Mutagenetix > Incidental Mutation

Incidental Mutation 'R8774:Sod1'

664629

Institutional Source

Beutler Lab

Gene Symbol

Sod1

Ensembl Gene

ENSMUSG00000022982

Gene Name

superoxide dismutase 1, soluble

Synonyms

Ipo1, Cu(2+)-Zn2+ superoxide dismutase, Cu/Zn-SOD, SODC, Sod-1, CuZnSOD, B430204E11Rik, Ipo-1

MMRRC Submission

068628-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.946) question?

Stock #

R8774 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

90017650-90023221 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 90023039 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Glycine at position 120 (V120G)

Ref Sequence

ENSEMBL: ENSMUSP00000023707 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000023707] [ENSMUST00000039280] [ENSMUST00000163419] [ENSMUST00000232371]

AlphaFold

P08228

PDB Structure

Mouse SOD1 [X-RAY DIFFRACTION]
Human-mouse SOD1 chimera [X-RAY DIFFRACTION]
Mouse-human sod1 chimera [X-RAY DIFFRACTION]

Predicted Effect

probably damaging
Transcript: ENSMUST00000023707
AA Change: V120G

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000023707
Gene: ENSMUSG00000022982
AA Change: V120G

Domain	Start	End	E-Value	Type
Pfam:Sod_Cu	9	150	2.2e-51	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000039280

SMART Domains

Protein: ENSMUSP00000044472
Gene: ENSMUSG00000022983

Domain	Start	End	E-Value	Type
RPR	6	136	7.8e-48	SMART
low complexity region	190	214	N/A	INTRINSIC
low complexity region	272	313	N/A	INTRINSIC
low complexity region	360	389	N/A	INTRINSIC
low complexity region	390	418	N/A	INTRINSIC
low complexity region	420	448	N/A	INTRINSIC
low complexity region	496	558	N/A	INTRINSIC
RRM	574	643	7.47e-14	SMART
low complexity region	719	757	N/A	INTRINSIC
low complexity region	762	829	N/A	INTRINSIC
low complexity region	871	886	N/A	INTRINSIC
low complexity region	937	980	N/A	INTRINSIC
low complexity region	983	997	N/A	INTRINSIC
low complexity region	1006	1046	N/A	INTRINSIC
low complexity region	1082	1096	N/A	INTRINSIC
low complexity region	1111	1145	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000163419

SMART Domains

Protein: ENSMUSP00000132250
Gene: ENSMUSG00000022983

Domain	Start	End	E-Value	Type
RPR	6	136	7.8e-48	SMART
low complexity region	190	214	N/A	INTRINSIC
low complexity region	272	313	N/A	INTRINSIC
low complexity region	360	389	N/A	INTRINSIC
low complexity region	390	418	N/A	INTRINSIC
low complexity region	420	448	N/A	INTRINSIC
low complexity region	496	554	N/A	INTRINSIC
RRM	570	639	7.47e-14	SMART
low complexity region	715	753	N/A	INTRINSIC
low complexity region	758	825	N/A	INTRINSIC
low complexity region	845	860	N/A	INTRINSIC
low complexity region	911	954	N/A	INTRINSIC
low complexity region	957	971	N/A	INTRINSIC
low complexity region	980	1020	N/A	INTRINSIC
low complexity region	1056	1070	N/A	INTRINSIC
low complexity region	1085	1119	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000232371

