Incidental Mutation 'R3794:Ndufaf5'
ID 272679
Institutional Source Beutler Lab
Gene Symbol Ndufaf5
Ensembl Gene ENSMUSG00000027384
Gene Name NADH:ubiquinone oxidoreductase complex assembly factor 5
Synonyms 2310003L22Rik
MMRRC Submission 040756-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.308) question?
Stock # R3794 (G1)
Quality Score 225
Status Validated
Chromosome 2
Chromosomal Location 140012569-140045609 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 140044843 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Lysine at position 279 (M279K)
Ref Sequence ENSEMBL: ENSMUSP00000035325 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000044825]
AlphaFold A2APY7
Predicted Effect possibly damaging
Transcript: ENSMUST00000044825
AA Change: M279K

PolyPhen 2 Score 0.894 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000035325
Gene: ENSMUSG00000027384
AA Change: M279K

DomainStartEndE-ValueType
signal peptide 1 21 N/A INTRINSIC
Pfam:Methyltransf_29 45 196 7.1e-8 PFAM
Pfam:Methyltransf_23 53 239 6.4e-16 PFAM
Pfam:Ubie_methyltran 78 204 3e-10 PFAM
Pfam:Methyltransf_18 89 187 1.1e-8 PFAM
Pfam:Methyltransf_31 92 243 9.6e-13 PFAM
Pfam:Methyltransf_25 93 182 1.3e-9 PFAM
Pfam:Methyltransf_12 94 184 2.4e-14 PFAM
Pfam:Methyltransf_11 94 186 6.3e-21 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000125913
Meta Mutation Damage Score 0.5665 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.7%
  • 10x: 97.4%
  • 20x: 95.4%
Validation Efficiency 97% (37/38)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The NADH-ubiquinone oxidoreductase complex (complex I) of the mitochondrial respiratory chain catalyzes the transfer of electrons from NADH to ubiquinone, and consists of at least 43 subunits. The complex is located in the inner mitochondrial membrane. This gene encodes a mitochondrial protein that is associated with the matrix face of the mitochondrial inner membrane and is required for complex I assembly. A mutation in this gene results in mitochondrial complex I deficiency. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2009]
Allele List at MGI
Other mutations in this stock
Total: 34 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adcy6 C T 15: 98,496,824 (GRCm39) V482I probably damaging Het
Adgrv1 T A 13: 81,431,486 (GRCm39) M1L probably damaging Het
Ceacam13 A G 7: 17,747,340 (GRCm39) *264W probably null Het
Dennd5b A T 6: 149,002,715 (GRCm39) D31E possibly damaging Het
Dip2c T C 13: 9,654,597 (GRCm39) V706A probably damaging Het
Enpp3 T C 10: 24,707,630 (GRCm39) probably null Het
Exoc4 T G 6: 33,452,932 (GRCm39) V474G probably benign Het
F2rl1 A G 13: 95,649,719 (GRCm39) Y388H unknown Het
Fasl T C 1: 161,609,306 (GRCm39) R17G probably benign Het
Htr1a G A 13: 105,580,852 (GRCm39) V31M possibly damaging Het
Inpp4b T C 8: 82,759,845 (GRCm39) V445A probably damaging Het
Itih3 T C 14: 30,640,351 (GRCm39) Y319C probably damaging Het
Katnip A G 7: 125,419,261 (GRCm39) N476S probably benign Het
Kmt2d T C 15: 98,735,240 (GRCm39) probably benign Het
Mobp A T 9: 119,997,033 (GRCm39) K55* probably null Het
Nlrc3 T C 16: 3,765,739 (GRCm39) I1057V probably benign Het
Or10al7 A G 17: 38,365,786 (GRCm39) Y224H probably damaging Het
Or4c112 G T 2: 88,853,770 (GRCm39) H192Q probably benign Het
Piezo2 C T 18: 63,214,864 (GRCm39) R1257Q probably damaging Het
Pigv A G 4: 133,392,502 (GRCm39) S223P possibly damaging Het
Pkdcc A G 17: 83,531,382 (GRCm39) T464A probably damaging Het
Polr2k A G 15: 36,175,193 (GRCm39) I18V probably damaging Het
Pon3 A G 6: 5,221,578 (GRCm39) Y351H probably benign Het
Rsf1 ATGGCG ATGGCGACGGTGGCG 7: 97,229,111 (GRCm39) probably benign Het
Scaf8 A G 17: 3,240,524 (GRCm39) E632G probably damaging Het
Smurf1 A G 5: 144,837,985 (GRCm39) probably null Het
Tex16 T G X: 111,150,375 (GRCm39) M1R probably null Het
Tln1 G T 4: 43,536,295 (GRCm39) A1999D probably damaging Het
Trgv5 A T 13: 19,376,694 (GRCm39) H47L probably benign Het
Ttn C T 2: 76,772,781 (GRCm39) V2405I possibly damaging Het
Vps13d G A 4: 144,812,007 (GRCm39) probably benign Het
Xrcc1 A G 7: 24,269,985 (GRCm39) T469A probably benign Het
Zfp287 G T 11: 62,605,070 (GRCm39) H612Q probably damaging Het
Zfp352 C T 4: 90,113,386 (GRCm39) H509Y probably damaging Het
Other mutations in Ndufaf5
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02192:Ndufaf5 APN 2 140,030,663 (GRCm39) missense probably benign 0.01
R0373:Ndufaf5 UTSW 2 140,012,801 (GRCm39) missense probably benign 0.03
R1654:Ndufaf5 UTSW 2 140,019,220 (GRCm39) splice site probably null
R1710:Ndufaf5 UTSW 2 140,035,522 (GRCm39) missense possibly damaging 0.92
R1868:Ndufaf5 UTSW 2 140,023,509 (GRCm39) missense probably benign 0.00
R2226:Ndufaf5 UTSW 2 140,030,780 (GRCm39) missense probably benign 0.02
R4440:Ndufaf5 UTSW 2 140,012,645 (GRCm39) missense probably benign 0.00
R4621:Ndufaf5 UTSW 2 140,025,845 (GRCm39) missense probably benign 0.02
R4669:Ndufaf5 UTSW 2 140,029,675 (GRCm39) missense probably benign 0.11
R5683:Ndufaf5 UTSW 2 140,044,843 (GRCm39) missense possibly damaging 0.89
R6904:Ndufaf5 UTSW 2 140,030,700 (GRCm39) nonsense probably null
R6937:Ndufaf5 UTSW 2 140,023,522 (GRCm39) missense probably damaging 1.00
R8302:Ndufaf5 UTSW 2 140,030,698 (GRCm39) missense possibly damaging 0.93
R8539:Ndufaf5 UTSW 2 140,025,894 (GRCm39) missense possibly damaging 0.69
R8855:Ndufaf5 UTSW 2 140,025,840 (GRCm39) missense possibly damaging 0.95
R9328:Ndufaf5 UTSW 2 140,030,752 (GRCm39) missense possibly damaging 0.46
R9333:Ndufaf5 UTSW 2 140,035,513 (GRCm39) missense probably benign 0.29
R9731:Ndufaf5 UTSW 2 140,012,807 (GRCm39) missense possibly damaging 0.81
Predicted Primers PCR Primer
(F):5'- GGATTCAAACAGCTTTGCTCAG -3'
(R):5'- AGCGGCTTGGAAACAGACAC -3'

Sequencing Primer
(F):5'- CAGTAAGCAGCCTAGCTCTAGTTTG -3'
(R):5'- CTTGGAAACAGACACAGATAAGATC -3'
Posted On 2015-03-25