Incidental Mutation 'R1538:Gpx6'
ID 169733
Institutional Source Beutler Lab
Gene Symbol Gpx6
Ensembl Gene ENSMUSG00000004341
Gene Name glutathione peroxidase 6
Synonyms 1700020G18Rik, olfactory
MMRRC Submission 039577-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R1538 (G1)
Quality Score 225
Status Not validated
Chromosome 13
Chromosomal Location 21312125-21319624 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) A to G at 21313652 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 31 (D31G)
Ref Sequence ENSEMBL: ENSMUSP00000004453 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000004453]
AlphaFold Q91WR8
Predicted Effect possibly damaging
Transcript: ENSMUST00000004453
AA Change: D31G

PolyPhen 2 Score 0.817 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000004453
Gene: ENSMUSG00000004341
AA Change: D31G

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: 99.0%
  • 3x: 98.1%
  • 10x: 95.5%
  • 20x: 89.6%
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: 104 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1110002E22Rik G T 3: 138,065,401 (GRCm38) R117L probably benign Het
4930447C04Rik G A 12: 72,881,346 (GRCm38) A537V possibly damaging Het
4930579F01Rik A C 3: 138,183,756 (GRCm38) D33E probably damaging Het
Acnat1 T C 4: 49,447,835 (GRCm38) K249E possibly damaging Het
Ankrd13a T C 5: 114,804,234 (GRCm38) I526T possibly damaging Het
Aplp1 C A 7: 30,436,027 (GRCm38) E535D probably benign Het
Armc8 T A 9: 99,505,290 (GRCm38) H425L probably damaging Het
Arsi G A 18: 60,916,651 (GRCm38) G202E probably benign Het
Asprv1 C T 6: 86,628,636 (GRCm38) Q155* probably null Het
Atl1 A G 12: 69,926,188 (GRCm38) Q94R probably benign Het
Atp2a2 A G 5: 122,457,377 (GRCm38) L970P probably damaging Het
Atp8a2 T C 14: 59,860,270 (GRCm38) K770E probably benign Het
Bod1l A G 5: 41,816,429 (GRCm38) M2514T probably benign Het
Cacfd1 T A 2: 27,018,939 (GRCm38) D97E probably benign Het
Cacna1e A G 1: 154,561,758 (GRCm38) L344P probably damaging Het
Cacna2d2 C A 9: 107,517,416 (GRCm38) R596S probably damaging Het
Catip C A 1: 74,364,652 (GRCm38) S176* probably null Het
Cdcp1 G A 9: 123,173,588 (GRCm38) S806L probably damaging Het
Cdk6 A T 5: 3,520,675 (GRCm38) I289L probably benign Het
Cers3 C T 7: 66,781,823 (GRCm38) T182I probably damaging Het
Cfap46 T A 7: 139,683,008 (GRCm38) N43I probably null Het
Clec4n A T 6: 123,230,033 (GRCm38) R5S possibly damaging Het
Cnr2 G T 4: 135,916,701 (GRCm38) S30I probably benign Het
Col18a1 C T 10: 77,071,336 (GRCm38) G870E probably damaging Het
Cpne6 T C 14: 55,515,220 (GRCm38) V289A possibly damaging Het
Crym G A 7: 120,197,715 (GRCm38) L141F probably benign Het
Cxxc5 T C 18: 35,858,569 (GRCm38) S8P unknown Het
Dido1 A C 2: 180,684,970 (GRCm38) S453R possibly damaging Het
Dnah2 A C 11: 69,477,202 (GRCm38) S1770R probably benign Het
Dnah7a A G 1: 53,495,989 (GRCm38) V2704A possibly damaging Het
Eml5 T C 12: 98,794,276 (GRCm38) N1738S probably damaging Het
Eri3 A G 4: 117,582,639 (GRCm38) T138A possibly damaging Het
Ext2 C T 2: 93,707,287 (GRCm38) E585K probably damaging Het
