Mutagenetix > Incidental Mutation

Incidental Mutation 'R6026:Gstz1'

480064

Institutional Source

Beutler Lab

Gene Symbol

Gstz1

Ensembl Gene

ENSMUSG00000021033

Gene Name

glutathione transferase zeta 1 (maleylacetoacetate isomerase)

Synonyms

maleylacetoacetate isomerase

MMRRC Submission

044198-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6026 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

87193939-87211497 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 87206948 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Proline at position 114 (Q114P)

Ref Sequence

ENSEMBL: ENSMUSP00000053540 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000063117] [ENSMUST00000220574] [ENSMUST00000222222] [ENSMUST00000222885]

AlphaFold

Q9WVL0

PDB Structure

Crystal structure of glutathione transferase zeta 1-1 (maleylacetoacetate isomerase) from Mus musculus (form-1 crystal) [X-RAY DIFFRACTION]
Crystal structure of glutathione transferase zeta 1-1 (maleylacetoacetate isomerase) from Mus musculus (form-2 crystal) [X-RAY DIFFRACTION]

Predicted Effect

probably damaging
Transcript: ENSMUST00000063117
AA Change: Q114P

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000053540
Gene: ENSMUSG00000021033
AA Change: Q114P

Domain	Start	End	E-Value	Type
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

noncoding transcript
Transcript: ENSMUST00000220468

Predicted Effect

probably damaging
Transcript: ENSMUST00000220574
AA Change: Q59P

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000221468

Predicted Effect

probably damaging
Transcript: ENSMUST00000222222
AA Change: Q113P

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)

Predicted Effect

probably damaging
Transcript: ENSMUST00000222885
AA Change: Q59P

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)

Meta Mutation Damage Score

0.5989

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 97.9%
20x: 93.5%

Validation Efficiency

97% (73/75)

