Incidental Mutation 'IGL01556:Ndufa6'
ID 278575
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ndufa6
Ensembl Gene ENSMUSG00000022450
Gene Name NADH:ubiquinone oxidoreductase subunit A6
Synonyms 14kDa, B230217P19Rik
Accession Numbers
Essential gene? Not available question?
Stock # IGL01556
Quality Score
Status
Chromosome 15
Chromosomal Location 82234342-82238438 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 82238282 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Methionine at position 50 (V50M)
Ref Sequence ENSEMBL: ENSMUSP00000023085 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000023085] [ENSMUST00000023085] [ENSMUST00000023086] [ENSMUST00000161892] [ENSMUST00000229537] [ENSMUST00000230360] [ENSMUST00000230494] [ENSMUST00000230494] [ENSMUST00000230676]
AlphaFold Q9CQZ5
Predicted Effect possibly damaging
Transcript: ENSMUST00000023085
AA Change: V50M

PolyPhen 2 Score 0.810 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000023085
Gene: ENSMUSG00000022450
AA Change: V50M

DomainStartEndE-ValueType
low complexity region 2 16 N/A INTRINSIC
Pfam:Complex1_LYR 33 95 8.1e-13 PFAM
Pfam:Complex1_LYR_1 33 97 4.2e-9 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000023085
AA Change: V50M

PolyPhen 2 Score 0.810 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000023085
Gene: ENSMUSG00000022450
AA Change: V50M

DomainStartEndE-ValueType
low complexity region 2 16 N/A INTRINSIC
Pfam:Complex1_LYR 33 95 8.1e-13 PFAM
Pfam:Complex1_LYR_1 33 97 4.2e-9 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000023086
SMART Domains Protein: ENSMUSP00000023086
Gene: ENSMUSG00000022452

DomainStartEndE-ValueType
Pfam:DDDD 33 107 1.7e-40 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000161892
Predicted Effect noncoding transcript
Transcript: ENSMUST00000229283
Predicted Effect noncoding transcript
Transcript: ENSMUST00000229427
Predicted Effect unknown
Transcript: ENSMUST00000229537
AA Change: G37S
Predicted Effect probably benign
Transcript: ENSMUST00000230360
Predicted Effect unknown
Transcript: ENSMUST00000230494
AA Change: G50R
Predicted Effect unknown
Transcript: ENSMUST00000230494
AA Change: G50R
Predicted Effect probably benign
Transcript: ENSMUST00000230676
Predicted Effect noncoding transcript
Transcript: ENSMUST00000230589
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 member of the LYR family of proteins that contain a highly conserved tripeptide (LYR) motif near the N-terminus. The encoded protein is an accessory subunit of NADH: ubiquinone oxidorerductase (Complex I), which is the largest enzyme of the mitochondrial membrane respiratory chain. Complex I functions in electron transfer from NADH to the respiratory chain. [provided by RefSeq, Oct 2016]
Allele List at MGI
Other mutations in this stock
Total: 34 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts18 T C 8: 114,571,741 (GRCm39) I81V probably benign Het
Aoc1l1 A C 6: 48,952,618 (GRCm39) D181A possibly damaging Het
Armc3 T A 2: 19,273,957 (GRCm39) D330E probably damaging Het
Atp6v0b A G 4: 117,743,062 (GRCm39) F49S probably damaging Het
Atp8b3 A C 10: 80,366,802 (GRCm39) Y265* probably null Het
Cby2 A G 14: 75,821,551 (GRCm39) F16S probably damaging Het
Cdh11 A G 8: 103,406,276 (GRCm39) Y66H probably damaging Het
Cntn5 T A 9: 9,673,913 (GRCm39) M730L probably benign Het
Cntrl A G 2: 35,063,071 (GRCm39) T1556A probably benign Het
Dixdc1 A G 9: 50,617,434 (GRCm39) S128P probably damaging Het
Egfr T C 11: 16,855,382 (GRCm39) L889S probably damaging Het
F830045P16Rik A G 2: 129,305,640 (GRCm39) Y245H probably benign Het
Fam124a G A 14: 62,825,181 (GRCm39) C225Y probably damaging Het
Frem2 T C 3: 53,442,702 (GRCm39) T2612A probably benign Het
Gkap1 A T 13: 58,411,106 (GRCm39) I89N probably benign Het
Gm8247 A T 14: 44,823,811 (GRCm39) K75* probably null Het
Gpi-ps A G 8: 5,689,833 (GRCm39) noncoding transcript Het
Hdac11 T A 6: 91,150,162 (GRCm39) H320Q probably benign Het
Iyd A G 10: 3,497,091 (GRCm39) I149V probably benign Het
Krtap4-6 T A 11: 99,556,676 (GRCm39) Q17L unknown Het
Lrrc24 T A 15: 76,606,775 (GRCm39) D207V probably damaging Het
Mfsd12 G A 10: 81,198,858 (GRCm39) C425Y probably damaging Het
Muc5b A G 7: 141,416,977 (GRCm39) T3308A probably benign Het
Myo18b A G 5: 112,905,315 (GRCm39) probably benign Het
Nin A G 12: 70,089,962 (GRCm39) V1151A probably benign Het
Nrf1 A G 6: 30,126,366 (GRCm39) probably benign Het
Pcdhb20 T C 18: 37,637,852 (GRCm39) I126T possibly damaging Het
Pdgfra G T 5: 75,338,352 (GRCm39) L535F probably damaging Het
Pkn2 A T 3: 142,535,078 (GRCm39) I212K possibly damaging Het
Slc5a9 T A 4: 111,755,833 (GRCm39) T22S probably benign Het
Slitrk1 A G 14: 109,150,450 (GRCm39) L87S probably damaging Het
Syne2 C A 12: 76,134,589 (GRCm39) R29S probably damaging Het
Zc3h12b C A X: 94,970,721 (GRCm39) F551L probably damaging Het
Zfp664 C A 5: 124,963,252 (GRCm39) C215* probably null Het
Other mutations in Ndufa6
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01548:Ndufa6 APN 15 82,238,282 (GRCm39) missense possibly damaging 0.81
Posted On 2015-04-16