Incidental Mutation 'R6607:Gclm'
Institutional Source Beutler Lab
Gene Symbol Gclm
Ensembl Gene ENSMUSG00000028124
Gene Nameglutamate-cysteine ligase, modifier subunit
SynonymsGlclr, Gcmc
MMRRC Submission
Accession Numbers
Is this an essential gene? Possibly non essential (E-score: 0.326) question?
Stock #R6607 (G1)
Quality Score225.009
Status Not validated
Chromosomal Location122245557-122270732 bp(+) (GRCm38)
Type of Mutationsplice site (5 bp from exon)
DNA Base Change (assembly) G to A at 122255615 bp
Amino Acid Change
Gene Model predicted gene model for transcript(s): [ENSMUST00000029769] [ENSMUST00000149983] [ENSMUST00000178826]
Predicted Effect probably null
Transcript: ENSMUST00000029769
SMART Domains Protein: ENSMUSP00000029769
Gene: ENSMUSG00000028124

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

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

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

low complexity region 5 16 N/A INTRINSIC
Pfam:Aldo_ket_red 71 240 9.3e-10 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000199699
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: 83,228,306 D92G possibly damaging Het
Ace A T 11: 105,972,377 H326L possibly damaging Het
Adtrp A G 13: 41,777,611 F167L probably benign Het
Agbl2 A G 2: 90,801,326 T343A probably damaging Het
Cacna1a A T 8: 84,579,492 I1290F probably damaging Het
Cdh4 G A 2: 179,874,096 V356I probably benign Het
Celsr1 A G 15: 85,963,285 V1417A probably benign Het
Ctbs A G 3: 146,457,373 D172G possibly damaging Het
Dnah5 A G 15: 28,445,200 T4161A possibly damaging Het
Dut A G 2: 125,256,867 D140G probably damaging Het
Ep400 T C 5: 110,683,314 D2162G unknown Het
Esyt2 G A 12: 116,368,740 D781N probably benign Het
Fam174b T C 7: 73,766,564 L135P probably damaging Het
Fbxo15 A T 18: 84,959,145 T106S possibly damaging Het
Foxq1 A G 13: 31,559,146 D77G possibly damaging Het
Gcn1l1 T A 5: 115,609,478 S1677T probably damaging Het
Hamp2 T A 7: 30,922,588 R59* probably null Het
Herc1 C T 9: 66,418,567 A1441V probably benign Het
Lrp1 G A 10: 127,560,136 H2422Y probably damaging Het
Rbks C T 5: 31,647,792 V243M possibly damaging Het
Rnd2 C T 11: 101,468,999 L57F probably damaging Het
Rsf1 CG CGACGGCGGTG 7: 97,579,908 probably benign Homo
Slc17a4 T C 13: 23,905,414 probably null Het
Slc29a1 A C 17: 45,588,927 probably null Het
Tenm2 A G 11: 36,063,775 probably null Het
Tmem26 T A 10: 68,778,713 H319Q probably benign Het
Vmn1r203 A G 13: 22,524,721 Y224C probably benign Het
Vmn1r223 T C 13: 23,249,749 I171T probably damaging Het
Vmn2r101 T C 17: 19,612,034 L764S probably damaging Het
Vmn2r84 T C 10: 130,390,862 H369R possibly damaging Het
Other mutations in Gclm
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0359:Gclm UTSW 3 122255620 splice site probably benign
R1168:Gclm UTSW 3 122262688 missense possibly damaging 0.95
R5093:Gclm UTSW 3 122255612 critical splice donor site probably null
R5427:Gclm UTSW 3 122266327 missense probably damaging 0.98
R5696:Gclm UTSW 3 122266287 missense probably benign 0.11
R7065:Gclm UTSW 3 122262671 missense probably benign 0.02
R7430:Gclm UTSW 3 122246080 missense probably benign 0.43
R7690:Gclm UTSW 3 122246056 missense probably damaging 1.00
Predicted Primers
Posted On2018-06-25