Incidental Mutation 'IGL02894:Sod3'
ID 363343
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Sod3
Ensembl Gene ENSMUSG00000072941
Gene Name superoxide dismutase 3, extracellular
Synonyms EC-SOD
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL02894
Quality Score
Status
Chromosome 5
Chromosomal Location 52521146-52527080 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to G at 52525348 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Alanine at position 16 (S16A)
Ref Sequence ENSEMBL: ENSMUSP00000098768 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000101208]
AlphaFold O09164
Predicted Effect possibly damaging
Transcript: ENSMUST00000101208
AA Change: S16A

PolyPhen 2 Score 0.705 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000098768
Gene: ENSMUSG00000072941
AA Change: S16A

DomainStartEndE-ValueType
signal peptide 1 20 N/A INTRINSIC
Pfam:Sod_Cu 85 224 1.5e-32 PFAM
low complexity region 233 251 N/A INTRINSIC
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 encodes a member of the superoxide dismutase (SOD) protein family. SODs are antioxidant enzymes that catalyze the conversion of superoxide radicals into hydrogen peroxide and oxygen, which may protect the brain, lungs, and other tissues from oxidative stress. Proteolytic processing of the encoded protein results in the formation of two distinct homotetramers that differ in their ability to interact with the extracellular matrix (ECM). Homotetramers consisting of the intact protein, or type C subunit, exhibit high affinity for heparin and are anchored to the ECM. Homotetramers consisting of a proteolytically cleaved form of the protein, or type A subunit, exhibit low affinity for heparin and do not interact with the ECM. A mutation in this gene may be associated with increased heart disease risk. [provided by RefSeq, Oct 2015]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit increased sensitivity to hyperoxia, increased LPS-stimulated spleen production of TNF, and enhanced severity of collagen-induced arthritis. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A630023A22Rik T A 14: 33,776,817 (GRCm39) probably benign Het
Aurka T A 2: 172,208,868 (GRCm39) probably null Het
Cacna2d3 C T 14: 28,786,276 (GRCm39) probably null Het
Cdh12 A G 15: 21,586,380 (GRCm39) Y733C probably damaging Het
Cdon A T 9: 35,366,722 (GRCm39) E199D probably benign Het
Celsr2 A T 3: 108,302,526 (GRCm39) L558Q probably damaging Het
Clcnkb C A 4: 141,135,130 (GRCm39) R536L probably benign Het
Cyp3a11 G A 5: 145,805,836 (GRCm39) Q151* probably null Het
Dnah7a A T 1: 53,616,487 (GRCm39) V1158E probably benign Het
Dnah8 G T 17: 30,940,084 (GRCm39) E1677* probably null Het
Dock3 T C 9: 106,807,298 (GRCm39) N1343S probably benign Het
Dock6 T A 9: 21,723,111 (GRCm39) E1603D probably damaging Het
Fam91a1 C T 15: 58,315,080 (GRCm39) T589M probably benign Het
Fat2 T A 11: 55,147,479 (GRCm39) N3921I probably damaging Het
Gm10188 A G 1: 132,157,037 (GRCm39) probably benign Het
Grid2ip A G 5: 143,376,863 (GRCm39) E976G probably benign Het
Hapln3 G T 7: 78,771,521 (GRCm39) Q123K probably benign Het
