Incidental Mutation 'IGL02386:Gss'
ID291555
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 #IGL02386
Quality Score
Status
Chromosome2
Chromosomal Location155563181-155592810 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 155573170 bp
ZygosityHeterozygous
Amino Acid Change Valine to Alanine at position 205 (V205A)
Ref Sequence ENSEMBL: ENSMUSP00000078630 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000065973] [ENSMUST00000079691] [ENSMUST00000126322] [ENSMUST00000130881] [ENSMUST00000155347]
Predicted Effect silent
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 benign
Transcript: ENSMUST00000079691
AA Change: V205A

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
SMART Domains Protein: ENSMUSP00000078630
Gene: ENSMUSG00000027610
AA Change: V205A

DomainStartEndE-ValueType
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
AA Change: V163A

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000117266
Gene: ENSMUSG00000027610
AA Change: V163A

DomainStartEndE-ValueType
Pfam:GSH_synth_ATP 1 197 1.2e-63 PFAM
Pfam:GSH_synthase 160 200 3.1e-12 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000130881
AA Change: V136A

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000135319
Gene: ENSMUSG00000027610
AA Change: V136A

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: ENSMUST00000148870
Predicted Effect noncoding transcript
Transcript: ENSMUST00000153975
Predicted Effect probably benign
Transcript: ENSMUST00000155347
SMART Domains Protein: ENSMUSP00000122662
Gene: ENSMUSG00000027610

DomainStartEndE-ValueType
Pfam:GSH_synth_ATP 5 179 1.8e-64 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000157008
Predicted Effect probably benign
Transcript: ENSMUST00000175993
Predicted Effect noncoding transcript
Transcript: ENSMUST00000176415
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: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930555F03Rik G A 8: 49,500,437 noncoding transcript Het
Abhd17b T C 19: 21,680,899 Y167H possibly damaging Het
Ablim1 T C 19: 57,134,654 D167G probably damaging Het
Bpnt1 G T 1: 185,338,175 K21N probably damaging Het
Cables2 A G 2: 180,261,638 V251A probably benign Het
Cyp2b13 T C 7: 26,086,013 L269P probably damaging Het
Dhodh A G 8: 109,594,764 I330T probably damaging Het
Dnah5 T A 15: 28,340,381 D2311E probably damaging Het
Dph1 T C 11: 75,183,602 D128G probably benign Het
Dsg1c T A 18: 20,276,999 I508N probably benign Het
Eftud2 T C 11: 102,851,754 probably null Het
Fstl4 T A 11: 52,773,871 H9Q probably benign Het
Glra3 A T 8: 56,089,028 M269L probably benign Het
Gpatch8 C A 11: 102,508,157 R83L unknown Het
Ifi30 A G 8: 70,764,760 probably benign Het
Itch T A 2: 155,202,261 Y495* probably null Het
Lilrb4a C T 10: 51,491,226 Q22* probably null Het
Mest T C 6: 30,744,914 F201S possibly damaging Het
Myh8 T A 11: 67,294,440 I839N probably damaging Het
Myo7a C T 7: 98,075,112 G1122E probably damaging Het
Ntan1 T A 16: 13,835,199 M273K probably benign Het
Numa1 A G 7: 102,007,532 K1548R probably benign Het
Obsl1 A G 1: 75,492,517 V1260A probably damaging Het
Olfr1258 T C 2: 89,930,544 V245A probably damaging Het
Olfr1271 T A 2: 90,265,951 I160F probably damaging Het
Pde10a A G 17: 8,953,804 S669G possibly damaging Het
Ppargc1b T C 18: 61,323,151 D79G probably damaging Het
Rnf103 A G 6: 71,509,218 T278A probably benign Het
Slc22a4 C A 11: 53,988,772 probably benign Het
Snx25 A T 8: 46,041,349 M833K possibly damaging Het
Srrm1 G A 4: 135,325,104 P658L unknown Het
Susd2 A T 10: 75,640,095 Y357N probably damaging Het
Syne4 C A 7: 30,316,234 S91Y possibly damaging Het
Tgfbrap1 C A 1: 43,075,821 G40C probably damaging Het
Tial1 A G 7: 128,448,345 S94P probably damaging Het
Tle3 A G 9: 61,394,659 T117A possibly damaging Het
Usp48 A C 4: 137,604,523 R73S possibly damaging Het
Utrn G T 10: 12,421,608 D685E possibly damaging Het
Other mutations in Gss
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00959:Gss APN 2 155581951 missense probably damaging 1.00
IGL01737:Gss APN 2 155567806 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
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 On2015-04-16