Mutagenetix > Incidental Mutation

Incidental Mutation 'R3429:Gstz1'

268024

Institutional Source

Beutler Lab

Gene Symbol

Gstz1

Ensembl Gene

ENSMUSG00000021033

Gene Name

glutathione transferase zeta 1 (maleylacetoacetate isomerase)

Synonyms

maleylacetoacetate isomerase

MMRRC Submission

040647-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R3429 (G1)

Quality Score

173

Status

Validated

Chromosome

Chromosomal Location

87193939-87211497 bp(+) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

T to A at 87210470 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000152343 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000037418] [ENSMUST00000063117] [ENSMUST00000063117] [ENSMUST00000220574] [ENSMUST00000220574] [ENSMUST00000222222] [ENSMUST00000222222] [ENSMUST00000222885] [ENSMUST00000222885]

AlphaFold

Q9WVL0

Predicted Effect

probably benign
Transcript: ENSMUST00000037418

SMART Domains

Protein: ENSMUSP00000043742
Gene: ENSMUSG00000034111

Domain	Start	End	E-Value	Type
low complexity region	50	65	N/A	INTRINSIC
Pfam:GOLD_2	186	325	2.2e-73	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000063117

SMART Domains

Protein: ENSMUSP00000053540
Gene: ENSMUSG00000021033

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

probably null
Transcript: ENSMUST00000063117

SMART Domains

Protein: ENSMUSP00000053540
Gene: ENSMUSG00000021033

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

probably null
Transcript: ENSMUST00000220574

Predicted Effect

probably null
Transcript: ENSMUST00000220574

Predicted Effect

probably null
Transcript: ENSMUST00000222222

Predicted Effect

probably null
Transcript: ENSMUST00000222222

Predicted Effect

probably null
Transcript: ENSMUST00000222885

Predicted Effect

probably null
Transcript: ENSMUST00000222885

Meta Mutation Damage Score

0.9755

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 96.9%
20x: 93.7%

Validation Efficiency

98% (65/66)

