Incidental Mutation 'IGL03356:Ndufa9'
ID 419951
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 # IGL03356
Quality Score
Status
Chromosome 6
Chromosomal Location 126798826-126826107 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 126821813 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 54 (V54A)
Ref Sequence ENSEMBL: ENSMUSP00000144904 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000088194] [ENSMUST00000205002]
AlphaFold Q9DC69
Predicted Effect possibly damaging
Transcript: ENSMUST00000088194
AA Change: V50A

PolyPhen 2 Score 0.894 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000085523
Gene: ENSMUSG00000000399
AA Change: V50A

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 possibly damaging
Transcript: ENSMUST00000205002
AA Change: V54A

PolyPhen 2 Score 0.894 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000144904
Gene: ENSMUSG00000000399
AA Change: V54A

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: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A1bg A C 15: 60,791,737 (GRCm39) M233R probably benign Het
Aadat T C 8: 60,984,725 (GRCm39) M256T probably damaging Het
Adamts16 T C 13: 70,901,410 (GRCm39) N889S probably benign Het
Camkk2 A T 5: 122,881,937 (GRCm39) I235N probably damaging Het
Card6 C T 15: 5,129,723 (GRCm39) A558T probably benign Het
Ccdc175 T G 12: 72,186,667 (GRCm39) probably null Het
Crot A G 5: 9,038,295 (GRCm39) probably benign Het
Cyp2c67 A G 19: 39,628,405 (GRCm39) S180P probably damaging Het
Ddx55 A G 5: 124,692,816 (GRCm39) N81S possibly damaging Het
Dennd3 C T 15: 73,440,482 (GRCm39) T1171M probably benign Het
Dnah7a T C 1: 53,543,093 (GRCm39) D2359G probably benign Het
Dpp8 T A 9: 64,953,069 (GRCm39) N248K probably benign Het
Ganc T C 2: 120,265,769 (GRCm39) I439T probably benign Het
Gdpgp1 T C 7: 79,888,443 (GRCm39) I158T possibly damaging Het
Grm3 T C 5: 9,562,206 (GRCm39) D548G possibly damaging Het
H2-DMb1 T A 17: 34,376,514 (GRCm39) probably benign Het
Hecw2 A G 1: 53,966,217 (GRCm39) probably benign Het
Hs3st2 A G 7: 120,992,389 (GRCm39) E113G probably damaging Het
Hspa4 C A 11: 53,160,627 (GRCm39) R483L probably damaging Het
Ik C A 18: 36,889,657 (GRCm39) S490R probably damaging Het
Ldlrad1 G A 4: 107,072,035 (GRCm39) V86M possibly damaging Het
Mfsd4b1 A C 10: 39,878,827 (GRCm39) F357V probably damaging Het
Nfe2l2 A G 2: 75,509,544 (GRCm39) I92T probably benign Het
Oas1a A G 5: 121,043,908 (GRCm39) S75P probably damaging Het
Oca2 T G 7: 56,185,716 (GRCm39) M814R probably benign Het
Phlpp2 A G 8: 110,662,249 (GRCm39) T879A probably benign Het
Potefam3e A G 8: 19,799,463 (GRCm39) I304V probably benign Het
Rpe65 A T 3: 159,321,214 (GRCm39) Y342F possibly damaging Het
Satb2 T C 1: 56,930,333 (GRCm39) K230R probably damaging Het
Slc4a4 A G 5: 89,270,342 (GRCm39) T297A probably benign Het
Slpi T C 2: 164,198,129 (GRCm39) T22A probably benign Het
Sphkap A T 1: 83,254,552 (GRCm39) S779T probably damaging Het
Synj1 A G 16: 90,784,280 (GRCm39) F286S probably damaging Het
Tektl1 A G 10: 78,582,966 (GRCm39) C473R possibly damaging Het
Tigd2 T A 6: 59,188,690 (GRCm39) I519K probably benign Het
Tyr G T 7: 87,141,922 (GRCm39) L136I possibly damaging Het
Vmn1r34 A T 6: 66,613,970 (GRCm39) M256K probably benign Het
Zmym2 T A 14: 57,194,517 (GRCm39) C1258* probably null 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
IGL02206:Ndufa9 APN 6 126,821,366 (GRCm39) nonsense probably null
IGL03186:Ndufa9 APN 6 126,821,855 (GRCm39) missense possibly damaging 0.47
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 2016-08-02