Incidental Mutation 'R4155:Ndufs4'
ID 315107
Institutional Source Beutler Lab
Gene Symbol Ndufs4
Ensembl Gene ENSMUSG00000021764
Gene Name NADH dehydrogenase (ubiquinone) Fe-S protein 4
Synonyms C1-18k, 6720411N02Rik
MMRRC Submission 040999-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.552) question?
Stock # R4155 (G1)
Quality Score 225
Status Not validated
Chromosome 13
Chromosomal Location 114287795-114388258 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) A to T at 114307854 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Serine to Arginine at position 129 (S129R)
Ref Sequence ENSEMBL: ENSMUSP00000022286 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022286] [ENSMUST00000225035] [ENSMUST00000232101]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000022286
AA Change: S129R

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000022286
Gene: ENSMUSG00000021764
AA Change: S129R

Pfam:ETC_C1_NDUFA4 76 170 8.3e-43 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000225035
Predicted Effect probably benign
Transcript: ENSMUST00000225707
Predicted Effect probably benign
Transcript: ENSMUST00000232101
Meta Mutation Damage Score 0.0579 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.5%
  • 20x: 95.8%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes an nuclear-encoded accessory subunit of the mitochondrial membrane respiratory chain NADH dehydrogenase (complex I, or NADH:ubiquinone oxidoreductase). Complex I removes electrons from NADH and passes them to the electron acceptor ubiquinone. Mutations in this gene can cause mitochondrial complex I deficiencies such as Leigh syndrome. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2015]
PHENOTYPE: Mice homozygous for a null allele exhibit growth retardation, lethargy, loss of motor skills, blindness and decreased mitochondrial CI complex activity beginning at 5 weeks of age followed by death at week 7. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2410004B18Rik T A 3: 145,938,263 (GRCm38) F69I possibly damaging Het
Akt3 A G 1: 177,096,977 (GRCm38) I184T possibly damaging Het
Armc2 A G 10: 42,011,867 (GRCm38) V40A probably damaging Het
Ash2l A G 8: 25,817,454 (GRCm38) Y485H probably damaging Het
Atr T A 9: 95,888,124 (GRCm38) C1202* probably null Het
Bcl11b A T 12: 107,917,425 (GRCm38) probably null Het
Birc6 C A 17: 74,596,939 (GRCm38) S1242R probably benign Het
Bsx A G 9: 40,876,336 (GRCm38) E102G probably benign Het
Casq2 A T 3: 102,133,102 (GRCm38) probably null Het
Ccpg1 C A 9: 73,012,167 (GRCm38) Q355K probably benign Het
Copa T G 1: 172,101,425 (GRCm38) N251K probably damaging Het
Cst8 C A 2: 148,800,076 (GRCm38) A31E possibly damaging Het
D6Ertd527e C G 6: 87,111,524 (GRCm38) T223S unknown Het
Ecd A G 14: 20,324,564 (GRCm38) S503P probably damaging Het
Fam155a T A 8: 9,233,023 (GRCm38) Y342F possibly damaging Het
Fbn2 C A 18: 58,023,287 (GRCm38) E2487* probably null Het
Hoxd9 A G 2: 74,699,323 (GRCm38) I308V probably benign Het
Ica1l G A 1: 60,013,893 (GRCm38) A162V possibly damaging Het
Kcnj15 A T 16: 95,296,307 (GRCm38) K263* probably null Het
Mettl4 T C 17: 94,740,575 (GRCm38) M213V probably benign Het
Ncan C A 8: 70,110,077 (GRCm38) E510D possibly damaging Het
Olfr1262 A G 2: 90,002,660 (GRCm38) S85G probably benign Het
Olfr305 T A 7: 86,364,062 (GRCm38) I92L probably benign Het
Olfr601 T C 7: 103,359,156 (GRCm38) T13A probably benign Het
Olfr933 A T 9: 38,976,155 (GRCm38) T160S probably damaging Het
P2rx5 A G 11: 73,171,829 (GRCm38) T455A probably damaging Het
Pcdh1 T A 18: 38,203,106 (GRCm38) T159S probably damaging Het
Poln A G 5: 34,009,649 (GRCm38) V755A possibly damaging Het
Pou4f1 C T 14: 104,467,717 (GRCm38) S6N possibly damaging Het
Rpap1 C T 2: 119,774,179 (GRCm38) R416H probably damaging Het
Samd4 T A 14: 47,052,946 (GRCm38) M170K possibly damaging Het
Srgn A G 10: 62,497,834 (GRCm38) F55L possibly damaging Het
Tmcc1 C T 6: 116,133,804 (GRCm38) G176D probably benign Het
Tmem232 A T 17: 65,436,333 (GRCm38) M321K probably damaging Het
Tnfsf11 A G 14: 78,299,869 (GRCm38) M118T probably benign Het
Tns1 T A 1: 73,914,631 (GRCm38) N1848Y probably damaging Het
Ttc27 T G 17: 74,840,460 (GRCm38) I669S probably benign Het
Uaca A G 9: 60,871,753 (GRCm38) S1141G probably benign Het
Usp34 T A 11: 23,417,676 (GRCm38) V1671E probably damaging Het
Wdr64 T A 1: 175,769,606 (GRCm38) L73H probably benign Het
Zfp410 G A 12: 84,327,432 (GRCm38) R181H probably damaging Het
Other mutations in Ndufs4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00568:Ndufs4 APN 13 114,307,870 (GRCm38) missense probably null 0.35
IGL03081:Ndufs4 APN 13 114,307,837 (GRCm38) missense possibly damaging 0.52
R2157:Ndufs4 UTSW 13 114,316,978 (GRCm38) missense probably damaging 0.99
R4156:Ndufs4 UTSW 13 114,307,854 (GRCm38) missense probably benign 0.00
R4157:Ndufs4 UTSW 13 114,307,854 (GRCm38) missense probably benign 0.00
R8021:Ndufs4 UTSW 13 114,307,815 (GRCm38) critical splice donor site probably null
R8515:Ndufs4 UTSW 13 114,288,803 (GRCm38) missense probably damaging 1.00
Predicted Primers PCR Primer

Sequencing Primer
Posted On 2015-05-14