Incidental Mutation 'IGL00588:Ndufs8'
ID 5698
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ndufs8
Ensembl Gene ENSMUSG00000059734
Gene Name NADH:ubiquinone oxidoreductase core subunit S8
Synonyms
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL00588
Quality Score
Status
Chromosome 19
Chromosomal Location 3958863-3962774 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 3961740 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Cysteine at position 3 (R3C)
Ref Sequence ENSEMBL: ENSMUSP00000074600 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000001801] [ENSMUST00000051803] [ENSMUST00000075092] [ENSMUST00000126070] [ENSMUST00000135070]
AlphaFold Q8K3J1
Predicted Effect probably benign
Transcript: ENSMUST00000001801
SMART Domains Protein: ENSMUSP00000001801
Gene: ENSMUSG00000001750

DomainStartEndE-ValueType
Pfam:V_ATPase_I 26 830 4.4e-287 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000051803
SMART Domains Protein: ENSMUSP00000056276
Gene: ENSMUSG00000024885

DomainStartEndE-ValueType
Pfam:Aldedh 2 428 7.4e-88 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000075092
AA Change: R3C

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000074600
Gene: ENSMUSG00000059734
AA Change: R3C

DomainStartEndE-ValueType
Pfam:Fer4_10 108 163 2.4e-9 PFAM
Pfam:Fer4 109 129 1.1e-6 PFAM
Pfam:Fer4_4 110 126 2e-5 PFAM
Pfam:Fer4_7 112 166 1e-13 PFAM
Pfam:Fer4_9 112 167 8.8e-10 PFAM
Pfam:Fer4 145 168 5.3e-10 PFAM
Pfam:Fer4_4 149 173 3.1e-3 PFAM
low complexity region 181 193 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000125792
Predicted Effect probably benign
Transcript: ENSMUST00000126070
SMART Domains Protein: ENSMUSP00000120531
Gene: ENSMUSG00000001750

DomainStartEndE-ValueType
Pfam:V_ATPase_I 27 829 1.2e-277 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000135070
SMART Domains Protein: ENSMUSP00000121241
Gene: ENSMUSG00000001750

DomainStartEndE-ValueType
low complexity region 59 70 N/A INTRINSIC
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 encodes a subunit of mitochondrial NADH:ubiquinone oxidoreductase, or Complex I, a multimeric enzyme of the respiratory chain responsible for NADH oxidation, ubiquinone reduction, and the ejection of protons from mitochondria. The encoded protein is involved in the binding of two of the six to eight iron-sulfur clusters of Complex I and, as such, is required in the electron transfer process. Mutations in this gene have been associated with Leigh syndrome. [provided by RefSeq, Mar 2010]
Allele List at MGI
Other mutations in this stock
Total: 26 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Arrdc5 G A 17: 56,601,262 (GRCm39) P288S probably damaging Het
Atosa A G 9: 74,916,863 (GRCm39) I487M probably damaging Het
Cd1d1 T C 3: 86,905,480 (GRCm39) D171G probably damaging Het
Cd96 T C 16: 45,858,917 (GRCm39) N530S probably benign Het
Csn1s1 A G 5: 87,815,118 (GRCm39) I5V probably benign Het
Fam120b T A 17: 15,622,857 (GRCm39) Y278* probably null Het
Fam186a T C 15: 99,825,572 (GRCm39) probably benign Het
Fhip1a G A 3: 85,579,925 (GRCm39) T760M probably benign Het
Gimap6 T C 6: 48,679,355 (GRCm39) K227R possibly damaging Het
Gli3 A T 13: 15,818,977 (GRCm39) T260S possibly damaging Het
Gm12888 A T 4: 121,176,642 (GRCm39) M53K possibly damaging Het
Klhl9 C T 4: 88,639,056 (GRCm39) S395N probably damaging Het
Lpp T C 16: 24,663,938 (GRCm39) M280T probably damaging Het
Ly96 A G 1: 16,776,452 (GRCm39) probably null Het
Mamdc2 T A 19: 23,330,680 (GRCm39) T376S possibly damaging Het
Man2b1 C A 8: 85,811,267 (GRCm39) probably null Het
Prox1 T C 1: 189,855,607 (GRCm39) probably benign Het
Prrx1 T C 1: 163,089,536 (GRCm39) N97S probably damaging Het
Rfx3 G A 19: 27,803,476 (GRCm39) Q270* probably null Het
Serpinb1c T C 13: 33,067,958 (GRCm39) K213E probably damaging Het
Slc1a2 A G 2: 102,586,346 (GRCm39) I317V probably benign Het
Smim15 T C 13: 108,184,063 (GRCm39) L23P probably damaging Het
Tcea3 A T 4: 136,001,003 (GRCm39) N338Y probably damaging Het
Ttn A T 2: 76,658,071 (GRCm39) probably benign Het
Zfp61 T A 7: 23,990,520 (GRCm39) I544F probably benign Het
Zfp954 C T 7: 7,118,366 (GRCm39) A393T probably benign Het
Other mutations in Ndufs8
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02958:Ndufs8 APN 19 3,961,232 (GRCm39) missense probably benign 0.09
R4279:Ndufs8 UTSW 19 3,961,014 (GRCm39) missense probably damaging 1.00
R6072:Ndufs8 UTSW 19 3,959,275 (GRCm39) missense probably damaging 0.96
R7261:Ndufs8 UTSW 19 3,961,606 (GRCm39) missense probably benign
R8063:Ndufs8 UTSW 19 3,961,019 (GRCm39) missense probably damaging 1.00
Posted On 2012-04-20