Incidental Mutation 'IGL03170:Sod2'
ID411811
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Sod2
Ensembl Gene ENSMUSG00000006818
Gene Namesuperoxide dismutase 2, mitochondrial
SynonymsMnSOD, manganese superoxide dismutase, manganese SOD, Sod-2
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL03170
Quality Score
Status
Chromosome17
Chromosomal Location13007839-13018119 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to A at 13008370 bp
ZygosityHeterozygous
Amino Acid Change Histidine to Glutamine at position 70 (H70Q)
Ref Sequence ENSEMBL: ENSMUSP00000007012 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000007012]
Predicted Effect probably benign
Transcript: ENSMUST00000007012
AA Change: H70Q

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000007012
Gene: ENSMUSG00000006818
AA Change: H70Q

DomainStartEndE-ValueType
Pfam:Sod_Fe_N 25 106 1e-34 PFAM
Pfam:Sod_Fe_C 113 216 8.1e-41 PFAM
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is a member of the iron/manganese superoxide dismutase family. It encodes a mitochondrial protein that forms a homotetramer and binds one manganese ion per subunit. This protein binds to the superoxide byproducts of oxidative phosphorylation and converts them to hydrogen peroxide and diatomic oxygen. Mutations in this gene have been associated with idiopathic cardiomyopathy (IDC), premature aging, sporadic motor neuron disease, and cancer. Alternative splicing of this gene results in multiple transcript variants. A related pseudogene has been identified on chromosome 1. [provided by RefSeq, Apr 2016]
PHENOTYPE: Mutations affect mitochondrial function. Null homozygotes die early with cardiomyopathy, tissue lipid accumulation, neurodegeneration, motor problems and/or metabolic acidosis depending on strain background. Heterozygotes show mitochondria and apoptosis defects with age. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 29 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2310035C23Rik C T 1: 105,735,955 T943I probably damaging Het
Cand2 A G 6: 115,797,900 D1023G probably damaging Het
Cyp2c54 A G 19: 40,072,365 probably null Het
Cyp4f37 C T 17: 32,625,119 probably benign Het
Cyr61 C A 3: 145,649,759 A12S probably benign Het
Entpd2 T C 2: 25,399,481 F325S probably damaging Het
Flnb T C 14: 7,818,261 I37T possibly damaging Het
Gm7030 C T 17: 36,128,713 G125E probably damaging Het
Gm7534 C T 4: 134,193,034 V607I possibly damaging Het
Gtpbp10 A G 5: 5,555,355 V116A probably benign Het
Lrp1b T A 2: 40,697,444 N164I unknown Het
Nle1 T A 11: 82,904,270 T312S probably benign Het
Olfr509 T C 7: 108,646,100 I159V probably benign Het
Pim1 T A 17: 29,491,178 L12Q possibly damaging Het
Plb1 G T 5: 32,284,902 C246F probably damaging Het
Ppp4r4 T C 12: 103,590,774 probably benign Het
Prl6a1 T A 13: 27,315,423 V63D possibly damaging Het
Ptprz1 G A 6: 22,959,767 A88T probably benign Het
Ranbp3l A T 15: 9,000,787 E31V probably damaging Het
Rgs9 G A 11: 109,259,855 T209I probably benign Het
Smg8 A G 11: 87,086,608 V49A probably damaging Het
Smim6 A T 11: 115,913,488 T34S possibly damaging Het
Snw1 T G 12: 87,472,252 T4P probably benign Het
Tro A G X: 150,655,560 S34P probably benign Het
Tshr T A 12: 91,537,869 M527K probably damaging Het
Uggt1 A C 1: 36,163,261 V1085G probably damaging Het
Vmn1r21 A G 6: 57,843,862 V199A probably damaging Het
Xkr9 T C 1: 13,700,812 I184T possibly damaging Het
Zfp369 T C 13: 65,294,410 S273P probably damaging Het
Other mutations in Sod2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01012:Sod2 APN 17 13013577 missense possibly damaging 0.83
R0735:Sod2 UTSW 17 13010564 missense probably damaging 1.00
R1775:Sod2 UTSW 17 13015032 missense probably damaging 0.96
R1909:Sod2 UTSW 17 13015169 makesense probably null
R4928:Sod2 UTSW 17 13008186 missense probably benign 0.30
R6083:Sod2 UTSW 17 13008031 start gained probably benign
R6548:Sod2 UTSW 17 13008363 missense probably benign 0.01
R6670:Sod2 UTSW 17 13008365 missense possibly damaging 0.95
R7526:Sod2 UTSW 17 13008031 start gained probably benign
Z1088:Sod2 UTSW 17 13013538 missense probably damaging 1.00
Posted On2016-08-02