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: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A2m	T	A	6: 121,613,249 (GRCm39)	M1K	probably null	Het
Afap1l2	C	A	19: 56,904,238 (GRCm39)	R683L	probably damaging	Het
Ankfy1	C	T	11: 72,602,980 (GRCm39)		probably benign	Het
Aoc1	A	T	6: 48,883,010 (GRCm39)	E295D	probably benign	Het
Asah1	C	T	8: 41,804,925 (GRCm39)		probably benign	Het
B4galnt4	T	C	7: 140,650,752 (GRCm39)	L842P	probably damaging	Het
Bhmt	T	C	13: 93,763,855 (GRCm39)	E62G	probably damaging	Het
Btbd10	T	A	7: 112,951,016 (GRCm39)	R25*	probably null	Het
Cdh5	T	A	8: 104,857,600 (GRCm39)	I342N	possibly damaging	Het
Clca3a2	T	A	3: 144,512,088 (GRCm39)	E109D	probably benign	Het
Cntrl	T	C	2: 35,035,112 (GRCm39)	L913S	probably damaging	Het
Col12a1	T	A	9: 79,587,593 (GRCm39)	T1183S	probably benign	Het
Col6a6	A	T	9: 105,655,166 (GRCm39)	Y852N	probably damaging	Het
Cpeb2	T	C	5: 43,438,573 (GRCm39)		probably null	Het
Cyp2c66	T	A	19: 39,151,892 (GRCm39)	N202K	probably damaging	Het
Dchs1	A	G	7: 105,405,711 (GRCm39)	V2391A	possibly damaging	Het
Dgat2	A	G	7: 98,806,300 (GRCm39)	V299A	probably benign	Het
Dnah6	G	A	6: 73,098,797 (GRCm39)	S2034L	possibly damaging	Het
Eps8l2	G	A	7: 140,937,832 (GRCm39)		probably null	Het
Fgg	T	A	3: 82,920,090 (GRCm39)	F290I	probably damaging	Het
Filip1	A	T	9: 79,760,952 (GRCm39)	M194K	probably damaging	Het
Foxl2	T	C	9: 98,838,035 (GRCm39)	F108L	probably damaging	Het
Fut1	T	C	7: 45,268,798 (GRCm39)	F196L	probably damaging	Het
Gm10323	A	C	13: 67,002,888 (GRCm39)	W17G	probably damaging	Het
Hacd1	T	C	2: 14,049,586 (GRCm39)		probably benign	Het
Hmcn2	T	A	2: 31,299,156 (GRCm39)	L2834Q	possibly damaging	Het
Hs3st3a1	C	T	11: 64,327,148 (GRCm39)	R86W	probably benign	Het
Krtap1-4	G	C	11: 99,474,020 (GRCm39)		probably benign	Het
Lmntd2	A	G	7: 140,793,910 (GRCm39)	V21A	probably benign	Het
Lonp1	T	A	17: 56,925,337 (GRCm39)	D485V	probably damaging	Het
Mia2	A	G	12: 59,236,427 (GRCm39)	T1346A	possibly damaging	Het
Mpp2	T	C	11: 101,976,141 (GRCm39)	T6A	probably benign	Het
Mycbp2	A	T	14: 103,466,866 (GRCm39)	V1299E	probably damaging	Het
Myo1d	C	T	11: 80,573,236 (GRCm39)	G197E	probably damaging	Het
Nfib	T	C	4: 82,416,532 (GRCm39)	I168V	possibly damaging	Het
Or2ak5	T	A	11: 58,611,097 (GRCm39)	Y259F	probably damaging	Het
Or2b7	A	T	13: 21,739,975 (GRCm39)	C72*	probably null	Het
Or2y1e	C	T	11: 49,218,868 (GRCm39)	A210V	probably benign	Het
Or4c121	T	A	2: 89,023,617 (GRCm39)	I254L	probably benign	Het
Or4c29	C	T	2: 88,739,810 (GRCm39)	R309Q	probably benign	Het
Parp3	A	T	9: 106,351,922 (GRCm39)	I150K	probably damaging	Het
Pnp	A	G	14: 51,185,443 (GRCm39)	D49G	probably benign	Het
Prkcq	T	C	2: 11,251,781 (GRCm39)	I206T	probably damaging	Het
Rif1	GCCACCA	GCCA	2: 52,000,336 (GRCm39)		probably benign	Het
Rlf	A	G	4: 121,007,729 (GRCm39)	L417P	probably benign	Het
Scn7a	AT	ATT	2: 66,531,239 (GRCm39)		probably null	Het
Sgce	T	A	6: 4,730,008 (GRCm39)	D72V	probably benign	Het
Sh3d21	A	G	4: 126,056,625 (GRCm39)	S66P	probably benign	Het
Sost	C	G	11: 101,854,865 (GRCm39)	G148A	probably damaging	Het
Sybu	T	C	15: 44,609,854 (GRCm39)	E138G	probably damaging	Het
Tas1r2	A	G	4: 139,396,886 (GRCm39)	T742A	probably damaging	Het
Tet3	A	G	6: 83,380,401 (GRCm39)	V589A	probably damaging	Het
Tnxb	C	A	17: 34,891,605 (GRCm39)	C649*	probably null	Het
Tnxb	A	G	17: 34,922,561 (GRCm39)	Y2458C	probably damaging	Het
Tsku	T	C	7: 98,001,746 (GRCm39)	N195S	probably damaging	Het
Vmn1r215	T	A	13: 23,260,378 (GRCm39)	N139K	probably damaging	Het
Zfp106	T	C	2: 120,357,544 (GRCm39)	H1117R	probably benign	Het
Zfp26	A	G	9: 20,352,756 (GRCm39)		probably benign	Het
Zfp764l1	T	C	7: 126,990,914 (GRCm39)	T358A	possibly damaging	Het
Zfp804b	T	A	5: 7,230,625 (GRCm39)		probably benign	Het
Zfr	T	C	15: 12,153,006 (GRCm39)	S546P	probably benign	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
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'- GTCTATACAAATGCCTGACACCAG -3'
(R):5'- CCCTTCCCTGTACCAATGGG -3'

Sequencing Primer
(F):5'- CAGAATTCAGAGCCGTCATTTC -3'
(R):5'- TTCCCTGTACCAATGGGCATGG -3'

Posted On

2015-02-18