Incidental Mutation 'IGL01737:Gss'
ID105736
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Gss
Ensembl Gene ENSMUSG00000027610
Gene Nameglutathione synthetase
SynonymsGS-A/GS-B
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL01737
Quality Score
Status
Chromosome2
Chromosomal Location155563181-155592810 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 155567806 bp
ZygosityHeterozygous
Amino Acid Change Lysine to Glutamic Acid at position 77 (K77E)
Gene Model predicted gene model for transcript(s): [ENSMUST00000065973] [ENSMUST00000079691] [ENSMUST00000130881]
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: 104,390,135 I524V probably damaging Het
Atxn2 T A 5: 121,797,344 M336K probably damaging Het
Bcr T A 10: 75,154,951 F763Y probably damaging Het
Bdnf A G 2: 109,723,755 Y158C probably damaging Het
Ccdc92 T C 5: 124,835,856 E203G probably damaging Het
Cyp2j12 T C 4: 96,122,658 *72W probably null Het
Def6 G T 17: 28,223,727 R288L possibly damaging Het
Foxn1 T G 11: 78,360,906 S500R possibly damaging Het
Habp2 G A 19: 56,316,307 G410D probably benign Het
Krt36 A T 11: 100,104,120 C209S possibly damaging Het
Mmrn1 T C 6: 60,977,161 F809L probably benign Het
Mptx2 C A 1: 173,274,841 V94F probably damaging Het
Myh4 G T 11: 67,243,419 probably benign Het
N4bp2l1 G T 5: 150,594,316 H41N possibly damaging Het
Ndnf T A 6: 65,703,555 S273T probably benign Het
Nt5c1b A T 12: 10,390,108 Y624F possibly damaging Het
Prss8 C T 7: 127,926,580 V256M probably damaging Het
Ramp1 T C 1: 91,223,099 probably benign Het
Sf3b2 A G 19: 5,279,838 probably benign Het
Tfdp2 G A 9: 96,300,412 R235Q possibly damaging Het
Tle1 C T 4: 72,197,821 probably benign Het
Tmprss11e A G 5: 86,719,734 V159A probably damaging Het
Trim12c A G 7: 104,348,062 C96R probably damaging Het
Usp24 A G 4: 106,387,734 D1256G probably benign Het
Other mutations in Gss
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00959:Gss APN 2 155581951 missense probably damaging 1.00
IGL01783:Gss APN 2 155571559 missense probably damaging 1.00
IGL02329:Gss APN 2 155567853 missense probably benign 0.01
IGL02386:Gss APN 2 155573170 missense probably benign 0.01
IGL02948:Gss APN 2 155577621 missense probably damaging 1.00
PIT4515001:Gss UTSW 2 155578341 missense probably damaging 1.00
R0230:Gss UTSW 2 155578406 missense probably damaging 1.00
R0446:Gss UTSW 2 155567745 missense probably benign 0.00
R0931:Gss UTSW 2 155567689 intron probably benign
R1396:Gss UTSW 2 155567721 missense probably damaging 0.99
R2896:Gss UTSW 2 155564829 missense probably damaging 1.00
R2986:Gss UTSW 2 155587443 missense probably benign 0.21
R4852:Gss UTSW 2 155564865 missense probably benign 0.06
R5148:Gss UTSW 2 155573109 missense possibly damaging 0.80
R6017:Gss UTSW 2 155587465 missense probably benign
R6574:Gss UTSW 2 155582011 missense probably damaging 1.00
R6868:Gss UTSW 2 155567812 missense possibly damaging 0.69
R8274:Gss UTSW 2 155587504 missense probably benign 0.00
Posted On2014-01-21