Incidental Mutation 'R6030:Gpx6'
ID 486225
Institutional Source Beutler Lab
Gene Symbol Gpx6
Ensembl Gene ENSMUSG00000004341
Gene Name glutathione peroxidase 6
Synonyms 1700020G18Rik, olfactory
MMRRC Submission 044202-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6030 (G1)
Quality Score 219.009
Status Not validated
Chromosome 13
Chromosomal Location 21496295-21503794 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 21496510 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Leucine at position 28 (S28L)
Ref Sequence ENSEMBL: ENSMUSP00000004453 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000004453]
AlphaFold Q91WR8
Predicted Effect probably benign
Transcript: ENSMUST00000004453
AA Change: S28L

PolyPhen 2 Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)
SMART Domains Protein: ENSMUSP00000004453
Gene: ENSMUSG00000004341
AA Change: S28L

DomainStartEndE-ValueType
signal peptide 1 19 N/A INTRINSIC
Pfam:GSHPx 40 153 1.2e-43 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000136668
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.2%
  • 20x: 95.1%
Validation Efficiency
MGI Phenotype FUNCTION: This gene encodes a member of the glutathione peroxidase family. Glutathione peroxidases catalyze the reduction of a variety of hydroperoxides, using glutathione as a specific electron donor substrate. The mouse and the rat orthologs contain Cys, unlike their human counterpart, which is a selenoprotein containing Sec (selenocysteine) at its active site. Expression of this gene is restricted to embryos and adult olfactory epithelium. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 77 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca16 A G 7: 120,133,021 (GRCm39) N1317D probably benign Het
Abhd8 T A 8: 71,910,794 (GRCm39) Y338F possibly damaging Het
Actg2 G T 6: 83,493,346 (GRCm39) N297K probably damaging Het
Agap1 A G 1: 89,558,156 (GRCm39) D148G probably damaging Het
Alox12 T C 11: 70,145,417 (GRCm39) D52G possibly damaging Het
Ano5 T A 7: 51,224,573 (GRCm39) S496T probably damaging Het
Arl6ip4 T C 5: 124,255,968 (GRCm39) probably null Het
Atp4a G C 7: 30,421,941 (GRCm39) E826Q probably damaging Het
Bbs7 T C 3: 36,657,060 (GRCm39) D256G probably damaging Het
Bckdha T A 7: 25,330,866 (GRCm39) D50V probably damaging Het
Cast A G 13: 74,844,056 (GRCm39) S693P possibly damaging Het
Cfap251 C T 5: 123,412,267 (GRCm39) T532M probably damaging Het
Col6a1 T C 10: 76,545,700 (GRCm39) Y924C unknown Het
Crkl A G 16: 17,270,604 (GRCm39) Y88C probably damaging Het
Cse1l T C 2: 166,761,541 (GRCm39) F32L probably benign Het
Dmxl2 C T 9: 54,300,957 (GRCm39) V2385I probably benign Het
Dnah1 T A 14: 30,989,984 (GRCm39) I3219F probably damaging Het
Dnah17 C T 11: 117,916,375 (GRCm39) R4266H probably benign Het
Efcab5 A G 11: 77,012,088 (GRCm39) L722P probably damaging Het
Emilin3 C A 2: 160,751,105 (GRCm39) V215L probably benign Het
Entr1 T C 2: 26,276,983 (GRCm39) D249G possibly damaging Het
Esr1 A T 10: 4,696,622 (GRCm39) N157I possibly damaging Het
Esrrg A G 1: 187,930,904 (GRCm39) M309V probably benign Het
Fam120b G A 17: 15,622,172 (GRCm39) R50Q probably damaging Het
Fat2 G T 11: 55,201,129 (GRCm39) Y648* probably null Het
Gbp2b T A 3: 142,309,414 (GRCm39) I175N probably benign Het
Gm1043 T A 5: 37,311,952 (GRCm39) probably benign Het
Gm21060 A G 19: 61,285,411 (GRCm39) C33R possibly damaging Het
Hyls1 G A 9: 35,472,480 (GRCm39) S312F probably benign Het
Ifi44 T C 3: 151,455,195 (GRCm39) Q10R probably benign Het
Impa2 T C 18: 67,451,498 (GRCm39) V264A probably benign Het
Khdc1a A T 1: 21,421,108 (GRCm39) M98L probably benign Het
Lrrc45 T A 11: 120,611,474 (GRCm39) L616* probably null Het
Mios A T 6: 8,215,704 (GRCm39) H300L probably benign Het
Mllt6 A T 11: 97,568,051 (GRCm39) T827S probably damaging Het
Mrc1 C A 2: 14,321,712 (GRCm39) D1068E probably benign Het
Ndst3 T C 3: 123,346,168 (GRCm39) Y702C probably damaging Het
Nek11 T A 9: 105,082,087 (GRCm39) probably null Het
Nek4 T C 14: 30,678,890 (GRCm39) F138S probably damaging Het
Nfatc4 T A 14: 56,069,897 (GRCm39) Y688* probably null Het
Nlrx1 C T 9: 44,175,057 (GRCm39) V240M probably damaging Het