Fbxw19 T A 9: 109,494,988 (GRCm38) S38C probably damaging Het
Fcgbpl1 A T 7: 28,155,492 (GRCm38) I1848F probably damaging Het
Fmo6 G A 1: 162,926,106 (GRCm38) P156S probably damaging Het
Frem3 T C 8: 80,612,710 (GRCm38) L544P probably damaging Het
Frem3 A T 8: 80,613,135 (GRCm38) I686F probably benign Het
Gabra1 T C 11: 42,140,350 (GRCm38) Y251C probably benign Het
Gemin4 G T 11: 76,211,161 (GRCm38) Q925K probably benign Het
Gm18856 T A 13: 13,964,689 (GRCm38) probably benign Het
Gnb1 A T 4: 155,551,714 (GRCm38) T164S probably benign Het
Gzmd A C 14: 56,130,345 (GRCm38) I157S probably benign Het
Il31ra T A 13: 112,547,466 (GRCm38) N43I possibly damaging Het
Irak3 T C 10: 120,165,130 (GRCm38) T297A probably benign Het
Kank2 T C 9: 21,774,631 (GRCm38) D649G probably damaging Het
Kif3b AGAGGAGGAGGAGGAGG AGAGGAGGAGGAGG 2: 153,317,462 (GRCm38) probably benign Het
Kirrel1 C T 3: 87,089,151 (GRCm38) M380I probably null Het
Klhl18 A G 9: 110,446,747 (GRCm38) F111S probably damaging Het
Lratd2 A G 15: 60,823,649 (GRCm38) C83R probably damaging Het
Lrp5 A G 19: 3,647,585 (GRCm38) S319P possibly damaging Het
Mettl15 T C 2: 109,131,665 (GRCm38) probably null Het
Mtarc1 T C 1: 184,802,002 (GRCm38) E223G probably damaging Het
Ncoa1 T C 12: 4,270,748 (GRCm38) Q1107R possibly damaging Het
Ncoa7 T G 10: 30,694,211 (GRCm38) M251L probably damaging Het
Nos2 A T 11: 78,956,570 (GRCm38) M1023L probably benign Het
Nup107 T C 10: 117,790,494 (GRCm38) K25E probably damaging Het
Or10q1b A T 19: 13,705,496 (GRCm38) Y223F probably damaging Het
Or52s1b A G 7: 103,172,986 (GRCm38) I217T probably damaging Het
Or5k14 T A 16: 58,872,898 (GRCm38) N84I probably damaging Het
Or5p58 T A 7: 108,095,286 (GRCm38) I95F probably damaging Het
Or6b6 A T 7: 106,971,983 (GRCm38) Y120* probably null Het
Or6c206 T C 10: 129,261,213 (GRCm38) I84T probably damaging Het
Parm1 G A 5: 91,594,447 (GRCm38) E225K possibly damaging Het
Pdzd2 A C 15: 12,372,961 (GRCm38) S2363A probably damaging Het
Piezo1 A G 8: 122,491,403 (GRCm38) L1199P probably damaging Het
Prpsap1 A T 11: 116,479,708 (GRCm38) M141K probably benign Het
Prss29 A T 17: 25,320,283 (GRCm38) M1L possibly damaging Het
Pter T A 2: 12,978,606 (GRCm38) S141T probably benign Het
Ptpru A T 4: 131,774,351 (GRCm38) D1181E probably damaging Het
Rab3ip T A 10: 116,939,254 (GRCm38) Q66H probably damaging Het
Rgs12 A T 5: 35,021,167 (GRCm38) T779S probably damaging Het
Rgs22 A G 15: 36,048,776 (GRCm38) F786S probably damaging Het
Rnasel A T 1: 153,760,794 (GRCm38) D640V possibly damaging Het
Rp1 T C 1: 4,345,676 (GRCm38) T1738A probably damaging Het
Sacs T C 14: 61,210,059 (GRCm38) S3185P probably damaging Het
Scnn1a T A 6: 125,338,893 (GRCm38) D321E possibly damaging Het
Sec31b G C 19: 44,518,586 (GRCm38) L1014V probably benign Het
Serpinb10 A G 1: 107,540,960 (GRCm38) Y111C probably damaging Het
Shld2 C G 14: 34,268,876 (GRCm38) Q24H probably damaging Het
Siglecg A G 7: 43,417,889 (GRCm38) K627E possibly damaging Het
Sigmar1 T C 4: 41,740,845 (GRCm38) I95V probably benign Het
Sirpb1b T A 3: 15,548,759 (GRCm38) T88S possibly damaging Het
Spire2 T G 8: 123,358,156 (GRCm38) L245R probably damaging Het
