Incidental Mutation 'R5666:Ndufaf4'
ID 444407
Institutional Source Beutler Lab
Gene Symbol Ndufaf4
Ensembl Gene ENSMUSG00000028261
Gene Name NADH:ubiquinone oxidoreductase complex assembly factor 4
Synonyms 3000003G13Rik, 1110007M04Rik
MMRRC Submission 043309-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.135) question?
Stock # R5666 (G1)
Quality Score 225
Status Not validated
Chromosome 4
Chromosomal Location 24898083-24905001 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 24898636 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Valine at position 64 (D64V)
Ref Sequence ENSEMBL: ENSMUSP00000117141 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029925] [ENSMUST00000151249]
AlphaFold Q9D1H6
Predicted Effect probably benign
Transcript: ENSMUST00000029925
AA Change: D67V

PolyPhen 2 Score 0.434 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000029925
Gene: ENSMUSG00000028261
AA Change: D67V

DomainStartEndE-ValueType
Pfam:UPF0240 1 169 6.4e-67 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000146721
Predicted Effect probably damaging
Transcript: ENSMUST00000151249
AA Change: D64V

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000117141
Gene: ENSMUSG00000028261
AA Change: D64V

DomainStartEndE-ValueType
Pfam:UPF0240 1 116 2.4e-38 PFAM
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 98.8%
  • 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.] NADH:ubiquinone oxidoreductase (complex I) catalyzes the transfer of electrons from NADH to ubiquinone (coenzyme Q) in the first step of the mitochondrial respiratory chain, resulting in the translocation of protons across the inner mitochondrial membrane. This gene encodes a complex I assembly factor. Mutations in this gene are a cause of mitochondrial complex I deficiency. [provided by RefSeq, Oct 2009]
Allele List at MGI
Other mutations in this stock
Total: 60 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930524J08Rik T C 5: 100,127,068 (GRCm39) probably benign Het
Abce1 C A 8: 80,416,906 (GRCm39) E368D probably benign Het
Becn2 C T 1: 175,749,179 (GRCm39) T415M probably damaging Het
Bmper T A 9: 23,384,759 (GRCm39) M588K probably damaging Het
Bop1 T C 15: 76,338,433 (GRCm39) E503G probably benign Het
Btla A T 16: 45,070,782 (GRCm39) D247V probably damaging Het
Cap2 T A 13: 46,684,559 (GRCm39) probably null Het
Chd2 A T 7: 73,091,465 (GRCm39) I1592K probably benign Het
Chd3 T C 11: 69,244,177 (GRCm39) E1202G possibly damaging Het
Cmya5 T C 13: 93,182,457 (GRCm39) I3568V possibly damaging Het
Col4a4 A G 1: 82,463,300 (GRCm39) probably null Het
Cpxm2 C T 7: 131,656,625 (GRCm39) E546K probably benign Het
Cyp2j5 C T 4: 96,546,930 (GRCm39) V195I probably benign Het
Ddb2 C T 2: 91,042,926 (GRCm39) V353M probably damaging Het
Dscam G A 16: 96,519,364 (GRCm39) T791I probably benign Het
Dtd2 T A 12: 52,046,643 (GRCm39) L65F probably damaging Het
E2f1 T A 2: 154,411,101 (GRCm39) probably benign Het
Ephb3 A G 16: 21,041,241 (GRCm39) N732S probably benign Het
Fkbp10 G T 11: 100,314,352 (GRCm39) W384L probably damaging Het
Foxm1 C T 6: 128,350,130 (GRCm39) S339L possibly damaging Het
Fzd6 A T 15: 38,894,510 (GRCm39) R225S probably benign Het
Gfpt1 A T 6: 87,030,795 (GRCm39) I60F possibly damaging Het
Glce A G 9: 61,967,793 (GRCm39) S453P probably damaging Het
Gm4787 G A 12: 81,424,805 (GRCm39) T451I probably benign Het