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: 74 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1810065E05Rik	A	G	11: 58,316,581 (GRCm39)	D187G	probably benign	Het
4933421I07Rik	A	T	7: 42,095,708 (GRCm39)	M180K	probably benign	Het
Aatk	T	C	11: 119,903,190 (GRCm39)	H345R	possibly damaging	Het
Abcc8	T	C	7: 45,816,424 (GRCm39)	T239A	probably benign	Het
Abcf3	A	G	16: 20,369,320 (GRCm39)	E234G	probably damaging	Het
Actrt2	T	C	4: 154,751,047 (GRCm39)	D363G	possibly damaging	Het
Adam1a	A	T	5: 121,657,425 (GRCm39)	C623S	probably damaging	Het
Afg3l2	G	T	18: 67,554,329 (GRCm39)	L458M	probably damaging	Het
Ash1l	T	C	3: 88,892,326 (GRCm39)	Y1402H	probably damaging	Het
Barhl2	T	A	5: 106,603,474 (GRCm39)	K228N	probably benign	Het
Blvrb	A	G	7: 27,162,115 (GRCm39)	H153R	probably damaging	Het
Capn9	A	G	8: 125,332,601 (GRCm39)	D480G	probably damaging	Het
Cct3	T	C	3: 88,219,029 (GRCm39)	I182T	possibly damaging	Het
Clasp2	A	G	9: 113,740,646 (GRCm39)	N1208D	probably benign	Het
Col26a1	A	G	5: 136,876,354 (GRCm39)	C89R	probably damaging	Het
Cops4	T	A	5: 100,690,194 (GRCm39)		probably benign	Het
Cpox	T	A	16: 58,491,298 (GRCm39)	W170R	probably damaging	Het
Ddx27	A	G	2: 166,875,560 (GRCm39)	K656E	probably benign	Het
Eif4e	T	C	3: 138,256,661 (GRCm39)	I66T	probably damaging	Het
Ercc3	T	C	18: 32,378,974 (GRCm39)		probably null	Het
Esp38	G	A	17: 40,266,032 (GRCm39)	C47Y	probably damaging	Het
Fancd2	T	C	6: 113,528,731 (GRCm39)	V380A	possibly damaging	Het
Fbxw7	T	A	3: 84,859,948 (GRCm39)		probably null	Het
Fryl	T	G	5: 73,257,340 (GRCm39)	R736S	probably benign	Het
Gad2	G	A	2: 22,513,748 (GRCm39)	V62M	probably benign	Het
Gigyf2	A	G	1: 87,368,454 (GRCm39)	T1045A	probably damaging	Het
Gm13090	T	A	4: 151,175,157 (GRCm39)	L78*	probably null	Het
Gm19410	G	A	8: 36,279,580 (GRCm39)	S1815N	probably benign	Het
Gm28051	A	T	12: 102,686,444 (GRCm39)	L72Q	unknown	Het
Gm44511	T	C	6: 128,797,240 (GRCm39)	T83A	possibly damaging	Het
Grk2	C	T	19: 4,340,811 (GRCm39)	V246I	probably damaging	Het
Grm7	C	T	6: 111,478,500 (GRCm39)	Q62*	probably null	Het
Gsdmc3	T	A	15: 63,738,600 (GRCm39)	E154V	probably damaging	Het
Hax1	GTCATCATCATCATCATC	GTCATCATCATCATCATCATC	3: 89,905,247 (GRCm39)		probably benign	Het
Hhip	A	T	8: 80,699,069 (GRCm39)	C666S	probably damaging	Het
Hif1a	A	C	12: 73,979,055 (GRCm39)	H193P	probably damaging	Het
Hyal2	A	G	9: 107,449,398 (GRCm39)	T385A	probably benign	Het
Ihh	T	C	1: 74,985,886 (GRCm39)	T200A	probably benign	Het
Iqgap3	T	A	3: 87,997,478 (GRCm39)	V218E	probably damaging	Het
Lct	A	G	1: 128,227,755 (GRCm39)	I1246T	probably benign	Het
Lmo7	T	C	14: 102,118,426 (GRCm39)	V217A	probably benign	Het
Lrp1	C	T	10: 127,409,272 (GRCm39)	D1616N	probably damaging	Het
Lrrfip2	A	T	9: 111,043,239 (GRCm39)	T165S	probably damaging	Het
Morc2b	A	G	17: 33,356,957 (GRCm39)	Y272H	possibly damaging	Het
Muc16	A	G	9: 18,571,154 (GRCm39)	M455T	unknown	Het
Ncapg2	A	T	12: 116,406,641 (GRCm39)	D939V	possibly damaging	Het
Ncbp3	T	C	11: 72,958,548 (GRCm39)	V236A	probably benign	Het
Obscn	T	A	11: 58,957,916 (GRCm39)	T3595S	probably damaging	Het
Odf2l	T	C	3: 144,854,797 (GRCm39)	S545P	possibly damaging	Het
Or3a1	T	A	11: 74,225,914 (GRCm39)	I48F	probably damaging	Het
Or8b36	ATTGCTGTTT	ATTGCTGTTTGCTGTTT	9: 37,937,836 (GRCm39)		probably null	Het
Pdzrn3	A	C	6: 101,339,105 (GRCm39)	C269G	probably benign	Het
Pear1	T	A	3: 87,664,220 (GRCm39)	N278Y	probably damaging	Het
Phb1	C	T	11: 95,562,245 (GRCm39)	R41*	probably null	Het
Pikfyve	T	C	1: 65,311,856 (GRCm39)	V2031A	probably damaging	Het
Plxna2	A	G	1: 194,482,122 (GRCm39)	I1465V	probably damaging	Het
Ppp6r2	A	G	15: 89,167,113 (GRCm39)	N776S	probably benign	Het
Prkce	A	T	17: 86,800,658 (GRCm39)	E358V	probably benign	Het
Prl5a1	A	T	13: 28,335,247 (GRCm39)	I219F	probably benign	Het
Prss3	T	C	6: 41,354,488 (GRCm39)		probably null	Het
Ptprc	A	T	1: 137,998,987 (GRCm39)	M858K	probably damaging	Het
Retreg3	T	C	11: 100,997,226 (GRCm39)	T85A	probably damaging	Het
Rfc2	T	A	5: 134,624,185 (GRCm39)	C265S	probably damaging	Het
Smarcd1	G	T	15: 99,603,619 (GRCm39)	V256L	probably damaging	Het
Stat5a	T	C	11: 100,771,142 (GRCm39)	F574L	probably damaging	Het
Tcirg1	T	C	19: 3,947,487 (GRCm39)	H624R	probably benign	Het
Tcstv1a	C	A	13: 120,355,987 (GRCm39)		probably benign	Het
Tenm2	C	T	11: 35,963,556 (GRCm39)		probably null	Het
Tomm40	A	G	7: 19,444,889 (GRCm39)	V164A	probably benign	Het
Txnl4a	T	C	18: 80,250,482 (GRCm39)	V26A	probably damaging	Het
Ugt2a3	A	T	5: 87,484,336 (GRCm39)	F229L	probably benign	Het
Utp20	T	C	10: 88,604,541 (GRCm39)	T1785A	probably benign	Het
Vmn1r22	T	A	6: 57,877,390 (GRCm39)	I196L	probably benign	Het
Zfp652	T	G	11: 95,640,788 (GRCm39)	C238G	possibly damaging	Het

Other mutations in Gstz1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH 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
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
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'- TCTGGTCCAGGGATTCCAAG -3'
(R):5'- ATCTTTATGCTCCCAGGCTTAG -3'

Sequencing Primer
(F):5'- GGATTCCAAGCCCTCTCCCTG -3'
(R):5'- ATGGAAGACTTCTGGGATCCC -3'

Posted On

2017-06-26