Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01012:Sod2'

54046

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Sod2

Ensembl Gene

ENSMUSG00000006818

Gene Name

superoxide dismutase 2, mitochondrial

Synonyms

Sod-2, manganese superoxide dismutase, manganese SOD, MnSOD

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL01012

Quality Score

Status

Chromosome

Chromosomal Location

13226726-13237006 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 13232464 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Valine at position 163 (A163V)

Ref Sequence

ENSEMBL: ENSMUSP00000007012 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000007012]

AlphaFold

P09671

Predicted Effect

possibly damaging
Transcript: ENSMUST00000007012
AA Change: A163V

PolyPhen 2 Score 0.829 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000007012
Gene: ENSMUSG00000006818
AA Change: A163V

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

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: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ablim3	A	T	18: 61,972,772 (GRCm39)	M249K	possibly damaging	Het
Adamtsl1	T	C	4: 86,260,426 (GRCm39)	F879S	possibly damaging	Het
Afap1l2	T	C	19: 56,918,693 (GRCm39)	E30G	probably damaging	Het
Aqp9	A	G	9: 71,037,831 (GRCm39)		probably benign	Het
Arhgap17	A	T	7: 122,885,791 (GRCm39)		probably benign	Het
Arhgef10	T	C	8: 15,029,977 (GRCm39)	S921P	probably damaging	Het
Atp6v0e2	T	C	6: 48,514,749 (GRCm39)	I22T	probably damaging	Het
AY074887	C	T	9: 54,857,963 (GRCm39)		probably benign	Het
Bcl2l15	T	A	3: 103,740,730 (GRCm39)	D65E	probably damaging	Het
C2cd6	A	T	1: 59,036,507 (GRCm39)		probably benign	Het
Ccdc138	G	A	10: 58,376,737 (GRCm39)		probably null	Het
Ccdc7b	A	G	8: 129,904,838 (GRCm39)	T159A	possibly damaging	Het
Ccser1	A	G	6: 61,615,474 (GRCm39)	T659A	probably benign	Het
Cd300ld2	T	A	11: 114,903,123 (GRCm39)	I241F	probably benign	Het
Cep192	T	A	18: 67,945,477 (GRCm39)	N192K	possibly damaging	Het
Csmd1	T	C	8: 15,967,341 (GRCm39)	K3174R	probably benign	Het
Dpy30	A	T	17: 74,614,749 (GRCm39)	L65I	probably damaging	Het
Eci2	A	T	13: 35,174,312 (GRCm39)	L83*	probably null	Het
F7	A	T	8: 13,083,409 (GRCm39)	E183V	probably damaging	Het
Gabrg1	T	C	5: 70,935,512 (GRCm39)	K214R	probably benign	Het
Galr2	A	T	11: 116,173,996 (GRCm39)	T209S	probably damaging	Het
Gimap9	T	C	6: 48,654,851 (GRCm39)		probably null	Het
Gip	C	A	11: 95,916,285 (GRCm39)	F28L	probably benign	Het
Gpd2	A	G	2: 57,254,542 (GRCm39)	N662S	probably benign	Het
Grik2	T	G	10: 49,149,052 (GRCm39)	D511A	probably damaging	Het
Ift122	T	A	6: 115,876,452 (GRCm39)	Y563N	probably damaging	Het
Ipo8	A	G	6: 148,690,561 (GRCm39)		probably benign	Het
Islr	T	C	9: 58,064,511 (GRCm39)	E332G	probably damaging	Het
Itgb7	G	A	15: 102,136,020 (GRCm39)	S5L	probably benign	Het
Itpr2	G	A	6: 146,246,659 (GRCm39)	R1087W	probably damaging	Het
Katnal2	C	A	18: 77,105,250 (GRCm39)	V66F	probably damaging	Het
Krt81	T	C	15: 101,358,900 (GRCm39)	D284G	probably benign	Het
Krtap4-8	T	A	11: 99,670,831 (GRCm39)		probably benign	Het
Map1s	C	A	8: 71,366,554 (GRCm39)	N486K	probably benign	Het
Med13l	G	A	5: 118,872,093 (GRCm39)	D842N	probably damaging	Het
Mef2c	T	A	13: 83,803,714 (GRCm39)	M306K	probably damaging	Het
Myb	C	T	10: 21,022,159 (GRCm39)	V377I	probably benign	Het
Myocd	C	T	11: 65,075,451 (GRCm39)	G558R	possibly damaging	Het
Nars1	G	T	18: 64,638,039 (GRCm39)	A305E	probably damaging	Het
Neb	A	T	2: 52,086,373 (GRCm39)	N5233K	probably benign	Het
Nipsnap2	T	C	5: 129,823,503 (GRCm39)	I181T	possibly damaging	Het
Or10d4b	A	T	9: 39,534,661 (GRCm39)	M81L	probably benign	Het
Or1s2	T	C	19: 13,758,937 (GRCm39)		probably benign	Het
P3h2	A	C	16: 25,805,998 (GRCm39)	C282G	probably damaging	Het
Pcgf5	T	A	19: 36,420,268 (GRCm39)	C167S	probably damaging	Het
Pck2	T	C	14: 55,781,526 (GRCm39)		probably benign	Het
Peli2	C	T	14: 48,490,187 (GRCm39)	R169*	probably null	Het
Pramel16	T	A	4: 143,676,784 (GRCm39)		probably benign	Het
Psme3ip1	G	A	8: 95,313,990 (GRCm39)	R104W	probably damaging	Het
Ralgapa2	T	A	2: 146,263,659 (GRCm39)	Q686L	possibly damaging	Het
Scap	C	A	9: 110,191,488 (GRCm39)	P50H	probably damaging	Het
Sh3rf2	T	A	18: 42,187,257 (GRCm39)	D125E	possibly damaging	Het
Slc25a38	T	C	9: 119,945,560 (GRCm39)		probably benign	Het
Slc35a5	A	G	16: 44,964,195 (GRCm39)	V346A	probably damaging	Het
Smad4	T	A	18: 73,808,880 (GRCm39)	N129I	probably damaging	Het
Spred3	T	A	7: 28,860,948 (GRCm39)		probably benign	Het
Stag1	C	A	9: 100,737,912 (GRCm39)	A423E	possibly damaging	Het
Stk17b	A	T	1: 53,800,196 (GRCm39)	S261T	probably benign	Het
Stx3	T	C	19: 11,769,152 (GRCm39)	K58E	probably damaging	Het
Timm10b	C	A	7: 105,290,345 (GRCm39)	Y79*	probably null	Het
Tmem204	T	C	17: 25,289,329 (GRCm39)	D97G	probably damaging	Het
Tnfrsf25	T	C	4: 152,202,885 (GRCm39)	V181A	probably benign	Het
Trim54	T	G	5: 31,294,302 (GRCm39)	S313A	probably benign	Het
Unc79	T	A	12: 103,078,714 (GRCm39)	D1433E	probably damaging	Het
Vmn2r23	A	G	6: 123,706,555 (GRCm39)	T462A	probably benign	Het
Wdr27	T	A	17: 15,146,509 (GRCm39)	H162L	probably damaging	Het

Other mutations in Sod2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
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
R6670:Sod2	UTSW	17	13,227,252 (GRCm39)	missense	possibly damaging	0.95
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

Posted On

2013-06-28