Hnrnpul1 G A 7: 25,450,329 (GRCm39) P128S possibly damaging Het
Hsd3b1 T A 3: 98,760,245 (GRCm39) I249F possibly damaging Het
Kbtbd3 A T 9: 4,331,444 (GRCm39) H606L probably benign Het
Krt82 T C 15: 101,451,155 (GRCm39) Y418C probably damaging Het
Mcm3ap C A 10: 76,313,601 (GRCm39) A565E probably benign Het
Minar1 T G 9: 89,485,155 (GRCm39) I81L probably damaging Het
Naip2 A G 13: 100,297,505 (GRCm39) S844P probably damaging Het
Naip2 C T 13: 100,320,297 (GRCm39) V240I probably benign Het
Notch2 T A 3: 98,009,748 (GRCm39) C558* probably null Het
Npdc1 T A 2: 25,298,007 (GRCm39) H185Q probably benign Het
Or2a25 A T 6: 42,888,451 (GRCm39) probably benign Het
Or4c31 T G 2: 88,292,070 (GRCm39) Y148D probably damaging Het
Or5d37 T C 2: 87,924,107 (GRCm39) I58V possibly damaging Het
Osbpl3 A T 6: 50,323,312 (GRCm39) I257N possibly damaging Het
Pkd1l2 T A 8: 117,740,630 (GRCm39) T2156S probably damaging Het
Ppp1r13b A G 12: 111,797,888 (GRCm39) probably benign Het
Ppp3ca C A 3: 136,503,573 (GRCm39) H49N probably damaging Het
Prrc2c A T 1: 162,505,626 (GRCm39) L1100I probably damaging Het
Ptpn21 A C 12: 98,655,891 (GRCm39) probably benign Het
Ptpn7 A T 1: 135,070,906 (GRCm39) M332L probably damaging Het
Ptprq T A 10: 107,503,285 (GRCm39) Q791L probably benign Het
Ptprz1 G A 6: 23,035,148 (GRCm39) R1966H probably damaging Het
Ralgapa1 T A 12: 55,763,854 (GRCm39) Q1404L possibly damaging Het
Reln C A 5: 22,090,546 (GRCm39) M3437I possibly damaging Het
S100a7l2 A T 3: 90,995,700 (GRCm39) F67L probably benign Het
Slc13a1 T C 6: 24,137,041 (GRCm39) probably benign Het
Slc4a11 T C 2: 130,529,075 (GRCm39) probably null Het
Slc9a2 A G 1: 40,802,762 (GRCm39) E604G probably benign Het
Taok3 A G 5: 117,401,678 (GRCm39) I650V probably benign Het
Uggt2 T C 14: 119,319,211 (GRCm39) I270M probably damaging Het
Ugt3a1 T A 15: 9,367,487 (GRCm39) I410N probably damaging Het
Ush2a G A 1: 188,184,043 (GRCm39) S1449N probably damaging Het
Usp29 A T 7: 6,964,633 (GRCm39) M159L probably benign Het
Vmn1r122 A T 7: 20,867,649 (GRCm39) F135L probably benign Het
Wdr11 T C 7: 129,232,890 (GRCm39) probably benign Het
Zc3h14 T A 12: 98,725,202 (GRCm39) probably null Het
Zfp955a A T 17: 33,461,426 (GRCm39) C235* probably null Het
Other mutations in Sod3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01074:Sod3 APN 5 52,525,540 (GRCm39) nonsense probably null
R0646:Sod3 UTSW 5 52,525,421 (GRCm39) missense probably benign 0.02
R1822:Sod3 UTSW 5 52,525,504 (GRCm39) missense probably benign 0.07
R1823:Sod3 UTSW 5 52,525,504 (GRCm39) missense probably benign 0.07
R1824:Sod3 UTSW 5 52,525,504 (GRCm39) missense probably benign 0.07
R3872:Sod3 UTSW 5 52,525,631 (GRCm39) missense probably damaging 0.98
R3934:Sod3 UTSW 5 52,525,987 (GRCm39) missense probably benign 0.00
R4969:Sod3 UTSW 5 52,525,736 (GRCm39) missense probably damaging 1.00
R6899:Sod3 UTSW 5 52,526,050 (GRCm39) missense unknown
R7773:Sod3 UTSW 5 52,525,643 (GRCm39) missense possibly damaging 0.94
R8964:Sod3 UTSW 5 52,525,696 (GRCm39) missense probably damaging 1.00
R9779:Sod3 UTSW 5 52,525,435 (GRCm39) missense probably benign 0.20
Posted On 2015-12-18