Incidental Mutation 'R0592:Gstz1'
ID 56032
Institutional Source Beutler Lab
Gene Symbol Gstz1
Ensembl Gene ENSMUSG00000021033
Gene Name glutathione transferase zeta 1 (maleylacetoacetate isomerase)
Synonyms maleylacetoacetate isomerase
MMRRC Submission 038782-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R0592 (G1)
Quality Score 107
Status Validated
Chromosome 12
Chromosomal Location 87193939-87211497 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 87210495 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Asparagine at position 126 (S126N)
Ref Sequence ENSEMBL: ENSMUSP00000152343 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000037418] [ENSMUST00000063117] [ENSMUST00000220574] [ENSMUST00000222222] [ENSMUST00000222885]
AlphaFold Q9WVL0
Predicted Effect probably benign
Transcript: ENSMUST00000037418
SMART Domains Protein: ENSMUSP00000043742
Gene: ENSMUSG00000034111

DomainStartEndE-ValueType
low complexity region 50 65 N/A INTRINSIC
Pfam:GOLD_2 186 325 2.2e-73 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000063117
AA Change: S181N

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000053540
Gene: ENSMUSG00000021033
AA Change: S181N

DomainStartEndE-ValueType
Pfam:GST_N 5 81 4.3e-19 PFAM
Pfam:GST_N_3 8 93 1.2e-18 PFAM
Pfam:GST_N_2 13 82 3.9e-17 PFAM
Pfam:GST_C 99 197 2.5e-6 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000220574
AA Change: S126N

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
Predicted Effect probably benign
Transcript: ENSMUST00000222222
AA Change: S180N

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
Predicted Effect probably benign
Transcript: ENSMUST00000222885
AA Change: S126N

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 98.9%
  • 10x: 97.5%
  • 20x: 95.0%
Validation Efficiency 100% (35/35)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is a member of the glutathione S-transferase (GSTs) super-family which encodes multifunctional enzymes important in the detoxification of electrophilic molecules, including carcinogens, mutagens, and several therapeutic drugs, by conjugation with glutathione. This enzyme catalyzes the conversion of maleylacetoacetate to fumarylacetoacatate, which is one of the steps in the phenylalanine/tyrosine degradation pathway. Deficiency of a similar gene in mouse causes oxidative stress. Several transcript variants of this gene encode multiple protein isoforms. [provided by RefSeq, Jul 2015]
PHENOTYPE: Mice homozygous for disruptions in this gene have essentially normal phenotypes but do display ketoaciduria and severe sensitivity to diets high in tyrosine or phenylalanine. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 35 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Atg2a GCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCC GCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCC 19: 6,295,037 (GRCm39) probably benign Het
Bbs7 A T 3: 36,664,446 (GRCm39) V53D probably benign Het
Bglap T A 3: 88,290,962 (GRCm39) I90F probably benign Het
C2cd4b G A 9: 67,667,973 (GRCm39) R323H probably damaging Het
Cdh5 T A 8: 104,857,534 (GRCm39) probably null Het
Cdh8 T A 8: 100,006,110 (GRCm39) D159V probably damaging Het
Dnah7a A G 1: 53,495,771 (GRCm39) Y3229H possibly damaging Het
Dzip1 T C 14: 119,139,551 (GRCm39) E381G probably damaging Het
Elmod1 A G 9: 53,833,390 (GRCm39) probably benign Het
Exosc10 T C 4: 148,665,570 (GRCm39) S811P probably benign Het
Fhl3 A G 4: 124,599,470 (GRCm39) Y15C probably benign Het
Hey2 C A 10: 30,709,953 (GRCm39) A267S probably benign Het
Iqce A T 5: 140,671,862 (GRCm39) probably null Het
Katnal2 A T 18: 77,090,256 (GRCm39) probably null Het
Kdm2b G A 5: 123,099,197 (GRCm39) probably benign Het
Mov10l1 A G 15: 88,882,969 (GRCm39) probably null Het
Numa1 A G 7: 101,663,104 (GRCm39) T724A probably benign Het
Oas3 A G 5: 120,909,214 (GRCm39) F244S probably damaging Het
Or2d2 G A 7: 106,728,550 (GRCm39) L17F probably benign Het
Or5b117 T C 19: 13,431,069 (GRCm39) I271V probably benign Het
Rab37 T G 11: 115,051,349 (GRCm39) probably benign Het
Riox2 T C 16: 59,309,942 (GRCm39) probably benign Het
Ryr3 A G 2: 112,508,826 (GRCm39) S3358P probably damaging Het
Sash1 T A 10: 8,605,546 (GRCm39) H948L probably benign Het
Serpinb6e T A 13: 34,025,057 (GRCm39) N78I probably damaging Het
Slc25a47 G A 12: 108,820,184 (GRCm39) V63M probably damaging Het
Slc9b1 A T 3: 135,099,835 (GRCm39) probably benign Het
Strip2 T A 6: 29,931,209 (GRCm39) S387T probably benign Het
Tcaf3 T C 6: 42,573,777 (GRCm39) N145S probably benign Het
Tex10 C T 4: 48,456,800 (GRCm39) R637Q probably benign Het
Trmu T C 15: 85,781,027 (GRCm39) probably benign Het
Vezf1 A T 11: 88,068,435 (GRCm38) probably benign Het
Vmn2r116 C T 17: 23,605,889 (GRCm39) T267I probably damaging Het
Whrn C A 4: 63,333,804 (GRCm39) A450S probably damaging Het
Ypel1 A G 16: 16,925,083 (GRCm39) S30P probably benign Het
Other mutations in Gstz1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01019:Gstz1 APN 12 87,210,575 (GRCm39) missense probably damaging 1.00
IGL02090:Gstz1 APN 12 87,210,528 (GRCm39) missense probably benign
R0078:Gstz1 UTSW 12 87,206,477 (GRCm39) missense probably benign 0.13
R3429:Gstz1 UTSW 12 87,210,470 (GRCm39) splice site probably null
R4673:Gstz1 UTSW 12 87,208,837 (GRCm39) missense probably benign 0.08
R4706:Gstz1 UTSW 12 87,205,894 (GRCm39) missense probably benign 0.00
R6026:Gstz1 UTSW 12 87,206,948 (GRCm39) missense probably damaging 0.99
R6938:Gstz1 UTSW 12 87,193,943 (GRCm39) critical splice donor site probably null
R8288:Gstz1 UTSW 12 87,194,604 (GRCm39) start codon destroyed probably null 0.02
R9623:Gstz1 UTSW 12 87,206,923 (GRCm39) missense probably damaging 0.99
X0019:Gstz1 UTSW 12 87,205,870 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- CTGACACCAGAATTCAGAGCCGTC -3'
(R):5'- TGAATCTGCTGCTTCCTGAGGAAAG -3'

Sequencing Primer
(F):5'- GATGTTAGATGATAGCACTCCAGACC -3'
(R):5'- tgtcactcttcttgctgcc -3'
Posted On 2013-07-11