Incidental Mutation 'IGL02958:Ndufs8'
ID 365234
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 # IGL02958
Quality Score
Status
Chromosome 19
Chromosomal Location 3958863-3962774 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 3961232 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 45 (E45G)
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: E45G

PolyPhen 2 Score 0.095 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000074600
Gene: ENSMUSG00000059734
AA Change: E45G

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: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aars2 G T 17: 45,829,098 (GRCm39) V755L probably benign Het
Abhd15 T C 11: 77,406,791 (GRCm39) V256A possibly damaging Het
Agtr1b A T 3: 20,370,258 (GRCm39) V116E possibly damaging Het
Ahi1 A T 10: 20,839,698 (GRCm39) D203V probably damaging Het
Aplp2 G T 9: 31,075,972 (GRCm39) probably benign Het
Arid4a T C 12: 71,144,337 (GRCm39) S1249P probably benign Het
Asz1 T A 6: 18,073,813 (GRCm39) K298M possibly damaging Het
C4bp A G 1: 130,564,532 (GRCm39) I384T probably damaging Het
Cacna1e C A 1: 154,341,487 (GRCm39) A1236S probably damaging Het
Cdh13 T C 8: 120,039,460 (GRCm39) I634T possibly damaging Het
Cemip A T 7: 83,624,263 (GRCm39) F524L probably damaging Het
Dnah7c G A 1: 46,696,271 (GRCm39) R2051H probably damaging Het
Dnajc17 T C 2: 119,016,243 (GRCm39) K77E probably benign Het
Efhc2 C T X: 17,027,485 (GRCm39) probably benign Het
Ergic2 A T 6: 148,083,441 (GRCm39) *50K probably null Het
Fam83g C T 11: 61,598,548 (GRCm39) P812S probably damaging Het
Flg2 C T 3: 93,110,920 (GRCm39) R983W unknown Het
Itih3 T C 14: 30,635,139 (GRCm39) T73A probably benign Het
Kcnj1 A G 9: 32,307,851 (GRCm39) S72G probably damaging Het
Kcnn4 T C 7: 24,074,170 (GRCm39) V78A probably benign Het
Lrp1b T A 2: 41,192,928 (GRCm39) D1353V probably damaging Het
Lrrc2 T A 9: 110,791,741 (GRCm39) probably null Het
Mplkipl1 G T 19: 61,164,118 (GRCm39) Q106K possibly damaging Het
Nell1 G A 7: 49,870,085 (GRCm39) probably null Het
Nxt1 A G 2: 148,517,692 (GRCm39) probably benign Het
Or2y17 A G 11: 49,232,127 (GRCm39) Y256C probably benign Het
Or5al5 T A 2: 85,961,351 (GRCm39) I219F probably benign Het
Pdzd8 A T 19: 59,288,804 (GRCm39) C865* probably null Het
Pop1 G T 15: 34,530,509 (GRCm39) C969F probably damaging Het
Rc3h2 A C 2: 37,304,712 (GRCm39) I16S probably damaging Het
Shank1 T C 7: 44,003,897 (GRCm39) V1863A possibly damaging Het
Slc15a4 A T 5: 127,681,729 (GRCm39) L296Q possibly damaging Het
Spmip1 G A 6: 29,471,625 (GRCm39) G34R probably damaging Het
Ssr4 T C X: 72,830,856 (GRCm39) probably benign Het
Supt20 T A 3: 54,621,144 (GRCm39) probably benign Het
Ttc8 A T 12: 98,930,803 (GRCm39) K282N probably benign Het
Usp40 A T 1: 87,906,207 (GRCm39) V676E probably damaging Het
Vmn1r43 T C 6: 89,847,031 (GRCm39) I152V probably benign Het
Vmn2r61 A T 7: 41,949,361 (GRCm39) I594F probably benign Het
Vps53 A C 11: 76,008,537 (GRCm39) I261S probably damaging Het
Wdr19 T A 5: 65,370,150 (GRCm39) probably null Het
Zc3hav1 T A 6: 38,309,919 (GRCm39) D301V probably damaging Het
Other mutations in Ndufs8
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00588:Ndufs8 APN 19 3,961,740 (GRCm39) missense probably benign
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 2015-12-18