Incidental Mutation 'IGL02524:Ndufaf6'
ID 296982
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ndufaf6
Ensembl Gene ENSMUSG00000050323
Gene Name NADH:ubiquinone oxidoreductase complex assembly factor 6
Synonyms 2310030N02Rik
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.385) question?
Stock # IGL02524
Quality Score
Status
Chromosome 4
Chromosomal Location 11051045-11076205 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 11059091 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Serine at position 246 (F246S)
Ref Sequence ENSEMBL: ENSMUSP00000062039 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000058183]
AlphaFold A2AIL4
Predicted Effect probably benign
Transcript: ENSMUST00000058183
AA Change: F246S

PolyPhen 2 Score 0.097 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000062039
Gene: ENSMUSG00000050323
AA Change: F246S

DomainStartEndE-ValueType
low complexity region 40 50 N/A INTRINSIC
Pfam:SQS_PSY 65 323 3.7e-65 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000124607
Predicted Effect noncoding transcript
Transcript: ENSMUST00000126468
Predicted Effect noncoding transcript
Transcript: ENSMUST00000144475
Predicted Effect noncoding transcript
Transcript: ENSMUST00000154122
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein that localizes to mitochondria and contains a predicted phytoene synthase domain. The encoded protein plays an important role in the assembly of complex I (NADH-ubiquinone oxidoreductase) of the mitochondrial respiratory chain through regulation of subunit ND1 biogenesis. Mutations in this gene are associated with complex I enzymatic deficiency. [provided by RefSeq, Nov 2011]
Allele List at MGI
Other mutations in this stock
Total: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca8a A G 11: 109,969,641 (GRCm39) probably benign Het
Acvr1 T C 2: 58,338,319 (GRCm39) probably benign Het
Asap3 A T 4: 135,965,927 (GRCm39) T453S probably damaging Het
Ccdc110 C T 8: 46,394,979 (GRCm39) P290L probably benign Het
Ccdc127 A G 13: 74,501,016 (GRCm39) N11S probably damaging Het
Cd80 T C 16: 38,303,045 (GRCm39) V164A probably benign Het
Ctnna3 T C 10: 64,096,605 (GRCm39) I381T possibly damaging Het
Epha7 A T 4: 28,821,494 (GRCm39) T220S possibly damaging Het
Etnppl A G 3: 130,424,320 (GRCm39) probably benign Het
Far2 T A 6: 148,052,156 (GRCm39) L145Q probably damaging Het
Fdxr A G 11: 115,162,086 (GRCm39) probably null Het
Jmy A G 13: 93,609,268 (GRCm39) V347A probably damaging Het
Kcns2 A G 15: 34,838,981 (GRCm39) I115V probably benign Het
Kif2a A G 13: 107,100,863 (GRCm39) L627S possibly damaging Het
Krtap26-1 A G 16: 88,444,367 (GRCm39) S85P possibly damaging Het
Ldlr C A 9: 21,644,977 (GRCm39) D168E probably damaging Het
Lrrc8e T G 8: 4,285,392 (GRCm39) L539R probably damaging Het
Mmp8 A G 9: 7,560,506 (GRCm39) E61G probably damaging Het
Msh2 T C 17: 87,985,785 (GRCm39) F121L probably benign Het
Myh4 A G 11: 67,140,066 (GRCm39) K638E possibly damaging Het
Nynrin C T 14: 56,108,931 (GRCm39) A1346V possibly damaging Het
Or8k53 A C 2: 86,177,686 (GRCm39) C141W probably damaging Het
P2rx1 C T 11: 72,900,474 (GRCm39) P196L probably damaging Het
Pbx3 T C 2: 34,260,830 (GRCm39) probably benign Het
Psen2 A T 1: 180,073,232 (GRCm39) S30T probably benign Het
Rack1 T C 11: 48,694,298 (GRCm39) V166A probably benign Het
Rpgrip1 A G 14: 52,358,511 (GRCm39) T206A probably benign Het
Rrp7a A G 15: 83,002,379 (GRCm39) probably benign Het
Slco1b2 C T 6: 141,616,798 (GRCm39) T377I probably benign Het
Spmip11 G A 15: 98,469,006 (GRCm39) probably null Het
Sult2a6 A T 7: 13,970,611 (GRCm39) S162T possibly damaging Het
Syt2 A G 1: 134,669,703 (GRCm39) K115E probably benign Het
Tet1 A G 10: 62,714,425 (GRCm39) S457P probably damaging Het
Trbv3 A G 6: 41,025,599 (GRCm39) E63G possibly damaging Het
Unc13d T C 11: 115,961,145 (GRCm39) Y404C probably damaging Het
Usp32 G A 11: 84,900,837 (GRCm39) R1128* probably null Het
Vps4a G A 8: 107,763,383 (GRCm39) probably benign Het
Ythdc2 T A 18: 44,980,921 (GRCm39) H505Q probably damaging Het
Ywhab T A 2: 163,858,057 (GRCm39) L208Q probably damaging Het
Zfyve16 T C 13: 92,641,022 (GRCm39) K1241E probably benign Het
Other mutations in Ndufaf6
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00594:Ndufaf6 APN 4 11,062,127 (GRCm39) missense probably damaging 1.00
IGL01325:Ndufaf6 APN 4 11,070,251 (GRCm39) missense probably benign 0.00
PIT4366001:Ndufaf6 UTSW 4 11,073,215 (GRCm39) missense probably benign 0.00
R0605:Ndufaf6 UTSW 4 11,051,224 (GRCm39) missense probably damaging 0.99
R0855:Ndufaf6 UTSW 4 11,051,169 (GRCm39) missense probably damaging 1.00
R1674:Ndufaf6 UTSW 4 11,070,264 (GRCm39) missense probably benign 0.04
R1857:Ndufaf6 UTSW 4 11,053,474 (GRCm39) missense probably benign 0.00
R1858:Ndufaf6 UTSW 4 11,053,474 (GRCm39) missense probably benign 0.00
R1859:Ndufaf6 UTSW 4 11,053,474 (GRCm39) missense probably benign 0.00
R2174:Ndufaf6 UTSW 4 11,070,228 (GRCm39) missense probably benign 0.00
R4651:Ndufaf6 UTSW 4 11,062,070 (GRCm39) missense probably damaging 1.00
R4870:Ndufaf6 UTSW 4 11,060,917 (GRCm39) missense probably benign 0.01
R5131:Ndufaf6 UTSW 4 11,060,931 (GRCm39) missense probably damaging 0.99
R5929:Ndufaf6 UTSW 4 11,051,150 (GRCm39) missense probably benign 0.00
R8253:Ndufaf6 UTSW 4 11,059,086 (GRCm39) missense probably damaging 1.00
R9170:Ndufaf6 UTSW 4 11,070,301 (GRCm39) missense probably benign 0.33
R9224:Ndufaf6 UTSW 4 11,062,089 (GRCm39) missense probably damaging 0.96
Posted On 2015-04-16