Incidental Mutation 'IGL02603:Ndufa8'
ID300160
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ndufa8
Ensembl Gene ENSMUSG00000026895
Gene NameNADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 8
Synonyms0610033L03Rik
Accession Numbers
Is this an essential gene? Probably essential (E-score: 0.784) question?
Stock #IGL02603
Quality Score
Status
Chromosome2
Chromosomal Location36036326-36049406 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to A at 36044458 bp
ZygosityHeterozygous
Amino Acid Change Cysteine to Phenylalanine at position 36 (C36F)
Ref Sequence ENSEMBL: ENSMUSP00000065352 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000028256] [ENSMUST00000070112]
Predicted Effect probably benign
Transcript: ENSMUST00000028256
SMART Domains Protein: ENSMUSP00000028256
Gene: ENSMUSG00000026894

DomainStartEndE-ValueType
MORN 6 27 1.24e1 SMART
MORN 29 50 3.61e-2 SMART
Pfam:MORN 54 75 2e-4 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000070112
AA Change: C36F

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000065352
Gene: ENSMUSG00000026895
AA Change: C36F

DomainStartEndE-ValueType
low complexity region 5 29 N/A INTRINSIC
Pfam:CHCH 78 113 3.6e-10 PFAM
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene belongs to the complex I 19 kDa subunit family. Mammalian complex I is composed of 45 different subunits. This protein has NADH dehydrogenase activity and oxidoreductase activity. It plays an important role in transfering electrons from NADH to the respiratory chain. The immediate electron acceptor for the enzyme is believed to be ubiquinone. Alternative splicing of this gene results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Dec 2015]
Allele List at MGI
Other mutations in this stock
Total: 20 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrv1 A G 13: 81,488,952 S3457P possibly damaging Het
Aipl1 A G 11: 72,036,700 I63T possibly damaging Het
Atp7b C T 8: 21,994,776 V1307M possibly damaging Het
Cdc20b T C 13: 113,078,755 S286P possibly damaging Het
Eif2ak4 G A 2: 118,450,326 R946H probably damaging Het
Fam98c A G 7: 29,154,448 S232P probably damaging Het
Glt1d1 G T 5: 127,632,345 R21L probably damaging Het
Gm5286 A T 3: 94,198,437 T21S possibly damaging Het
Gm5422 A G 10: 31,249,440 noncoding transcript Het
Haao T A 17: 83,835,541 D125V probably benign Het
Hipk1 A G 3: 103,750,272 V832A probably damaging Het
Lrrtm4 C A 6: 80,022,984 Q460K possibly damaging Het
Lyar A G 5: 38,234,061 N368S probably damaging Het
Lyst G A 13: 13,660,956 C1741Y probably benign Het
Lztr1 C A 16: 17,509,686 N84K possibly damaging Het
Olfr136 T A 17: 38,335,513 S119T probably damaging Het
Olfr739 T A 14: 50,425,200 V227E probably damaging Het
Psg19 A G 7: 18,792,768 S146P probably benign Het
Rbm12 C T 2: 156,095,560 probably benign Het
Rnf123 G A 9: 108,068,302 R390* probably null Het
Other mutations in Ndufa8
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00095:Ndufa8 APN 2 36044455 missense probably damaging 0.99
R0322:Ndufa8 UTSW 2 36036622 missense probably benign 0.11
R2161:Ndufa8 UTSW 2 36036515 missense probably damaging 1.00
R2287:Ndufa8 UTSW 2 36036542 missense probably benign 0.36
R3001:Ndufa8 UTSW 2 36036559 missense possibly damaging 0.83
R3002:Ndufa8 UTSW 2 36036559 missense possibly damaging 0.83
R6186:Ndufa8 UTSW 2 36039740 missense probably benign 0.16
Posted On2015-04-16