Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02481:Gsr'

295238

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Gsr

Ensembl Gene

ENSMUSG00000031584

Gene Name

glutathione reductase

Synonyms

D8Ertd238e, Gr-1, Gr1

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.213) question?

Stock #

IGL02481

Quality Score

Status

Chromosome

Chromosomal Location

34143266-34188190 bp(+) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

T to C at 34175569 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000033992 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000033992]

AlphaFold

P47791

Predicted Effect

probably benign
Transcript: ENSMUST00000033992

SMART Domains

Protein: ENSMUSP00000033992
Gene: ENSMUSG00000031584

Domain	Start	End	E-Value	Type
low complexity region	17	22	N/A	INTRINSIC
Pfam:Pyr_redox_2	43	368	1.2e-73	PFAM
Pfam:Pyr_redox	211	292	1.7e-21	PFAM
Pfam:Pyr_redox_dim	389	500	1.6e-38	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000149528

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the class-I pyridine nucleotide-disulfide oxidoreductase family. This enzyme is a homodimeric flavoprotein. It is a central enzyme of cellular antioxidant defense, and reduces oxidized glutathione disulfide (GSSG) to the sulfhydryl form GSH, which is an important cellular antioxidant. Rare mutations in this gene result in hereditary glutathione reductase deficiency. Multiple alternatively spliced transcript variants encoding different isoforms have been found. [provided by RefSeq, Aug 2010]
PHENOTYPE: A homozygous mutation disrupting this gene between exon 1-2 results in a decreased retinal artery-to-vein ratio. Another small deletion of exons 2-5 has no phenotypic effect. Electrophoretic alleles designated a (C57BL/6, CE) vs. allele b (SJL, SWR) are known. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Akr1b8	G	A	6: 34,340,729 (GRCm39)	A209T	probably damaging	Het
Ccdc90b	G	A	7: 92,223,854 (GRCm39)	V117I	probably benign	Het
Cdkl2	A	T	5: 92,185,130 (GRCm39)	I87N	probably damaging	Het
Cfap57	T	A	4: 118,438,302 (GRCm39)	E863V	probably damaging	Het
Clca3a2	G	A	3: 144,790,701 (GRCm39)	S457L	possibly damaging	Het
Crim1	C	T	17: 78,658,227 (GRCm39)	T702I	probably damaging	Het
Cysltr1	C	A	X: 105,621,728 (GRCm39)	V253L	probably damaging	Het
Dgcr6	G	A	16: 17,883,038 (GRCm39)	A6T	possibly damaging	Het
Dis3l	T	C	9: 64,226,362 (GRCm39)		probably null	Het
Dnm3	A	G	1: 161,838,471 (GRCm39)	S826P	probably damaging	Het
Dspp	A	G	5: 104,323,514 (GRCm39)	N219S	possibly damaging	Het
Dzip3	T	C	16: 48,795,914 (GRCm39)		probably benign	Het
Erc2	T	A	14: 27,375,028 (GRCm39)	L82Q	probably damaging	Het
Ercc6l	T	C	X: 101,188,275 (GRCm39)	T745A	probably benign	Het
Gata4	T	C	14: 63,437,910 (GRCm39)	T414A	probably benign	Het
Gmps	A	G	3: 63,921,773 (GRCm39)	D592G	probably damaging	Het
Grin3a	A	G	4: 49,702,868 (GRCm39)	Y873H	probably damaging	Het
Gtf2h1	T	C	7: 46,454,417 (GRCm39)	L133P	probably damaging	Het
Ifna5	A	C	4: 88,754,327 (GRCm39)	E189A	probably benign	Het
Irx5	A	G	8: 93,087,307 (GRCm39)	Y413C	probably damaging	Het
Kcnk3	A	G	5: 30,779,727 (GRCm39)	E259G	probably damaging	Het
Kcnt2	T	C	1: 140,282,299 (GRCm39)		probably benign	Het
Kif19a	A	G	11: 114,679,979 (GRCm39)	E772G	probably benign	Het
Klhdc7a	T	A	4: 139,693,121 (GRCm39)	T609S	probably benign	Het
Krt78	C	A	15: 101,856,853 (GRCm39)		probably benign	Het
Lca5	A	T	9: 83,305,170 (GRCm39)	I212N	probably damaging	Het
Lgr6	T	C	1: 134,929,429 (GRCm39)		probably benign	Het
Madd	T	G	2: 91,008,381 (GRCm39)	T174P	probably damaging	Het
Mcm9	A	G	10: 53,502,033 (GRCm39)	I184T	probably damaging	Het
Mlycd	G	A	8: 120,137,073 (GRCm39)	R431H	probably damaging	Het
Myh10	G	A	11: 68,692,994 (GRCm39)	A1393T	probably benign	Het
Myof	G	T	19: 37,926,361 (GRCm39)	Y1144*	probably null	Het
Nbeal2	G	A	9: 110,455,063 (GRCm39)	Q2578*	probably null	Het
Nlrp4f	T	A	13: 65,342,548 (GRCm39)	T366S	probably benign	Het
Nnat	T	C	2: 157,403,167 (GRCm39)	F36S	possibly damaging	Het
Nsd3	C	A	8: 26,181,143 (GRCm39)	P915T	probably damaging	Het
Or10ak12	C	T	4: 118,666,696 (GRCm39)	V122M	probably benign	Het
Or10k2	A	C	8: 84,268,015 (GRCm39)	M81L	possibly damaging	Het
Or1n1	A	T	2: 36,749,830 (GRCm39)	C177S	probably damaging	Het
Or2g25	A	G	17: 37,970,363 (GRCm39)	L287P	probably damaging	Het
Or4l1	G	A	14: 50,166,164 (GRCm39)	T279I	probably damaging	Het
Pkd1l3	A	G	8: 110,341,414 (GRCm39)	N89S	unknown	Het
Pkd2	T	C	5: 104,634,636 (GRCm39)	F556L	probably damaging	Het
Psen2	T	A	1: 180,062,626 (GRCm39)	M239L	probably damaging	Het
Rad50	A	G	11: 53,570,876 (GRCm39)	I794T	probably benign	Het
Ralgps1	G	A	2: 33,230,741 (GRCm39)	T14I	probably benign	Het
Rnpepl1	C	T	1: 92,843,629 (GRCm39)	P250S	probably damaging	Het
Skic8	T	C	9: 54,635,545 (GRCm39)	I19V	probably damaging	Het
Slc47a2	A	G	11: 61,227,067 (GRCm39)	V167A	possibly damaging	Het
Tmem161b	T	A	13: 84,432,112 (GRCm39)	V41D	probably damaging	Het
Vmn2r88	A	T	14: 51,651,611 (GRCm39)	E308D	probably benign	Het
Zfhx4	G	A	3: 5,476,903 (GRCm39)	E3148K	probably damaging	Het

