Mutagenetix > Incidental Mutation

Incidental Mutation 'R6476:Gpx3'

516803

Institutional Source

Beutler Lab

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 #

R6476 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

54793680-54801213 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 54798025 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Phenylalanine at position 54 (I54F)

Ref Sequence

ENSEMBL: ENSMUSP00000119165 (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

probably damaging
Transcript: ENSMUST00000082430
AA Change: I54F

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000081011
Gene: ENSMUSG00000018339
AA Change: I54F

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

probably damaging
Transcript: ENSMUST00000125094
AA Change: I54F

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000119165
Gene: ENSMUSG00000018339
AA Change: I54F

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000149324
AA Change: I54F

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

SMART Domains

Protein: ENSMUSP00000119882
Gene: ENSMUSG00000018339
AA Change: I54F

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000124304

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.3%
20x: 95.3%

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: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
a	T	C	2: 154,892,699 (GRCm39)	V126A	probably benign	Het
Adamts20	T	C	15: 94,259,691 (GRCm39)	Q336R	probably benign	Het
Ankrd36	A	G	11: 5,578,753 (GRCm39)	T6A	probably benign	Het
Arhgap33	A	G	7: 30,223,837 (GRCm39)	S731P	probably damaging	Het
Arhgef10l	G	C	4: 140,338,693 (GRCm39)	P23R	probably damaging	Het
Atf7	T	C	15: 102,502,147 (GRCm39)	D3G	probably benign	Het
Caps2	A	G	10: 112,011,465 (GRCm39)	T30A	possibly damaging	Het
Ccdc15	A	T	9: 37,253,715 (GRCm39)	I191N	probably benign	Het
Cep170	A	T	1: 176,607,917 (GRCm39)	S180T	possibly damaging	Het
Chd1	G	A	17: 17,601,250 (GRCm39)		probably null	Het
Col6a3	A	T	1: 90,709,534 (GRCm39)	N1887K	unknown	Het
Csgalnact1	C	T	8: 68,913,761 (GRCm39)	S148N	probably damaging	Het
Csgalnact1	T	A	8: 68,913,762 (GRCm39)	S148C	probably damaging	Het
Dnah14	A	G	1: 181,572,333 (GRCm39)	E2888G	probably benign	Het
Dnah7b	T	A	1: 46,281,364 (GRCm39)	Y2808*	probably null	Het
Dock10	A	C	1: 80,518,959 (GRCm39)	L1254*	probably null	Het
Eml2	T	C	7: 18,930,236 (GRCm39)	V511A	probably benign	Het
Eml6	A	G	11: 29,741,971 (GRCm39)		probably null	Het
Erbin	C	A	13: 103,977,755 (GRCm39)	D601Y	probably damaging	Het
Farsa	A	G	8: 85,583,809 (GRCm39)	E49G	probably damaging	Het
Fzd7	A	G	1: 59,523,154 (GRCm39)	M346V	probably damaging	Het
Gatd3a	T	C	10: 78,003,347 (GRCm39)	N102D	probably damaging	Het
Glg1	A	C	8: 111,926,806 (GRCm39)	S170A	possibly damaging	Het
H6pd	G	A	4: 150,067,184 (GRCm39)	H401Y	probably damaging	Het
Hspb8	A	G	5: 116,560,457 (GRCm39)	S28P	probably damaging	Het
Iqub	T	A	6: 24,449,744 (GRCm39)	N707I	probably damaging	Het
Krt9	A	T	11: 100,081,640 (GRCm39)	D296E	probably damaging	Het
