Incidental Mutation 'R1396:Gss'
ID 162628
Institutional Source Beutler Lab
Gene Symbol Gss
Ensembl Gene ENSMUSG00000027610
Gene Name glutathione synthetase
Synonyms GS-A/GS-B
MMRRC Submission 039458-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R1396 (G1)
Quality Score 225
Status Not validated
Chromosome 2
Chromosomal Location 155405101-155434730 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 155409641 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Isoleucine at position 265 (T265I)
Ref Sequence ENSEMBL: ENSMUSP00000135319 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029135] [ENSMUST00000065973] [ENSMUST00000079691] [ENSMUST00000130881]
AlphaFold P51855
Predicted Effect probably benign
Transcript: ENSMUST00000029135
SMART Domains Protein: ENSMUSP00000029135
Gene: ENSMUSG00000027605

DomainStartEndE-ValueType
Pfam:AMP-binding 108 575 1.9e-96 PFAM
Pfam:AMP-binding_C 583 661 2.4e-21 PFAM
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: T334I

PolyPhen 2 Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000078630
Gene: ENSMUSG00000027610
AA Change: T334I

DomainStartEndE-ValueType
Pfam:GSH_synth_ATP 12 472 6.7e-131 PFAM
Pfam:GSH_synthase 204 302 2.5e-36 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000130881
AA Change: T265I

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000135319
Gene: ENSMUSG00000027610
AA Change: T265I

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 benign
Transcript: ENSMUST00000175993
Coding Region Coverage
  • 1x: 98.9%
  • 3x: 98.0%
  • 10x: 95.3%
  • 20x: 89.4%
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: 57 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930486L24Rik G A 13: 61,001,057 (GRCm39) P160S probably benign Het
Adamts12 G T 15: 11,311,558 (GRCm39) D1272Y probably benign Het
Akr1c20 A T 13: 4,557,726 (GRCm39) V267D probably damaging Het
C1s1 A G 6: 124,508,010 (GRCm39) S660P probably damaging Het
Ccdc202 A G 14: 96,119,987 (GRCm39) N248S probably benign Het
Ccdc40 A G 11: 119,122,629 (GRCm39) T144A possibly damaging Het
Cdk20 T C 13: 64,585,217 (GRCm39) I167T probably damaging Het
Chd6 A G 2: 160,825,023 (GRCm39) L1212S probably damaging Het
Clock G C 5: 76,414,649 (GRCm39) D15E probably benign Het
Clstn2 A G 9: 97,343,446 (GRCm39) V667A probably benign Het
Cr2 A T 1: 194,851,561 (GRCm39) probably null Het
Cyp2e1 A G 7: 140,352,992 (GRCm39) D343G probably damaging Het
Dync1h1 G A 12: 110,602,943 (GRCm39) E2195K probably benign Het
Etf1 G A 18: 35,041,220 (GRCm39) T298I possibly damaging Het
Gm5431 T C 11: 48,786,261 (GRCm39) probably benign Het
Heatr1 C T 13: 12,420,927 (GRCm39) S406L possibly damaging Het
Hgsnat C A 8: 26,447,363 (GRCm39) M310I possibly damaging Het
Inpp5b G A 4: 124,682,873 (GRCm39) R598H probably damaging Het
Ints2 G T 11: 86,140,074 (GRCm39) Q253K probably damaging Het
Kng1 A G 16: 22,897,730 (GRCm39) M377V probably benign Het
Krt72 C T 15: 101,694,440 (GRCm39) probably null Het
Lemd2 G C 17: 27,409,706 (GRCm39) R482G probably damaging Het
Lrpprc C T 17: 85,033,731 (GRCm39) D1049N possibly damaging Het
Lrrc49 A T 9: 60,587,810 (GRCm39) H117Q probably damaging Het
Mcm6 A T 1: 128,279,213 (GRCm39) F191Y probably damaging Het
Mecom T C 3: 30,033,949 (GRCm39) T252A possibly damaging Het
Mgat4e T C 1: 134,469,271 (GRCm39) T258A probably benign Het
Mpeg1 A G 19: 12,440,168 (GRCm39) N542S probably damaging Het
Nln C T 13: 104,198,261 (GRCm39) V184I probably benign Het
Nova1 A C 12: 46,863,676 (GRCm39) F91L unknown Het
Polk T C 13: 96,620,716 (GRCm39) I516V probably benign Het
Ppig C T 2: 69,579,362 (GRCm39) P357S unknown Het
Ptpro T A 6: 137,420,592 (GRCm39) V1007D probably damaging Het
Rasal2 A T 1: 156,992,236 (GRCm39) H552Q probably damaging Het
Rnf41 G A 10: 128,271,440 (GRCm39) E117K probably benign Het
Sbk3 A G 7: 4,970,452 (GRCm39) Y306H possibly damaging Het
Senp1 A G 15: 97,974,435 (GRCm39) S126P probably benign Het
Sfr1 A G 19: 47,722,129 (GRCm39) K182E probably benign Het
Slc25a4 C A 8: 46,662,325 (GRCm39) R111L probably damaging Het
Slc9c1 A T 16: 45,393,710 (GRCm39) Y551F probably benign Het
Stard4 A T 18: 33,339,263 (GRCm39) N80K probably damaging Het
Tbk1 G A 10: 121,407,821 (GRCm39) T104M probably damaging Het
Tedc2 C A 17: 24,435,292 (GRCm39) E366* probably null Het
Tedc2 T A 17: 24,435,291 (GRCm39) E366V probably damaging Het
Tmem102 A T 11: 69,695,196 (GRCm39) W259R probably damaging Het
Tnk1 A T 11: 69,743,962 (GRCm39) C466S probably benign Het
Tspoap1 A C 11: 87,656,946 (GRCm39) Q307P probably damaging Het
Ugt2b35 A G 5: 87,159,389 (GRCm39) N528D possibly damaging Het
Usp6nl A G 2: 6,431,809 (GRCm39) probably null Het
Vmn1r203 C T 13: 22,708,678 (GRCm39) T153M probably benign Het
Vmn1r89 T A 7: 12,953,938 (GRCm39) S157T probably damaging Het
Vmn2r103 A T 17: 20,013,230 (GRCm39) Y117F probably benign Het
Vmn2r116 A C 17: 23,605,115 (GRCm39) M143L probably benign Het
Vmn2r62 A T 7: 42,414,261 (GRCm39) D727E probably damaging Het
Vps13c A G 9: 67,862,304 (GRCm39) I2974V probably benign Het
Wrn C T 8: 33,758,847 (GRCm39) G769D probably damaging Het
Zhx3 T A 2: 160,622,940 (GRCm39) H409L possibly damaging Het
Other mutations in Gss
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00959:Gss APN 2 155,423,871 (GRCm39) missense probably damaging 1.00
IGL01737:Gss APN 2 155,409,726 (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
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
Predicted Primers PCR Primer
(F):5'- ATCATCACCATTGCTGAGGGAGTTG -3'
(R):5'- GGAAGCACGCCTGATGCTAGAG -3'

Sequencing Primer
(F):5'- gctcttaccttgatgataatggatg -3'
(R):5'- CAAGTGTCCAGACATTGCCA -3'
Posted On 2014-03-17