Incidental Mutation 'IGL01765:Ndufa7'
ID 153310
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ndufa7
Ensembl Gene ENSMUSG00000041881
Gene Name NADH:ubiquinone oxidoreductase subunit A7
Synonyms NADH oxidoreductase, 14.5kDa, 2400007M02Rik
Accession Numbers
Essential gene? Probably non essential (E-score: 0.180) question?
Stock # IGL01765
Quality Score
Status
Chromosome 17
Chromosomal Location 34043546-34057290 bp(+) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) G to T at 34048786 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Stop codon at position 83 (E83*)
Ref Sequence ENSEMBL: ENSMUSP00000039692 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000048249] [ENSMUST00000173132]
AlphaFold Q9Z1P6
Predicted Effect probably null
Transcript: ENSMUST00000048249
AA Change: E83*
SMART Domains Protein: ENSMUSP00000039692
Gene: ENSMUSG00000041881
AA Change: E83*

DomainStartEndE-ValueType
Pfam:CI-B14_5a 5 102 2.1e-40 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000173132
Predicted Effect noncoding transcript
Transcript: ENSMUST00000173175
Predicted Effect noncoding transcript
Transcript: ENSMUST00000173182
Predicted Effect noncoding transcript
Transcript: ENSMUST00000173556
Predicted Effect noncoding transcript
Transcript: ENSMUST00000173807
Predicted Effect noncoding transcript
Transcript: ENSMUST00000173946
Predicted Effect noncoding transcript
Transcript: ENSMUST00000174847
Predicted Effect noncoding transcript
Transcript: ENSMUST00000174498
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: This gene encodes a subunit of the NADH-ubiquinone oxidoreductase (complex I) enzyme, which is a large, multimeric protein. It is the first enzyme complex in the mitochondrial electron transport chain and catalyzes the transfer of electrons from NADH to the electron acceptor ubiquinone. The proton gradient created by electron transfer drives the conversion of ADP to ATP. Complex I has been biochemically separated into four fractions. The bovine ortholog of this protein has been reported to be part of the I-lambda fraction, which forms the extrinsic globular domain. In humans, deficiencies in complex I are associated with myopathies, encephalomyopathies, and neurodegenerative disorders. Pseudogenes of this gene are located on chromosomes 7 and 16. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2013]
Allele List at MGI
Other mutations in this stock
Total: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrf2 A T 17: 43,030,426 (GRCm39) M11K probably benign Het
Agap2 T C 10: 126,919,104 (GRCm39) V442A unknown Het
Cdh20 C T 1: 109,988,836 (GRCm39) T246I probably damaging Het
Creb3l1 T C 2: 91,854,446 (GRCm39) D2G possibly damaging Het
Dicer1 G A 12: 104,672,999 (GRCm39) R811C probably damaging Het
Drosha C A 15: 12,902,766 (GRCm39) A1012E probably damaging Het
Eftud2 A G 11: 102,730,082 (GRCm39) I896T probably damaging Het
Fastkd5 T C 2: 130,457,654 (GRCm39) Y312C possibly damaging Het
Flt3 A G 5: 147,294,788 (GRCm39) F428L probably benign Het
Hrh4 G A 18: 13,140,252 (GRCm39) R49Q probably damaging Het
Lrp6 T C 6: 134,433,108 (GRCm39) T1408A probably damaging Het
Lsg1 T C 16: 30,400,913 (GRCm39) E132G probably damaging Het
Ltf T C 9: 110,851,085 (GRCm39) V99A possibly damaging Het
Mettl13 A T 1: 162,366,522 (GRCm39) D452E probably benign Het
Nmrk1 C T 19: 18,616,902 (GRCm39) T17M probably damaging Het
Ntsr1 A G 2: 180,180,510 (GRCm39) E272G possibly damaging Het
Obscn T C 11: 59,006,610 (GRCm39) K1184R possibly damaging Het
Or10z1 T G 1: 174,077,703 (GRCm39) K263N probably damaging Het
Or11j4 A T 14: 50,630,291 (GRCm39) Q26L probably benign Het
Or1e21 A C 11: 73,344,303 (GRCm39) L245R probably damaging Het
Or2n1 G T 17: 38,486,577 (GRCm39) V201L probably benign Het
Or4a68 C T 2: 89,270,144 (GRCm39) V160I probably benign Het
Or7e170 A T 9: 19,795,247 (GRCm39) M118K possibly damaging Het
Pcdhb10 A G 18: 37,547,072 (GRCm39) K716R probably benign Het
Phldb3 A G 7: 24,316,800 (GRCm39) D267G possibly damaging Het
Plcb2 T A 2: 118,540,749 (GRCm39) probably benign Het
Pramel17 T C 4: 101,695,049 (GRCm39) I87M probably benign Het
Pusl1 A G 4: 155,974,170 (GRCm39) F219L probably damaging Het
Rbbp6 T C 7: 122,599,177 (GRCm39) probably benign Het
Rev3l T A 10: 39,704,261 (GRCm39) D228E probably benign Het
Rnf213 A T 11: 119,327,178 (GRCm39) M1723L probably benign Het
Sc5d A G 9: 42,167,464 (GRCm39) F128S probably damaging Het
Sco1 T C 11: 66,944,616 (GRCm39) S80P probably damaging Het
Supt16 C T 14: 52,417,680 (GRCm39) R278H probably damaging Het
Supt6 A G 11: 78,112,985 (GRCm39) I986T probably benign Het
Trio A G 15: 27,764,112 (GRCm39) V860A possibly damaging Het
Uck1 A G 2: 32,148,688 (GRCm39) probably benign Het
Vmn2r63 T C 7: 42,552,788 (GRCm39) T823A probably benign Het
Other mutations in Ndufa7
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01715:Ndufa7 APN 17 34,057,122 (GRCm39) missense probably benign
IGL02902:Ndufa7 APN 17 34,048,632 (GRCm39) splice site probably benign
R4799:Ndufa7 UTSW 17 34,057,187 (GRCm39) utr 3 prime probably benign
R5023:Ndufa7 UTSW 17 34,043,577 (GRCm39) unclassified probably benign
R7302:Ndufa7 UTSW 17 34,048,687 (GRCm39) missense probably benign 0.02
R7459:Ndufa7 UTSW 17 34,057,140 (GRCm39) missense probably damaging 0.96
Posted On 2014-02-04