Incidental Mutation 'R7586:Ndufaf4'
ID 587126
Institutional Source Beutler Lab
Gene Symbol Ndufaf4
Ensembl Gene ENSMUSG00000028261
Gene Name NADH:ubiquinone oxidoreductase complex assembly factor 4
Synonyms 3000003G13Rik, 1110007M04Rik
MMRRC Submission 045668-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.135) question?
Stock # R7586 (G1)
Quality Score 225.009
Status Validated
Chromosome 4
Chromosomal Location 24898083-24905001 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 24901829 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Phenylalanine at position 126 (L126F)
Ref Sequence ENSEMBL: ENSMUSP00000029925 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029925] [ENSMUST00000151249]
AlphaFold Q9D1H6
Predicted Effect probably damaging
Transcript: ENSMUST00000029925
AA Change: L126F

PolyPhen 2 Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000029925
Gene: ENSMUSG00000028261
AA Change: L126F

DomainStartEndE-ValueType
Pfam:UPF0240 1 169 6.4e-67 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000151249
SMART Domains Protein: ENSMUSP00000117141
Gene: ENSMUSG00000028261

DomainStartEndE-ValueType
Pfam:UPF0240 1 116 2.4e-38 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 98.9%
Validation Efficiency 100% (67/67)
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: 65 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ankdd1a C T 9: 65,409,466 (GRCm39) probably null Het
Ankrd31 A G 13: 96,968,562 (GRCm39) E733G possibly damaging Het
Cars2 C T 8: 11,580,321 (GRCm39) W239* probably null Het
Catsperz A T 19: 6,899,929 (GRCm39) L192* probably null Het
Ccdc168 G A 1: 44,099,173 (GRCm39) R642W probably benign Het
Cdh3 T C 8: 107,237,975 (GRCm39) probably null Het
Cfh C T 1: 140,075,459 (GRCm39) V260M probably damaging Het
Clcn4 T A 7: 7,296,958 (GRCm39) S227C probably benign Het
Cntn3 A T 6: 102,397,388 (GRCm39) W62R probably damaging Het
Col27a1 C A 4: 63,143,278 (GRCm39) A322D probably damaging Het
Egflam C T 15: 7,238,082 (GRCm39) G934S probably damaging Het
Eloa A G 4: 135,734,510 (GRCm39) V665A probably damaging Het
Epg5 A G 18: 78,073,275 (GRCm39) T2433A probably benign Het
Ercc5 A G 1: 44,215,011 (GRCm39) N848S possibly damaging Het
Fbrsl1 A C 5: 110,526,020 (GRCm39) F61V probably damaging Het
Fry T C 5: 150,349,683 (GRCm39) Y1595H probably damaging Het
Fstl4 A G 11: 52,963,256 (GRCm39) N213D probably benign Het
Gab2 C T 7: 96,950,645 (GRCm39) P446L probably damaging Het
Ganab A T 19: 8,888,716 (GRCm39) Y552F possibly damaging Het
Gfy C T 7: 44,826,962 (GRCm39) R378Q probably damaging Het
Gm3285 T C 10: 77,697,875 (GRCm39) V8A unknown Het
Grip1 A T 10: 119,913,043 (GRCm39) probably null Het
Gtf3c3 A G 1: 54,442,752 (GRCm39) L764P probably damaging Het
Igfbp2 A T 1: 72,888,307 (GRCm39) M150L probably benign Het
Jakmip2 C T 18: 43,673,676 (GRCm39) R796Q probably damaging Het
Jpt1 T A 11: 115,389,021 (GRCm39) R141W probably damaging Het
Junb T C 8: 85,704,802 (GRCm39) E86G probably damaging Het
Klhl41 A T 2: 69,505,068 (GRCm39) D457V probably benign Het
Lama2 T C 10: 26,977,389 (GRCm39) Y1930C probably benign Het
Med13 A T 11: 86,161,828 (GRCm39) I2167N probably damaging Het
Msh3 A G 13: 92,485,840 (GRCm39) probably benign Het
Myo1b A C 1: 51,817,483 (GRCm39) I593S probably damaging Het
Myo1c A T 11: 75,548,345 (GRCm39) T16S possibly damaging Het
Nlrp9a A T 7: 26,256,721 (GRCm39) N113I possibly damaging Het
Or5d43 T A 2: 88,104,794 (GRCm39) I200F probably damaging Het
Or5g23 G C 2: 85,438,528 (GRCm39) S242C probably damaging Het
Or5p6 T A 7: 107,631,128 (GRCm39) T141S probably benign Het
Pabpc6 A T 17: 9,887,611 (GRCm39) D313E probably damaging Het
Pcdhb2 G T 18: 37,428,857 (GRCm39) G277* probably null Het
Phkb T G 8: 86,756,226 (GRCm39) V840G probably damaging Het
Pip4k2c A G 10: 127,034,955 (GRCm39) F415S probably damaging Het
Ptprb A G 10: 116,179,779 (GRCm39) E1112G probably damaging Het
Pum2 A G 12: 8,797,206 (GRCm39) D847G probably damaging Het
Qrich2 C T 11: 116,346,450 (GRCm39) R1458H probably benign Het
Rdh11 T C 12: 79,231,957 (GRCm39) Y199C probably damaging Het
Resf1 A T 6: 149,228,291 (GRCm39) N446Y possibly damaging Het
Scamp3 A G 3: 89,087,673 (GRCm39) Y171C probably damaging Het
Serpinb9b T C 13: 33,223,743 (GRCm39) S312P probably damaging Het
Slain2 G A 5: 73,123,165 (GRCm39) S461N probably benign Het
Slc23a1 G A 18: 35,758,891 (GRCm39) T100I probably damaging Het
Spata31d1b T A 13: 59,866,194 (GRCm39) I1114N probably damaging Het
Spinkl A G 18: 44,307,656 (GRCm39) S2P probably damaging Het
Srrt T C 5: 137,300,457 (GRCm39) N173S probably damaging Het
Stk24 C T 14: 121,539,699 (GRCm39) A166T probably damaging Het
Supt16 A T 14: 52,411,013 (GRCm39) V697E probably damaging Het
Taf6l C T 19: 8,761,210 (GRCm39) E53K probably damaging Het
Tmem81 A T 1: 132,435,511 (GRCm39) I106F probably damaging Het
Tnxb C A 17: 34,935,382 (GRCm39) L2561I probably damaging Het
Top3b G A 16: 16,709,232 (GRCm39) R640H probably benign Het
Trpm7 A T 2: 126,652,085 (GRCm39) S1463T probably benign Het
Ttll3 CAAAGTAA CAAAGTAAAGTAA 6: 113,376,118 (GRCm39) probably null Het
Tubal3 A C 13: 3,978,198 (GRCm39) D38A possibly damaging Het
Vps13a T A 19: 16,624,962 (GRCm39) I2766F probably benign Het
Wwc1 A T 11: 35,735,022 (GRCm39) V951E possibly damaging Het
Zfp777 A T 6: 48,006,152 (GRCm39) M414K 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
R5666:Ndufaf4 UTSW 4 24,898,636 (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
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'- GCTTTCTAGCGAGCTATAGTTAGG -3'
(R):5'- GCTTGGGAACACATACAGGG -3'

Sequencing Primer
(F):5'- GTGGTACAGTGCAAAATCAAAGTTTG -3'
(R):5'- CACATACAGGGGAAGTTGTTTC -3'
Posted On 2019-10-24