Incidental Mutation 'IGL01737:Gss'
ID 105736
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Gss
Ensembl Gene ENSMUSG00000027610
Gene Name glutathione synthetase
Synonyms GS-A/GS-B
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL01737
Quality Score
Status
Chromosome 2
Chromosomal Location 155405101-155434730 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 155409726 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Lysine to Glutamic Acid at position 77 (K77E)
Gene Model predicted gene model for transcript(s): [ENSMUST00000065973] [ENSMUST00000079691] [ENSMUST00000130881]
AlphaFold P51855
Predicted Effect probably benign
Transcript: ENSMUST00000065973
SMART Domains Protein: ENSMUSP00000068776
Gene: ENSMUSG00000027605

DomainStartEndE-ValueType
Pfam:AMP-binding 108 575 4.8e-98 PFAM
Pfam:AMP-binding_C 583 660 3.1e-21 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000079691
AA Change: K306E

PolyPhen 2 Score 0.958 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000078630
Gene: ENSMUSG00000027610
AA Change: K306E

DomainStartEndE-ValueType
Pfam:GSH_synth_ATP 12 472 6.7e-131 PFAM
Pfam:GSH_synthase 204 302 2.5e-36 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000130881
AA Change: K237E

PolyPhen 2 Score 0.844 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000135319
Gene: ENSMUSG00000027610
AA Change: K237E

DomainStartEndE-ValueType
Pfam:GSH_synth_ATP 1 404 9.2e-130 PFAM
Pfam:GSH_synthase 133 233 9e-38 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000140860
Predicted Effect noncoding transcript
Transcript: ENSMUST00000153975
Predicted Effect probably damaging
Transcript: ENSMUST00000175993
AA Change: K77E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Coding Region Coverage
Validation Efficiency
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: 24 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts6 A G 13: 104,526,643 (GRCm39) I524V probably damaging Het
Atxn2 T A 5: 121,935,407 (GRCm39) M336K probably damaging Het
Bcr T A 10: 74,990,783 (GRCm39) F763Y probably damaging Het
Bdnf A G 2: 109,554,100 (GRCm39) Y158C probably damaging Het
Ccdc92 T C 5: 124,912,920 (GRCm39) E203G probably damaging Het
Cyp2j12 T C 4: 96,010,895 (GRCm39) *72W probably null Het
Def6 G T 17: 28,442,701 (GRCm39) R288L possibly damaging Het
Foxn1 T G 11: 78,251,732 (GRCm39) S500R possibly damaging Het
Habp2 G A 19: 56,304,739 (GRCm39) G410D probably benign Het
Krt36 A T 11: 99,994,946 (GRCm39) C209S possibly damaging Het
Mmrn1 T C 6: 60,954,145 (GRCm39) F809L probably benign Het
Mptx2 C A 1: 173,102,408 (GRCm39) V94F probably damaging Het
Myh4 G T 11: 67,134,245 (GRCm39) probably benign Het
N4bp2l1 G T 5: 150,517,781 (GRCm39) H41N possibly damaging Het
Ndnf T A 6: 65,680,539 (GRCm39) S273T probably benign Het
Nt5c1b A T 12: 10,440,108 (GRCm39) Y624F possibly damaging Het
Prss8 C T 7: 127,525,752 (GRCm39) V256M probably damaging Het
Ramp1 T C 1: 91,150,821 (GRCm39) probably benign Het
Sf3b2 A G 19: 5,329,866 (GRCm39) probably benign Het
Tfdp2 G A 9: 96,182,465 (GRCm39) R235Q possibly damaging Het
Tle1 C T 4: 72,116,058 (GRCm39) probably benign Het
Tmprss11e A G 5: 86,867,593 (GRCm39) V159A probably damaging Het
Trim12c A G 7: 103,997,269 (GRCm39) C96R probably damaging Het
Usp24 A G 4: 106,244,931 (GRCm39) D1256G probably benign Het
Other mutations in Gss
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00959:Gss APN 2 155,423,871 (GRCm39) missense probably damaging 1.00
IGL01783:Gss APN 2 155,413,479 (GRCm39) missense probably damaging 1.00
IGL02329:Gss APN 2 155,409,773 (GRCm39) missense probably benign 0.01
IGL02386:Gss APN 2 155,415,090 (GRCm39) missense probably benign 0.01
IGL02948:Gss APN 2 155,419,541 (GRCm39) missense probably damaging 1.00
PIT4515001:Gss UTSW 2 155,420,261 (GRCm39) missense probably damaging 1.00
R0230:Gss UTSW 2 155,420,326 (GRCm39) missense probably damaging 1.00
R0446:Gss UTSW 2 155,409,665 (GRCm39) missense probably benign 0.00
R0931:Gss UTSW 2 155,409,609 (GRCm39) intron probably benign
R1396:Gss UTSW 2 155,409,641 (GRCm39) missense probably damaging 0.99
R2896:Gss UTSW 2 155,406,749 (GRCm39) missense probably damaging 1.00
R2986:Gss UTSW 2 155,429,363 (GRCm39) missense probably benign 0.21
R4852:Gss UTSW 2 155,406,785 (GRCm39) missense probably benign 0.06
R5148:Gss UTSW 2 155,415,029 (GRCm39) missense possibly damaging 0.80
R6017:Gss UTSW 2 155,429,385 (GRCm39) missense probably benign
R6574:Gss UTSW 2 155,423,931 (GRCm39) missense probably damaging 1.00
R6868:Gss UTSW 2 155,409,732 (GRCm39) missense possibly damaging 0.69
R8274:Gss UTSW 2 155,429,424 (GRCm39) missense probably benign 0.00
R8510:Gss UTSW 2 155,409,744 (GRCm39) nonsense probably null
R8801:Gss UTSW 2 155,406,686 (GRCm39) missense probably damaging 1.00
R8903:Gss UTSW 2 155,420,279 (GRCm39) missense probably damaging 0.99
R9038:Gss UTSW 2 155,406,794 (GRCm39) missense
Posted On 2014-01-21