Incidental Mutation 'R6607:Gclm'
ID 526404
Institutional Source Beutler Lab
Gene Symbol Gclm
Ensembl Gene ENSMUSG00000028124
Gene Name glutamate-cysteine ligase, modifier subunit
Synonyms Gcmc, Glclr
MMRRC Submission 044730-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.326) question?
Stock # R6607 (G1)
Quality Score 225.009
Status Not validated
Chromosome 3
Chromosomal Location 122039206-122060864 bp(+) (GRCm39)
Type of Mutation splice site (5 bp from exon)
DNA Base Change (assembly) G to A at 122049264 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Gene Model predicted gene model for transcript(s): [ENSMUST00000029769] [ENSMUST00000149983] [ENSMUST00000178826]
AlphaFold O09172
Predicted Effect probably null
Transcript: ENSMUST00000029769
SMART Domains Protein: ENSMUSP00000029769
Gene: ENSMUSG00000028124

DomainStartEndE-ValueType
low complexity region 5 16 N/A INTRINSIC
Pfam:Aldo_ket_red 70 237 2.6e-8 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000072769
Predicted Effect noncoding transcript
Transcript: ENSMUST00000137540
Predicted Effect probably null
Transcript: ENSMUST00000149983
SMART Domains Protein: ENSMUSP00000123683
Gene: ENSMUSG00000028124

DomainStartEndE-ValueType
Pfam:Aldo_ket_red 15 143 1.4e-7 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000175860
Predicted Effect probably null
Transcript: ENSMUST00000176445
SMART Domains Protein: ENSMUSP00000134906
Gene: ENSMUSG00000028124

DomainStartEndE-ValueType
Pfam:Aldo_ket_red 39 184 3.3e-8 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000199699
Predicted Effect probably null
Transcript: ENSMUST00000178826
SMART Domains Protein: ENSMUSP00000136987
Gene: ENSMUSG00000028124

DomainStartEndE-ValueType
low complexity region 5 16 N/A INTRINSIC
Pfam:Aldo_ket_red 71 240 9.3e-10 PFAM
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.2%
  • 20x: 94.8%
Validation Efficiency 96% (27/28)
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. Gamma glutamylcysteine synthetase deficiency has been implicated in some forms of hemolytic anemia. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Apr 2015]
PHENOTYPE: Mice homozygous for one null allele demonstrate increased sensitivity to acetaminophen-induced hepatotoxicity and mice homozygous for another null allele exhibit increased cellular sensitivity to hydrogen peroxide. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 30 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A4galt T C 15: 83,112,507 (GRCm39) D92G possibly damaging Het
Ace A T 11: 105,863,203 (GRCm39) H326L possibly damaging Het
Adtrp A G 13: 41,931,087 (GRCm39) F167L probably benign Het
Agbl2 A G 2: 90,631,670 (GRCm39) T343A probably damaging Het
Cacna1a A T 8: 85,306,121 (GRCm39) I1290F probably damaging Het
Cdh4 G A 2: 179,515,889 (GRCm39) V356I probably benign Het
Celsr1 A G 15: 85,847,486 (GRCm39) V1417A probably benign Het
Ctbs A G 3: 146,163,128 (GRCm39) D172G possibly damaging Het
Dnah5 A G 15: 28,445,346 (GRCm39) T4161A possibly damaging Het
Dut A G 2: 125,098,787 (GRCm39) D140G probably damaging Het
Ep400 T C 5: 110,831,180 (GRCm39) D2162G unknown Het
Esyt2 G A 12: 116,332,360 (GRCm39) D781N probably benign Het
Fam174b T C 7: 73,416,312 (GRCm39) L135P probably damaging Het
Fbxo15 A T 18: 84,977,270 (GRCm39) T106S possibly damaging Het
Foxq1 A G 13: 31,743,129 (GRCm39) D77G possibly damaging Het
Gcn1 T A 5: 115,747,537 (GRCm39) S1677T probably damaging Het
Hamp2 T A 7: 30,622,013 (GRCm39) R59* probably null Het
Herc1 C T 9: 66,325,849 (GRCm39) A1441V probably benign Het
Lrp1 G A 10: 127,396,005 (GRCm39) H2422Y probably damaging Het
Rbks C T 5: 31,805,136 (GRCm39) V243M possibly damaging Het
Rnd2 C T 11: 101,359,825 (GRCm39) L57F probably damaging Het
Rsf1 CG CGACGGCGGTG 7: 97,229,115 (GRCm39) probably benign Homo
Slc17a4 T C 13: 24,089,397 (GRCm39) probably null Het
Slc29a1 A C 17: 45,899,853 (GRCm39) probably null Het
Tenm2 A G 11: 35,954,602 (GRCm39) probably null Het
Tmem26 T A 10: 68,614,543 (GRCm39) H319Q probably benign Het
Vmn1r203 A G 13: 22,708,891 (GRCm39) Y224C probably benign Het
Vmn1r223 T C 13: 23,433,919 (GRCm39) I171T probably damaging Het
Vmn2r101 T C 17: 19,832,296 (GRCm39) L764S probably damaging Het
Vmn2r84 T C 10: 130,226,731 (GRCm39) H369R possibly damaging Het
Other mutations in Gclm
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0359:Gclm UTSW 3 122,049,269 (GRCm39) splice site probably benign
R1168:Gclm UTSW 3 122,056,337 (GRCm39) missense possibly damaging 0.95
R5093:Gclm UTSW 3 122,049,261 (GRCm39) critical splice donor site probably null
R5427:Gclm UTSW 3 122,059,976 (GRCm39) missense probably damaging 0.98
R5696:Gclm UTSW 3 122,059,936 (GRCm39) missense probably benign 0.11
R7065:Gclm UTSW 3 122,056,320 (GRCm39) missense probably benign 0.02
R7430:Gclm UTSW 3 122,039,729 (GRCm39) missense probably benign 0.43
R7690:Gclm UTSW 3 122,039,705 (GRCm39) missense probably damaging 1.00
R8699:Gclm UTSW 3 122,059,972 (GRCm39) missense possibly damaging 0.87
Predicted Primers
Posted On 2018-06-25