Incidental Mutation 'IGL02206:Ndufa9'
ID 284492
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ndufa9
Ensembl Gene ENSMUSG00000000399
Gene Name NADH:ubiquinone oxidoreductase subunit A9
Synonyms 1010001N11Rik
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL02206
Quality Score
Status
Chromosome 6
Chromosomal Location 126798826-126826107 bp(-) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) G to A at 126821366 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Stop codon at position 75 (R75*)
Ref Sequence ENSEMBL: ENSMUSP00000144904 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000088194] [ENSMUST00000205002]
AlphaFold Q9DC69
Predicted Effect probably null
Transcript: ENSMUST00000088194
AA Change: R71*
SMART Domains Protein: ENSMUSP00000085523
Gene: ENSMUSG00000000399
AA Change: R71*

DomainStartEndE-ValueType
low complexity region 2 12 N/A INTRINSIC
low complexity region 46 55 N/A INTRINSIC
Pfam:NmrA 56 204 1.9e-13 PFAM
Pfam:Epimerase 56 264 4.7e-11 PFAM
Pfam:3Beta_HSD 57 200 1.4e-11 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000200890
Predicted Effect probably null
Transcript: ENSMUST00000205002
AA Change: R75*
SMART Domains Protein: ENSMUSP00000144904
Gene: ENSMUSG00000000399
AA Change: R75*

DomainStartEndE-ValueType
low complexity region 2 12 N/A INTRINSIC
low complexity region 46 55 N/A INTRINSIC
Pfam:NmrA 56 204 1.9e-13 PFAM
Pfam:Epimerase 56 264 4.7e-11 PFAM
Pfam:3Beta_HSD 57 200 1.4e-11 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 encoded protein is a subunit of the hydrophobic protein fraction of the NADH:ubiquinone oxidoreductase (complex I), the first enzyme complex in the electron transport chain located in the inner mitochondrial membrane. A pseudogene has been identified on chromosome 12. [provided by RefSeq, May 2010]
Allele List at MGI
Other mutations in this stock
Total: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acaca A T 11: 84,151,573 (GRCm39) K824* probably null Het
Acot12 A G 13: 91,908,106 (GRCm39) D96G probably damaging Het
Acvr2b C T 9: 119,257,064 (GRCm39) Q98* probably null Het
Aldh8a1 T C 10: 21,271,474 (GRCm39) V400A probably benign Het
Aox1 C A 1: 58,104,499 (GRCm39) H559N probably benign Het
Arhgef18 T A 8: 3,495,034 (GRCm39) I431N probably benign Het
Atad5 A G 11: 79,985,009 (GRCm39) D32G probably damaging Het
Cgas T C 9: 78,350,362 (GRCm39) probably null Het
Cmtm8 T C 9: 114,672,967 (GRCm39) H10R probably benign Het
Cnn1 T G 9: 22,015,674 (GRCm39) probably benign Het
Csgalnact1 C A 8: 68,854,144 (GRCm39) G219V probably damaging Het
Defb23 C A 2: 152,306,455 (GRCm39) E20* probably null Het
Dennd2a A T 6: 39,500,383 (GRCm39) S61T probably damaging Het
Fam13a A T 6: 58,964,204 (GRCm39) I76K probably benign Het
Fgd5 A G 6: 91,964,239 (GRCm39) probably benign Het
Flt4 A T 11: 49,521,217 (GRCm39) R409W probably damaging Het
Gramd1b T C 9: 40,211,328 (GRCm39) T652A probably benign Het
Grik1 C T 16: 87,732,808 (GRCm39) G703D probably damaging Het
