Incidental Mutation 'R2174:Gpx8'
ID 237725
Institutional Source Beutler Lab
Gene Symbol Gpx8
Ensembl Gene ENSMUSG00000021760
Gene Name glutathione peroxidase 8 (putative)
Synonyms 2310016C16Rik
MMRRC Submission 040176-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.513) question?
Stock # R2174 (G1)
Quality Score 225
Status Validated
Chromosome 13
Chromosomal Location 113179287-113182944 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 113182140 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Proline to Serine at position 98 (P98S)
Ref Sequence ENSEMBL: ENSMUSP00000022282 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022282] [ENSMUST00000099162] [ENSMUST00000109244] [ENSMUST00000181117] [ENSMUST00000181568] [ENSMUST00000231962]
AlphaFold Q9D7B7
Predicted Effect probably benign
Transcript: ENSMUST00000022282
AA Change: P98S

PolyPhen 2 Score 0.082 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000022282
Gene: ENSMUSG00000021760
AA Change: P98S

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
low complexity region 3 12 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000109244
SMART Domains Protein: ENSMUSP00000104867
Gene: ENSMUSG00000078926

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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 0.1052 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.7%
  • 10x: 97.5%
  • 20x: 95.7%
Validation Efficiency 99% (73/74)
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: 72 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1600014C10Rik T C 7: 37,894,252 (GRCm39) I95T possibly damaging Het
Adarb1 A G 10: 77,131,632 (GRCm39) I619T probably benign Het
Aldh2 T C 5: 121,710,731 (GRCm39) probably benign Het
Antxrl T A 14: 33,782,357 (GRCm39) L180Q probably damaging Het
Asnsd1 A T 1: 53,386,760 (GRCm39) I289N probably benign Het
Asxl3 T G 18: 22,586,701 (GRCm39) S164A possibly damaging Het
Cacnb2 C T 2: 14,963,578 (GRCm39) T108I probably benign Het
Capn2 A T 1: 182,307,290 (GRCm39) I516N probably benign Het
Ccdc59 A T 10: 105,677,388 (GRCm39) K9M possibly damaging Het
Cenpo T C 12: 4,267,318 (GRCm39) K73R probably benign Het
Cfap20dc T C 14: 8,558,109 (GRCm38) I159V probably benign Het
Clasp1 A G 1: 118,487,825 (GRCm39) H823R probably damaging Het
Col6a4 T C 9: 105,937,331 (GRCm39) D1395G probably damaging Het
Ddx60 A G 8: 62,409,175 (GRCm39) I404V probably damaging Het
Ddx60 G T 8: 62,470,234 (GRCm39) M1407I probably benign Het
Dennd3 A T 15: 73,427,154 (GRCm39) R844W probably damaging Het
Depdc1b A T 13: 108,498,787 (GRCm39) K157* probably null Het
Dnai7 T C 6: 145,120,896 (GRCm39) H641R probably damaging Het
Dnajc1 T C 2: 18,312,762 (GRCm39) D196G probably damaging Het
Fanca A G 8: 123,998,009 (GRCm39) W1226R probably benign Het
Fbxl13 A G 5: 21,787,046 (GRCm39) V297A possibly damaging Het
Fnta A T 8: 26,503,498 (GRCm39) F96I possibly damaging Het
Fzd3 T C 14: 65,449,680 (GRCm39) probably benign Het
Gckr T C 5: 31,484,353 (GRCm39) V597A possibly damaging Het
Gm43302 T C 5: 105,422,216 (GRCm39) K496R probably benign Het
Gm5283 A G 3: 17,285,005 (GRCm39) noncoding transcript Het