Stard9 C A 2: 120,696,711 (GRCm38) P1150T probably benign Het
Stat6 C A 10: 127,653,256 (GRCm38) T380N probably damaging Het
Sult3a1 G A 10: 33,870,170 (GRCm38) G162E probably benign Het
Surf4 T C 2: 26,933,698 (GRCm38) probably null Het
Tacc2 T C 7: 130,625,419 (GRCm38) M1278T probably benign Het
Tacr2 T A 10: 62,261,327 (GRCm38) probably null Het
Tcaf1 A T 6: 42,678,989 (GRCm38) V351E probably damaging Het
Tmcc2 A G 1: 132,380,980 (GRCm38) S59P probably damaging Het
Tmem17 G A 11: 22,517,266 (GRCm38) S60N possibly damaging Het
Tmem63b C G 17: 45,678,978 (GRCm38) R88P possibly damaging Het
Tmprss7 A T 16: 45,679,390 (GRCm38) I307N probably benign Het
Treml2 A T 17: 48,302,758 (GRCm38) T73S possibly damaging Het
Trrap A G 5: 144,837,202 (GRCm38) H2876R possibly damaging Het
Tyw3 A G 3: 154,596,869 (GRCm38) I53T probably damaging Het
Ugp2 A G 11: 21,333,791 (GRCm38) I92T possibly damaging Het
Vmn2r66 A T 7: 84,994,958 (GRCm38) M748K possibly damaging Het
Vmn2r82 T C 10: 79,356,744 (GRCm38) S52P possibly damaging Het
Wdr37 A T 13: 8,836,792 (GRCm38) S320T probably benign Het
Zbtb16 A T 9: 48,832,283 (GRCm38) M243K probably benign Het
Zfr C T 15: 12,150,243 (GRCm38) T432I possibly damaging Het
Other mutations in Gpx6
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00674:Gpx6 APN 13 21,313,808 (GRCm38) splice site probably benign
Jaded UTSW 13 21,317,658 (GRCm38) missense probably damaging 1.00
R0648:Gpx6 UTSW 13 21,318,877 (GRCm38) missense probably benign 0.44
R0835:Gpx6 UTSW 13 21,317,068 (GRCm38) missense probably damaging 1.00
R1496:Gpx6 UTSW 13 21,318,920 (GRCm38) missense probably benign
R1839:Gpx6 UTSW 13 21,312,327 (GRCm38) missense probably benign
R2151:Gpx6 UTSW 13 21,318,971 (GRCm38) missense probably damaging 1.00
R2845:Gpx6 UTSW 13 21,318,875 (GRCm38) critical splice acceptor site probably null
R3785:Gpx6 UTSW 13 21,313,786 (GRCm38) missense probably benign 0.02
R3973:Gpx6 UTSW 13 21,317,658 (GRCm38) missense probably damaging 1.00
R3974:Gpx6 UTSW 13 21,317,658 (GRCm38) missense probably damaging 1.00
R3975:Gpx6 UTSW 13 21,317,658 (GRCm38) missense probably damaging 1.00
R4124:Gpx6 UTSW 13 21,317,645 (GRCm38) nonsense probably null
R4707:Gpx6 UTSW 13 21,312,264 (GRCm38) nonsense probably null
R4751:Gpx6 UTSW 13 21,317,064 (GRCm38) missense probably damaging 1.00
R4784:Gpx6 UTSW 13 21,312,264 (GRCm38) nonsense probably null
R4785:Gpx6 UTSW 13 21,312,264 (GRCm38) nonsense probably null
R5002:Gpx6 UTSW 13 21,313,688 (GRCm38) missense probably damaging 1.00
R5403:Gpx6 UTSW 13 21,317,643 (GRCm38) missense probably damaging 1.00
R6004:Gpx6 UTSW 13 21,319,069 (GRCm38) missense probably benign
R6030:Gpx6 UTSW 13 21,312,340 (GRCm38) missense probably benign 0.01
R6030:Gpx6 UTSW 13 21,312,340 (GRCm38) missense probably benign 0.01
R7223:Gpx6 UTSW 13 21,317,670 (GRCm38) critical splice donor site probably null
R9701:Gpx6 UTSW 13 21,317,607 (GRCm38) missense probably benign 0.13
X0017:Gpx6 UTSW 13 21,317,039 (GRCm38) missense probably damaging 1.00
Predicted Primers PCR Primer

Sequencing Primer
Posted On 2014-04-13