Incidental Mutation 'R6670:Sod2'
| ID |
527118 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Sod2
|
| Ensembl Gene |
ENSMUSG00000006818 |
| Gene Name |
superoxide dismutase 2, mitochondrial |
| Synonyms |
Sod-2, manganese superoxide dismutase, manganese SOD, MnSOD |
| MMRRC Submission |
044790-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R6670 (G1)
|
| Quality Score |
166.009 |
|
Status
|
Validated
|
| Chromosome |
17 |
| Chromosomal Location |
13226726-13237006 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 13227252 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Asparagine
at position 69
(Y69N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000007012
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000007012]
|
| AlphaFold |
P09671 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000007012
AA Change: Y69N
PolyPhen 2
Score 0.946 (Sensitivity: 0.80; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000007012
Gene: ENSMUSG00000006818
AA Change: Y69N
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Sod_Fe_N
|
25 |
106 |
1e-34 |
PFAM |
|
Pfam:Sod_Fe_C
|
113 |
216 |
8.1e-41 |
PFAM |
|
| Meta Mutation Damage Score |
0.3203 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.7%
- 20x: 96.6%
|
| Validation Efficiency |
100% (38/38) |
| 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: 35 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc2 |
A |
G |
19: 43,827,850 (GRCm39) |
1544 |
probably benign |
Het |
| Acsm3 |
T |
A |
7: 119,379,978 (GRCm39) |
|
probably null |
Het |
| AW551984 |
T |
C |
9: 39,504,292 (GRCm39) |
D558G |
probably damaging |
Het |
| Bcl9l |
GTGAACATGAACATGAACATGAAC |
GTGAACATGAACATGAACATGAACATGAAC |
9: 44,418,369 (GRCm39) |
|
probably benign |
Het |
| Brd8dc |
A |
G |
18: 34,719,319 (GRCm39) |
V167A |
possibly damaging |
Het |
| Ccdc12 |
T |
G |
9: 110,537,595 (GRCm39) |
|
probably null |
Het |
| Ctsl |
T |
C |
13: 64,511,916 (GRCm39) |
|
probably null |
Het |
| Cul1 |
T |
A |
6: 47,494,068 (GRCm39) |
D460E |
probably damaging |
Het |
| Dnttip2 |
T |
A |
3: 122,069,870 (GRCm39) |
S362T |
probably damaging |
Het |
| Fbxw16 |
T |
A |
9: 109,267,280 (GRCm39) |
D317V |
probably damaging |
Het |
| Fbxw9 |
T |
A |
8: 85,788,839 (GRCm39) |
N196K |
possibly damaging |
Het |
| Grap |
A |
G |
11: 61,551,064 (GRCm39) |
D32G |
probably damaging |
Het |
| Hhatl |
T |
C |
9: 121,618,137 (GRCm39) |
D206G |
probably damaging |
Het |
| Hrnr |
A |
T |
3: 93,239,192 (GRCm39) |
Q3143H |
unknown |
Het |
| Ighv1-62-1 |
T |
C |
12: 115,350,529 (GRCm39) |
Y46C |
probably damaging |
Het |
| Krtap16-3 |
A |
T |
16: 88,759,540 (GRCm39) |
Y58N |
unknown |
Het |
| Mef2c |
A |
G |
13: 83,810,716 (GRCm39) |
K384R |
probably damaging |
Het |
| Nalcn |
A |
G |
14: 123,702,084 (GRCm39) |
Y476H |
possibly damaging |
Het |
| Oxgr1 |
A |
T |
14: 120,259,669 (GRCm39) |
N179K |
probably damaging |
Het |
| Polk |
G |
A |
13: 96,633,138 (GRCm39) |
Q302* |
probably null |
Het |
| Rab3gap1 |
T |
A |
1: 127,858,512 (GRCm39) |
S540R |
probably benign |
Het |
| Samd5 |
A |
T |
10: 9,504,808 (GRCm39) |
|
probably null |
Het |
| Sema6d |
GTGATAC |
G |
2: 124,496,762 (GRCm39) |
|
probably benign |
Het |
| Slc1a6 |
C |
A |
10: 78,623,646 (GRCm39) |
A15D |
probably benign |
Het |
| Slc8a1 |
A |
G |
17: 81,956,883 (GRCm39) |
C52R |
probably damaging |
Het |
| Tank |
T |
C |
2: 61,474,768 (GRCm39) |
|
probably null |
Het |
| Tbc1d23 |
A |
T |
16: 57,034,580 (GRCm39) |
I73N |
probably benign |
Het |
| Tnf |
A |
C |
17: 35,420,800 (GRCm39) |
M6R |
possibly damaging |
Het |
| Trmt2a |
C |
T |
16: 18,068,341 (GRCm39) |
A16V |
possibly damaging |
Het |
| Ttn |
A |
G |
2: 76,556,055 (GRCm39) |
Y21990H |
probably damaging |
Het |
| Uaca |
C |
T |
9: 60,779,306 (GRCm39) |
S1231L |
probably benign |
Het |
| Ubr1 |
A |
G |
2: 120,754,611 (GRCm39) |
|
probably null |
Het |
| Unc13b |
A |
G |
4: 43,255,562 (GRCm39) |
D3849G |
probably damaging |
Het |
| Vmn2r75 |
T |
A |
7: 85,797,644 (GRCm39) |
D723V |
probably damaging |
Het |
| Wnt2 |
C |
A |
6: 18,028,091 (GRCm39) |
V48L |
possibly damaging |
Het |
|
| Other mutations in Sod2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01012:Sod2
|
APN |
17 |
13,232,464 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
IGL03170:Sod2
|
APN |
17 |
13,227,257 (GRCm39) |
missense |
probably benign |
|
|
R0735:Sod2
|
UTSW |
17 |
13,229,451 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1775:Sod2
|
UTSW |
17 |
13,233,919 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R1909:Sod2
|
UTSW |
17 |
13,234,056 (GRCm39) |
makesense |
probably null |
|
|
R4928:Sod2
|
UTSW |
17 |
13,227,073 (GRCm39) |
missense |
probably benign |
0.30 |
|
R6083:Sod2
|
UTSW |
17 |
13,226,918 (GRCm39) |
start gained |
probably benign |
|
|
R6548:Sod2
|
UTSW |
17 |
13,227,250 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7526:Sod2
|
UTSW |
17 |
13,226,918 (GRCm39) |
start gained |
probably benign |
|
|
R8816:Sod2
|
UTSW |
17 |
13,227,253 (GRCm39) |
missense |
probably benign |
0.08 |
|
R8929:Sod2
|
UTSW |
17 |
13,233,974 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8931:Sod2
|
UTSW |
17 |
13,227,193 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9767:Sod2
|
UTSW |
17 |
13,227,180 (GRCm39) |
missense |
probably benign |
0.03 |
|
Z1088:Sod2
|
UTSW |
17 |
13,232,425 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- CAATAATGTTGTGTCGGGCG -3'
(R):5'- CACAACAGTAAGGTCCGTCAAG -3'
Sequencing Primer
(F):5'- TGTTCCTCTCAGCACGGG -3'
(R):5'- CAGTAAGGTCCGTCAAGTACTTTCG -3'
|
| Posted On |
2018-07-23 |
Incidental Mutation