Mutagenetix > Incidental Mutations

Incidental Mutation 'R7689:Gpx8'

593293

Institutional Source

Beutler Lab

Gene Symbol

Gpx8

Ensembl Gene

ENSMUSG00000021760

Gene Name

glutathione peroxidase 8 (putative)

Synonyms

2310016C16Rik

MMRRC Submission

Accession Numbers

Is this an essential gene?

Possibly essential (E-score: 0.531) question?

Stock #

R7689 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

113042753-113046410 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 113043177 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Valine at position 197 (M197V)

Ref Sequence

ENSEMBL: ENSMUSP00000022282 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000022282] [ENSMUST00000109244] [ENSMUST00000180543] [ENSMUST00000181117] [ENSMUST00000181568] [ENSMUST00000231962]

AlphaFold

Q9D7B7

Predicted Effect

probably benign
Transcript: ENSMUST00000022282
AA Change: M197V

PolyPhen 2 Score 0.035 (Sensitivity: 0.94; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000022282
Gene: ENSMUSG00000021760
AA Change: M197V

Domain	Start	End	E-Value	Type
Pfam:AhpC-TSA	44	143	1.3e-8	PFAM
Pfam:GSHPx	47	155	5.3e-36	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000109244

SMART Domains

Protein: ENSMUSP00000104867
Gene: ENSMUSG00000078926

Domain	Start	End	E-Value	Type
low complexity region	85	97	N/A	INTRINSIC
WD40	218	257	6.6e1	SMART
WD40	266	301	5.75e-1	SMART
WD40	304	341	9.24e-1	SMART
WD40	345	383	9.02e-7	SMART
WD40	391	432	3.55e1	SMART
WD40	473	517	2.01e-4	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000180543

Predicted Effect

probably benign
Transcript: ENSMUST00000181117

SMART Domains

Protein: ENSMUSP00000137915
Gene: ENSMUSG00000078926

Domain	Start	End	E-Value	Type
low complexity region	85	97	N/A	INTRINSIC
WD40	218	257	6.6e1	SMART
WD40	266	301	5.75e-1	SMART
WD40	304	341	9.24e-1	SMART
WD40	345	383	9.02e-7	SMART
WD40	391	432	3.55e1	SMART
WD40	473	513	1.78e-5	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000181568

SMART Domains

Protein: ENSMUSP00000137849
Gene: ENSMUSG00000078926

Domain	Start	End	E-Value	Type
low complexity region	85	97	N/A	INTRINSIC
WD40	218	257	6.6e1	SMART
WD40	266	301	5.75e-1	SMART
WD40	304	341	9.24e-1	SMART
WD40	345	383	9.02e-7	SMART
WD40	431	475	2.01e-4	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000181741

