Incidental Mutation 'R7690:Gclm'
ID 593320
Institutional Source Beutler Lab
Gene Symbol Gclm
Ensembl Gene ENSMUSG00000028124
Gene Name glutamate-cysteine ligase, modifier subunit
Synonyms Gcmc, Glclr
MMRRC Submission 045754-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.326) question?
Stock # R7690 (G1)
Quality Score 225.009
Status Not validated
Chromosome 3
Chromosomal Location 122039206-122060864 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 122039705 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Serine at position 24 (N24S)
Ref Sequence ENSEMBL: ENSMUSP00000029769 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029769] [ENSMUST00000178826]
AlphaFold O09172
Predicted Effect probably damaging
Transcript: ENSMUST00000029769
AA Change: N24S

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000029769
Gene: ENSMUSG00000028124
AA Change: N24S

DomainStartEndE-ValueType
low complexity region 5 16 N/A INTRINSIC
Pfam:Aldo_ket_red 70 237 2.6e-8 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000176445
SMART Domains Protein: ENSMUSP00000134906
Gene: ENSMUSG00000028124

DomainStartEndE-ValueType
Pfam:Aldo_ket_red 39 184 3.3e-8 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000178826
AA Change: N24S

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000136987
Gene: ENSMUSG00000028124
AA Change: N24S

DomainStartEndE-ValueType
low complexity region 5 16 N/A INTRINSIC
Pfam:Aldo_ket_red 71 240 9.3e-10 PFAM
Predicted Effect
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.3%
Validation Efficiency 97% (57/59)
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: 59 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca12 T A 1: 71,353,313 (GRCm39) T710S probably benign Het
Adgrl2 A G 3: 148,522,934 (GRCm39) L430P Het
Agap1 T C 1: 89,770,793 (GRCm39) S648P probably benign Het
Alox5 T C 6: 116,392,417 (GRCm39) H368R probably damaging Het
Ano2 T C 6: 125,990,161 (GRCm39) F761L probably damaging Het
Aox4 T C 1: 58,303,076 (GRCm39) V1169A probably damaging Het
Apbb1ip T A 2: 22,706,996 (GRCm39) M11K unknown Het
Arl5a G T 2: 52,302,077 (GRCm39) H112Q possibly damaging Het
Ccdc18 C T 5: 108,376,528 (GRCm39) T1323I probably benign Het
Cmtm5 G A 14: 55,173,938 (GRCm39) probably benign Het
Cul2 T C 18: 3,419,420 (GRCm39) Y194H probably benign Het
Daglb T C 5: 143,479,938 (GRCm39) I415T possibly damaging Het
Ddx28 A G 8: 106,736,963 (GRCm39) V365A probably damaging Het
Dnah6 T C 6: 73,146,063 (GRCm39) probably null Het
Eppk1 T A 15: 75,995,946 (GRCm39) T312S probably benign Het
Erich4 C A 7: 25,314,710 (GRCm39) V68L possibly damaging Het
Fam171a2 G A 11: 102,328,660 (GRCm39) P700S probably benign Het
Fat3 T C 9: 15,909,477 (GRCm39) N2175S probably damaging Het
Fcrl6 T G 1: 172,426,223 (GRCm39) R191S probably damaging Het
Fpgt A G 3: 154,793,467 (GRCm39) S187P probably damaging Het
Gapvd1 T G 2: 34,619,134 (GRCm39) T80P possibly damaging Het
Gdf15 A G 8: 71,083,997 (GRCm39) I89T possibly damaging Het
Gpn2 A G 4: 133,318,693 (GRCm39) E306G probably damaging Het
Iars2 A T 1: 185,053,194 (GRCm39) L359Q probably damaging Het
Kbtbd4 T G 2: 90,736,240 (GRCm39) C84G possibly damaging Het
Manea A G 4: 26,327,910 (GRCm39) V377A probably benign Het
Map4 C T 9: 109,828,861 (GRCm39) T82I probably damaging Het
Mocos C T 18: 24,797,082 (GRCm39) H81Y probably damaging Het
Mtx1 T A 3: 89,120,088 (GRCm39) T87S Het
Muc6 G C 7: 141,217,659 (GRCm39) P2338R probably damaging Het
Myom2 A T 8: 15,161,717 (GRCm39) probably null Het
Mzt1 C T 14: 99,278,024 (GRCm39) C48Y probably damaging Het
Nlrp9b C A 7: 19,758,295 (GRCm39) P511T probably benign Het
Noc2l A G 4: 156,322,088 (GRCm39) E135G probably benign Het
Nova1 G A 12: 46,767,549 (GRCm39) P124L unknown Het
Pax8 T A 2: 24,331,682 (GRCm39) T134S probably benign Het
Pde4a T A 9: 21,077,300 (GRCm39) L26Q probably damaging Het
Pde6b G A 5: 108,567,384 (GRCm39) E254K probably damaging Het
Pdlim7 A G 13: 55,656,744 (GRCm39) I70T probably damaging Het
Pinx1 T A 14: 64,101,660 (GRCm39) probably null Het
Pomt2 C A 12: 87,177,141 (GRCm39) R352L probably damaging Het
Rapgef5 G A 12: 117,685,105 (GRCm39) V519I possibly damaging Het
Rnps1 A G 17: 24,637,168 (GRCm39) E16G unknown Het
Slc4a5 T C 6: 83,262,854 (GRCm39) F782S probably damaging Het
Snap91 A G 9: 86,707,031 (GRCm39) V253A possibly damaging Het
Syce3 T C 15: 89,281,544 (GRCm39) M32V possibly damaging Het
Tcaf3 C A 6: 42,574,069 (GRCm39) V48L probably damaging Het
Tenm4 T C 7: 96,512,740 (GRCm39) V1366A probably benign Het
Tnxb G A 17: 34,908,494 (GRCm39) M1382I probably benign Het
Tnxb G A 17: 34,908,501 (GRCm39) G1385R probably damaging Het
Top3a G T 11: 60,647,206 (GRCm39) L238I probably damaging Het
Trim9 A T 12: 70,295,117 (GRCm39) N742K probably benign Het
Trp63 T A 16: 25,695,483 (GRCm39) Y482N unknown Het
Ttc23 T G 7: 67,319,918 (GRCm39) F192V possibly damaging Het
Uck1 A G 2: 32,148,184 (GRCm39) V180A probably benign Het
Vwa5b1 G A 4: 138,318,244 (GRCm39) T541I probably damaging Het
Zfp456 G T 13: 67,514,913 (GRCm39) H264Q probably damaging Het
Zfpm2 T G 15: 40,818,162 (GRCm39) V165G possibly damaging Het
Zup1 C T 10: 33,806,151 (GRCm39) probably null 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
R6607:Gclm UTSW 3 122,049,264 (GRCm39) splice site probably null
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
R8699:Gclm UTSW 3 122,059,972 (GRCm39) missense possibly damaging 0.87
Predicted Primers PCR Primer
(F):5'- CAGGAAACAGCTCCCTCGTTTC -3'
(R):5'- CTCAAGAGTTGTGCGATCAAC -3'

Sequencing Primer
(F):5'- AGCTCCCTCGTTTCAGCGG -3'
(R):5'- GTTGTGCGATCAACTCCGAC -3'
Posted On 2019-11-12