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.2%

Validation Efficiency

100% (67/67)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene binds copper and zinc ions and is one of two isozymes responsible for destroying free superoxide radicals in the body. The encoded isozyme is a soluble cytoplasmic protein, acting as a homodimer to convert naturally-occuring but harmful superoxide radicals to molecular oxygen and hydrogen peroxide. The other isozyme is a mitochondrial protein. Mutations in this gene have been implicated as causes of familial amyotrophic lateral sclerosis. Rare transcript variants have been reported for this gene. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous mutants exhibit increased motor neuron loss after axonal injury and enhanced susceptibility to ischemic reperfusion injury. Homozygous females have irregular and small litters, and for some alleles exhibit immature ovarian follicles with few corpora lutea. [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
Abca1	A	G	4: 53,090,358 (GRCm39)	S364P	possibly damaging	Het
Abcc2	T	A	19: 43,787,577 (GRCm39)	Y208N	probably damaging	Het
Acy1	A	T	9: 106,313,913 (GRCm39)	D82E	probably damaging	Het
Ankub1	A	G	3: 57,597,802 (GRCm39)	L56P	probably damaging	Het
Aoc1	T	A	6: 48,885,529 (GRCm39)	F678Y	probably damaging	Het
Asxl3	C	A	18: 22,657,101 (GRCm39)	Q1704K	probably damaging	Het
Atg9b	T	C	5: 24,595,571 (GRCm39)	D236G	probably damaging	Het
Auh	A	T	13: 52,993,631 (GRCm39)	M261K	probably benign	Het
C2cd6	A	T	1: 59,099,825 (GRCm39)	M372K	possibly damaging	Het
Ccdc88b	A	T	19: 6,825,090 (GRCm39)	N1287K	probably damaging	Het
Cebpz	A	G	17: 79,229,073 (GRCm39)	S958P	probably benign	Het
Cgn	T	A	3: 94,680,810 (GRCm39)	Q576L	probably damaging	Het
Chd7	T	A	4: 8,854,692 (GRCm39)	M2011K	probably damaging	Het
Cntnap4	A	G	8: 113,529,820 (GRCm39)	E676G	probably benign	Het
Cspp1	A	T	1: 10,183,139 (GRCm39)	E781D	possibly damaging	Het
Cyb5d2	A	C	11: 72,679,901 (GRCm39)		probably null	Het
Epn3	G	T	11: 94,383,220 (GRCm39)	P335T	possibly damaging	Het
Far2	T	A	6: 148,047,629 (GRCm39)	S103T	probably benign	Het
Fhip1a	G	C	3: 85,580,097 (GRCm39)	Q703E	probably benign	Het
Fhl2	A	G	1: 43,162,751 (GRCm39)	S255P	probably damaging	Het
Fmnl2	T	A	2: 52,932,321 (GRCm39)	V100D		Het
Gabbr1	T	C	17: 37,382,749 (GRCm39)	L814P	probably damaging	Het
Gzmg	C	T	14: 56,394,193 (GRCm39)	V234I	probably benign	Het
Ift172	A	G	5: 31,415,207 (GRCm39)	V1334A	probably benign	Het
Itga8	C	G	2: 12,187,495 (GRCm39)	G728A	probably damaging	Het
Klrg1	T	C	6: 122,255,193 (GRCm39)	T80A	probably benign	Het
Lrp4	A	G	2: 91,308,043 (GRCm39)	N496S	probably benign	Het
Lsmem1	G	T	12: 40,227,145 (GRCm39)	N113K	probably damaging	Het
Map3k2	G	A	18: 32,345,117 (GRCm39)	S314N	probably damaging	Het
Mtpap	C	T	18: 4,387,032 (GRCm39)	R361*	probably null	Het
Muc5b	T	A	7: 141,418,831 (GRCm39)	S3926T	probably benign	Het