Hs2st1 A T 3: 144,275,554 (GRCm39) V22E probably damaging Het
Hspa9 T C 18: 35,087,300 (GRCm39) I2V probably null Het
Ikzf2 A G 1: 69,617,059 (GRCm39) V96A probably benign Het
Ilkap T C 1: 91,318,863 (GRCm39) T38A probably benign Het
Lpin3 A G 2: 160,739,250 (GRCm39) T353A probably benign Het
Myh1 T A 11: 67,112,178 (GRCm39) I1744N probably benign Het
Nadsyn1 C T 7: 143,361,168 (GRCm39) G335S probably damaging Het
Ndc1 T C 4: 107,246,723 (GRCm39) V382A possibly damaging Het
Nfe2l2 T C 2: 75,507,462 (GRCm39) T213A probably benign Het
Nkain4 A G 2: 180,584,995 (GRCm39) L73P probably damaging Het
Nmt1 C T 11: 102,949,041 (GRCm39) R299* probably null Het
Or1j20 T A 2: 36,760,401 (GRCm39) D274E probably benign Het
Or2y8 A C 11: 52,035,525 (GRCm39) Y277* probably null Het
Or4b12 T C 2: 90,096,308 (GRCm39) I155M probably benign Het
Or5k1 G A 16: 58,617,424 (GRCm39) P262S possibly damaging Het
Padi2 G T 4: 140,676,542 (GRCm39) R560L possibly damaging Het
Palmd T C 3: 116,717,750 (GRCm39) N249S possibly damaging Het
Pde1c A C 6: 56,103,842 (GRCm39) probably null Het
Pdgfra T C 5: 75,334,156 (GRCm39) S410P probably benign Het
Phldb1 T C 9: 44,627,078 (GRCm39) M456V probably damaging Het
Pla2g2d T A 4: 138,507,591 (GRCm39) C82S probably damaging Het
Rgs21 A G 1: 144,412,680 (GRCm39) V48A probably benign Het
Rnd2 C T 11: 101,359,825 (GRCm39) L57F probably damaging Het
Slc4a2 G T 5: 24,639,836 (GRCm39) V506L probably damaging Het
Slc7a4 A G 16: 17,393,815 (GRCm39) probably benign Het
Sptbn5 C G 2: 119,916,048 (GRCm39) probably benign Het
Sstr2 T A 11: 113,515,539 (GRCm39) W153R probably damaging Het
Steap2 C T 5: 5,723,681 (GRCm39) V400I probably benign Het
Syne2 G A 12: 75,997,733 (GRCm39) G2236D probably benign Het
Tas2r130 T C 6: 131,607,342 (GRCm39) N151S possibly damaging Het
Tex52 T C 6: 128,352,518 (GRCm39) S13P probably benign Het
Tmprss13 A G 9: 45,256,253 (GRCm39) I456V probably damaging Het
Trim24 T C 6: 37,942,536 (GRCm39) F946S probably benign Het
Vmn2r10 A T 5: 109,146,910 (GRCm39) Y459* probably null Het
Vwa1 A G 4: 155,858,922 (GRCm39) L13P probably damaging Het
Zfp648 C A 1: 154,079,963 (GRCm39) Q41K probably benign Het
Other mutations in Ndufaf4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL03001:Ndufaf4 APN 4 24,901,747 (GRCm39) missense probably benign 0.44
R2128:Ndufaf4 UTSW 4 24,898,608 (GRCm39) missense probably damaging 1.00
R2129:Ndufaf4 UTSW 4 24,898,608 (GRCm39) missense probably damaging 1.00
R5670:Ndufaf4 UTSW 4 24,898,636 (GRCm39) missense probably damaging 1.00
R6021:Ndufaf4 UTSW 4 24,901,760 (GRCm39) missense probably benign 0.02
R7393:Ndufaf4 UTSW 4 24,903,177 (GRCm39) missense probably benign 0.00
R7519:Ndufaf4 UTSW 4 24,901,847 (GRCm39) missense probably damaging 0.99
R7586:Ndufaf4 UTSW 4 24,901,829 (GRCm39) missense probably damaging 0.98
R7997:Ndufaf4 UTSW 4 24,901,919 (GRCm39) missense probably benign 0.01
R8201:Ndufaf4 UTSW 4 24,898,197 (GRCm39) missense possibly damaging 0.94
R8245:Ndufaf4 UTSW 4 24,898,648 (GRCm39) missense probably benign 0.18
R9733:Ndufaf4 UTSW 4 24,903,177 (GRCm39) missense probably benign 0.00
Predicted Primers PCR Primer
(F):5'- TGCCCCAAGATGTCCAGATG -3'
(R):5'- GTATACCCTAAGTATCGAAGGGG -3'

Sequencing Primer
(F):5'- GGCTTATTTTCTTTCCTTAGAGT -3'
(R):5'- CCTAAGTATCGAAGGGGGTCCAG -3'
Posted On 2016-11-09