Incidental Mutation 'R6899:Sod3'
ID 554306
Institutional Source Beutler Lab
Gene Symbol Sod3
Ensembl Gene ENSMUSG00000072941
Gene Name superoxide dismutase 3, extracellular
Synonyms EC-SOD
MMRRC Submission 044993-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6899 (G1)
Quality Score 73.0074
Status Validated
Chromosome 5
Chromosomal Location 52521146-52527080 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 52526050 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 250 (T250A)
Ref Sequence ENSEMBL: ENSMUSP00000098768 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000101208]
AlphaFold O09164
Predicted Effect unknown
Transcript: ENSMUST00000101208
AA Change: T250A
SMART Domains Protein: ENSMUSP00000098768
Gene: ENSMUSG00000072941
AA Change: T250A

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
Meta Mutation Damage Score 0.0869 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.0%
  • 20x: 95.9%
Validation Efficiency 98% (56/57)
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: 56 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca16 A G 7: 120,126,264 (GRCm39) Y1140C probably damaging Het
Actl9 G A 17: 33,652,533 (GRCm39) G198S probably damaging Het
Adcy2 A T 13: 69,130,500 (GRCm39) M129K probably damaging Het
Apmap T A 2: 150,436,228 (GRCm39) I107F probably benign Het
Arrdc3 T C 13: 81,037,330 (GRCm39) I162T probably damaging Het
Asprv1 T C 6: 86,605,742 (GRCm39) L196P probably damaging Het
Atpsckmt A G 15: 31,617,257 (GRCm39) S163G probably benign Het
Bag2 A G 1: 33,785,912 (GRCm39) S137P possibly damaging Het
Borcs5 T A 6: 134,687,173 (GRCm39) M177K probably benign Het
C8b A T 4: 104,644,071 (GRCm39) K246M probably benign Het
Cdo1 A G 18: 46,856,407 (GRCm39) C76R probably damaging Het
Ces2b T A 8: 105,563,398 (GRCm39) probably null Het
Csf2rb G A 15: 78,224,902 (GRCm39) S194N probably benign Het
Dap3 A G 3: 88,840,907 (GRCm39) F77L probably benign Het
Dars1 A G 1: 128,341,483 (GRCm39) V44A possibly damaging Het
Dhtkd1 T A 2: 5,922,776 (GRCm39) D461V possibly damaging Het
Ero1a A C 14: 45,530,396 (GRCm39) H345Q probably benign Het
Fzd8 T A 18: 9,214,729 (GRCm39) S604T probably damaging Het
Gpatch2l G A 12: 86,290,958 (GRCm39) R47H probably damaging Het
Gramd1c T A 16: 43,860,505 (GRCm39) Y64F probably benign Het
Heatr5b T A 17: 79,110,938 (GRCm39) Y970F probably benign Het
Hoxc10 A G 15: 102,875,942 (GRCm39) E217G possibly damaging Het
Hsd17b14 A T 7: 45,212,352 (GRCm39) H128L possibly damaging Het
Idh2 TCCCAGG T 7: 79,748,079 (GRCm39) probably benign Het
Ifna9 A G 4: 88,510,300 (GRCm39) F108S probably damaging Het
Ikbke A G 1: 131,203,499 (GRCm39) V58A probably damaging Het
Inpp5e G A 2: 26,290,060 (GRCm39) R462C possibly damaging Het
Junb A G 8: 85,704,353 (GRCm39) F236L probably benign Het
Klhl36 T C 8: 120,596,881 (GRCm39) V194A probably benign Het
Lsg1 A T 16: 30,400,906 (GRCm39) D134E probably benign Het
Megf8 G T 7: 25,060,138 (GRCm39) C2343F probably damaging Het
Mtres1 T C 10: 43,408,780 (GRCm39) E121G possibly damaging Het
Myom3 G A 4: 135,530,603 (GRCm39) G1172R probably damaging Het
Nasp A T 4: 116,461,530 (GRCm39) V548E probably damaging Het
Nubpl T A 12: 52,357,536 (GRCm39) S317T probably benign Het
Nup210l A G 3: 90,075,204 (GRCm39) D838G possibly damaging Het
Oxsr1 C T 9: 119,076,188 (GRCm39) A373T probably benign Het
Psat1 C T 19: 15,895,569 (GRCm39) probably null Het
Rsrc1 C T 3: 66,901,982 (GRCm39) P44L unknown Het
Slain1 C T 14: 103,888,215 (GRCm39) P45L possibly damaging Het
Slc16a8 A G 15: 79,137,949 (GRCm39) V20A possibly damaging Het
Slc22a13 A T 9: 119,025,473 (GRCm39) M145K probably damaging Het
Slc22a4 G A 11: 53,879,739 (GRCm39) T440I probably damaging Het
Slc39a12 C T 2: 14,394,352 (GRCm39) P74L probably damaging Het
Syne2 A G 12: 76,142,503 (GRCm39) probably null Het
Tctn1 A G 5: 122,387,019 (GRCm39) Y299H probably damaging Het
Tfcp2l1 A G 1: 118,603,305 (GRCm39) M448V probably benign Het
Tfpi C T 2: 84,275,153 (GRCm39) G152S probably damaging Het
Thap4 A G 1: 93,678,691 (GRCm39) S32P probably damaging Het
Tmem132c T A 5: 127,628,744 (GRCm39) W549R probably damaging Het
Vmn2r29 T C 7: 7,244,641 (GRCm39) E411G probably damaging Het
Washc4 C A 10: 83,411,919 (GRCm39) D683E probably benign Het
Wdr3 A T 3: 100,057,217 (GRCm39) V462D possibly damaging Het
Wdr5b T C 16: 35,862,150 (GRCm39) S90P probably damaging Het
Zfp407 A G 18: 84,579,559 (GRCm39) L518P possibly damaging Het
Zfp53 A G 17: 21,728,707 (GRCm39) I247V possibly damaging Het
Other mutations in Sod3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01074:Sod3 APN 5 52,525,540 (GRCm39) nonsense probably null
IGL02894:Sod3 APN 5 52,525,348 (GRCm39) missense possibly damaging 0.70
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
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
Predicted Primers PCR Primer
(F):5'- ACTTTGGCAACTTCGTGGTG -3'
(R):5'- CATGGGAGAACATCTAGGGTGC -3'

Sequencing Primer
(F):5'- AACTTCGTGGTGCGCAAC -3'
(R):5'- CATCTGGGGGCCATACAGAG -3'
Posted On 2019-05-20