Incidental Mutation 'R6072:Ndufs8'
ID 482558
Institutional Source Beutler Lab
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 # R6072 (G1)
Quality Score 187.009
Status Not validated
Chromosome 19
Chromosomal Location 3958863-3962774 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 3959275 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 129 (T129A)
Ref Sequence ENSEMBL: ENSMUSP00000074600 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000001801] [ENSMUST00000051803] [ENSMUST00000075092] [ENSMUST00000126070] [ENSMUST00000135070] [ENSMUST00000145791]
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 damaging
Transcript: ENSMUST00000075092
AA Change: T129A

PolyPhen 2 Score 0.960 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000074600
Gene: ENSMUSG00000059734
AA Change: T129A

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 noncoding transcript
Transcript: ENSMUST00000127308
Predicted Effect probably benign
Transcript: ENSMUST00000135070
SMART Domains Protein: ENSMUSP00000121241
Gene: ENSMUSG00000001750

DomainStartEndE-ValueType
low complexity region 59 70 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000145791
SMART Domains Protein: ENSMUSP00000122474
Gene: ENSMUSG00000001750

DomainStartEndE-ValueType
Pfam:V_ATPase_I 26 830 4.4e-287 PFAM
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.2%
  • 20x: 94.8%
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: 36 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700093K21Rik A T 11: 23,467,357 (GRCm39) M92K probably benign Het
Abca15 T A 7: 119,987,481 (GRCm39) C1256S probably damaging Het
Asic2 A G 11: 80,784,914 (GRCm39) S291P probably damaging Het
Asph A G 4: 9,643,533 (GRCm39) probably null Het
Ccdc57 T A 11: 120,792,901 (GRCm39) K284N probably damaging Het
Cfap210 A T 2: 69,602,402 (GRCm39) D336E probably benign Het
Dnm3 CAGCCTTCGTTGGGTG C 1: 161,838,637 (GRCm39) probably benign Het
Dop1a G A 9: 86,389,750 (GRCm39) S558N probably benign Het
F830045P16Rik T A 2: 129,314,614 (GRCm39) Q221L probably damaging Het
Gm10146 A G 10: 78,229,332 (GRCm39) noncoding transcript Het
Gys2 T G 6: 142,374,263 (GRCm39) D594A probably damaging Het
Irf9 A G 14: 55,843,284 (GRCm39) E114G probably damaging Het
Itpr2 T G 6: 146,248,609 (GRCm39) K1082T probably damaging Het
Krt14 C T 11: 100,097,992 (GRCm39) G97D unknown Het
Lmo7 A T 14: 102,166,772 (GRCm39) probably benign Het
Nckap5l A T 15: 99,324,535 (GRCm39) L656Q probably damaging Het
Nosip G A 7: 44,726,072 (GRCm39) V187M possibly damaging Het
Or4l1 A T 14: 50,166,606 (GRCm39) Y132N probably damaging Het
Or7g18 G A 9: 18,786,718 (GRCm39) V29I probably benign Het
Phf3 A C 1: 30,869,769 (GRCm39) N426K probably benign Het
Plekha6 G C 1: 133,200,045 (GRCm39) R208P possibly damaging Het
Pphln1-ps1 T C 16: 13,495,353 (GRCm39) S151P probably damaging Het
Ptpru A G 4: 131,503,539 (GRCm39) S1164P probably damaging Het
Rcan1 T C 16: 92,262,815 (GRCm39) D51G probably benign Het
Rem1 A G 2: 152,476,437 (GRCm39) T232A probably benign Het
Slc1a3 T A 15: 8,738,052 (GRCm39) I59F probably damaging Het
Slc23a4 T C 6: 34,925,357 (GRCm39) K491E probably benign Het
Slc6a5 T A 7: 49,561,943 (GRCm39) D158E probably damaging Het
Smarca4 A G 9: 21,611,417 (GRCm39) N1510S probably damaging Het
Taf1d T C 9: 15,222,856 (GRCm39) S241P probably benign Het
Thada T C 17: 84,499,434 (GRCm39) D1921G possibly damaging Het
Tmem147 A T 7: 30,427,445 (GRCm39) M99K possibly damaging Het
Tulp1 T C 17: 28,582,758 (GRCm39) E130G possibly damaging Het
Tyw1 T C 5: 130,296,752 (GRCm39) V123A possibly damaging Het
Wdr75 T C 1: 45,838,211 (GRCm39) V40A probably damaging Het
Zfp683 T C 4: 133,783,057 (GRCm39) Y174H probably benign Het
Other mutations in Ndufs8
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00588:Ndufs8 APN 19 3,961,740 (GRCm39) missense probably benign
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
R7261:Ndufs8 UTSW 19 3,961,606 (GRCm39) missense probably benign
R8063:Ndufs8 UTSW 19 3,961,019 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- CGGTGGAGAACTCGAAGTTG -3'
(R):5'- AATCTTTTCCTTGTGGGACAGGAG -3'

Sequencing Primer
(F):5'- AGAACTCGAAGTTGGGGCCC -3'
(R):5'- GGGTCACCTGGCAGAGACTAATG -3'
Posted On 2017-07-14