Gm6741 A G 17: 91,544,332 (GRCm39) I32V probably benign Het
Gnptab T A 10: 88,269,906 (GRCm39) F870I probably damaging Het
Grm2 T C 9: 106,524,994 (GRCm39) I574V probably benign Het
Gtf3c5 T C 2: 28,457,787 (GRCm39) D468G probably benign Het
Hectd3 A T 4: 116,856,898 (GRCm39) M482L probably benign Het
Ier5 G T 1: 154,974,599 (GRCm39) P193H possibly damaging Het
Inpp4a A G 1: 37,435,211 (GRCm39) N827S probably damaging Het
Kif13a A G 13: 46,922,652 (GRCm39) L387P probably damaging Het
Map3k1 G C 13: 111,889,016 (GRCm39) H1314D possibly damaging Het
Mbl2 G A 19: 30,211,412 (GRCm39) C11Y possibly damaging Het
Msr1 A G 8: 40,084,381 (GRCm39) L58P probably damaging Het
Mtmr10 T A 7: 63,986,512 (GRCm39) F530Y possibly damaging Het
Myo7b A G 18: 32,116,610 (GRCm39) L999P probably damaging Het
Myoz3 T C 18: 60,723,296 (GRCm39) E8G probably benign Het
Naip6 C A 13: 100,435,495 (GRCm39) M1009I probably benign Het
Nav2 T A 7: 49,102,411 (GRCm39) M342K probably damaging Het
Ndufaf6 T C 4: 11,070,228 (GRCm39) H131R probably benign Het
Nlrp4a T C 7: 26,148,849 (GRCm39) L152P probably damaging Het
Or9s23 A G 1: 92,501,379 (GRCm39) N162S probably benign Het
Pan3 T C 5: 147,387,463 (GRCm39) I144T possibly damaging Het
Prkdc A T 16: 15,552,786 (GRCm39) Q2074L probably benign Het
Pthlh G A 6: 147,158,510 (GRCm39) T150I probably benign Het
Ptprq A T 10: 107,541,414 (GRCm39) Y371N probably damaging Het
Rfwd3 A G 8: 112,009,975 (GRCm39) S377P probably damaging Het
Rpl31-ps17 C T 12: 54,748,397 (GRCm39) noncoding transcript Het
Sap130 T C 18: 31,810,532 (GRCm39) probably null Het
Sap25 T G 5: 137,640,891 (GRCm39) M229R possibly damaging Het
Scaper A T 9: 55,766,321 (GRCm39) V479E probably null Het
Scn3a T A 2: 65,337,550 (GRCm39) D649V probably damaging Het
Slco1a7 A T 6: 141,673,319 (GRCm39) Y406* probably null Het
Smc1b A G 15: 85,006,052 (GRCm39) probably benign Het
Sowahb T C 5: 93,192,284 (GRCm39) E145G possibly damaging Het
Stxbp5 T A 10: 9,711,590 (GRCm39) I277F possibly damaging Het
Tanc1 T C 2: 59,674,177 (GRCm39) S1754P possibly damaging Het
Tanc2 A G 11: 105,801,135 (GRCm39) D1117G probably benign Het
Tbc1d31 A G 15: 57,815,137 (GRCm39) M605V possibly damaging Het
Tekt3 A T 11: 62,985,514 (GRCm39) D440V possibly damaging Het
Tmem67 C T 4: 12,063,730 (GRCm39) W477* probably null Het
Tra2a T C 6: 49,227,861 (GRCm39) probably benign Het
Trappc12 A G 12: 28,797,380 (GRCm39) F51L possibly damaging Het
Trrap C A 5: 144,758,665 (GRCm39) P2183Q probably benign Het
Ubn2 T A 6: 38,447,076 (GRCm39) probably null Het
Unc5d A T 8: 29,184,568 (GRCm39) V644E probably damaging Het
Xpo4 A G 14: 57,827,547 (GRCm39) L883P probably damaging Het
Zbbx T G 3: 74,959,721 (GRCm39) D616A possibly damaging Het
Zfp943 T A 17: 22,211,804 (GRCm39) C297S probably damaging Het
Other mutations in Gpx8
AlleleSourceChrCoordTypePredicted EffectPPH 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
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'- CATTGAGGCAGAGTAGATATTTACC -3'
(R):5'- CAGTCTTCGACCATTCATTTGGG -3'

Sequencing Primer
(F):5'- CAACAATAAATCTAAACGCAGGTTC -3'
(R):5'- GACTTCGTAGTCTGCCAAAATGG -3'
Posted On 2014-10-02