Incidental Mutation 'IGL02249:Ndufaf2'
ID 286303
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ndufaf2
Ensembl Gene ENSMUSG00000068184
Gene Name NADH:ubiquinone oxidoreductase complex assembly factor 2
Synonyms Ndufa12l, mimitin, 1810058I14Rik
Accession Numbers
Essential gene? Not available question?
Stock # IGL02249
Quality Score
Status
Chromosome 13
Chromosomal Location 108189123-108295189 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 108217925 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tryptophan to Arginine at position 74 (W74R)
Ref Sequence ENSEMBL: ENSMUSP00000130532 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000163558] [ENSMUST00000223734] [ENSMUST00000225702]
AlphaFold Q59J78
Predicted Effect probably damaging
Transcript: ENSMUST00000163558
AA Change: W74R

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000130532
Gene: ENSMUSG00000068184
AA Change: W74R

DomainStartEndE-ValueType
low complexity region 2 13 N/A INTRINSIC
Pfam:NDUFA12 20 135 3.4e-16 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000223734
Predicted Effect probably benign
Transcript: ENSMUST00000225702
Predicted Effect unknown
Transcript: ENSMUST00000225830
AA Change: W45R
Coding Region Coverage
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 cause progressive encephalopathy resulting from mitochondrial complex I deficiency. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit impaired complex I mitochondrial activity. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 36 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700019A02Rik T A 1: 53,224,431 (GRCm39) K23* probably null Het
Abca1 A T 4: 53,068,739 (GRCm39) L1333* probably null Het
Adcy6 C A 15: 98,497,795 (GRCm39) M452I probably damaging Het
Adsl G A 15: 80,844,676 (GRCm39) R173H probably benign Het
Ank3 A G 10: 69,718,200 (GRCm39) T484A probably damaging Het
Apol10a A G 15: 77,372,709 (GRCm39) D115G probably damaging Het
Bard1 A G 1: 71,092,828 (GRCm39) S529P probably damaging Het
C2 A G 17: 35,083,484 (GRCm39) probably benign Het
Cftr T A 6: 18,277,870 (GRCm39) I956N possibly damaging Het
Cwc15 A G 9: 14,414,977 (GRCm39) T110A probably benign Het
Dsg4 A T 18: 20,594,361 (GRCm39) I497F possibly damaging Het
Gadd45b A G 10: 80,766,967 (GRCm39) D69G possibly damaging Het
Glb1l3 A T 9: 26,742,564 (GRCm39) S307R possibly damaging Het
Greb1l G A 18: 10,532,961 (GRCm39) G843R probably damaging Het
H2-M11 A T 17: 36,858,829 (GRCm39) Y123F probably benign Het
Hal G A 10: 93,333,400 (GRCm39) A323T probably damaging Het
Il4ra T C 7: 125,166,396 (GRCm39) F47L probably benign Het
Klra10 T A 6: 130,256,367 (GRCm39) N96Y probably benign Het
Maco1 T C 4: 134,555,623 (GRCm39) I283M possibly damaging Het
Mki67 T A 7: 135,302,251 (GRCm39) M928L possibly damaging Het
Myh15 T A 16: 48,930,847 (GRCm39) V607D probably damaging Het
Noc4l C A 5: 110,801,081 (GRCm39) probably benign Het
Or51b6b T A 7: 103,309,573 (GRCm39) I295F probably damaging Het
Papss1 T A 3: 131,307,772 (GRCm39) W274R probably damaging Het
Pax3 C T 1: 78,171,962 (GRCm39) V83I probably damaging Het
Prmt5 C T 14: 54,747,322 (GRCm39) R485H probably damaging Het
Ptprq A G 10: 107,418,220 (GRCm39) Y1719H probably damaging Het
Ranbp2 A T 10: 58,315,900 (GRCm39) I2207F possibly damaging Het
Rock2 T A 12: 17,021,042 (GRCm39) probably benign Het
Sema3c G A 5: 17,867,961 (GRCm39) R124H probably damaging Het
Serpina1e G A 12: 103,917,393 (GRCm39) T92M probably benign Het
Sgip1 T C 4: 102,768,667 (GRCm39) L83P probably benign Het
Tm9sf2 C T 14: 122,361,162 (GRCm39) S68L probably damaging Het
Tmem178 A G 17: 81,297,235 (GRCm39) T206A probably damaging Het
Tmem207 A T 16: 26,336,617 (GRCm39) Y46N possibly damaging Het
Tyk2 A G 9: 21,031,703 (GRCm39) L429P probably damaging Het
Other mutations in Ndufaf2
AlleleSourceChrCoordTypePredicted EffectPPH Score
R1607:Ndufaf2 UTSW 13 108,228,107 (GRCm39) missense probably benign 0.05
R4707:Ndufaf2 UTSW 13 108,189,314 (GRCm39) missense probably damaging 0.97
R4784:Ndufaf2 UTSW 13 108,189,314 (GRCm39) missense probably damaging 0.97
R4785:Ndufaf2 UTSW 13 108,189,314 (GRCm39) missense probably damaging 0.97
R4932:Ndufaf2 UTSW 13 108,295,010 (GRCm39) missense probably damaging 1.00
R8378:Ndufaf2 UTSW 13 108,189,387 (GRCm39) missense probably damaging 1.00
R8984:Ndufaf2 UTSW 13 108,189,316 (GRCm39) missense probably benign 0.00
Posted On 2015-04-16