Predicted Effect

probably benign
Transcript: ENSMUST00000231962

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.2%

Validation Efficiency

MGI Phenotype

PHENOTYPE: Male homozygous mice exhibit chronic active dermatitis, with epodermal hyperplasia and hyperkeratosis. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 77 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2510039O18Rik	T	A	4: 147,944,983	F470Y	probably damaging	Het
4921530L21Rik	T	C	14: 95,881,816	V3A	probably benign	Het
Adra1a	T	C	14: 66,637,801	L75P	probably damaging	Het
Agap1	T	C	1: 89,834,466	S560P	probably damaging	Het
Arrdc4	T	A	7: 68,741,875	I215L	probably damaging	Het
Atad3a	C	T	4: 155,756,153	A97T	probably damaging	Het
BC067074	A	G	13: 113,379,414	T121A		Het
Bcas3	A	T	11: 85,495,887	T383S	probably benign	Het
C2cd5	G	A	6: 143,050,225	R379*	probably null	Het
C77080	T	C	4: 129,223,773	N411S	probably benign	Het
Cacna1e	G	T	1: 154,398,803	H2138N	probably benign	Het
Card14	A	T	11: 119,325,502	D303V	possibly damaging	Het
Cfhr1	T	C	1: 139,547,740	Y331C	unknown	Het
Chp1	G	A	2: 119,584,665	D183N	probably benign	Het
Cntn2	T	C	1: 132,516,144	T966A	probably benign	Het
Cpne9	T	G	6: 113,290,004	C133G	probably damaging	Het
Cul7	C	T	17: 46,652,821	Q275*	probably null	Het
Cyp11b1	T	C	15: 74,839,048	D221G	probably benign	Het
Dmxl1	T	A	18: 49,846,618	F107I	probably benign	Het
Dnhd1	A	G	7: 105,713,963	I3911V	probably benign	Het
Dpcr1	C	A	17: 35,638,077	S210I	possibly damaging	Het
Eloa	T	C	4: 136,009,284	H551R	probably benign	Het
Fam171b	T	A	2: 83,879,388	V468D	probably benign	Het
Fat2	A	G	11: 55,309,840	W803R	probably damaging	Het
Fbxo43	T	C	15: 36,163,055	D2G	probably benign	Het
Fbxo8	A	G	8: 56,588,085	T179A	probably benign	Het
Gdap1	A	G	1: 17,161,399	T323A	probably damaging	Het
Gm136	T	C	4: 34,743,875	N323S	probably null	Het
Gm4737	T	C	16: 46,154,607	T136A	probably benign	Het
Gm6803	A	G	12: 88,018,489	Y95H	probably damaging	Het
Gm6899	A	T	11: 26,593,819	T129S	unknown	Het
Gnb3	A	T	6: 124,837,220	C166S	possibly damaging	Het
Gpr61	A	G	3: 108,150,650	F232L	probably damaging	Het
Gse1	G	T	8: 120,568,478	R446L	unknown	Het
Itch	A	G	2: 155,210,002	K614E	probably damaging	Het
Itch	A	T	2: 155,213,067	T764S	probably benign	Het
Itpkb	T	G	1: 180,413,979	M738R	probably damaging	Het
Jph1	T	A	1: 17,003,968	K609*	probably null	Het
Kcns1	G	A	2: 164,168,321	R173C	probably damaging	Het
Larp4b	C	T	13: 9,136,798	S54L	probably damaging	Het
Lonrf1	G	T	8: 36,248,764	S239*	probably null	Het
Lyst	T	G	13: 13,683,223		probably null	Het
Mccc1	T	A	3: 35,960,983	R663*	probably null	Het
Mcm3	A	G	1: 20,806,773	V646A	probably benign	Het
Mdn1	T	C	4: 32,739,912	L3722P	probably damaging	Het
Mmp27	T	G	9: 7,579,001	D392E	probably damaging	Het
Ms4a14	A	G	19: 11,302,542	I884T	probably benign	Het
Muc4	C	T	16: 32,753,011	T963I	probably benign	Het
Muc6	G	C	7: 141,637,746	P2338R	probably damaging	Het
Nbeal1	G	C	1: 60,237,151	V684L	probably benign	Het
Ndrg2	C	T	14: 51,910,355	A102T	possibly damaging	Het
Nos1	A	G	5: 117,897,727	D431G	probably damaging	Het
Oog4	CAA	CA	4: 143,437,452		probably null	Het
Otog	T	C	7: 46,252,056	L393P	probably damaging	Het
Plcl1	A	G	1: 55,697,468	N656S	probably damaging	Het
Pole3	C	A	4: 62,524,823	V27F	probably damaging	Het
Prrt4	T	A	6: 29,177,141	I210F	probably damaging	Het
Ptpn18	G	A	1: 34,473,364	D417N	possibly damaging	Het
Rbpms	A	T	8: 33,864,359	S53T	possibly damaging	Het
Rgs7	C	A	1: 175,121,730	V203L	probably benign	Het
Riok1	A	T	13: 38,045,287	D150V	probably damaging	Het
Rrp1b	T	C	17: 32,055,926	L335P	probably benign	Het
Rsph6a	T	G	7: 19,068,037	I592S	possibly damaging	Het
Skor1	C	T	9: 63,145,379	G436D	probably damaging	Het
Slc17a8	T	C	10: 89,597,457	T51A	possibly damaging	Het
Slc22a8	T	C	19: 8,607,884	S266P	probably damaging	Het
Socs2	A	G	10: 95,414,983		probably benign	Het
Tas2r106	A	G	6: 131,678,705	I61T	possibly damaging	Het
Tfap2a	T	C	13: 40,728,575	N77D	probably damaging	Het
Tmem236	T	A	2: 14,192,265	L88Q	probably damaging	Het
Ttc41	A	G	10: 86,759,224	E954G	probably damaging	Het
Vmn1r34	G	T	6: 66,637,010	S248*	probably null	Het
Wipf1	T	C	2: 73,432,445	R483G	probably damaging	Het
Zfhx4	A	G	3: 5,411,886	N3187S	probably benign	Het
Zfp202	C	A	9: 40,210,533	P309T	probably benign	Het
Zfp39	T	C	11: 58,890,643	H431R	probably damaging	Het
Zfp658	T	A	7: 43,574,678	H792Q	probably benign	Het

Other mutations in Gpx8

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00703:Gpx8	APN	13	113045513	missense	possibly damaging	0.61
IGL01110:Gpx8	APN	13	113045684	missense	probably benign	0.06
IGL02190:Gpx8	APN	13	113043309	splice site	probably benign
IGL03085:Gpx8	APN	13	113043261	missense	probably damaging	1.00
IGL03369:Gpx8	APN	13	113043162	missense	probably damaging	0.97
R0597:Gpx8	UTSW	13	113045501	missense	possibly damaging	0.72
R1494:Gpx8	UTSW	13	113045615	missense	possibly damaging	0.95
R1906:Gpx8	UTSW	13	113045576	missense	probably damaging	1.00
R1941:Gpx8	UTSW	13	113046275	missense	probably damaging	1.00
R2174:Gpx8	UTSW	13	113045606	missense	probably benign	0.08
R4414:Gpx8	UTSW	13	113043148	missense	possibly damaging	0.69
R4860:Gpx8	UTSW	13	113045508	nonsense	probably null
R4860:Gpx8	UTSW	13	113045508	nonsense	probably null
R6920:Gpx8	UTSW	13	113043236	missense	probably damaging	1.00
R7904:Gpx8	UTSW	13	113045501	missense	probably benign	0.14
R8849:Gpx8	UTSW	13	113043170	missense	probably benign	0.28
X0062:Gpx8	UTSW	13	113043175	missense	probably benign	0.04

Predicted Primers

PCR Primer
(F):5'- AACATTTCTATCTTGGGGACAGC -3'
(R):5'- ATTAAAGCTCTGACCTCTGCTC -3'

Sequencing Primer
(F):5'- TTGGGGACAGCCATTACATC -3'
(R):5'- GACCTCTGCTCTCTGTGGTG -3'

Posted On

2019-11-12