9 77788245 missense probably damaging 0.96
R7028:Gclc UTSW 9 77788216 missense probably damaging 1.00
R7120:Gclc UTSW 9 77786750 missense probably damaging 1.00
R7242:Gclc UTSW 9 77785371 missense probably benign 0.00
R7329:Gclc UTSW 9 77776191 missense probably damaging 1.00
R7716:Gclc UTSW 9 77754927 missense probably damaging 1.00
X0021:Gclc UTSW 9 77788209 missense probably damaging 1.00
Z1088:Gclc UTSW 9 77781367 splice site probably null
Z1177:Gclc UTSW 9 77786739 missense probably benign 0.06
Posted On2014-05-07