Incidental Mutation 'R6937:Ndufaf5'
ID 540330
Institutional Source Beutler Lab
Gene Symbol Ndufaf5
Ensembl Gene ENSMUSG00000027384
Gene Name NADH:ubiquinone oxidoreductase complex assembly factor 5
Synonyms 2310003L22Rik
MMRRC Submission 045051-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.308) question?
Stock # R6937 (G1)
Quality Score 225.009
Status Validated
Chromosome 2
Chromosomal Location 140012569-140045609 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 140023522 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 119 (D119G)
Ref Sequence ENSEMBL: ENSMUSP00000035325 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000044825]
AlphaFold A2APY7
Predicted Effect probably damaging
Transcript: ENSMUST00000044825
AA Change: D119G

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000035325
Gene: ENSMUSG00000027384
AA Change: D119G

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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.1%
  • 20x: 97.1%
Validation Efficiency 98% (42/43)
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: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ankrd52 T C 10: 128,222,889 (GRCm39) V613A probably benign Het
Cdh23 A T 10: 60,322,893 (GRCm39) L337Q probably damaging Het
Chrna6 A G 8: 27,897,055 (GRCm39) L274P probably damaging Het
Ciita G A 16: 10,330,355 (GRCm39) probably null Het
Csnka2ip A T 16: 64,299,058 (GRCm39) probably benign Het
Ddx60 G A 8: 62,490,103 (GRCm39) D1691N probably damaging Het
Dnah7b T C 1: 46,234,280 (GRCm39) I1441T probably damaging Het
Dock4 T C 12: 40,884,634 (GRCm39) S1713P probably benign Het
Ep400 T C 5: 110,859,018 (GRCm39) probably benign Het
Epn1 T C 7: 5,092,943 (GRCm39) I85T probably damaging Het
Eri2 T C 7: 119,386,012 (GRCm39) K228E probably damaging Het
Garem1 C T 18: 21,280,827 (GRCm39) A510T probably benign Het
Gfm2 T A 13: 97,299,572 (GRCm39) probably null Het
Hnrnpd T C 5: 100,111,629 (GRCm39) T321A probably benign Het
Htr2a A T 14: 74,882,604 (GRCm39) I197F probably damaging Het
Krtap2-4 T A 11: 99,505,299 (GRCm39) probably benign Het
Lcn3 C A 2: 25,657,823 (GRCm39) Y179* probably null Het
Mak A T 13: 41,201,578 (GRCm39) M261K probably damaging Het
Marchf7 A G 2: 60,071,310 (GRCm39) T605A probably damaging Het
Mcm4 A C 16: 15,454,199 (GRCm39) F83V probably benign Het
Myo18b T C 5: 112,950,258 (GRCm39) N1546S probably benign Het
Nckap1 T A 2: 80,339,060 (GRCm39) K989N probably damaging Het
Or7g28 A T 9: 19,271,985 (GRCm39) V222D probably damaging Het
Pcdh1 T C 18: 38,336,528 (GRCm39) T36A possibly damaging Het
Pitpna C T 11: 75,494,557 (GRCm39) T100I possibly damaging Het
Pmf1 A T 3: 88,306,496 (GRCm39) L102Q probably damaging Het
Rftn2 T C 1: 55,233,508 (GRCm39) probably null Het
Robo3 A G 9: 37,341,176 (GRCm39) L10P probably benign Het
Serpinb6a T C 13: 34,102,801 (GRCm39) I241V possibly damaging Het
St14 A T 9: 31,040,956 (GRCm39) probably null Het
Stat6 T C 10: 127,494,571 (GRCm39) probably null Het
Tdpoz6 T C 3: 93,599,523 (GRCm39) N282S probably benign Het
Tdpoz8 A G 3: 92,981,417 (GRCm39) H145R probably benign Het
Tenm4 G A 7: 96,202,703 (GRCm39) R106H probably benign Het
Tgfbrap1 A T 1: 43,091,064 (GRCm39) V687E probably damaging Het
Trim30d A T 7: 104,132,634 (GRCm39) S68T probably damaging Het
Ttn A G 2: 76,663,253 (GRCm39) probably benign Het
Ugt3a1 A T 15: 9,292,158 (GRCm39) D97V probably benign Het
Ugt8a G A 3: 125,709,250 (GRCm39) probably benign Het
Vmn1r184 A T 7: 25,966,750 (GRCm39) K165N probably benign Het
Vmn2r86 T A 10: 130,284,523 (GRCm39) I523F probably damaging Het
Wapl G A 14: 34,444,311 (GRCm39) V588I probably benign Het
Wdr7 C T 18: 63,924,938 (GRCm39) P974S probably benign Het
Zfp975 T C 7: 42,314,480 (GRCm39) D31G possibly 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
R3794:Ndufaf5 UTSW 2 140,044,843 (GRCm39) missense possibly damaging 0.89
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
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'- GCCTGTTTGAAGTCTGTAACAGG -3'
(R):5'- AATGTCACCAAGAGCTGTCTC -3'

Sequencing Primer
(F):5'- GCATGTGTTTAAATCTGTGCTATTCC -3'
(R):5'- CTCTAGGTAGTGAGATTAGCAGTGTC -3'
Posted On 2018-11-06