Impg2 A G 16: 56,079,960 (GRCm39) E479G possibly damaging Het
Itpr1 A G 6: 108,526,781 (GRCm39) N2743S probably damaging Het
Klc1 A G 12: 111,744,550 (GRCm39) probably benign Het
Neurl4 A G 11: 69,801,166 (GRCm39) N1181S probably damaging Het
Or5an9 T C 19: 12,187,824 (GRCm39) I298T probably damaging Het
Phf1 A G 17: 27,155,843 (GRCm39) probably benign Het
Pkhd1l1 T C 15: 44,376,245 (GRCm39) I969T probably benign Het
Pprc1 G A 19: 46,060,190 (GRCm39) R1538Q probably damaging Het
Rasd1 C T 11: 59,854,778 (GRCm39) G234D possibly damaging Het
Rnf152 T C 1: 105,212,549 (GRCm39) T3A probably benign Het
Rrh C T 3: 129,605,346 (GRCm39) V115I probably benign Het
Rundc3a G T 11: 102,290,460 (GRCm39) E217* probably null Het
Sae1 A T 7: 16,064,581 (GRCm39) V306E possibly damaging Het
Serpinb7 T C 1: 107,363,102 (GRCm39) S89P possibly damaging Het
Serpinb9h A G 13: 33,588,182 (GRCm39) T256A probably damaging Het
Sgo2b T A 8: 64,394,118 (GRCm39) T74S possibly damaging Het
Slc5a7 T C 17: 54,604,022 (GRCm39) D48G probably damaging Het
Stn1 T C 19: 47,504,612 (GRCm39) M177V possibly damaging Het
Tgm1 T C 14: 55,942,392 (GRCm39) E653G possibly damaging Het
Thsd4 T C 9: 60,301,398 (GRCm39) K299R probably benign Het
Ttc22 A G 4: 106,493,186 (GRCm39) T278A probably damaging Het
Ubl4b G T 3: 107,462,141 (GRCm39) Q40K possibly damaging Het
Zfp677 A G 17: 21,613,499 (GRCm39) D31G probably damaging Het
Other mutations in Ndufa9
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01739:Ndufa9 APN 6 126,821,777 (GRCm39) missense probably damaging 1.00
IGL02167:Ndufa9 APN 6 126,821,748 (GRCm39) splice site probably benign
IGL03186:Ndufa9 APN 6 126,821,855 (GRCm39) missense possibly damaging 0.47
IGL03356:Ndufa9 APN 6 126,821,813 (GRCm39) missense possibly damaging 0.89
R0310:Ndufa9 UTSW 6 126,804,495 (GRCm39) splice site probably benign
R1118:Ndufa9 UTSW 6 126,799,031 (GRCm39) missense probably damaging 1.00
R1119:Ndufa9 UTSW 6 126,799,031 (GRCm39) missense probably damaging 1.00
R1714:Ndufa9 UTSW 6 126,799,154 (GRCm39) critical splice acceptor site probably null
R2207:Ndufa9 UTSW 6 126,821,772 (GRCm39) missense probably damaging 1.00
R2483:Ndufa9 UTSW 6 126,821,362 (GRCm39) missense possibly damaging 0.48
R3617:Ndufa9 UTSW 6 126,826,071 (GRCm39) unclassified probably benign
R3623:Ndufa9 UTSW 6 126,821,362 (GRCm39) missense possibly damaging 0.48
R4619:Ndufa9 UTSW 6 126,804,498 (GRCm39) splice site probably null
R4855:Ndufa9 UTSW 6 126,804,505 (GRCm39) nonsense probably null
R4931:Ndufa9 UTSW 6 126,813,283 (GRCm39) missense probably damaging 1.00
R4965:Ndufa9 UTSW 6 126,799,026 (GRCm39) missense probably benign 0.01
R5109:Ndufa9 UTSW 6 126,809,520 (GRCm39) splice site probably null
R7373:Ndufa9 UTSW 6 126,811,421 (GRCm39) missense probably damaging 1.00
R9178:Ndufa9 UTSW 6 126,826,050 (GRCm39) missense probably benign
Z1176:Ndufa9 UTSW 6 126,821,778 (GRCm39) missense probably damaging 1.00
Posted On 2015-04-16