Mutagenetix > Incidental Mutation

Incidental Mutation 'R5235:Gpx7'

398286

Institutional Source

Beutler Lab

Gene Symbol

Gpx7

Ensembl Gene

ENSMUSG00000028597

Gene Name

glutathione peroxidase 7

Synonyms

3110050F08Rik, GPX6

MMRRC Submission

042807-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.098) question?

Stock #

R5235 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

108257414-108263910 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 108258189 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 135 (S135P)

Ref Sequence

ENSEMBL: ENSMUSP00000030332 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000030332] [ENSMUST00000184609]

AlphaFold

Q99LJ6

Predicted Effect

probably damaging
Transcript: ENSMUST00000030332
AA Change: S135P

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000030332
Gene: ENSMUSG00000028597
AA Change: S135P

Domain	Start	End	E-Value	Type
signal peptide	1	18	N/A	INTRINSIC
Pfam:AhpC-TSA	21	164	3.9e-7	PFAM
Pfam:GSHPx	24	132	2.5e-40	PFAM

Predicted Effect

silent
Transcript: ENSMUST00000184609

SMART Domains

Protein: ENSMUSP00000139335
Gene: ENSMUSG00000028597

Domain	Start	End	E-Value	Type
SCOP:d1knga_	16	48	2e-3	SMART
PDB:2P31\|B	19	45	2e-11	PDB

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.2%
20x: 95.3%

Validation Efficiency

MGI Phenotype

PHENOTYPE: Mice homozygous for a knock-out allele exhibit increased cellular sensitivity to oxidative stress, premature death, systemic disease and increased tumor incidence. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 38 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2610021A01Rik	C	A	7: 41,274,256 (GRCm39)	H126Q	possibly damaging	Het
Acot11	C	T	4: 106,617,327 (GRCm39)	G240R	probably damaging	Het
Aga	A	G	8: 53,967,361 (GRCm39)	H124R	probably damaging	Het
Ank1	G	A	8: 23,572,212 (GRCm39)	G49R	probably damaging	Het
Aox1	G	T	1: 58,096,714 (GRCm39)	V270L	possibly damaging	Het
Arfrp1	T	C	2: 181,001,298 (GRCm39)	H145R	probably benign	Het
Atg14	G	A	14: 47,805,656 (GRCm39)	R70C	probably damaging	Het
Atg3	A	G	16: 44,979,520 (GRCm39)	T20A	probably benign	Het
C3ar1	A	G	6: 122,827,881 (GRCm39)	L112P	probably damaging	Het
Clip2	G	A	5: 134,551,645 (GRCm39)	T159M	possibly damaging	Het
Csmd3	T	C	15: 47,492,674 (GRCm39)	T3156A	probably benign	Het
Dag1	T	C	9: 108,084,897 (GRCm39)	Y748C	probably damaging	Het
Dek	A	T	13: 47,239,955 (GRCm39)		probably null	Het
Fras1	G	A	5: 96,748,609 (GRCm39)	V695M	probably benign	Het
Ido2	A	T	8: 25,037,202 (GRCm39)	I168N	probably damaging	Het
Lca5	A	T	9: 83,305,107 (GRCm39)	L233*	probably null	Het
Liph	A	C	16: 21,802,785 (GRCm39)	L95V	probably damaging	Het
Mast1	A	T	8: 85,640,068 (GRCm39)	L1113Q	probably damaging	Het
Nlrx1	C	T	9: 44,175,047 (GRCm39)	G243D	probably damaging	Het
Or4ac1-ps1	G	A	2: 88,370,769 (GRCm39)		noncoding transcript	Het
Or5d40	T	A	2: 88,015,912 (GRCm39)	D230E	probably benign	Het
Otoa	T	C	7: 120,755,693 (GRCm39)	L1033P	probably damaging	Het
Ovol3	A	T	7: 29,932,899 (GRCm39)	Y179N	possibly damaging	Het
Papss2	A	G	19: 32,616,619 (GRCm39)	N215S	probably benign	Het
Pcdhga8	T	C	18: 37,860,488 (GRCm39)	Y515H	probably damaging	Het
Phlda1	CCAGCCCCAACCTCAGCCCCAACCTCAGCCCCAACC	CCAGCCCCAACCTCAGCCCCAACC	10: 111,343,252 (GRCm39)		probably benign	Het
Scn2a	A	T	2: 65,582,355 (GRCm39)	N1568Y	probably damaging	Het
Sec16b	A	T	1: 157,362,334 (GRCm39)	I251F	probably benign	Het
Slc29a4	T	A	5: 142,704,523 (GRCm39)	I355N	probably damaging	Het
Snx29	G	T	16: 11,231,110 (GRCm39)	C39F	possibly damaging	Het
Spata16	A	G	3: 26,721,781 (GRCm39)	M101V	probably benign	Het
Stat2	T	C	10: 128,126,901 (GRCm39)		probably null	Het
Tdpoz8	A	G	3: 92,981,393 (GRCm39)	D137G	probably damaging	Het
Tnrc6c	G	T	11: 117,651,555 (GRCm39)	V1693F	probably benign	Het
Tpm3	A	G	3: 89,993,802 (GRCm39)	E97G	probably damaging	Het
Ugt8a	A	C	3: 125,661,129 (GRCm39)	H454Q	probably damaging	Het
Vmn2r27	T	A	6: 124,169,013 (GRCm39)	I706L	probably damaging	Het
Wdfy3	T	C	5: 101,994,972 (GRCm39)	I3256V	probably null	Het

Other mutations in Gpx7

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R3110:Gpx7	UTSW	4	108,260,470 (GRCm39)	missense	probably damaging	1.00
R3112:Gpx7	UTSW	4	108,260,470 (GRCm39)	missense	probably damaging	1.00
R5204:Gpx7	UTSW	4	108,260,512 (GRCm39)	missense	probably benign	0.09
R5302:Gpx7	UTSW	4	108,258,111 (GRCm39)	missense	probably benign	0.04

Predicted Primers

PCR Primer
(F):5'- ACCACTTGAGTTTGCGGAG -3'
(R):5'- TATAAGGTGCTTGCCAGGCTG -3'

Sequencing Primer
(F):5'- CGGAGGGATGGGAGTTCC -3'
(R):5'- CTTGCCAGGCTGCTAAGTAG -3'

Posted On

2016-07-06