Nat10	C	A	2: 103,561,752 (GRCm39)	R643L	probably damaging	Het
Ncbp3	T	C	11: 72,938,808 (GRCm39)	V28A	probably benign	Het
Nlrp9a	T	C	7: 26,257,984 (GRCm39)	L534P	possibly damaging	Het
Nmi	T	C	2: 51,848,974 (GRCm39)	K39E	probably benign	Het
Nxpe4	A	G	9: 48,304,692 (GRCm39)	N260D	probably benign	Het
Or4k38	T	C	2: 111,166,318 (GRCm39)	Y35C	probably damaging	Het
Or51aa2	C	A	7: 103,187,965 (GRCm39)	V159L	probably benign	Het
Or6c213	T	A	10: 129,573,926 (GRCm39)	I287F	probably damaging	Het
Or8c19-ps1	G	A	9: 38,220,600 (GRCm39)	A170T	unknown	Het
Phf2	G	T	13: 48,971,878 (GRCm39)		probably benign	Het
Pirb	G	T	7: 3,720,728 (GRCm39)	L257M	probably damaging	Het
Plcg2	A	T	8: 118,306,585 (GRCm39)	D313V	possibly damaging	Het
Ppard	G	A	17: 28,517,864 (GRCm39)	V311I	possibly damaging	Het
Ptcd1	A	T	5: 145,092,175 (GRCm39)	M308K	probably damaging	Het
Pygo1	A	G	9: 72,852,436 (GRCm39)	N208D	possibly damaging	Het
Robo1	T	G	16: 72,832,719 (GRCm39)	D1497E	probably benign	Het
Sdk2	T	C	11: 113,730,169 (GRCm39)	D1022G	probably damaging	Het
Shc3	G	A	13: 51,615,475 (GRCm39)	H161Y	probably damaging	Het
Slc15a1	G	T	14: 121,724,423 (GRCm39)	Q150K	probably damaging	Het
Slc6a11	C	A	6: 114,206,995 (GRCm39)		probably benign	Het
Spata31g1	T	C	4: 42,971,087 (GRCm39)	L140P	probably damaging	Het
Sprr2f	T	A	3: 92,273,323 (GRCm39)	C41S	unknown	Het
Svil	A	T	18: 5,049,068 (GRCm39)	Y115F	probably damaging	Het
Tdp1	T	C	12: 99,877,917 (GRCm39)	S400P	probably damaging	Het
Thbs4	A	T	13: 92,898,030 (GRCm39)	D596E	probably damaging	Het
Tshz1	T	A	18: 84,033,101 (GRCm39)	M436L	possibly damaging	Het
Ube3c	C	T	5: 29,812,029 (GRCm39)	T423I	probably benign	Het
Unc93a	A	T	17: 13,341,837 (GRCm39)	I98N	probably damaging	Het
Usp33	T	A	3: 152,085,213 (GRCm39)	Y624*	probably null	Het
Utp20	A	G	10: 88,588,763 (GRCm39)		probably benign	Het
Vmn1r217	T	A	13: 23,298,108 (GRCm39)	M265L	probably benign	Het
Vmn1r222	A	T	13: 23,416,418 (GRCm39)	M265K	probably benign	Het
Vmn2r16	C	T	5: 109,488,231 (GRCm39)	T368M	probably benign	Het
Zfp867	A	G	11: 59,354,837 (GRCm39)	F164S	probably damaging	Het
Zswim1	C	T	2: 164,668,062 (GRCm39)	T438I	probably benign	Het

Other mutations in Sod1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02061:Sod1	APN	16	90,022,126 (GRCm39)	missense	probably benign	0.01
R0930:Sod1	UTSW	16	90,022,071 (GRCm39)	missense	probably benign
R2168:Sod1	UTSW	16	90,017,801 (GRCm39)	missense	possibly damaging	0.85
R4904:Sod1	UTSW	16	90,019,732 (GRCm39)	missense	probably damaging	1.00
R7538:Sod1	UTSW	16	90,023,114 (GRCm39)	nonsense	probably null
R8774-TAIL:Sod1	UTSW	16	90,023,039 (GRCm39)	missense	probably damaging	1.00
R9756:Sod1	UTSW	16	90,017,753 (GRCm39)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- AGGAGCTAAGATCAGCATGTACC -3'
(R):5'- CATTGCTGTCCTTAGCCCAG -3'

Sequencing Primer
(F):5'- GATCAGCATGTACCTGGTAGTTAC -3'
(R):5'- TGTCCTTAGCCCAGTCAAAGGAG -3'

Posted On

2021-03-08