Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02600:Gpx3'

300036

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Gpx3

Ensembl Gene

ENSMUSG00000018339

Gene Name

glutathione peroxidase 3

Synonyms

extracellular GPx, GPx, EGPx, plasma GPx

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.117) question?

Stock #

IGL02600

Quality Score

Status

Chromosome

Chromosomal Location

54793680-54801213 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 54800433 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 210 (D210E)

Ref Sequence

ENSEMBL: ENSMUSP00000081011 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000018482] [ENSMUST00000082430] [ENSMUST00000102730] [ENSMUST00000102731] [ENSMUST00000108885] [ENSMUST00000108886] [ENSMUST00000108889] [ENSMUST00000125094] [ENSMUST00000149324]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000018482

SMART Domains

Protein: ENSMUSP00000018482
Gene: ENSMUSG00000020400

Domain	Start	End	E-Value	Type
coiled coil region	42	71	N/A	INTRINSIC
low complexity region	102	115	N/A	INTRINSIC
coiled coil region	215	266	N/A	INTRINSIC
low complexity region	284	296	N/A	INTRINSIC
SCOP:d1bg1a1	342	511	2e-4	SMART
low complexity region	519	543	N/A	INTRINSIC
low complexity region	560	577	N/A	INTRINSIC
low complexity region	586	599	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000082430
AA Change: D210E

PolyPhen 2 Score 0.841 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000081011
Gene: ENSMUSG00000018339
AA Change: D210E

Domain	Start	End	E-Value	Type
signal peptide	1	24	N/A	INTRINSIC
Pfam:GSHPx	40	153	4.8e-44	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000102730

SMART Domains

Protein: ENSMUSP00000099791
Gene: ENSMUSG00000020400

Domain	Start	End	E-Value	Type
coiled coil region	42	71	N/A	INTRINSIC
low complexity region	102	115	N/A	INTRINSIC
coiled coil region	215	266	N/A	INTRINSIC
low complexity region	284	296	N/A	INTRINSIC
SCOP:d1bg1a1	342	511	3e-4	SMART
low complexity region	519	543	N/A	INTRINSIC
low complexity region	560	577	N/A	INTRINSIC
low complexity region	586	599	N/A	INTRINSIC
low complexity region	627	640	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000102731

SMART Domains

Protein: ENSMUSP00000099792
Gene: ENSMUSG00000020400

Domain	Start	End	E-Value	Type
coiled coil region	42	71	N/A	INTRINSIC
low complexity region	102	115	N/A	INTRINSIC
coiled coil region	215	266	N/A	INTRINSIC
low complexity region	284	296	N/A	INTRINSIC
SCOP:d1bg1a1	342	511	2e-4	SMART
low complexity region	519	543	N/A	INTRINSIC
low complexity region	560	577	N/A	INTRINSIC
low complexity region	586	599	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000108885

SMART Domains

Protein: ENSMUSP00000104513
Gene: ENSMUSG00000020400

Domain	Start	End	E-Value	Type
low complexity region	49	62	N/A	INTRINSIC
coiled coil region	162	213	N/A	INTRINSIC
low complexity region	231	243	N/A	INTRINSIC
SCOP:d1bg1a1	289	458	5e-4	SMART
low complexity region	466	490	N/A	INTRINSIC
low complexity region	507	524	N/A	INTRINSIC
low complexity region	533	546	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000108886

SMART Domains

Protein: ENSMUSP00000104514
Gene: ENSMUSG00000020400

Domain	Start	End	E-Value	Type
low complexity region	49	62	N/A	INTRINSIC
coiled coil region	162	213	N/A	INTRINSIC
low complexity region	231	243	N/A	INTRINSIC
SCOP:d1bg1a1	289	458	5e-4	SMART
low complexity region	466	490	N/A	INTRINSIC
low complexity region	507	524	N/A	INTRINSIC
low complexity region	533	546	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000108889

SMART Domains

Protein: ENSMUSP00000104517
Gene: ENSMUSG00000020400

Domain	Start	End	E-Value	Type
coiled coil region	42	71	N/A	INTRINSIC
low complexity region	102	115	N/A	INTRINSIC
coiled coil region	215	266	N/A	INTRINSIC
low complexity region	284	296	N/A	INTRINSIC
SCOP:d1bg1a1	342	511	2e-4	SMART
low complexity region	519	543	N/A	INTRINSIC
low complexity region	560	577	N/A	INTRINSIC
low complexity region	586	599	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000124304

Predicted Effect

probably benign
Transcript: ENSMUST00000125094

SMART Domains

Protein: ENSMUSP00000119165
Gene: ENSMUSG00000018339

Domain	Start	End	E-Value	Type
signal peptide	1	24	N/A	INTRINSIC
Pfam:GSHPx	40	153	1.6e-43	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000149324

SMART Domains

Protein: ENSMUSP00000119882
Gene: ENSMUSG00000018339

Domain	Start	End	E-Value	Type
signal peptide	1	24	N/A	INTRINSIC
Pfam:GSHPx	40	83	1e-13	PFAM
Pfam:GSHPx	99	185	7.3e-28	PFAM

