Incidental Mutation 'IGL01710:Prdx6b'
ID 104764
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Prdx6b
Ensembl Gene ENSMUSG00000050114
Gene Name peroxiredoxin 6B
Synonyms Aop2-rs1, 4930414C22Rik, Prdx6-ps1, 1-cysPrx-P1
Accession Numbers
Essential gene? Probably non essential (E-score: 0.090) question?
Stock # IGL01710
Quality Score
Status
Chromosome 2
Chromosomal Location 80122816-80125700 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 80123490 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Isoleucine at position 100 (F100I)
Ref Sequence ENSEMBL: ENSMUSP00000133276 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000057072]
AlphaFold Q8BG37
Predicted Effect probably damaging
Transcript: ENSMUST00000057072
AA Change: F100I

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000133276
Gene: ENSMUSG00000050114
AA Change: F100I

DomainStartEndE-ValueType
Pfam:Redoxin 6 164 6.9e-10 PFAM
Pfam:AhpC-TSA 7 146 3.7e-30 PFAM
Pfam:1-cysPrx_C 166 205 4.2e-14 PFAM
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: This intronless gene is similar to the multi-exon peroxiredoxin 6 gene located on chromosome 1. It is transcribed and the ORF is intact compared to that of the peroxiredoxin 6 gene. This gene could be considered a transcribed pseudogene based on a failure to detect the protein in vivo in PMID:14644414. However, NCBI is representing the protein due to mass spectrometry data in PMID:18614015, which detected at least one peptide that is specific for this protein. [provided by RefSeq, Mar 2011]
Allele List at MGI
Other mutations in this stock
Total: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ablim3 G A 18: 62,004,645 (GRCm39) T48I probably damaging Het
Ccpg1 T C 9: 72,904,723 (GRCm39) probably benign Het
Chkb G A 15: 89,310,843 (GRCm39) Q379* probably null Het
Chst15 T A 7: 131,872,236 (GRCm39) D15V probably benign Het
Cntn4 G A 6: 106,527,392 (GRCm39) V425I possibly damaging Het
Cpa6 T A 1: 10,395,497 (GRCm39) N390I probably damaging Het
Efhd2 A G 4: 141,587,872 (GRCm39) F193S probably damaging Het
Ell3 T C 2: 121,271,993 (GRCm39) H128R probably damaging Het
Ercc5 T G 1: 44,203,235 (GRCm39) L291V probably damaging Het
Eva1c A G 16: 90,701,235 (GRCm39) Y302C probably damaging Het
Fmo3 A C 1: 162,810,612 (GRCm39) L26R probably damaging Het
Galntl6 T A 8: 58,989,002 (GRCm39) D17V probably damaging Het
Gm6483 C T 8: 19,741,629 (GRCm39) P55S probably damaging Het
Gstt2 A G 10: 75,669,579 (GRCm39) probably benign Het
Hmcn2 T A 2: 31,233,114 (GRCm39) L221Q probably damaging Het
Hoxa3 T C 6: 52,147,554 (GRCm39) probably benign Het
Kctd12b T C X: 152,472,479 (GRCm39) D70G probably damaging Het
Kdm7a T A 6: 39,152,320 (GRCm39) E125D probably benign Het
Klk1b21 T A 7: 43,755,919 (GRCm39) F249L probably benign Het
Mrpl41 T C 2: 24,864,429 (GRCm39) D81G possibly damaging Het
Nomo1 T A 7: 45,687,980 (GRCm39) L82Q probably damaging Het
Or5p58 G T 7: 107,694,449 (GRCm39) F109L probably benign Het
Papolg A T 11: 23,814,026 (GRCm39) S718T probably damaging Het
Pex6 A G 17: 47,036,252 (GRCm39) probably benign Het
Pi4k2a T A 19: 42,093,418 (GRCm39) L253Q probably damaging Het
Prr36 G A 8: 4,265,243 (GRCm39) P169L probably damaging Het
Ptgfrn T C 3: 100,980,404 (GRCm39) E312G probably damaging Het
Rasgrf1 A G 9: 89,873,745 (GRCm39) I685V probably benign Het
Setdb1 T C 3: 95,246,164 (GRCm39) E586G probably damaging Het
Sez6l2 C A 7: 126,567,388 (GRCm39) T841K probably damaging Het
Slc25a17 A T 15: 81,211,527 (GRCm39) L163* probably null Het
Slc35f3 A T 8: 127,115,900 (GRCm39) I276F probably benign Het
Tcerg1l T A 7: 137,996,789 (GRCm39) K149N possibly damaging Het
Tex28 T A X: 73,195,939 (GRCm39) K278* probably null Het
Tmprss9 A G 10: 80,733,793 (GRCm39) probably benign Het
Tnfaip8l1 A G 17: 56,478,782 (GRCm39) K24R probably benign Het
Trim36 T C 18: 46,321,455 (GRCm39) probably benign Het
Uba1 C T X: 20,537,604 (GRCm39) T274I possibly damaging Het
Ubr2 T C 17: 47,254,335 (GRCm39) T1439A probably benign Het
Ubr4 A G 4: 139,145,772 (GRCm39) D1523G possibly damaging Het
Uchl4 A T 9: 64,142,788 (GRCm39) T90S probably benign Het
Other mutations in Prdx6b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00983:Prdx6b APN 2 80,123,539 (GRCm39) missense probably damaging 1.00
R0410:Prdx6b UTSW 2 80,123,373 (GRCm39) missense probably damaging 1.00
R0530:Prdx6b UTSW 2 80,123,659 (GRCm39) missense probably damaging 1.00
R1237:Prdx6b UTSW 2 80,123,520 (GRCm39) missense probably benign 0.04
R1797:Prdx6b UTSW 2 80,123,546 (GRCm39) missense possibly damaging 0.94
R2136:Prdx6b UTSW 2 80,123,507 (GRCm39) missense probably damaging 0.99
R4707:Prdx6b UTSW 2 80,123,404 (GRCm39) missense probably damaging 1.00
R7440:Prdx6b UTSW 2 80,123,560 (GRCm39) missense probably damaging 0.99
R7565:Prdx6b UTSW 2 80,123,334 (GRCm39) missense probably damaging 0.99
R7724:Prdx6b UTSW 2 80,123,746 (GRCm39) missense probably benign 0.01
R7814:Prdx6b UTSW 2 80,123,304 (GRCm39) missense possibly damaging 0.93
Posted On 2014-01-21