Incidental Mutation 'R7430:Gclm'
ID 576379
Institutional Source Beutler Lab
Gene Symbol Gclm
Ensembl Gene ENSMUSG00000028124
Gene Name glutamate-cysteine ligase, modifier subunit
Synonyms Gcmc, Glclr
MMRRC Submission 045508-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.347) question?
Stock # R7430 (G1)
Quality Score 203.009
Status Not validated
Chromosome 3
Chromosomal Location 122039206-122060864 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 122039729 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Glutamine at position 32 (R32Q)
Ref Sequence ENSEMBL: ENSMUSP00000029769 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029769] [ENSMUST00000178826]
AlphaFold O09172
Predicted Effect probably benign
Transcript: ENSMUST00000029769
AA Change: R32Q

PolyPhen 2 Score 0.430 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000029769
Gene: ENSMUSG00000028124
AA Change: R32Q

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 benign
Transcript: ENSMUST00000178826
AA Change: R32Q

PolyPhen 2 Score 0.430 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000136987
Gene: ENSMUSG00000028124
AA Change: R32Q

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: 99.9%
  • 10x: 99.6%
  • 20x: 98.6%
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. 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: 76 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca3 G C 17: 24,583,932 (GRCm39) probably null Het
Ankrd17 C G 5: 90,443,516 (GRCm39) E384Q possibly damaging Het
Atp8b4 A T 2: 126,245,291 (GRCm39) V286E possibly damaging Het
BC028528 CTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTT CTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTT 3: 95,795,448 (GRCm39) probably benign Het
BC028528 ACTGGTTCTGTGGTC ACTGGTTCTGTGGTCTCTGGTTCTGTGGTC 3: 95,795,481 (GRCm39) probably benign Het
Brms1l T C 12: 55,892,084 (GRCm39) L126P probably damaging Het
C2cd4d G A 3: 94,271,657 (GRCm39) V308M possibly damaging Het
Calcr A G 6: 3,708,586 (GRCm39) L200S probably damaging Het
Card6 G T 15: 5,128,682 (GRCm39) Q905K probably benign Het
Chka A G 19: 3,942,787 (GRCm39) Y415C probably damaging Het
Cimap3 T C 3: 105,921,834 (GRCm39) R30G probably benign Het
Cnih1 C T 14: 47,017,679 (GRCm39) V52I possibly damaging Het
Cox4i1 T A 8: 121,400,770 (GRCm39) M145K probably damaging Het
Cubn G T 2: 13,327,804 (GRCm39) R2674S possibly damaging Het
Cyfip1 A G 7: 55,550,341 (GRCm39) E692G probably damaging Het
Dnah8 T C 17: 30,925,363 (GRCm39) F1266S probably damaging Het
Edc4 T C 8: 106,618,216 (GRCm39) S1245P probably damaging Het
Enpp1 G T 10: 24,587,848 (GRCm39) H14Q probably benign Het
Fam181b G A 7: 92,729,403 (GRCm39) V59M probably benign Het
Fat4 T A 3: 38,941,599 (GRCm39) I164N probably damaging Het
Fat4 A G 3: 39,063,793 (GRCm39) D4583G probably damaging Het
Fgb C T 3: 82,954,014 (GRCm39) V75I probably benign Het
Fign T C 2: 63,809,404 (GRCm39) D622G probably damaging Het
Frmd3 A G 4: 74,063,342 (GRCm39) D223G probably damaging Het
Grsf1 A T 5: 88,811,086 (GRCm39) I428N possibly damaging Het
Hnrnpll T A 17: 80,357,276 (GRCm39) I247F probably damaging Het
Hscb T A 5: 110,977,024 (GRCm39) I223L probably benign Het
Ifi204 C T 1: 173,583,247 (GRCm39) A324T probably benign Het
