Incidental Mutation 'R6017:Gss'
ID 478623
Institutional Source Beutler Lab
Gene Symbol Gss
Ensembl Gene ENSMUSG00000027610
Gene Name glutathione synthetase
Synonyms GS-A/GS-B
MMRRC Submission 044191-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R6017 (G1)
Quality Score 186.009
Status Validated
Chromosome 2
Chromosomal Location 155563181-155592810 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) C to A at 155587465 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Alanine to Serine at position 36 (A36S)
Ref Sequence ENSEMBL: ENSMUSP00000122662 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000065973] [ENSMUST00000079691] [ENSMUST00000126322] [ENSMUST00000130881] [ENSMUST00000155347]
AlphaFold P51855
Predicted Effect probably benign
Transcript: ENSMUST00000065973
SMART Domains Protein: ENSMUSP00000068776
Gene: ENSMUSG00000027605

Pfam:AMP-binding 108 575 4.8e-98 PFAM
Pfam:AMP-binding_C 583 660 3.1e-21 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000079691
AA Change: A36S

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000078630
Gene: ENSMUSG00000027610
AA Change: A36S

Pfam:GSH_synth_ATP 12 472 6.7e-131 PFAM
Pfam:GSH_synthase 204 302 2.5e-36 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000126322
SMART Domains Protein: ENSMUSP00000117266
Gene: ENSMUSG00000027610

Pfam:GSH_synth_ATP 1 197 1.2e-63 PFAM
Pfam:GSH_synthase 160 200 3.1e-12 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000130859
Predicted Effect probably benign
Transcript: ENSMUST00000130881
SMART Domains Protein: ENSMUSP00000135319
Gene: ENSMUSG00000027610

Pfam:GSH_synth_ATP 1 404 9.2e-130 PFAM
Pfam:GSH_synthase 133 233 9e-38 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000137305
Predicted Effect noncoding transcript
Transcript: ENSMUST00000142509
Predicted Effect noncoding transcript
Transcript: ENSMUST00000153975
Predicted Effect probably benign
Transcript: ENSMUST00000155347
AA Change: A36S

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000122662
Gene: ENSMUSG00000027610
AA Change: A36S