Other mutations in Gsr

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02471:Gsr	APN	8	34,172,612 (GRCm39)	splice site	probably benign
IGL02941:Gsr	APN	8	34,179,453 (GRCm39)	missense	probably damaging	0.98
IGL03242:Gsr	APN	8	34,175,627 (GRCm39)	missense	probably benign
IGL03293:Gsr	APN	8	34,185,024 (GRCm39)	splice site	probably benign
R0208:Gsr	UTSW	8	34,179,383 (GRCm39)	missense	possibly damaging	0.45
R0490:Gsr	UTSW	8	34,161,540 (GRCm39)	splice site	probably benign
R0492:Gsr	UTSW	8	34,171,603 (GRCm39)	splice site	probably benign
R0524:Gsr	UTSW	8	34,159,208 (GRCm39)	critical splice donor site	probably null
R1104:Gsr	UTSW	8	34,159,949 (GRCm39)	missense	probably damaging	1.00
R1976:Gsr	UTSW	8	34,170,288 (GRCm39)	splice site	probably null
R2507:Gsr	UTSW	8	34,170,316 (GRCm39)	missense	probably benign	0.45
R2508:Gsr	UTSW	8	34,170,316 (GRCm39)	missense	probably benign	0.45
R3726:Gsr	UTSW	8	34,161,565 (GRCm39)	missense	probably benign	0.11
R4573:Gsr	UTSW	8	34,183,881 (GRCm39)	missense	probably benign	0.00
R4623:Gsr	UTSW	8	34,170,333 (GRCm39)	missense	probably damaging	0.99
R4639:Gsr	UTSW	8	34,187,284 (GRCm39)	missense	probably damaging	1.00
R4713:Gsr	UTSW	8	34,170,347 (GRCm39)	critical splice donor site	probably null
R4717:Gsr	UTSW	8	34,183,886 (GRCm39)	nonsense	probably null
R4992:Gsr	UTSW	8	34,183,941 (GRCm39)	missense	probably damaging	1.00
R5099:Gsr	UTSW	8	34,161,556 (GRCm39)	missense	probably damaging	1.00
R6019:Gsr	UTSW	8	34,183,835 (GRCm39)	missense	probably damaging	0.97
R7046:Gsr	UTSW	8	34,185,090 (GRCm39)	missense	probably damaging	1.00
R7570:Gsr	UTSW	8	34,159,193 (GRCm39)	missense	probably damaging	1.00
R8955:Gsr	UTSW	8	34,183,936 (GRCm39)	missense	possibly damaging	0.78
R9362:Gsr	UTSW	8	34,179,406 (GRCm39)	missense	probably damaging	1.00

Posted On

2015-04-16