Mutagenetix > Incidental Mutation

Incidental Mutation 'R1494:Gpx8'

163838

Institutional Source

Beutler Lab

Gene Symbol

Gpx8

Ensembl Gene

ENSMUSG00000021760

Gene Name

glutathione peroxidase 8 (putative)

Synonyms

2310016C16Rik

MMRRC Submission

039545-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.513) question?

Stock #

R1494 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

113179287-113182944 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 113182149 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Lysine at position 95 (E95K)

Ref Sequence

ENSEMBL: ENSMUSP00000022282 (fasta)

Gene Model

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

AlphaFold

Q9D7B7

Predicted Effect

possibly damaging
Transcript: ENSMUST00000022282
AA Change: E95K

PolyPhen 2 Score 0.954 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000022282
Gene: ENSMUSG00000021760
AA Change: E95K

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: 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: ENSMUST00000231962

Meta Mutation Damage Score

0.0987

Coding Region Coverage

1x: 99.0%
3x: 98.1%
10x: 95.8%
20x: 91.3%

Validation Efficiency

97% (57/59)

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: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700067P10Rik	A	G	17: 48,400,991 (GRCm39)	E92G	probably benign	Het
Abca13	C	T	11: 9,416,429 (GRCm39)	Q4064*	probably null	Het
Abca14	G	A	7: 119,815,524 (GRCm39)	M257I	probably benign	Het
Acsm2	T	A	7: 119,174,855 (GRCm39)	C207S	probably damaging	Het
Actr3	A	G	1: 125,344,018 (GRCm39)	I67T	probably benign	Het
Adcy7	T	C	8: 89,046,835 (GRCm39)	V606A	probably benign	Het
Ahnak2	G	A	12: 112,751,570 (GRCm39)	S54F	probably damaging	Het
Ano6	T	C	15: 95,870,388 (GRCm39)	S848P	probably damaging	Het
Atg3	C	T	16: 44,992,123 (GRCm39)		probably benign	Het
Atp8b1	T	A	18: 64,697,597 (GRCm39)	S416C	probably damaging	Het
C2cd5	A	G	6: 142,987,072 (GRCm39)		probably benign	Het
Capn11	A	T	17: 45,954,735 (GRCm39)	V134E	probably damaging	Het
Ccnd3	A	G	17: 47,909,033 (GRCm39)		probably null	Het
Chaf1b	T	A	16: 93,684,998 (GRCm39)	V149E	probably damaging	Het
Col5a2	T	A	1: 45,542,074 (GRCm39)	M1L	unknown	Het
Copa	T	C	1: 171,931,694 (GRCm39)	I315T	probably benign	Het
Cyp3a57	A	G	5: 145,318,077 (GRCm39)	M353V	probably damaging	Het
Dcaf6	T	C	1: 165,160,942 (GRCm39)	M828V	probably damaging	Het
Dock2	T	A	11: 34,232,761 (GRCm39)	K1080*	probably null	Het
Dock6	A	G	9: 21,726,038 (GRCm39)	V1424A	probably benign	Het
Foxa1	T	C	12: 57,588,984 (GRCm39)	D412G	probably damaging	Het
Foxp4	G	C	17: 48,191,278 (GRCm39)		probably benign	Het
Galnt9	T	A	5: 110,736,196 (GRCm39)	S171T	probably damaging	Het
Glt6d1	A	G	2: 25,684,260 (GRCm39)	Y249H	probably damaging	Het
Gm37240	A	T	3: 84,434,998 (GRCm39)	Y104N	probably damaging	Het
Grm1	T	C	10: 10,565,450 (GRCm39)	T953A	probably benign	Het
Helz	T	C	11: 107,494,889 (GRCm39)		probably benign	Het
Hif3a	T	C	7: 16,788,647 (GRCm39)	Y108C	probably damaging	Het
Kcnj13	A	T	1: 87,316,939 (GRCm39)	L58Q	probably damaging	Het
Mfsd14b	A	T	13: 65,243,485 (GRCm39)	V53D	probably damaging	Het
Mrps7	G	C	11: 115,494,952 (GRCm39)		probably benign	Het
Mug1	G	A	6: 121,856,259 (GRCm39)	G1013D	probably damaging	Het
Or52h7	T	A	7: 104,214,038 (GRCm39)	Y203*	probably null	Het
Or6c8	A	T	10: 128,915,484 (GRCm39)	M116K	probably damaging	Het
Pax6	T	C	2: 105,521,955 (GRCm39)	I19T	probably benign	Het
Pde8b	G	A	13: 95,184,304 (GRCm39)	R416C	probably damaging	Het
Prl2c2	G	C	13: 13,176,786 (GRCm39)	T47R	probably damaging	Het
Pygl	G	A	12: 70,246,504 (GRCm39)	R348W	probably damaging	Het
Ralgapa1	T	A	12: 55,731,309 (GRCm39)	D1874V	probably damaging	Het
Shf	G	A	2: 122,199,163 (GRCm39)	P51S	probably damaging	Het
Sncaip	T	C	18: 53,001,958 (GRCm39)	S160P	probably damaging	Het
Sptbn4	A	G	7: 27,133,719 (GRCm39)	V79A	probably damaging	Het
Sptlc3	A	T	2: 139,431,480 (GRCm39)	Y334F	possibly damaging	Het
Supt16	A	G	14: 52,409,916 (GRCm39)	Y764H	probably benign	Het
Syne3	A	T	12: 104,921,841 (GRCm39)	V438E	possibly damaging	Het
Tagap1	T	C	17: 7,224,210 (GRCm39)	D162G	probably damaging	Het
Terb1	T	C	8: 105,225,122 (GRCm39)		probably benign	Het
Themis3	C	A	17: 66,866,949 (GRCm39)	R97L	probably benign	Het
Tnk1	T	A	11: 69,747,372 (GRCm39)	E86D	possibly damaging	Het
Tnpo3	A	G	6: 29,557,043 (GRCm39)	L53P	probably damaging	Het
Trpc6	G	A	9: 8,658,305 (GRCm39)	R725K	probably benign	Het
Ttll11	T	G	2: 35,685,391 (GRCm39)	T566P	probably damaging	Het
Unc5c	A	T	3: 141,533,310 (GRCm39)	T779S	possibly damaging	Het
Zfp42	A	G	8: 43,748,638 (GRCm39)	C288R	possibly damaging	Het
Zfp763	G	A	17: 33,240,477 (GRCm39)	T52I	probably damaging	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
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
R4414:Gpx8	UTSW	13	113,179,682 (GRCm39)	missense	possibly damaging	0.69
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'- GGTTCTGCTTCCGGCCCTAAAATC -3'
(R):5'- AGGAGATGCTTTGAGACCCGCTAC -3'

Sequencing Primer
(F):5'- CGGCCCTAAAATCTTAATCTTGTGG -3'
(R):5'- CGTAGTCTGCCAAAATGGCTTAG -3'

Posted On

2014-03-28