Pfam:GSH_synth_ATP 5 179 1.8e-64 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000155884
Predicted Effect noncoding transcript
Transcript: ENSMUST00000157008
Predicted Effect noncoding transcript
Transcript: ENSMUST00000176415
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.4%
  • 10x: 97.0%
  • 20x: 90.5%
Validation Efficiency 97% (62/64)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Glutathione is important for a variety of biological functions, including protection of cells from oxidative damage by free radicals, detoxification of xenobiotics, and membrane transport. The protein encoded by this gene functions as a homodimer to catalyze the second step of glutathione biosynthesis, which is the ATP-dependent conversion of gamma-L-glutamyl-L-cysteine to glutathione. Defects in this gene are a cause of glutathione synthetase deficiency. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a null mutation all die before E7.5. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 65 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9030624J02Rik T A 7: 118,809,921 (GRCm38) V635D probably damaging Het
Adgb T C 10: 10,450,036 (GRCm38) I56M probably damaging Het
Adgrv1 A T 13: 81,397,423 (GRCm38) L5581* probably null Het
Arpc2 C A 1: 74,262,486 (GRCm38) H193N probably benign Het
B3galt5 A G 16: 96,315,184 (GRCm38) T6A probably benign Het
Bod1l A T 5: 41,818,760 (GRCm38) V1737E probably benign Het
Cacfd1 T G 2: 27,013,428 (GRCm38) probably benign Het
Cdc42ep4 A T 11: 113,729,366 (GRCm38) D66E probably benign Het
Cldn1 G T 16: 26,363,219 (GRCm38) T80N probably damaging Het
Cmtm1 C A 8: 104,310,951 (GRCm38) probably benign Het
Cntnap5c A T 17: 58,104,698 (GRCm38) I526F probably benign Het
Copb1 T C 7: 114,236,797 (GRCm38) K450E probably benign Het
Crebrf A C 17: 26,757,849 (GRCm38) I416L probably benign Het
Csmd3 C A 15: 48,314,012 (GRCm38) V377F possibly damaging Het
Cyp1a2 T C 9: 57,681,030 (GRCm38) K304E probably damaging Het
Cyp2d26 A G 15: 82,790,573 (GRCm38) S403P possibly damaging Het
Cyp4a12a T A 4: 115,326,279 (GRCm38) C198* probably null Het
Ddx11 A G 17: 66,130,017 (GRCm38) D102G Het
Dpys T A 15: 39,846,718 (GRCm38) Q105L probably null Het
Dsn1 C A 2: 156,996,242 (GRCm38) R334L probably damaging Het
Eml2 G A 7: 19,201,163 (GRCm38) V432I probably damaging Het
Epha8 G T 4: 136,931,743 (GRCm38) H867N probably damaging Het
Ephb3 T C 16: 21,222,031 (GRCm38) L643P probably damaging Het
Fbxo44 G T 4: 148,158,553 (GRCm38) H83Q probably benign Het
Gm13102 T C 4: 144,109,237 (GRCm38) Y477H possibly damaging Het
Gm7347 T C 5: 26,057,278 (GRCm38) T82A probably benign Het
Hepacam A G 9: 37,380,760 (GRCm38) D128G probably benign Het
Hepacam2 C A 6: 3,483,332 (GRCm38) V226F probably damaging Het
Hgfac T C 5: 35,044,395 (GRCm38) Y291H probably damaging Het
Ip6k2 G A 9: 108,797,267 (GRCm38) R88H probably benign Het
Irx5 T A 8: 92,358,250 (GRCm38) Y23N probably damaging Het
Kcnf1 T C 12: 17,175,081 (GRCm38) M380V probably damaging Het
Kcnj1 A T 9: 32,394,104 (GRCm38) probably benign Het
Kcnk12 T C 17: 87,746,736 (GRCm38) E166G probably damaging Het
Kctd16 T C 18: 40,258,943 (GRCm38) C195R probably damaging Het
Kif28 T A 1: 179,699,453 (GRCm38) I718F probably benign Het
Lce1e T A 3: 92,707,933 (GRCm38) K36* probably null Het
Map4 T C 9: 110,034,619 (GRCm38) L304P probably benign Het
Mettl17 C T 14: 51,891,617 (GRCm38) probably benign Het
Mpp4 T C 1: 59,121,359 (GRCm38) D595G probably damaging Het
Myo18a A G 11: 77,841,523 (GRCm38) K1282E probably damaging Het
Nf2 A T 11: 4,816,137 (GRCm38) V131D possibly damaging Het
Or7g35 T C 9: 19,585,434 (GRCm38) V299A probably benign Het
Or8b3 A T 9: 38,403,620 (GRCm38) M249L probably benign Het
Oxsr1 A G 9: 119,264,777 (GRCm38) L270S probably benign Het
Plekhg2 G A 7: 28,362,884 (GRCm38) T536I probably damaging Het
Ppp1r9a T A 6: 4,906,363 (GRCm38) V306D probably benign Het
Ptk6 C T 2: 181,195,812 (GRCm38) C438Y probably benign Het
Scfd1 T C 12: 51,445,678 (GRCm38) V590A probably damaging Het
Serpina1b A G 12: 103,729,272 (GRCm38) S337P probably damaging Het
Skor2 T A 18: 76,858,927 (GRCm38) C115S unknown Het
Slc2a7 T C 4: 150,165,172 (GRCm38) S407P probably damaging Het
Slc8a1 A G 17: 81,648,254 (GRCm38) S452P probably damaging Het
Spata31d1c A G 13: 65,035,079 (GRCm38) D145G possibly damaging Het
Spata6 C A 4: 111,774,827 (GRCm38) T145K probably damaging Het
Stab1 C T 14: 31,141,544 (GRCm38) R2087H probably benign Het
Stk24 C T 14: 121,302,245 (GRCm38) V180M probably benign Het
Trrap A G 5: 144,844,241 (GRCm38) T3271A probably damaging Het
Tyro3 T A 2: 119,816,666 (GRCm38) W755R probably damaging Het
Ush2a T C 1: 188,957,514 (GRCm38) probably null Het
Uts2b T C 16: 27,361,043 (GRCm38) probably null Het
Vmn2r105 T A 17: 20,208,627 (GRCm38) H729L probably damaging Het
Wdfy3 T C 5: 101,851,359 (GRCm38) I3068V probably benign Het
Zfp457 G A 13: 67,293,699 (GRCm38) H175Y probably damaging Het
Zfp758 A G 17: 22,373,731 (GRCm38) D40G probably damaging Het
Other mutations in Gss
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00959:Gss APN 2 155,581,951 (GRCm38) missense probably damaging 1.00
IGL01737:Gss APN 2 155,567,806 (GRCm38) missense probably damaging 1.00
IGL01783:Gss APN 2 155,571,559 (GRCm38) missense probably damaging 1.00
IGL02329:Gss APN 2 155,567,853 (GRCm38) missense probably benign 0.01
IGL02386:Gss APN 2 155,573,170 (GRCm38) missense probably benign 0.01
IGL02948:Gss APN 2 155,577,621 (GRCm38) missense probably damaging 1.00
PIT4515001:Gss UTSW 2 155,578,341 (GRCm38) missense probably damaging 1.00
R0230:Gss UTSW 2 155,578,406 (GRCm38) missense probably damaging 1.00
R0446:Gss UTSW 2 155,567,745 (GRCm38) missense probably benign 0.00
R0931:Gss UTSW 2 155,567,689 (GRCm38) intron probably benign
R1396:Gss UTSW 2 155,567,721 (GRCm38) missense probably damaging 0.99
R2896:Gss UTSW 2 155,564,829 (GRCm38) missense probably damaging 1.00
R2986:Gss UTSW 2 155,587,443 (GRCm38) missense probably benign 0.21
R4852:Gss UTSW 2 155,564,865 (GRCm38) missense probably benign 0.06
R5148:Gss UTSW 2 155,573,109 (GRCm38) missense possibly damaging 0.80
R6574:Gss UTSW 2 155,582,011 (GRCm38) missense probably damaging 1.00
R6868:Gss UTSW 2 155,567,812 (GRCm38) missense possibly damaging 0.69
R8274:Gss UTSW 2 155,587,504 (GRCm38) missense probably benign 0.00
R8510:Gss UTSW 2 155,567,824 (GRCm38) nonsense probably null
R8801:Gss UTSW 2 155,564,766 (GRCm38) missense probably damaging 1.00
R8903:Gss UTSW 2 155,578,359 (GRCm38) missense probably damaging 0.99
R9038:Gss UTSW 2 155,564,874 (GRCm38) missense
Predicted Primers PCR Primer

Sequencing Primer
Posted On 2017-06-26