Lcor	C	T	19: 41,571,518 (GRCm39)	T237I	probably benign	Het
Lnx1	A	G	5: 74,768,541 (GRCm39)	V349A	possibly damaging	Het
Map3k6	A	T	4: 132,977,397 (GRCm39)	S915C	probably damaging	Het
Mecom	C	A	3: 30,034,717 (GRCm39)	A510S	possibly damaging	Het
Mettl14	A	G	3: 123,167,686 (GRCm39)	I224T	probably damaging	Het
Mme	T	C	3: 63,251,056 (GRCm39)		probably null	Het
Nbea	T	A	3: 55,912,227 (GRCm39)	T1187S	probably benign	Het
Ndor1	T	C	2: 25,138,154 (GRCm39)	T444A	possibly damaging	Het
Nhlrc1	A	G	13: 47,167,657 (GRCm39)	L200P	possibly damaging	Het
Npc1	G	T	18: 12,334,751 (GRCm39)	S667*	probably null	Het
Nscme3l	A	C	19: 5,553,253 (GRCm39)	I176S	probably damaging	Het
Or14a256	C	T	7: 86,265,218 (GRCm39)	V212I	probably benign	Het
Or1l8	T	A	2: 36,817,595 (GRCm39)	H177L	possibly damaging	Het
Or4c109	T	A	2: 88,817,721 (GRCm39)	D275V	probably benign	Het
Or51d1	T	A	7: 102,348,310 (GRCm39)	N288K	possibly damaging	Het
Or5g9	T	A	2: 85,551,928 (GRCm39)	Y60N	probably damaging	Het
Pds5a	A	C	5: 65,791,630 (GRCm39)	I773R	possibly damaging	Het
Pgr	T	A	9: 8,964,839 (GRCm39)		probably null	Het
Plscr4	A	T	9: 92,372,819 (GRCm39)	M314L	probably benign	Het
Polr2m	A	G	9: 71,390,752 (GRCm39)	V46A	probably benign	Het
Ptk2b	T	A	14: 66,424,923 (GRCm39)	M174L	possibly damaging	Het
Sec31a	A	T	5: 100,534,008 (GRCm39)	F521I	probably benign	Het
Serpinb3d	T	C	1: 107,011,071 (GRCm39)	N47S	probably benign	Het
Shld2	T	C	14: 33,989,971 (GRCm39)	S312G	probably benign	Het
Slc24a3	T	A	2: 145,448,750 (GRCm39)	D431E	probably benign	Het
Slc34a1	C	A	13: 23,996,569 (GRCm39)	H25N	probably damaging	Het
Slc9a9	T	C	9: 94,567,191 (GRCm39)	F87L	probably benign	Het
Spata31	T	A	13: 65,065,456 (GRCm39)	S54T	possibly damaging	Het
Spata6	T	C	4: 111,632,020 (GRCm39)	S144P	probably damaging	Het
Sppl2c	A	G	11: 104,077,595 (GRCm39)	N132D	probably benign	Het
Ssu2	C	T	6: 112,351,793 (GRCm39)	G311S	probably damaging	Het
Syne1	T	A	10: 5,104,531 (GRCm39)	Q6328L	possibly damaging	Het
Tie1	T	C	4: 118,330,062 (GRCm39)	T1054A	possibly damaging	Het
Tnfaip6	T	G	2: 51,942,328 (GRCm39)	D212E	probably benign	Het
Tnxb	A	G	17: 34,909,166 (GRCm39)	T1442A	probably damaging	Het
Trim35	C	T	14: 66,546,244 (GRCm39)	T337M	probably damaging	Het
Vipr1	T	C	9: 121,498,489 (GRCm39)	V413A	probably benign	Het
Vmn1r19	C	G	6: 57,381,578 (GRCm39)	Q44E	probably damaging	Het
Zfp1002	T	C	2: 150,097,246 (GRCm39)	D61G	probably benign	Het
Zfp266	G	T	9: 20,410,577 (GRCm39)	H533Q	probably damaging	Het
Zfp689	T	C	7: 127,043,896 (GRCm39)	S245G	probably damaging	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
IGL02600:Gpx3	APN	11	54,800,433 (GRCm39)	missense	possibly damaging	0.84
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
R8494:Gpx3	UTSW	11	54,793,846 (GRCm39)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- TGGGTAAGTCACTCTCTCCCTG -3'
(R):5'- CCAATGGAGCTGGGATACAAAC -3'

Sequencing Primer
(F):5'- TGCTGGCAATCATCCATGACG -3'
(R):5'- ATACAAACCTGGGCCTGTG -3'

Posted On

2018-05-21