Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL02190:Gpx8'

283851

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Gpx8

Ensembl Gene

ENSMUSG00000021760

Gene Name

glutathione peroxidase 8 (putative)

Synonyms

2310016C16Rik

Accession Numbers

Is this an essential gene?

Possibly non essential (E-score: 0.424) question?

Stock #

IGL02190

Quality Score

Status

Chromosome

Chromosomal Location

113042753-113046410 bp(-) (GRCm38)

Type of Mutation

splice site

DNA Base Change (assembly)

T to C at 113043309 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000156385 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000022282] [ENSMUST00000099162] [ENSMUST00000109244] [ENSMUST00000180543] [ENSMUST00000181117] [ENSMUST00000181568] [ENSMUST00000231962]

AlphaFold

Q9D7B7

Predicted Effect

probably benign
Transcript: ENSMUST00000022282

SMART Domains

Protein: ENSMUSP00000022282
Gene: ENSMUSG00000021760

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

noncoding transcript
Transcript: ENSMUST00000099162

SMART Domains

Protein: ENSMUSP00000096766
Gene: ENSMUSG00000074650

Domain	Start	End	E-Value	Type
low complexity region	3	12	N/A	INTRINSIC

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

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: 39 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrd1	T	C	5: 129,140,724		probably benign	Het
AI314180	A	T	4: 58,800,190	S1838R	probably benign	Het
Ano1	T	C	7: 144,618,883	E521G	probably benign	Het
As3mt	A	T	19: 46,719,945	I224F	probably benign	Het
Atp5j2	C	A	5: 145,183,832		probably benign	Het
Cacna1h	A	G	17: 25,433,026	V48A	probably benign	Het
Ctu2	T	C	8: 122,481,658		probably benign	Het
Efcab5	T	C	11: 77,121,314	R841G	probably benign	Het
Erbb3	A	T	10: 128,571,010		probably null	Het
Fkbp15	G	T	4: 62,304,822	P947T	possibly damaging	Het
Gabpb1	A	G	2: 126,653,549		probably benign	Het
Gcn1l1	G	T	5: 115,614,124	V2100L	probably damaging	Het
Gemin5	A	C	11: 58,134,842	V977G	probably damaging	Het
Gpr107	T	A	2: 31,178,320	Y265N	probably damaging	Het
H2-Eb2	A	T	17: 34,334,374	N178I	probably damaging	Het
Ift172	C	T	5: 31,254,458	V1587I	possibly damaging	Het
Lrrc45	A	G	11: 120,718,508	T398A	probably damaging	Het
Mmrn1	G	T	6: 60,987,193	V1059L	probably benign	Het
Morn5	A	G	2: 36,079,515	D147G	probably benign	Het
Mphosph9	T	C	5: 124,265,425	R847G	possibly damaging	Het
Nutm1	C	T	2: 112,249,406	W721*	probably null	Het
Olfr1136	A	G	2: 87,693,063	M273T	probably benign	Het
Olfr347	T	C	2: 36,734,579	L86P	probably benign	Het
Olfr531	T	C	7: 140,400,120		probably benign	Het
Rgl3	A	G	9: 21,981,708	F227L	probably benign	Het
Ropn1l	G	T	15: 31,443,341	L182I	probably benign	Het
Ror2	C	T	13: 53,110,728	S764N	probably damaging	Het
Scgb1a1	A	T	19: 9,087,867	L12Q	probably damaging	Het
Scp2	A	G	4: 108,087,128	S237P	probably benign	Het
Skint5	T	C	4: 113,940,765	Q207R	possibly damaging	Het
Slc16a5	A	G	11: 115,462,609	M1V	probably null	Het
Tox2	G	A	2: 163,323,006	R522H	possibly damaging	Het
Trip12	A	T	1: 84,766,070	N505K	probably damaging	Het
Tuba1c	G	A	15: 99,037,989	D444N	unknown	Het
Vmn1r174	A	G	7: 23,754,827	E306G	unknown	Het
Vmn2r111	A	T	17: 22,570,773	F417L	probably benign	Het
Vmn2r15	A	T	5: 109,293,374	M206K	probably damaging	Het
Vmn2r95	G	T	17: 18,451,776	A592S	probably benign	Het
Zfp318	C	T	17: 46,396,810	R265*	probably null	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
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
R7689:Gpx8	UTSW	13	113043177	missense	probably benign	0.04
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

Posted On

2015-04-16