Itgav G A 2: 83,624,602 (GRCm39) V731M probably damaging Het
Loricrin C T 3: 91,989,206 (GRCm39) G27S unknown Het
Lpin3 A G 2: 160,740,586 (GRCm39) D377G probably benign Het
Marveld3 A G 8: 110,675,100 (GRCm39) S239P possibly damaging Het
Mast3 A C 8: 71,232,947 (GRCm39) C1122G probably damaging Het
Ms4a4d A G 19: 11,535,297 (GRCm39) I198M probably benign Het
Mup14 C T 4: 61,259,447 (GRCm39) G35E probably damaging Het
Myh1 C T 11: 67,096,393 (GRCm39) Q291* probably null Het
Myo1a T A 10: 127,542,716 (GRCm39) V118E probably damaging Het
Nfatc3 A G 8: 106,835,035 (GRCm39) T794A probably benign Het
Nkx6-2 T C 7: 139,161,916 (GRCm39) T154A probably damaging Het
Or51g2 A T 7: 102,622,969 (GRCm39) S77T probably damaging Het
Or7g16 T C 9: 18,726,650 (GRCm39) *313W probably null Het
Ovgp1 G C 3: 105,893,618 (GRCm39) A464P probably damaging Het
Ovgp1 C T 3: 105,893,619 (GRCm39) A464V possibly damaging Het
Pde6c T A 19: 38,129,887 (GRCm39) Y266N probably damaging Het
Per2 C A 1: 91,351,705 (GRCm39) E934* probably null Het
Pgm1 T A 4: 99,813,192 (GRCm39) M1K probably null Het
Plcb4 T C 2: 135,810,242 (GRCm39) Y626H probably damaging Het
Postn T A 3: 54,277,623 (GRCm39) V206D probably damaging Het
Prss29 T A 17: 25,540,113 (GRCm39) probably null Het
Ptges3l C A 11: 101,314,641 (GRCm39) V85L possibly damaging Het
Riok2 T C 17: 17,607,802 (GRCm39) L450S probably benign Het
Rpap3 A T 15: 97,586,031 (GRCm39) L320Q possibly damaging Het
Rptor T C 11: 119,737,654 (GRCm39) W576R probably damaging Het
Sgk3 A G 1: 9,942,483 (GRCm39) D85G probably benign Het
Slc2a1 A G 4: 118,993,510 (GRCm39) Y449C probably damaging Het
Slco1a5 A T 6: 142,194,438 (GRCm39) S402T probably benign Het
Smad2 T A 18: 76,421,151 (GRCm39) V160E probably damaging Het
Snx13 T C 12: 35,183,357 (GRCm39) V760A possibly damaging Het
Sugt1 T A 14: 79,857,241 (GRCm39) probably null Het
Syne2 C T 12: 75,980,770 (GRCm39) T1509M probably damaging Het
Syne2 T A 12: 76,087,184 (GRCm39) L214* probably null Het
Tmem120a T A 5: 135,764,990 (GRCm39) probably null Het
Tmem161b A G 13: 84,430,866 (GRCm39) probably null Het
Trim33 T C 3: 103,218,219 (GRCm39) I256T possibly damaging Het
Tspan17 G A 13: 54,943,785 (GRCm39) E213K probably benign Het
Ttc6 T A 12: 57,704,888 (GRCm39) I631N probably benign Het
Ttn T A 2: 76,641,283 (GRCm39) L13574F probably damaging Het
Tufm A G 7: 126,088,299 (GRCm39) D228G probably benign Het
Usf1 T A 1: 171,245,295 (GRCm39) S236T probably benign Het
Usp39 T C 6: 72,319,900 (GRCm39) Y106C probably damaging Het
Usp46 T A 5: 74,163,849 (GRCm39) Y296F probably damaging Het
Vmn2r82 A G 10: 79,217,087 (GRCm39) N473S probably damaging Het
Washc5 A T 15: 59,241,762 (GRCm39) Y51* probably null Het
Zbtb47 G A 9: 121,592,732 (GRCm39) D351N probably benign Het
Zfp763 T A 17: 33,238,506 (GRCm39) Y213F possibly damaging Het
Zswim5 A G 4: 116,833,054 (GRCm39) T596A 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
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
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 PCR Primer
(F):5'- GGAAACAGCTCCCTCGTTTC -3'
(R):5'- CCTCAAGAGTTGTGCGATCAAC -3'

Sequencing Primer
(F):5'- AGCTCCCTCGTTTCAGCGG -3'
(R):5'- GTTGTGCGATCAACTCCGAC -3'
Posted On 2019-10-07