Incidental Mutation 'IGL02061:Sod1'
ID 185419
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Sod1
Ensembl Gene ENSMUSG00000022982
Gene Name superoxide dismutase 1, soluble
Synonyms Cu/Zn-SOD, CuZnSOD, SODC, Ipo1, Cu(2+)-Zn2+ superoxide dismutase, Ipo-1, Sod-1, B430204E11Rik
Accession Numbers
Is this an essential gene? Probably essential (E-score: 0.953) question?
Stock # IGL02061
Quality Score
Status
Chromosome 16
Chromosomal Location 90220754-90226329 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) T to A at 90225238 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Histidine to Glutamine at position 111 (H111Q)
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 benign
Transcript: ENSMUST00000023707
AA Change: H111Q

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
SMART Domains Protein: ENSMUSP00000023707
Gene: ENSMUSG00000022982
AA Change: H111Q

DomainStartEndE-ValueType
Pfam:Sod_Cu 9 150 2.2e-51 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000039280
SMART Domains Protein: ENSMUSP00000044472
Gene: ENSMUSG00000022983

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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 noncoding transcript
Transcript: ENSMUST00000231594
Predicted Effect noncoding transcript
Transcript: ENSMUST00000232000
Predicted Effect probably benign
Transcript: ENSMUST00000232371
Predicted Effect noncoding transcript
Transcript: ENSMUST00000232505
Coding Region Coverage
Validation Efficiency
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: 35 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Arl15 T A 13: 113,794,657 D3E probably benign Het
Atp4a A G 7: 30,715,029 Y159C probably damaging Het
Card10 A G 15: 78,778,215 F861S probably damaging Het
Ccdc85c A G 12: 108,221,743 V279A probably damaging Het
Cndp1 G A 18: 84,634,626 R136W probably damaging Het
Eif2b3 A G 4: 117,028,411 E50G possibly damaging Het
Eva1c C T 16: 90,866,275 Q67* probably null Het
Exoc1 A G 5: 76,542,120 E169G probably damaging Het
Fam189b C T 3: 89,188,596 R545* probably null Het
Fsd2 T A 7: 81,540,424 K537* probably null Het
Gbf1 T G 19: 46,279,258 S1236A possibly damaging Het
Gpt C A 15: 76,699,417 probably benign Het
Gsap A G 5: 21,281,611 probably benign Het
Hdac6 A C X: 7,943,639 probably null Het
Ivns1abp T A 1: 151,351,573 L44Q probably damaging Het
Kcnt1 T A 2: 25,900,482 probably null Het
Kdm2b A G 5: 122,883,341 I58T probably damaging Het
Mrpl23 C T 7: 142,540,582 P76S probably benign Het
Nbea A G 3: 55,717,887 I2261T possibly damaging Het
Oasl1 G A 5: 114,923,592 V61M probably damaging Het
Olfr1288 T A 2: 111,479,269 F162I possibly damaging Het
Pabpc2 A G 18: 39,774,993 Q437R probably benign Het
Ppp1r26 T A 2: 28,450,627 C90S possibly damaging Het
Ppp3ca A G 3: 136,797,863 T66A probably benign Het
Prss55 A G 14: 64,075,743 Y231H possibly damaging Het
Psmb10 T C 8: 105,937,711 T38A probably damaging Het
Rfx5 A G 3: 94,958,481 T364A probably benign Het
Scgb2b26 T C 7: 33,943,185 N107S probably benign Het
Seh1l A G 18: 67,787,258 probably benign Het
Thbs2 A T 17: 14,679,914 D592E probably benign Het
Tmem67 G A 4: 12,053,526 A740V probably damaging Het
Tra2a A G 6: 49,249,098 V136A possibly damaging Het
Ttc37 T A 13: 76,129,541 probably null Het
Utp18 T C 11: 93,882,141 D158G probably benign Het
Zfp524 A G 7: 5,017,872 E133G probably damaging Het
Other mutations in Sod1
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0930:Sod1 UTSW 16 90225183 missense probably benign
R2168:Sod1 UTSW 16 90220913 missense possibly damaging 0.85
R4904:Sod1 UTSW 16 90222844 missense probably damaging 1.00
R7538:Sod1 UTSW 16 90226226 nonsense probably null
R8774:Sod1 UTSW 16 90226151 missense probably damaging 1.00
R8774-TAIL:Sod1 UTSW 16 90226151 missense probably damaging 1.00
Posted On 2014-05-07