Incidental Mutation 'R4673:Gstz1'
ID 348637
Institutional Source Beutler Lab
Gene Symbol Gstz1
Ensembl Gene ENSMUSG00000021033
Gene Name glutathione transferase zeta 1 (maleylacetoacetate isomerase)
Synonyms maleylacetoacetate isomerase
MMRRC Submission 041928-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R4673 (G1)
Quality Score 225
Status Not validated
Chromosome 12
Chromosomal Location 87193939-87211497 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 87208837 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Serine at position 148 (T148S)
Ref Sequence ENSEMBL: ENSMUSP00000152707 (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: T149S

PolyPhen 2 Score 0.059 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000053540
Gene: ENSMUSG00000021033
AA Change: T149S

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: T94S

PolyPhen 2 Score 0.048 (Sensitivity: 0.94; Specificity: 0.83)
Predicted Effect probably benign
Transcript: ENSMUST00000222222
AA Change: T148S

PolyPhen 2 Score 0.082 (Sensitivity: 0.93; Specificity: 0.85)
Predicted Effect probably benign
Transcript: ENSMUST00000222885
AA Change: T94S

PolyPhen 2 Score 0.048 (Sensitivity: 0.94; Specificity: 0.83)
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 95.2%
Validation Efficiency
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: 65 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam32 T C 8: 25,374,471 (GRCm39) E507G probably damaging Het
Adam39 C T 8: 41,277,768 (GRCm39) T53I probably benign Het
Adam4 A T 12: 81,468,535 (GRCm39) S29T possibly damaging Het
Adamdec1 C A 14: 68,815,353 (GRCm39) E104* probably null Het
Alas1 G T 9: 106,113,676 (GRCm39) P523Q probably damaging Het
Aldh3a1 A G 11: 61,104,320 (GRCm39) D69G probably benign Het
Arhgap29 T A 3: 121,808,620 (GRCm39) V1266E probably damaging Het
Bcdin3d T C 15: 99,368,719 (GRCm39) D160G probably damaging Het
Btaf1 T A 19: 36,955,772 (GRCm39) F569I probably benign Het
Cacna1b A G 2: 24,521,956 (GRCm39) L1718S probably damaging Het
Casd1 A G 6: 4,629,975 (GRCm39) Y457C probably damaging Het
Creb3 T C 4: 43,563,192 (GRCm39) V97A probably benign Het
Cux2 G T 5: 122,025,539 (GRCm39) S43* probably null Het
Fhip1a A T 3: 85,638,020 (GRCm39) V93D probably damaging Het
Fsbp T G 4: 11,579,841 (GRCm39) N36K probably benign Het
Gm11565 A G 11: 99,806,040 (GRCm39) D144G probably benign Het
Gpn3 A G 5: 122,511,981 (GRCm39) Y19C probably damaging Het
Gtf3c5 A G 2: 28,462,236 (GRCm39) I282T probably benign Het
Hspa2 T A 12: 76,452,514 (GRCm39) S403T possibly damaging Het
Il27 G A 7: 126,190,251 (GRCm39) T121I possibly damaging Het
Itpr2 A G 6: 146,274,671 (GRCm39) F837S probably damaging Het
Kctd1 T A 18: 15,196,284 (GRCm39) probably benign Het
Kynu A G 2: 43,569,815 (GRCm39) T366A probably damaging Het
Lama5 G A 2: 179,841,059 (GRCm39) T507I probably damaging Het
Myh11 C T 16: 14,087,105 (GRCm39) V124M probably damaging Het
Myh14 T A 7: 44,273,754 (GRCm39) H1331L probably damaging Het
Myh2 T A 11: 67,079,303 (GRCm39) L957Q probably damaging Het
Myh4 T C 11: 67,137,227 (GRCm39) F483L probably benign Het
Nbeal1 A C 1: 60,368,549 (GRCm39) K2631N probably damaging Het
Ofcc1 G A 13: 40,168,864 (GRCm39) T841I probably damaging Het
Ogg1 T C 6: 113,304,268 (GRCm39) C28R probably damaging Het
Or13c7c T C 4: 43,836,430 (GRCm39) H20R probably benign Het
Or5b24 G A 19: 12,912,461 (GRCm39) A120T probably damaging Het
Or5k17 C T 16: 58,746,053 (GRCm39) V294I possibly damaging Het
Or6e1 C T 14: 54,519,789 (GRCm39) A188T possibly damaging Het
Or7g35 A G 9: 19,496,726 (GRCm39) K298E possibly damaging Het
Parp6 G C 9: 59,547,393 (GRCm39) R460P probably damaging Het
Phf14 A G 6: 11,992,056 (GRCm39) H744R probably damaging Het
Pibf1 A G 14: 99,370,787 (GRCm39) N263S possibly damaging Het
Plcb4 A G 2: 135,774,191 (GRCm39) T158A possibly damaging Het
Plce1 T C 19: 38,737,840 (GRCm39) S1615P possibly damaging Het
Plxna3 T G X: 73,382,554 (GRCm39) probably null Het
Rad54b T A 4: 11,609,449 (GRCm39) H633Q probably benign Het
Rgs22 T A 15: 36,100,079 (GRCm39) Y212F probably benign Het
Rnd3 G A 2: 51,022,553 (GRCm39) A163V probably benign Het
Rnf10 A T 5: 115,389,148 (GRCm39) V315E probably damaging Het
Robo2 C T 16: 73,701,266 (GRCm39) probably null Het
Rp1l1 T G 14: 64,268,719 (GRCm39) V1435G probably damaging Het
Scaf8 T A 17: 3,248,260 (GRCm39) D1194E probably benign Het
Septin12 T C 16: 4,809,807 (GRCm39) T198A probably damaging Het
Shisa2 A G 14: 59,867,629 (GRCm39) T294A probably damaging Het
Spta1 A G 1: 174,018,628 (GRCm39) probably null Het
Strbp A T 2: 37,535,691 (GRCm39) S6T probably damaging Het
Syf2 A G 4: 134,661,804 (GRCm39) E56G probably damaging Het
Thap4 T C 1: 93,642,588 (GRCm39) probably benign Het
Tnfaip3 T C 10: 18,887,580 (GRCm39) probably benign Het
Tnxb A G 17: 34,891,514 (GRCm39) E619G probably damaging Het
Tpr G A 1: 150,299,318 (GRCm39) A1173T probably benign Het
Tspan3 G A 9: 56,043,980 (GRCm39) R240W probably damaging Het
Tut7 G T 13: 59,944,659 (GRCm39) T658K probably damaging Het
Ubr4 C T 4: 139,138,027 (GRCm39) S1128L probably damaging Het
Ucp1 T C 8: 84,021,876 (GRCm39) V236A probably damaging Het
Usp34 TCACCACCACCACCACCACCACCACCAC TCACCACCACCACCACCACCACCAC 11: 23,314,480 (GRCm39) probably benign Het
Zfp940 T C 7: 29,544,863 (GRCm39) D348G probably benign Het
Zpld2 G A 4: 133,927,658 (GRCm39) A365V 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
R0592:Gstz1 UTSW 12 87,210,495 (GRCm39) missense probably benign
R3429:Gstz1 UTSW 12 87,210,470 (GRCm39) splice site probably null
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'- GCATGGCTTGTCTATTCTGAGAC -3'
(R):5'- GAATGAGCTGAGGCATTTCCAC -3'

Sequencing Primer
(F):5'- TCTATTCTGAGACTAGACAGGGAAGC -3'
(R):5'- TGAGGCATTTCCACAAACTGACTG -3'
Posted On 2015-10-08