Mutagenetix > Incidental Mutation

Incidental Mutation 'R4414:Gpx8'

328076

Institutional Source

Beutler Lab

Gene Symbol

Gpx8

Ensembl Gene

ENSMUSG00000021760

Gene Name

glutathione peroxidase 8 (putative)

Synonyms

2310016C16Rik

MMRRC Submission

041694-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.513) question?

Stock #

R4414 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

113179287-113182944 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 113179682 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Asparagine at position 206 (K206N)

Ref Sequence

ENSEMBL: ENSMUSP00000022282 (fasta)

Gene Model

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

AlphaFold

Q9D7B7

Predicted Effect

possibly damaging
Transcript: ENSMUST00000022282
AA Change: K206N

PolyPhen 2 Score 0.692 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000022282
Gene: ENSMUSG00000021760
AA Change: K206N

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

Meta Mutation Damage Score

0.0952

Coding Region Coverage

1x: 99.3%
3x: 98.6%
10x: 97.2%
20x: 95.0%

Validation Efficiency

100% (50/50)

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: 47 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930503E14Rik	T	A	14: 44,406,690 (GRCm39)	M120L	probably benign	Het
Aco2	A	G	15: 81,773,584 (GRCm39)		probably null	Het
Acss1	A	G	2: 150,501,823 (GRCm39)	S115P	possibly damaging	Het
Ank2	A	T	3: 127,019,411 (GRCm39)		probably null	Het
AU041133	C	T	10: 81,987,316 (GRCm39)	T323M	probably damaging	Het
Bdp1	T	C	13: 100,167,369 (GRCm39)	D2215G	probably damaging	Het
Bod1l	G	A	5: 41,977,870 (GRCm39)	T1148I	probably benign	Het
Celsr1	C	T	15: 85,847,334 (GRCm39)	V1468I	probably benign	Het
Celsr1	A	G	15: 85,812,200 (GRCm39)	V2065A	probably damaging	Het
Cep89	A	G	7: 35,115,822 (GRCm39)		probably benign	Het
Cfap58	A	G	19: 47,941,480 (GRCm39)	K283E	possibly damaging	Het
Cog5	C	T	12: 31,710,853 (GRCm39)	Q78*	probably null	Het
Col20a1	C	T	2: 180,643,043 (GRCm39)	R796C	possibly damaging	Het
Dnah7b	A	T	1: 46,165,840 (GRCm39)	T502S	probably benign	Het
Dnm1l	A	G	16: 16,160,559 (GRCm39)		probably null	Het
Dse	A	T	10: 34,028,632 (GRCm39)	F819L	probably benign	Het
Eloa	G	T	4: 135,738,553 (GRCm39)	L136I	possibly damaging	Het
Eloa	T	A	4: 135,738,576 (GRCm39)	H128L	probably benign	Het
Fbxl6	T	C	15: 76,421,924 (GRCm39)	E205G	possibly damaging	Het
Golim4	T	G	3: 75,802,347 (GRCm39)	N287T	probably benign	Het
Iqgap3	G	T	3: 88,004,293 (GRCm39)	V460F	probably benign	Het
Kcne4	A	T	1: 78,795,651 (GRCm39)	M100L	probably benign	Het
Kmt2a	A	T	9: 44,721,077 (GRCm39)		probably benign	Het
Ktn1	G	A	14: 47,962,387 (GRCm39)	W1117*	probably null	Het
Lad1	A	G	1: 135,756,484 (GRCm39)	D364G	probably benign	Het
Lmln	T	G	16: 32,930,220 (GRCm39)	I559S	probably benign	Het
Mapk4	A	T	18: 74,063,609 (GRCm39)	F538I	possibly damaging	Het
Mlxipl	A	G	5: 135,166,253 (GRCm39)		probably benign	Het
Mmrn1	T	C	6: 60,921,570 (GRCm39)	L9P	probably damaging	Het
Mnat1	G	A	12: 73,228,601 (GRCm39)	R155H	probably damaging	Het
Mtmr11	T	C	3: 96,075,207 (GRCm39)		probably benign	Het
Naaladl1	T	C	19: 6,165,581 (GRCm39)	L745P	probably damaging	Het
Obsl1	A	T	1: 75,467,546 (GRCm39)	D1409E	probably benign	Het
Oit3	T	C	10: 59,263,925 (GRCm39)	Y403C	probably damaging	Het
Pla2g4e	A	T	2: 120,013,194 (GRCm39)	H375Q	probably benign	Het
Prodh2	G	A	7: 30,205,877 (GRCm39)	V238M	probably damaging	Het
Rdh14	G	A	12: 10,441,231 (GRCm39)		probably null	Het
Rho	G	A	6: 115,912,191 (GRCm39)	V76I	probably benign	Het
Rock1	A	T	18: 10,080,514 (GRCm39)	M1010K	probably damaging	Het
Ros1	A	G	10: 52,038,800 (GRCm39)		probably null	Het
Sim1	A	T	10: 50,857,708 (GRCm39)	D486V	probably benign	Het
Spmip6	T	C	4: 41,505,574 (GRCm39)	T183A	possibly damaging	Het
Src	A	G	2: 157,306,573 (GRCm39)	D192G	probably damaging	Het
Stox1	T	C	10: 62,495,348 (GRCm39)	N975S	probably benign	Het
Tmem145	A	G	7: 25,006,554 (GRCm39)	Y54C	probably damaging	Het
Try4	C	T	6: 41,281,905 (GRCm39)	P164S	possibly damaging	Het
Vegfc	A	T	8: 54,634,130 (GRCm39)	N270Y	probably benign	Het

Other mutations in Gpx8

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00703:Gpx8	APN	13	113,182,047 (GRCm39)	missense	possibly damaging	0.61
IGL01110:Gpx8	APN	13	113,182,218 (GRCm39)	missense	probably benign	0.06
IGL02190:Gpx8	APN	13	113,179,843 (GRCm39)	splice site	probably benign
IGL03085:Gpx8	APN	13	113,179,795 (GRCm39)	missense	probably damaging	1.00
IGL03369:Gpx8	APN	13	113,179,696 (GRCm39)	missense	probably damaging	0.97
R0597:Gpx8	UTSW	13	113,182,035 (GRCm39)	missense	possibly damaging	0.72
R1494:Gpx8	UTSW	13	113,182,149 (GRCm39)	missense	possibly damaging	0.95
R1906:Gpx8	UTSW	13	113,182,110 (GRCm39)	missense	probably damaging	1.00
R1941:Gpx8	UTSW	13	113,182,809 (GRCm39)	missense	probably damaging	1.00
R2174:Gpx8	UTSW	13	113,182,140 (GRCm39)	missense	probably benign	0.08
R4860:Gpx8	UTSW	13	113,182,042 (GRCm39)	nonsense	probably null
R4860:Gpx8	UTSW	13	113,182,042 (GRCm39)	nonsense	probably null
R6920:Gpx8	UTSW	13	113,179,770 (GRCm39)	missense	probably damaging	1.00
R7689:Gpx8	UTSW	13	113,179,711 (GRCm39)	missense	probably benign	0.04
R7904:Gpx8	UTSW	13	113,182,035 (GRCm39)	missense	probably benign	0.14
R8849:Gpx8	UTSW	13	113,179,704 (GRCm39)	missense	probably benign	0.28
R9569:Gpx8	UTSW	13	113,182,125 (GRCm39)	missense	probably damaging	1.00
X0062:Gpx8	UTSW	13	113,179,709 (GRCm39)	missense	probably benign	0.04

Predicted Primers

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

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

Posted On

2015-07-07