Incidental Mutation 'IGL00983:Prdx6b'
ID 306658
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 # IGL00983
Quality Score
Status
Chromosome 2
Chromosomal Location 80122816-80125700 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 80123539 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Lysine at position 116 (M116K)
Ref Sequence ENSEMBL: ENSMUSP00000133276 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000057072]
AlphaFold Q8BG37
Predicted Effect probably damaging
Transcript: ENSMUST00000057072
AA Change: M116K

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000133276
Gene: ENSMUSG00000050114
AA Change: M116K

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: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2810021J22Rik C T 11: 58,771,438 (GRCm39) Q307* probably null Het
Acss3 A T 10: 106,802,825 (GRCm39) C473* probably null Het
Adgrg1 T A 8: 95,731,871 (GRCm39) S178T probably damaging Het
Anxa7 C A 14: 20,508,749 (GRCm39) L386F possibly damaging Het
Calcrl T C 2: 84,200,798 (GRCm39) E82G probably benign Het
Ccr9 C T 9: 123,608,351 (GRCm39) P11L probably benign Het
Cep164 C A 9: 45,686,554 (GRCm39) V887L possibly damaging Het
Dctn6 A G 8: 34,559,747 (GRCm39) L136P probably damaging Het
Dnase1 T C 16: 3,857,417 (GRCm39) V238A possibly damaging Het
Fat1 A G 8: 45,486,427 (GRCm39) Y3304C probably damaging Het
Fbxo31 A T 8: 122,281,069 (GRCm39) V359D possibly damaging Het
Gpr182 A G 10: 127,586,657 (GRCm39) I98T possibly damaging Het
Gspt1 C T 16: 11,048,861 (GRCm39) probably benign Het
Itgam C A 7: 127,667,839 (GRCm39) T70K probably damaging Het
Itpr2 A G 6: 146,212,479 (GRCm39) probably benign Het
Kank3 T A 17: 34,040,791 (GRCm39) M458K probably damaging Het
Kcnd2 A G 6: 21,714,153 (GRCm39) K379E possibly damaging Het
Macf1 C T 4: 123,275,915 (GRCm39) V4206I probably damaging Het
Mdn1 T C 4: 32,735,525 (GRCm39) L3397S probably damaging Het
Msh3 A T 13: 92,436,785 (GRCm39) N508K probably damaging Het
Mttp C A 3: 137,820,890 (GRCm39) probably benign Het
Nme5 G T 18: 34,700,181 (GRCm39) Q155K probably benign Het
Or13p3 A T 4: 118,567,119 (GRCm39) N172Y probably damaging Het
Or2r11 A T 6: 42,437,029 (GRCm39) I308N probably benign Het
Or52b4i T A 7: 102,191,593 (GRCm39) I150N possibly damaging Het
Pfkp A T 13: 6,631,603 (GRCm39) W151R probably damaging Het
Pkd1l1 T A 11: 8,794,585 (GRCm39) T1859S probably benign Het
Pmvk T C 3: 89,374,890 (GRCm39) W96R probably damaging Het
Ptpro A C 6: 137,395,246 (GRCm39) L876F probably benign Het
Sdcbp G T 4: 6,392,953 (GRCm39) E197* probably null Het
Serpinb1c A T 13: 33,068,207 (GRCm39) S188R possibly damaging Het
Sorcs1 A T 19: 50,164,566 (GRCm39) D988E probably damaging Het
Tmbim1 C A 1: 74,334,422 (GRCm39) G46V probably damaging Het
Ubl4b C T 3: 107,461,756 (GRCm39) G168E unknown Het
Vmn2r91 T C 17: 18,325,820 (GRCm39) F146S probably benign Het
Zdhhc20 T C 14: 58,076,613 (GRCm39) N335D possibly damaging Het
Zzz3 T G 3: 152,161,447 (GRCm39) probably benign Het
Other mutations in Prdx6b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01710:Prdx6b APN 2 80,123,490 (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 2015-04-16