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: The protein encoded by this gene belongs to the glutathione peroxidase family, members of which catalyze the reduction of organic hydroperoxides and hydrogen peroxide (H2O2) by glutathione, and thereby protect cells against oxidative damage. Several isozymes of this gene family exist in vertebrates, which vary in cellular location and substrate specificity. This isozyme is secreted and is highly expressed in mouse kidney, which appears to be the major source of the enzyme in plasma. It has a role in mouse organogenesis, and dysregulation of this isozyme has been associated with obesity-related metabolic complications, platelet-dependent thrombosis, colitis-associated carcinoma, and thermosensitive phenotype. This isozyme is also a selenoprotein, containing the rare amino acid selenocysteine (Sec) at its active site. Sec is encoded by the UGA codon, which normally signals translation termination. The 3' UTRs of selenoprotein mRNAs contain a conserved stem-loop structure, designated the Sec insertion sequence (SECIS) element, that is necessary for the recognition of UGA as a Sec codon, rather than as a stop signal. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Aug 2016]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit reduced glutathione peroxidase activity, increase plasma selenium levels when mice are fed a selenium supplemented diet, and reduced kidney selenium levels regardless of selenium supplementation. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 28 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca5	T	G	11: 110,200,264 (GRCm39)	I483L	probably benign	Het
Bmpr1b	A	C	3: 141,546,488 (GRCm39)	M466R	probably damaging	Het
Casp8ap2	G	A	4: 32,630,246 (GRCm39)	D42N	probably null	Het
Crebbp	T	A	16: 3,972,882 (GRCm39)	T271S	probably benign	Het
Ddx27	A	G	2: 166,868,124 (GRCm39)	H319R	probably damaging	Het
Dync2i2	T	A	2: 29,923,314 (GRCm39)	D263V	possibly damaging	Het
Gckr	A	G	5: 31,462,374 (GRCm39)	M236V	probably benign	Het
Gm28044	A	C	13: 67,469,025 (GRCm39)		probably benign	Het
Gmnc	T	A	16: 26,781,641 (GRCm39)		probably benign	Het
Lpin2	A	G	17: 71,545,693 (GRCm39)	N513S	probably damaging	Het
Myh3	C	T	11: 66,974,227 (GRCm39)	R170C	probably damaging	Het
Nrxn3	G	T	12: 89,478,682 (GRCm39)		probably benign	Het
Nynrin	A	G	14: 56,101,449 (GRCm39)	I373V	probably benign	Het
Or13a21	T	C	7: 139,998,862 (GRCm39)	T275A	probably benign	Het
Or6b6	A	G	7: 106,570,756 (GRCm39)	I265T	possibly damaging	Het
Padi3	A	G	4: 140,525,467 (GRCm39)	V172A	probably benign	Het
Pdzd2	C	A	15: 12,411,105 (GRCm39)	G554W	probably damaging	Het
Plekhg6	G	A	6: 125,347,563 (GRCm39)	R464*	probably null	Het
Rnf123	G	A	9: 107,945,501 (GRCm39)	R390*	probably null	Het
Serinc1	A	G	10: 57,399,127 (GRCm39)	S259P	probably benign	Het
Slfn4	T	A	11: 83,077,832 (GRCm39)	S207T	possibly damaging	Het
Stab2	C	T	10: 86,790,123 (GRCm39)	G548R	probably damaging	Het
Tmem229b-ps	T	C	10: 53,351,052 (GRCm39)		noncoding transcript	Het
Ttn	G	A	2: 76,570,509 (GRCm39)	P26795S	probably damaging	Het
Vmn2r96	A	G	17: 18,817,829 (GRCm39)	M661V	probably benign	Het
Ybey	G	A	10: 76,300,165 (GRCm39)		probably benign	Het
Zbtb17	A	G	4: 141,194,196 (GRCm39)	D715G	possibly damaging	Het
Zgrf1	T	C	3: 127,394,623 (GRCm39)		probably benign	Het

Other mutations in Gpx3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02125:Gpx3	APN	11	54,798,068 (GRCm39)	missense	probably damaging	1.00
R0589:Gpx3	UTSW	11	54,800,329 (GRCm39)	missense	probably benign	0.00
R0969:Gpx3	UTSW	11	54,799,852 (GRCm39)	splice site	probably benign
R1344:Gpx3	UTSW	11	54,800,422 (GRCm39)	missense	probably damaging	0.99
R1418:Gpx3	UTSW	11	54,800,422 (GRCm39)	missense	probably damaging	0.99
R5105:Gpx3	UTSW	11	54,797,980 (GRCm39)	missense	possibly damaging	0.82
R5390:Gpx3	UTSW	11	54,800,375 (GRCm39)	missense	probably damaging	0.98
R6476:Gpx3	UTSW	11	54,798,025 (GRCm39)	missense	probably damaging	1.00
R8494:Gpx3	UTSW	11	54,793,846 (GRCm39)	missense	probably benign	0.00

Posted On

2015-04-16