Npy6r A T 18: 44,409,149 (GRCm39) Y190F probably benign Het
Or10ab5 A C 7: 108,245,433 (GRCm39) S117A possibly damaging Het
Or10d4b T C 9: 39,534,637 (GRCm39) F71L probably damaging Het
Or1j10 T G 2: 36,267,556 (GRCm39) L256R probably damaging Het
Or52b4i C A 7: 102,191,817 (GRCm39) R225S probably benign Het
Or5p52 A G 7: 107,502,620 (GRCm39) E232G probably benign Het
Or6c68 A T 10: 129,158,238 (GRCm39) T249S probably benign Het
Osbpl7 A C 11: 96,943,087 (GRCm39) H113P probably benign Het
Pam16l C T 10: 43,400,252 (GRCm39) A30V probably benign Het
Pck1 A G 2: 172,996,650 (GRCm39) E188G probably benign Het
Pimreg A G 11: 71,936,576 (GRCm39) D213G probably benign Het
Pkd1l2 A G 8: 117,769,976 (GRCm39) I1160T probably damaging Het
Ppargc1b G A 18: 61,441,005 (GRCm39) Q622* probably null Het
Ppfia2 T A 10: 106,742,338 (GRCm39) C1044S probably damaging Het
Ppp4r3a A G 12: 101,024,659 (GRCm39) V280A probably damaging Het
Ptprf T C 4: 118,068,245 (GRCm39) N1764D probably benign Het
Pygm C T 19: 6,438,842 (GRCm39) R311C possibly damaging Het
Rab7b A G 1: 131,626,299 (GRCm39) K109R probably damaging Het
Rsf1 GGCG GGCGACGGCTGCG 7: 97,229,113 (GRCm39) probably benign Homo
Setbp1 T G 18: 78,900,926 (GRCm39) I914L probably benign Het
Shprh A C 10: 11,027,735 (GRCm39) Q114P probably benign Het
Slc5a9 T C 4: 111,742,725 (GRCm39) I456V possibly damaging Het
Slc8b1 T C 5: 120,657,985 (GRCm39) probably null Het
Spin1 T A 13: 51,293,552 (GRCm39) Y87* probably null Het
Spring1 T C 5: 118,393,798 (GRCm39) W59R probably damaging Het
Srebf2 T C 15: 82,061,477 (GRCm39) probably null Het
Sufu T C 19: 46,463,978 (GRCm39) Y397H probably damaging Het
Tgfb3 A C 12: 86,110,624 (GRCm39) V242G probably benign Het
Tgm3 A T 2: 129,883,920 (GRCm39) Y526F probably damaging Het
Tmem209 A G 6: 30,482,967 (GRCm39) L508P probably damaging Het
Tmem67 T C 4: 12,063,799 (GRCm39) D454G probably benign Het
Ttn T C 2: 76,646,943 (GRCm39) E3280G possibly damaging Het
Tusc3 G C 8: 39,538,560 (GRCm39) G200R probably damaging Het
Umps A G 16: 33,782,508 (GRCm39) V138A probably benign Het
Ypel1 A G 16: 16,902,377 (GRCm39) probably null Het
Zdhhc19 T A 16: 32,317,860 (GRCm39) L63Q probably null Het
Other mutations in Gpx6
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00674:Gpx6 APN 13 21,497,978 (GRCm39) splice site probably benign
Jaded UTSW 13 21,501,828 (GRCm39) missense probably damaging 1.00
R0648:Gpx6 UTSW 13 21,503,047 (GRCm39) missense probably benign 0.44
R0835:Gpx6 UTSW 13 21,501,238 (GRCm39) missense probably damaging 1.00
R1496:Gpx6 UTSW 13 21,503,090 (GRCm39) missense probably benign
R1538:Gpx6 UTSW 13 21,497,822 (GRCm39) missense possibly damaging 0.82
R1839:Gpx6 UTSW 13 21,496,497 (GRCm39) missense probably benign
R2151:Gpx6 UTSW 13 21,503,141 (GRCm39) missense probably damaging 1.00
R2845:Gpx6 UTSW 13 21,503,045 (GRCm39) critical splice acceptor site probably null
R3785:Gpx6 UTSW 13 21,497,956 (GRCm39) missense probably benign 0.02
R3973:Gpx6 UTSW 13 21,501,828 (GRCm39) missense probably damaging 1.00
R3974:Gpx6 UTSW 13 21,501,828 (GRCm39) missense probably damaging 1.00
R3975:Gpx6 UTSW 13 21,501,828 (GRCm39) missense probably damaging 1.00
R4124:Gpx6 UTSW 13 21,501,815 (GRCm39) nonsense probably null
R4707:Gpx6 UTSW 13 21,496,434 (GRCm39) nonsense probably null
R4751:Gpx6 UTSW 13 21,501,234 (GRCm39) missense probably damaging 1.00
R4784:Gpx6 UTSW 13 21,496,434 (GRCm39) nonsense probably null
R4785:Gpx6 UTSW 13 21,496,434 (GRCm39) nonsense probably null
R5002:Gpx6 UTSW 13 21,497,858 (GRCm39) missense probably damaging 1.00
R5403:Gpx6 UTSW 13 21,501,813 (GRCm39) missense probably damaging 1.00
R6004:Gpx6 UTSW 13 21,503,239 (GRCm39) missense probably benign
R6030:Gpx6 UTSW 13 21,496,510 (GRCm39) missense probably benign 0.01
R7223:Gpx6 UTSW 13 21,501,840 (GRCm39) critical splice donor site probably null
R9701:Gpx6 UTSW 13 21,501,777 (GRCm39) missense probably benign 0.13
X0017:Gpx6 UTSW 13 21,501,209 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- ATCTTCAAACTGGTGCCTGC -3'
(R):5'- CGTAGCATCAGAGGCAGAAGTC -3'

Sequencing Primer
(F):5'- CTGCTGACGATCCTCAAAAGGG -3'
(R):5'- TCTGCAAAGGAAGGCCTCTCTC -3'
Posted On 2017-08-16